+D #

  Human Diseases + Gene

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ACancers B Cancers of the nervous system C H00042 Glioma [PATH:hsa05214] D EGFR (amplification, overexpression) [HSA:1956] [KO:K04361] D MDM2 (amplification, overexpression) [HSA:4193] [KO:K06643] D PTEN (mutation) [HSA:5728] [KO:K01110] D p16/INK4A (deletion) [HSA:1029] [KO:K06621] D PDGF-A (overexpression) [HSA:5154] [KO:K04359] D PDGF-B (overexpression) [HSA:5155] [KO:K04359] D PDGFR-alpha (overexpression, amplification) [HSA:5156] [KO:K04363] D PDGFR-beta (overexpression, amplification) [HSA:5159] [KO:K05089] D CDK4 (amplification) [HSA:1019] [KO:K02089] D p53 (mutation) [HSA:7157] [KO:K04451] D RB1 (loss) [HSA:5925] [KO:K06618] C H00043 Neuroblastoma [PATH:hsa05202] D MYCN (normal/amplified) [HSA:4613] [KO:K09109] D TrkA (high/low expression) [HSA:4914] [KO:K03176] D TrkB (low/high expression) [HSA:4915] [KO:K04360] D TrkC (high/low expression) [HSA:4916] [KO:K05101] C ------ Schwannoma C ------ Meningioma B Cancers of the digestive system C H00017 Esophageal cancer D EGFR (overexpression) [HSA:1956] [KO:K04361] D p53 (mutation) [HSA:7157] [KO:K04451] D p16/INK4A (homozygous deletion, LOH) [HSA:1029] [KO:K06621] D RB1 (LOH) [HSA:5925] [KO:K06618] D iNOS (increased expression) [HSA:4843] [KO:K13241] D COX2 (overexpression) [HSA:5743] [KO:K11987] D APC (LOH) [HSA:324] [KO:K02085] D Cyclin D1 (amplification) [HSA:595] [KO:K04503] D FAS (increased expression) [HSA:355] [KO:K04390] C H00018 Gastric cancer D K-ras (mutation) [HSA:3845] [KO:K07827] D c-met (amplification) [HSA:4233] [KO:K05099] D K-sam (amplification) [HSA:2263] [KO:K05093] D ERBB2 (amplification) [HSA:2064] [KO:K05083] D EGFR (overexpression) [HSA:1956] [KO:K04361] D EGF (overexpression) [HSA:1950] [KO:K04357] D TGF-alpha (overexpression) [HSA:7039] [KO:K08774] D VEGF (overexpression) [HSA:7422 7423 7424 2277] [KO:K05448 K16858 K05449] D p53 (mutation, LOH) [HSA:7157] [KO:K04451] D APC (mutation, LOH) [HSA:324] [KO:K02085] D DCC (LOH) [HSA:1630] [KO:K06765] D E-Cadherin (mutation) [HSA:999] [KO:K05689] D beta-Catenin (mutation) [HSA:1499] [KO:K02105] D CD44 (abnormal splice variants) [HSA:960] [KO:K06256] D Bcl-2 (LOH) [HSA:596] [KO:K02161] D Cyclin E (amplification) [HSA:898 9134] [KO:K06626] C H00034 Carcinoid [PATH:hsa05202] D MEN1 (mutation, LOH) [HSA:4221] [KO:K14970] D SDHD (germline mutation, LOH) [HSA:6392] [KO:K00237] C H00020 Colorectal cancer [PATH:hsa05210] D beta-Catenin (mutation) [HSA:1499] [KO:K02105] D K-ras (mutation) [HSA:3845] [KO:K07827] D APC (germline mutation (FAP), somatic mutation) [HSA:10297] [KO:K02085] D DCC (deletion) [HSA:1630] [KO:K06765] D TGF-betaRII (mutation) [HSA:7048] [KO:K04388] D Smad2 (mutation) [HSA:4087] [KO:K04500] D Smad4 (deletion) [HSA:4089] [KO:K04501] D BAX (mutation) [HSA:581] [KO:K02159] D p53 (deletion) [HSA:7157] [KO:K04451] D MLH1 (germline mutation (HNPCC), LOH, promoter hypermethylation) [HSA:4292] [KO:K08734] D MSH2 (germline mutation (HNPCC), LOH, somatic mutation) [HSA:4436] [KO:K08735] D MSH3 (somatic frameshift mutation) [HSA:4437] [KO:K08736] D MSH6 (germline mutation (HNPCC), LOH, somatic frameshift mutation) [HSA:2956] [KO:K08737] C H00044 Cancer of the anal canal [PATH:hsa05203] D p53 (mutation) [HSA:7157] [KO:K04451] D DCC (mutation) [HSA:1630] [KO:K06765] D APC (mutation) [HSA:324] [KO:K02085] C H00048 Hepatocellular carcinoma [PATH:hsa05203] D PTEN (mutation) [HSA:5728] [KO:K01110] D H-ras (mutation) [HSA:3265] [KO:K02833] D K-ras (mutation) [HSA:3845] [KO:K07827] D N-ras (mutation) [HSA:4893] [KO:K07828] D AXIN1 (mutation) [HSA:8312] [KO:K02157] D beta-Catenin (mutation) [HSA:1499] [KO:K02105] D p53 (mutation) [HSA:7157] [KO:K04451] D p73 (mutation) [HSA:7161] [KO:K10148] D RB1 (mutation) [HSA:5925] [KO:K06618] D p16/INK4A (mutation) [HSA:1029] [KO:K06621] D E-Cadherin (mutation) [HSA:999] [KO:K05689] D IGF2R (mutation) [HSA:3482] [KO:K06564] C H00047 Gallbladder cancer D p53 (mutation) [HSA:7157] [KO:K04451] D p16/INK4A (mutation) [HSA:1029] [KO:K06621] D K-ras (mutation) [HSA:3845] [KO:K07827] D APC (mutation) [HSA:324] [KO:K02085] C H00046 Cholangiocarcinoma D K-ras (mutation) [HSA:3845] [KO:K07827] D p53 (mutation) [HSA:7157] [KO:K04451] D c-Met (overexpression) [HSA:4233] [KO:K05099] D ERBB2 (overexpression, amplification) [HSA:2064] [KO:K05083] D p16/INK4A (mutation) [HSA:1029] [KO:K06621] D COX2 (overexpression) [HSA:5743] [KO:K11987] C H00019 Pancreatic cancer [PATH:hsa05212] D K-ras (mutation) [HSA:3845] [KO:K07827] D ERBB2 (overexpression) [HSA:2064] [KO:K05083] D p16/INK4A (mutation, deletion, promoter methylation) [HSA:1029] [KO:K06621] D p53 (mutation) [HSA:7157] [KO:K04451] D SMAD4 (mutation) [HSA:4089] [KO:K04501] D BRCA2 (germline mutation) [HSA:675] [KO:K08775] D STK11 (germline mutation) [HSA:6794] [KO:K07298] B Cancers of haematopoietic and lymphoid tissues C H00003 Acute myeloid leukemia (AML) [PATH:hsa05221 hsa05202] D FLT3 (mutation) [HSA:2322] [KO:K05092] D c-KIT (mutation) [HSA:3815] [KO:K05091] D N-ras (mutation) [HSA:4893] [KO:K07828] D K-ras (mutation) [HSA:3845] [KO:K07827] D PML-RARalpha (translocation) [HSA:5371 5914] [KO:K10054 K08527] D AML1-ETO (translocation) [HSA:861 862] [KO:K08367 K10053] D PLZF-RARalpha (translocation) [HSA:7704 5914] [KO:K10055 K08527] D AML1 (mutation) [HSA:861] [KO:K08367] D C/EBPalpha (mutation) [HSA:1050] [KO:K09055] D PU.1 (mutation) [HSA:6688] [KO:K09438] C H00001 Acute lymphoblastic leukemia (ALL) (Precursor B lymphoblastic leukemia) [PATH:hsa05202] D BCR-ABL (translocation) [HSA:613 25] [KO:K08878 K06619] D MLL-AF4 (rearrangement) [HSA:4297 4299] [KO:K09186 K15184] D E2A-PBX1 (translocation) [HSA:6929 5087] [KO:K09063 K09355] D c-MYC (translocation) [HSA:4609] [KO:K04377] D TEL-AML1 (translocation) [HSA:2120 861] [KO:K03211 K08367] C H00002 Acute lymphoblastic leukemia (ALL) (Precursor T lymphoblastic leukemia) [PATH:hsa05202] D NOTCH1 (mutation) [HSA:4851] [KO:K02599] D TAL1 (overexpression) [HSA:6886] [KO:K09068] D LYL1 (expression) [HSA:4066] [KO:K15604] D MLL-ENL (translocation) [HSA:4297 4298] [KO:K09186 K15187] D HOX11 (translocation) [HSA:3195] [KO:K09340] D MYC (translocation) [HSA:4609] [KO:K04377] D LMO2 (translocation) [HSA:4005] [KO:K15612] D HOX11L2 (translocation) [HSA:30012] [KO:K15607] C H00004 Chronic myeloid leukemia (CML) [PATH:hsa05220] D BCR-ABL (translocation) [HSA:613 25] [KO:K08878 K06619] D EVI1 (overexpression) [HSA:2122] [KO:K04462] D AML1 (translocation) [HSA:861] [KO:K08367] D p16/INK4A (mutation) [HSA:1029] [KO:K06621] D p53 (mutation) [HSA:7157] [KO:K04451] D RB1 (mutation) [HSA:5925] [KO:K06618] C H00005 Chronic lymphocytic leukemia (CLL) D Bcl-2 (overexpression) [HSA:596] [KO:K02161] D p53 (mutation) [HSA:7157] [KO:K04451] D ATM (germline and somatic mutation) [HSA:472] [KO:K04728] D Fas (absent) [HSA:355] [KO:K04390] C H00007 Hodgkin lymphoma [PATH:hsa05202 hsa05203] D IKBA (mutation) [HSA:4792] [KO:K04734] D IKBE (mutation) [HSA:4794] [KO:K05872] D c-rel (amplification) [HSA:5966] [KO:K09254] D CD95 (mutation) [HSA:355] [KO:K04390] C H00006 Hairy-cell leukemia [PATH:hsa05202] D p53 (mutation) [HSA:7157] [KO:K04451] D Bcl-6 (mutation) [HSA:604] [KO:K15618] D Cyclin D1 (overexpression) [HSA:595] [KO:K04503] C H00008 Burkitt lymphoma [PATH:hsa05203] D MYC-IgH (translocation) [HSA:4609] [KO:K04377] D p53 (mutation) [HSA:7157] [KO:K04451] D p16/INK4A (promoter methylation) [HSA:1029] [KO:K06621] C H00009 Adult T-cell leukemia [PATH:hsa05166 hsa05203] D p53 (mutation) [HSA:7157] [KO:K04451] D p16/INK4A (deletion, promoter methylation) [HSA:1029] [KO:K06621] D Fas (mutation) [HSA:355] [KO:K04390] C H00010 Multiple myeloma [PATH:hsa05202] D CCND1-IgH (translocation) [HSA:595] [KO:K04503 K06856] D CCND3-IgH (translocation) [HSA:896] [KO:K10152 K06856] D IgH-FGFR3 (translocation) [HSA:2261] [KO:K06856 K05094] D IgH-MMSET (translocation) [HSA:7468] [KO:K06856 K11424] D IgH-MAF (translocation) [HSA:4094] [KO:K06856 K09035] D N-ras (activating mutation) [HSA:4893] [KO:K07828] D K-ras (activating mutation) [HSA:3845] [KO:K07827] D c-MYC (dysregulation) [HSA:4609] [KO:K04377] D p53 (mutation) [HSA:7157] [KO:K04451] C H00011 Lymphoplasmacytic lymphoma [PATH:hsa05202] D Pax5-IgH (translocation) [HSA:5079] [KO:K09383 K06856] C H00012 Polycythemia vera D JAK2 (mutation) [HSA:3717] [KO:K04447] B Cancers of the breast and female genital organs C H00031 Breast cancer D BRCA1 (germline mutation, hypermethylation) [HSA:672] [KO:K10605] D BRCA2 (germline mutation) [HSA:675] [KO:K08775] D p53 (mutation) [HSA:7157] [KO:K04451] D RB1 (underexpression) [HSA:5925] [KO:K06618] D PTEN (germline mutation) [HSA:5728] [KO:K01110] D c-MYC (overexpression) [HSA:4609] [KO:K04377] D ERBB2 (overexpression) [HSA:2064] [KO:K05083] D CDH1 (mutation) [HSA:999] [KO:K05689] D CCND1 (overexpression) [HSA:595] [KO:K04503] C H00027 Ovarian cancer D BRCA1 (germline mutation / deletion) [HSA:672] [KO:K10605] D BRCA2 (germline mutation / deletion) [HSA:675] [KO:K08775] D MSH2 (germline mutation) [HSA:4436] [KO:K08735] D MLH1 (germline mutation) [HSA:4292] [KO:K08734] D ERBB2 (amplification / overexpression) [HSA:2064] [KO:K05083] D K-ras (mutation) [HSA:3845] [KO:K07827] D AKT2 (amplification) [HSA:208] [KO:K04456] D PIK3CA (amplification) [HSA:5290] [KO:K00922] D c-MYC (overexpression) [HSA:4609] [KO:K04377] D p53 (mutation / deletion, overexpression) [HSA:7157] [KO:K04451] C H00028 Choriocarcinoma D p53 (overexpression) [HSA:7157] [KO:K04451] D MdM2 (overexpression) [HSA:4193] [KO:K06643] D EGFR (overexpression) [HSA:1956] [KO:K04361] D c-MYC (overexpression) [HSA:4609] [KO:K04377] D ERBB2 (overexpression) [HSA:2064] [KO:K05083] D c-FMS (overexpression) [HSA:1436] [KO:K05090] D Bcl-2 (overexpression) [HSA:596] [KO:K02161] D MMP-1 (overexpression) [HSA:4312] [KO:K01388] D MMP-2 (overexpression) [HSA:4313] [KO:K01398] C H00026 Endometrial cancer [PATH:hsa05213] D K-ras (mutational activation) [HSA:3845] [KO:K07827] D beta-Catenin (mutation) [HSA:1499] [KO:K02105] D ERBB2 (amplification) [HSA:2064] [KO:K05083] D PTEN (mutation, deletions, methylation) [HSA:5728] [KO:K01110] D p53 (mutation) [HSA:7157] [KO:K04451] D MLH1 (mutation, methylation) [HSA:4292] [KO:K08734] C H00030 Cervical cancer [PATH:hsa05203] D K-ras (mutation) [HSA:3845] [KO:K07827] D H-ras (mutation) [HSA:3265] [KO:K02833] D EGFR (amplification) [HSA:1956] [KO:K04361] D ERBB2 (amplification) [HSA:2064] [KO:K05083] D p21 (overexpression) [HSA:1026] [KO:K06625] D CDK4 (overexpression) [HSA:1019] [KO:K02089] D Bcl-2 (overexpression) [HSA:596] [KO:K02161] C H00029 Vulvar cancer D PTEN (mutation) [HSA:5728] [KO:K01110] D p53 (mutation) [HSA:7157] [KO:K04451] B Cancers of soft tissues and bone C H00049 Myxoid liposarcoma [PATH:hsa05202] D FUS-DDIT3 (translocation) [HSA:2521 1649] [KO:K13098 K04452] D EWSR1-DDIT3 (translocation) [HSA:2130 1649] [KO:K13209 K04452] C ------ Fibrosarcoma C ------ Malignant fibrous histiocytoma (MFH) C ------ Leiomyosarcoma C H00037 Alveolar rhabdomyosarcoma [PATH:hsa05202] D PAX3-FOXO1A (translocation) [HSA:5077 2308] [KO:K09381 K07201] D PAX7-FOXO1A (translocation) [HSA:5081 2308] [KO:K09381 K07201] D MDM2 (amplification) [HSA:4193] [KO:K06643] D ATR (amplification) [HSA:545] [KO:K06640] C H00041 Kaposi's sarcoma [PATH:hsa05203] D Bcl-2 (overexpression) [HSA:596] [KO:K02161] D c-MYC (overexpression) [HSA:4609] [KO:K04377] D c-INT (overexpression, mutation) [HSA:2248] [KO:K04358] D K-ras (overexpression, mutation) [HSA:3845] [KO:K07827] D p53 (mutation) [HSA:7157] [KO:K04451] C ------ Angiosarcoma C ------ Chondrosarcoma C H00050 Synovial sarcoma [PATH:hsa05202] D SYT-SSX1 (translocation) [HSA:6760 6756] [KO:K15623 K15624] D SYT-SSX2 (translocation) [HSA:6760 6757] [KO:K15623 K15625] D IGF-IR (overexpression) [HSA:3480] [KO:K05087] C ------ Epithelioid sarcoma C H00051 Alveolar soft part sarcoma [PATH:hsa05202] D ASPL-TFE3 (translocation) [HSA:79058 7030] [KO:K15627 K09105] C H00052 Clear cell sarcoma of soft tissue [PATH:hsa05202] D EWSR1-ATF1 (translocation) [HSA:2130 466] [KO:K13209 K09053] C H00053 Extraskeletal myxoid chondrosarcoma [PATH:hsa05202] D EWSR1-NR4A3 (translocation) [HSA:2130 8013] [KO:K13209 K08559] D TAF15-NR4A3 (translocation) [HSA:8148 8013] [KO:K14651 K08559] C ------ Desmoplastic small round cell tumour C H00036 Osteosarcoma D MDM2 (amplification) [HSA:4193] [KO:K06643] D SAS (amplification) [HSA:6302] D p53 (losses, rearrangements, point mutation) [HSA:7157] [KO:K04451] D RB1 (losses, rearrangements, point mutation) [HSA:5925] [KO:K06618] D p16/INK4A (mutation) [HSA:1029] [KO:K06621] D CDKN2B (mutation) [HSA:1030] [KO:K04685] D c-MYC (amplification) [HSA:4609] [KO:K04377] C H00035 Ewing's sarcoma [PATH:hsa05202] D EWSR1-FLI1 (translocation) [HSA:2130 2313] [KO:K13209 K09436] D EWSR1-ERG (translocation) [HSA:2130 2078] [KO:K13209 K09435] D EWSR1-ETV1 (translocation) [HSA:2130 2115] [KO:K13209 K09431] D EWSR1-ETV4 (translocation) [HSA:2130 2118] [KO:K13209 K15592] D EWSR1-FEV (translocation) [HSA:2130 54738] [KO:K13209 K09437] B Skin cancers C H00039 Basal cell carcinoma [PATH:hsa05217] D SHH (germline, somatic mutation) [HSA:6469] [KO:K11988] D SMO (somatic mutation) [HSA:6608] [KO:K06226] D p53 (mutation) [HSA:7157] [KO:K04451] D PTCH (germline, somatic mutation) [HSA:5727] [KO:K06225] C H00040 Squamous cell carcinoma D p53 (mutation) [HSA:7157] [KO:K04451] D p16/INK4A (mutation) [HSA:1029] [KO:K06621] D H-ras (mutation) [HSA:3265] [KO:K02833] D K-ras (mutation) [HSA:3845] [KO:K07827] C H00038 Malignant melanoma [PATH:hsa05218] D BRAF (mutation) [HSA:673] [KO:K04365] D NRAS (mutation) [HSA:4893] [KO:K07828] D CDK4 (mutation) [HSA:1019] [KO:K02089] D MITF (amplification) [HSA:4286] [KO:K09455] D PTEN (deletion, germline mutation, somatic mutation, LOH) [HSA:5728] [KO:K01110] D p16/INK4A (loss/mutation) [HSA:1029] [KO:K06621] D p53 (loss/mutation) [HSA:7157] [KO:K04451] C ------ Mycosis fungoides C ------ Merkel cell carcinoma B Cancers of the urinary system and male genital organs C H00021 Renal cell carcinoma [PATH:hsa05211 hsa05202] D VHL (germline mutation (VHL disease), somatic mutation) [HSA:7428] [KO:K03871] D Met (germline activating mutation (HPRC), somatic activating mutation) [HSA:4233] [KO:K05099] D FH (germline loss-of-function mutation (HLPCC), LOH, somatic mutation) [HSA:2271] [KO:K01679] D BHD (germline mutation (Birt-Hogg-Dube syndrome)) [HSA:201163] [KO:K09594] D PRCC-TFE3 (translocation) [HSA:5546 7030] [KO:K13105 K09105] C H00022 Bladder cancer [PATH:hsa05219] D H-ras (activating mutation) [HSA:3265] [KO:K02833] D FGFR3 (activating mutation) [HSA:2261] [KO:K05094] D p16/INK4A (homozygous deletion or hypermethylation) [HSA:1029] [KO:K06621] D p53 (inactivating mutation or deletion) [HSA:7157] [KO:K04451] D RB1 (deletion or hyperphosphorylation) [HSA:5925] [KO:K06618] D EGFR (overexpression) [HSA:1956] [KO:K04361] D ERBB2 (overexpression) [HSA:2064] [KO:K05083] D RASSF1 (hypermethylation) [HSA:11186] [KO:K09850] D DAPK1 (hypermethylation) [HSA:1612] [KO:K08803] C H00024 Prostate cancer [PATH:hsa05215 hsa05202] D AR (amplification, mutation) [HSA:367] [KO:K08557] D CDKN1B (allelic loss) [HSA:1027] [KO:K06624] D NKX3.1 (allelic loss) (decreased expression) [HSA:4824] [KO:K09348] D PTEN (allelic loss) [HSA:5728] [KO:K01110] D GSTP1 (hypermethylation) [HSA:2950] [KO:K00799] D TMPRSS2-ERG (translocation) [HSA:7113 2078] [KO:K09633 K09435] D TMPRSS2-ETV1 (translocation) [HSA:7113 2115] [KO:K09633 K09431] D TMPRSS2-ETV4 (translocation) [HSA:7113 2118] [KO:K09633 K15592] D TMPRSS2-ETV5 (translocaiton) [HSA:7113 2119] [KO:K09633 K15593] D SLC45A3-ETV1 (translocation) [HSA:85414 2115] [KO:K15379 K09431] D SLC45A3-ELK4 (translocation) [HSA:85414 2005] [KO:K15379 K04376] D DDX5-ETV4 (translocaiton) [HSA:1655 2118] [KO:K12823 K15592] C H00023 Testicular cancer D Cyclin D2 (amplification) [HSA:894] [KO:K10151] C H00025 Penile cancer [PATH:hsa05203] D p16/INK4a (promoter hypermethylation) [HSA:1029] [KO:K06621] D BMI1 (overexpression) [HSA:648] [KO:K11459] D p53 (mutation) [HSA:7157] [KO:K04451] D MDM2 (overexpression) [HSA:4193] [KO:K06643] D H-ras (mutation) [HSA:3265] [KO:K02833] D c-MYC (mutation) [HSA:4609] [KO:K04377] D E-Cadherin (expression) [HSA:999] [KO:K05689] D MMP-2 (expression) [HSA:4313] [KO:K01398] D MMP-9 (expression) [HSA:4318] [KO:K01403] D COX-2 (expression) [HSA:5743] [KO:K11987] D PTGES2 (expression) [HSA:80142] [KO:K05309] B Cancers of endocrine organs C H00032 Thyroid cancer [PATH:hsa05216 hsa05202] D RET/PTC1 (rearrangement) [HSA:5979 8030] [KO:K05126 K09288] D RET/PTC3 (rearrangement) [HSA:5979 8031] [KO:K05126 K09289] D TPM3/NTRK1 (rearrangement) [HSA:4914 7170] [KO:K03176 K09290] D TPR/NTRK1 (rearrangement) [HSA:7175 10342] [KO:K09291 K09292] D H-ras (mutation) [HSA:3265] [KO:K02833] D K-ras (mutation) [HSA:3845] [KO:K07827] D N-ras (mutation) [HSA:4893] [KO:K07828] D BRAF (mutation) [HSA:673] [KO:K04365] D PAX8/PPARgamma (rearrangements) [HSA:7849 5468] [KO:K09293 K08530] D beta-Catenin (mutation) [HSA:1499] [KO:K02105] D p53 (mutation) [HSA:7157] [KO:K04451] D E-cadherin (downregulation) [HSA:999] [KO:K05689] C H00033 Adrenal carcinoma D ACTH-R (deletion) [HSA:4158] [KO:K04200] D GNAI2 (mutation) [HSA:2771] [KO:K04630] D N-ras (mutation) [HSA:4893] [KO:K07828] D IGF II (overexpression) [HSA:3481] [KO:K13769] D p53 (LOH, mutation) [HSA:7157] [KO:K04451] D p16/INK4A (LOH, low expression) [HSA:1028] [KO:K09993] D MEN1 (LOH, mutation) [HSA:4221] [KO:K14970] C H00045 Malignant islet cell carcinoma D MEN1 (mutation) [HSA:4221] [KO:K14970] D p16/INK4A (deletion, methylation) [HSA:1029] [KO:K06621] B Head and neck cancers C H00054 Nasopharyngeal cancer [PATH:hsa05203] D RASSF1 (promoter hypermethylation) [HSA:11186] [KO:K09850] D p16/INK4A (promoter hypermethylation) [HSA:1029] [KO:K06621] D Bcl-2 (overexpression) [HSA:596] [KO:K02161] D EDNRB (promoter hypermethylation) [HSA:1910] [KO:K04198] D TSLC1 (promoter hypermethylation) [HSA:23705] [KO:K06781] D E-cadherin (decreased expression) [HSA:999] [KO:K05689] C ------ Hypopharyngeal cancer C H00055 Laryngeal cancer D p53 (mutation) [HSA:7157] [KO:K04451] D p16/INK4A (mutation, LOH, hypermethylation) [HSA:1029] [KO:K06621] D Cyclin D1 (amplification) [HSA:595] [KO:K04503] D EGFR (amplification) [HSA:1956] [KO:K04361] D c-MYC (amplification) [HSA:4609] [KO:K04377] D Cyclin E (amplification) [HSA:898 9134] [KO:K06626] C H00016 Oral cancer D p53 (mutation, deletion) [HSA:7157] [KO:K04451] D p16/INK4A (mutation, loss of expression) [HSA:1029] [KO:K06621] D EGFR (overexpression) [HSA:1956] [KO:K04361] D c-myc/N-myc (amplification, overexpression) [HSA:4609] [KO:K04377] D N-ras (amplification) [HSA:4893] [KO:K07828] D K-ras (amplification) [HSA:3845] [KO:K07827] D Cyclin D1 (amplification) [HSA:595] [KO:K04503] D STAT-3 (expression) [HSA:6774] [KO:K04692] C ------ Oropharyngeal cancer B Cancers of the lung and pleura C H00014 Non-small cell lung cancer [PATH:hsa05223] D K-ras (mutation) [HSA:3845] [KO:K07827] D RAR-beta (promoter hypermethylation) [HSA:5915] [KO:K08528] D FHIT (mutation) [HSA:2272] [KO:K01522] D RASSF1 (promoter hypermethylation) [HSA:11186] [KO:K09850] D p16/INK4A (mutation) [HSA:1029] [KO:K06621] D p53 (mutation/deletion) [HSA:7157] [KO:K04451] D EML4-ALK (translocation) [HSA:27436 238] [KO:K15420 K05119] D TFG-ALK (translocation) [HSA:10342 238] [KO:K09292 K05119] D SLC34A2-ROS1 (translocation) [HSA:10568 6098] [KO:K14683 K05088] C H00013 Small cell lung cancer [PATH:hsa05222] D c-MYC (amplification) [HSA:4609] [KO:K04377] D RAR-beta (promoter hypermethylation) [HSA:5915] [KO:K08528] D FHIT (mutation) [HSA:2272] [KO:K01522] D p53 (LOH, mutation) [HSA:7157] [KO:K04451] D RB1 (LOH, mutation) [HSA:5925] [KO:K06618] D PTEN (mutation, deletion) [HSA:5728] [KO:K01110] D Bcl-2 (overexpression) [HSA:596] [KO:K02161] C H00015 Malignant pleural mesothelioma D p53 (inactivation) [HSA:7157] [KO:K04451] D p16/CDKN2A (deletion) [HSA:1029] [KO:K06621] D p15/CDKN2B (deletion) [HSA:1030] [KO:K04685] D NF2 (mutation) [HSA:4771] [KO:K16684] D PDGF-A (overexpression) [HSA:5154] [KO:K04359] D PDGF-B (overexpression) [HSA:5155] [KO:K04359] D IGF-1 (expression) [HSA:3479] [KO:K05459] D IGF-R1 (expression) [HSA:3480] [KO:K05087] # AImmune system diseases B Allergies and autoimmune diseases C H00079 Asthma [PATH:hsa05310] D IL4 (polymorphism) [HSA:3565] [KO:K05430] D IL4RA (polymorphism) [HSA:3566] [KO:K05071] D IL13 (polymorphism) [HSA:3596] [KO:K05435] D FCER1B (polymorphism) [HSA:2206] [KO:K08090] D TNFA (polymorphism) [HSA:7124] [KO:K03156] D ADAM33 (polymorphism) [HSA:80332] [KO:K08616] D CD14 (polymorphism) [HSA:929] [KO:K04391] D HLA-DRB1 (polymorphism) [HSA:3123] [KO:K06752] D HLA-DQB1 (polymorphism) [HSA:3119] [KO:K06752] D ADRB2 (polymorphism) [HSA:154] [KO:K04142] C H00080 Systemic lupus erythematosus [PATH:hsa05322] D HLA-DRB1 (polymorphism) [HSA:3123] [KO:K06752] D HLA-DQA1 (polymorphism) [HSA:3117] [KO:K06752] D HLA-DQB1 (polymorphism) [HSA:3119] [KO:K06752] D C2 (deletion) [HSA:717] [KO:K01332] D C4 (null alleles) [HSA:720] [KO:K03989] D TNF-alpha (polymorphism) [HSA:7124] [KO:K03156] D Fc gamma RIIA (polymorphism) [HSA:2212] [KO:K06472] D Fc gamma RIIB (polymorphism) [HSA:2213] [KO:K12560] D Fc gamma RIIIA (polymorphism) [HSA:2214] [KO:K06463] D Fc gamma RIIIB (polymorphism) [HSA:2215] [KO:K06463] D PARP (polymorphism) D CRP (polymorphism) [HSA:1401] [KO:K16143] D TLR5 (polymorphism) [HSA:7100] [KO:K10168] D PDCD1 (polymorphism) [HSA:5133] [KO:K06744] D OAZ (polymorphism) [HSA:23090] C H00081 Hashimoto's thyroiditis [PATH:hsa05320] D HLA-DRB1 (polymorphism) [HSA:3123] [KO:K06752] D HLA-DQA1 (polymorphism) [HSA:3117] [KO:K06752] D HLA-DQB1 (polymorphism) [HSA:3119] [KO:K06752] D CTLA-4 (polymorphism) [HSA:1493] [KO:K06538] C H00082 Graves' disease [PATH:hsa05320] D HLA-DRB1 (polymorphism) [HSA:3123] [KO:K06752] D HLA-DQA1 (polymorphism) [HSA:3117] [KO:K06752] D HLA-DQB1 (polymorphism) [HSA:3119] [KO:K06752] D CTLA-4 (polymorphism) [HSA:1493] [KO:K06538] C H00083 Allograft rejection [PATH:hsa05330] D TNF-alpha (polymorphism) [HSA:7124] [KO:K03156] D IL-10 (polymorphism) [HSA:3586] [KO:K05443] D TGF-beta (polymorphism) [HSA:7040 7042 7043] [KO:K13375 K13376 K13377] D IFN-gamma (polymorphism) [HSA:3458] [KO:K04687] D HLA-DMA (polymorphism) [HSA:3108] [KO:K06752] D ICAM-1 (polymorphism) [HSA:3383] [KO:K06490] D CTLA4 (polymorphism) [HSA:1493] [KO:K06538] D ACE (polymorphism) [HSA:1636] [KO:K01283] D GPIIIA (polymorphism) [HSA:3690] [KO:K06493] C H00084 Graft-versus-host disease [PATH:hsa05332] D TNF-alpha (polymorphism) [HSA:7124] [KO:K03156] D IL-10 (polymorphism) [HSA:3586] [KO:K05443] D IL1A (polymorphism) [HSA:3552] [KO:K04383] D IL-1-RA (polymorphism) [HSA:3557] [KO:K05481] D IFN-gamma (polymorphism) [HSA:3458] [KO:K04687] D IL-6 (polymorphism) [HSA:3569] [KO:K05405] D TGF-beta (polymorphism) [HSA:7040 7042 7043] [KO:K13375 K13376 K13377] D IL13 (polymorphism) [HSA:3596] [KO:K05435] D TNFRSF1B (polymorphism) [HSA:7133] [KO:K05141] D IL2 (polymorphism) [HSA:3558] [KO:K05429] C H00630 Rheumatoid arthritis [PATH:hsa05323] C H01191 Asthma with nasal polyps and aspirin intolerance D TBX21 [HSA:30009] [KO:K10166] C H01232 Syndromic multisystem autoimmune disease [PATH:hsa04120 hsa04144] D ITCH [HSA:83737] [KO:K05632] C H01275 Interleukin 1 receptor antagonist deficiency (DIRA) D IL1RN [HSA:3557] [KO:K05481] B Primary immunodeficiency C H00085 Agammaglobulinemias [PATH:hsa05340] D Btk [HSA:695] [KO:K07370] D CD79a [HSA:973] [KO:K06506] D mu (IGHM) D lamda 5(CD179B) [HSA:3543] [KO:K06554] D BLNK [HSA:29760] [KO:K07371] D LRRC8 [HSA:56262 23507 84230 55144 80131] D CD79B [HSA:974] [KO:K06507] C H00086 Hyper IgM syndromes, autosomal recessive type [PATH:hsa05340] D AID [HSA:57379] [KO:K10989] D UNG [HSA:7374] [KO:K03648] D CD40 [HSA:958] [KO:K03160] C H00087 Other humoral immunodeficiencies D DNMT3B [HSA:1789] [KO:K00558] D IGKC D Ig heavy chain C H00088 Common variable immunodeficiency [PATH:hsa05340] D ICOS [HSA:29851] [KO:K06713] D TACI [HSA:23495] [KO:K05150] D CD19 [HSA:930] [KO:K06465] D TNFRSF13C [HSA:115650] [KO:K05151] D MS4A1 [HSA:931] [KO:K06466] D CD81 [HSA:975] [KO:K06508] C H00089 IFN-gamma/IL-12 axis D IL12B [HSA:3593] [KO:K05425] D IL12RB1 [HSA:3594] [KO:K05063] D IFNGR1 [HSA:3459] [KO:K05132] D IFNGR2 [HSA:3460] [KO:K05133] D STAT1 [HSA:6772] [KO:K11220] C H00090 NK cell defects [PATH:hsa04650] D FCGR3A [HSA:2214] [KO:K06463] C H00091 T-B+ Severe combined immunodeficiencies [PATH:hsa05340] D IL2RG [HSA:3561] [KO:K05070] D JAK3 [HSA:3718] [KO:K11218] D IL7R [HSA:3575] [KO:K05072] D IL2RA [HSA:3559] [KO:K05068] D PTPRC (CD45) [HSA:5788] [KO:K06478] D delta CD3 [HSA:915] [KO:K06450] D epsilon CD3 [HSA:916] [KO:K06451] D zeta CD3 [HSA:919] [KO:K06453] D FOXN1 [HSA:8456] [KO:K09407] C H00092 T-B- Severe combined immunodeficiencies [PATH:hsa05340] D ADA [HSA:100] [KO:K01488] D RAG-1 [HSA:5896] [KO:K10628] D RAG-2 [HSA:5897] [KO:K10988] D DCLRE1C [HSA:64421] [KO:K10887] D AK2 [HSA:204] [KO:K00939] C H01244 T+B+ Severe combined immunodeficiencies D RAG-1 [HSA:5896] [KO:K10628] C H00093 Combined immunodeficiencies [PATH:hsa05340] D CD40L (TNFSF5) [HSA:959] [KO:K03161] D CD40 [HSA:958] [KO:K03160] D IL2RG [HSA:3561] [KO:K05070] D PNP [HSA:4860] [KO:K03783] D RAG1 [HSA:5896] [KO:K10628] D RAG2 [HSA:5897] [KO:K10988] D TAP1 [HSA:6890] [KO:K05653] D TAP2 [HSA:6891] [KO:K05654] D CIITA [HSA:4261] [KO:K08060] D RFX5 [HSA:5993] [KO:K08061] D RFXAP [HSA:5994] [KO:K08063] D RFXANK [HSA:8625] [KO:K08062] D Zap-70 [HSA:7535] [KO:K07360] D ORAI1 [HSA:84876] [KO:K16056] D STIM1 [HSA:6786] [KO:K16059] D LCK [HSA:3932] [KO:K05856] D CD8A [HSA:925] [KO:K06458] C H00094 DNA repair defect [PATH:hsa03440] D ATM [HSA:472] [KO:K04728] D MRE11A [HSA:4361] [KO:K10865] D NBS1(Nibrin) [HSA:4683] [KO:K10867] D RAD50 [HSA:10111] [KO:K10866] D LIG1 [HSA:3978] [KO:K10747] D LIG4 [HSA:3981] [KO:K10777] D BLM [HSA:641] [KO:K10901] C H00095 Ectodermal dysplasia associated immunodeficiency [PATH:hsa05340] D IKBKG [HSA:8517] [KO:K07210] D IKBA [HSA:4792] [KO:K04734] C H01245 Immunodeficiency without anhidrotic ectodermal dysplasia D IKBKG [HSA:8517] [KO:K07210] C H00096 Defects of toll-like receptor signaling [PATH:hsa04620] D IRAK4 [HSA:51135] [KO:K04733] C H00097 Chemokine receptor defect [PATH:hsa04060] D CXCR4 [HSA:7852] [KO:K04189] C H00098 Chronic granulomatous disease [PATH:hsa04666] D CYBB [HSA:1536] [KO:K08008] D CYBA [HSA:1535] [KO:K08009] D NCF1 [HSA:653361] [KO:K08011] D NCF2 [HSA:4688] [KO:K08010] C H00099 Leukocyte adhesion deficiency [PATH:hsa04670] D ITGB2 [HSA:3689] [KO:K06464] D SLC35C1 [HSA:55343] [KO:K15279] D FERMT3 [HSA:83706] D RAC2 [HSA:5880] [KO:K07860] C H00100 Neutropenic disorders D HAX1 [HSA:10456] [KO:K16220] D GFI1 [HSA:2672] [KO:K09223] D ELA2 [HSA:1991] [KO:K01327] D WAS [HSA:7454] [KO:K05747] C H00939 Neutropenia, severe congenital 4, autosomal recessive D G6PC3 [HSA:92579] C H01218 P14 deficiency D MAPBPIP [HSA:28956] C H00101 Other phagocyte defects D CHS1 [HSA:1130] D MYO5A [HSA:4644] [KO:K10357] D RAB27A [HSA:5873] [KO:K07885] D MLPH [HSA:79083] D ACTB [HSA:60] [KO:K05692] D CEBPE [HSA:1053] [KO:K10051] D MPO [HSA:4353] [KO:K10789] D G6PD [HSA:2539] [KO:K00036] D SBDS [HSA:51119] [KO:K14574] C H00102 Classic complement pathway component defects [PATH:hsa04610] D C1QA [HSA:712] [KO:K03986] D C1QB [HSA:713] [KO:K03987] D C1QG [HSA:714] [KO:K03988] D C1R [HSA:715] [KO:K01330] D C1S [HSA:716] [KO:K01331] D C2 [HSA:717] [KO:K01332] D C3 [HSA:718] [KO:K03990] D C4A [HSA:720] [KO:K03989] D C4B [HSA:421] C H00103 Late complement pathway defects [PATH:hsa04610] D C5 [HSA:727] [KO:K03994] D C6 [HSA:729] [KO:K03995] D C7 [HSA:730] [KO:K03996] D C8 alpha [HSA:731] [KO:K03997] D C8 beta [HSA:732] [KO:K03998] D C8 gamma [HSA:733] [KO:K03999] D C9 [HSA:735] [KO:K04000] C H00104 Alternative complement pathway component defects [PATH:hsa04610] D BF [HSA:629] [KO:K01335] D DF [HSA:1675] [KO:K01334] D HF1 [HSA:3075] [KO:K04004] D PFC [HSA:5199] [KO:K15412] C H00105 Mannose-binding lectin pathway component defects [PATH:hsa04610] D MBL2 [HSA:4153] [KO:K03991] D MASP2 [HSA:10747] [KO:K03993] C H00106 Complement regulatory protein defects [PATH:hsa04610] D SERPING1 [HSA:710] [KO:K04001] D C4BPA [HSA:722] [KO:K04002] D C4BPB [HSA:725] [KO:K04003] D IF [HSA:3426] [KO:K01333] D DAF [HSA:1604] [KO:K04006] D CD59 [HSA:966] [KO:K04008] C H00107 Other well-defined immunodeficiency syndromes [PATH:hsa05340] D WAS [HSA:7454] [KO:K05747] D TBX1 [HSA:6899] [KO:K10175] D STAT3 [HSA:6774] [KO:K04692] D TYK2 [HSA:7297] [KO:K11219] D SH2D1A [HSA:4068] [KO:K07990] D XIAP [HSA:331] [KO:K04725] D ITK [HSA:3702] [KO:K07363] D AIRE [HSA:326] [KO:K10603] D FOXP3 [HSA:50943] [KO:K10163] D RMRP [HSA:6023] C H00108 Autoimmune lymphoproliferative syndromes [PATH:hsa04210] D TNFRSF6 (Fas) [HSA:8771] [KO:K05143] D TNFSF6 (Fas ligand) [HSA:356] [KO:K04389] D Caspase 10 [HSA:843] [KO:K04400] D Caspase 8 [HSA:841] [KO:K04398] D N-Ras [HSA:4893] [KO:K07828] C H00109 Familial hemophagocyic lymphohistiocytosis D PRF1 [HSA:5551] [KO:K07818] D UNC13D [HSA:201294] D STX11 [HSA:8676] [KO:K08487] C H00540 Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID) [PATH:hsa04010 hsa04062 hsa04210 hsa04380 hsa04660 hsa04662] D IKBKG [HSA:8517] [KO:K07210] C H00924 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation [PATH:hsa03450] D NHEJ1 [HSA:79840] [KO:K10980] C H00984 Bare lymphocyte syndrome (BLS) type1 [PATH:hsa02010 hsa04145 hsa04612 hsa05340] D TAP1 [HSA:6890] [KO:K05653] D TAP2 [HSA:6891] [KO:K05654] D TAPBP [HSA:6892] [KO:K08058] C H00985 Bare lymphocyte syndrome (BLS) type2 [PATH:hsa04612 hsa05340] D CIITA [HSA:4261] [KO:K08060] D RFXANK [HSA:8625] [KO:K08062] D RFX5 [HSA:5993] [KO:K08061] D RFXAP [HSA:5994] [KO:K08063] C H00931 Growth hormone insensitivity with immunodeficiency [PATH:hsa04012 hsa04062 hsa04630] D STAT5B [HSA:6777] [KO:K11224] C H00962 RIDDLE syndrome D RNF168 [HSA:165918] C H01181 T-cell immunodeficiency congenital alopecia and nail dystrophy (TIDAND) D FOXN1 [HSA:8456] [KO:K09407] C H00721 Pyogenic bacterial infections, recurrent, due to MYD88 deficiency [PATH:hsa04210 hsa04620] D MYD88 [HSA:4615] [KO:K04729] C H01240 Immune thrombocytopenia (ITP) [PATH:hsa04145 hsa04380 hsa04666] D FCGR2C [HSA:9103] [KO:K16824] B Other immune system diseases C H00286 Crohn's disease [PATH:hsa04621] D NOD2 [HSA:64127] [KO:K10165] D SLC22A4 (polymorphysm) [HSA:6583] [KO:K08202] D SLC22A5 (polymorphysm) [HSA:6584] [KO:K08202] D TNFSF15 (polymorphysm) [HSA:9966] [KO:K05478] D IL23R (polymorphysm) [HSA:149233] [KO:K05065] D ATG16L1 (polymorphysm) [HSA:55054] C H00285 Blau syndrome [PATH:hsa04621] D NOD2 [HSA:64127] [KO:K10165] C H01309 Sarcoidosis, early-onset [PATH:hsa04621] D NOD2 [HSA:64127] [KO:K10165] C H00287 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome [PATH:hsa04621] D PSTPIP1 [HSA:9051] [KO:K12804] C H00288 Familial Mediterranean fever [PATH:hsa04621] D MEFV [HSA:4210] [KO:K12803] D MICA (polymorphysm) [HSA:100507436] [KO:K07985] C H00282 Cryopyrin associated periodic syndrome [PATH:hsa04621] D NALP3 [HSA:114548] [KO:K12800] D (FCAS) NALP12 [HSA:91662] C H00290 Aicardi-Goutieres Syndrome [PATH:hsa04623] D TREX1 [HSA:11277] [KO:K10790] D RNaseH2 [HSA:10535 79621 84153] [KO:K10743 K10744 K10745] D SAMHD1 [HSA:25939] C H00291 Familial chilblain lupus [PATH:hsa04623] D TREX1 [HSA:11277] [KO:K10790] C H00206 Mevalonate kinase deficiency [PATH:hsa00900] D MVK; mevalonate kinase [HSA:4598] [KO:K00869] C H00912 Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) [PATH:hsa04010 hsa04060 hsa04210] D TNFRSF1A [HSA:7132] [KO:K03158] C H01094 Eosinophil peroxidase deficiency [PATH:hsa05310] D EPX [HSA:8288] [KO:K10788] C H01109 Chronic Mucocutaneous Candidiasis (CMC) [PATH:hsa04621 hsa04145 hsa04060 hsa04062 hsa04620 hsa04630] D (CANDF2) CARD9 [HSA:64170] [KO:K12794] D (CANDF4) CLEC7A [HSA:64581] [KO:K10074] D (CANDF5) IL17RA [HSA:23765] [KO:K05164] D (CANDF6) IL17F [HSA:112744] [KO:K05494] D (CANDF7) STAT1 [HSA:6772] [KO:K11220] C H01117 Majeed syndrome [PATH:hsa00561 hsa00564] D LPIN2 [HSA:9663] [KO:K15728] C H01136 Carboxypeptidase N deficiency D CPN1 [HSA:1369] [KO:K01292] C H01227 Inflammatory bowel disease [PATH:hsa04060 hsa04630] D IL10RB [HSA:3588] [KO:K05135] D IL10RA [HSA:3587] [KO:K05134] # ANervous system diseases B Neurodegenerative diseases C H00056 Alzheimer's disease [PATH:hsa05010] D (AD1) APP; amyloid beta (A4) protein (mutation) [HSA:351] [KO:K04520] D (AD2) APOE; apolipoprotein E (mutation) [HSA:348] [KO:K04524] D (AD3) PSEN1; presenilin 1 (mutation) [HSA:5663] [KO:K04505] D (AD4) PSEN2; presenilin 2 (mutation) [HSA:5664] [KO:K04522] C H00066 Lewy body dementia D SNCA; synuclein, alpha (mutation, triplications) [HSA:6622] [KO:K04528] D SNCB; synuclein, beta (mutation) [HSA:6620] D LRRK2; leucine-rich repeat kinase 2 (mutation) [HSA:120892] [KO:K08844] D GBA; glucosidase, beta; acid (mutation) [HSA:2629] [KO:K01201] C H00057 Parkinson's disease [PATH:hsa05012] D (PARK1/PARK4) SNCA (mutation/duplication, triplication) [HSA:6622] [KO:K04528] D (PARK2) Parkin (mutation, genomic rearrangement) [HSA:5071] [KO:K04556] D (PARK5) UCHL1 (mutation) [HSA:7345] [KO:K05611] D (PARK6) PINK1 (mutation) [HSA:65018] [KO:K05688] D (PARK7) DJ1 (mutation) [HSA:11315] [KO:K05687] D (PARK8) LRRK2 (mutation) [HSA:120892] [KO:K08844] D (PARK9) ATP13A2 (mutation) [HSA:23400] [KO:K13526] D (PARK11) GIGYF2 (mutation) [HSA:26058] D (PARK13) HTRA2 (mutation) [HSA:27429] [KO:K08669] D (PARK14) PLA2G6 (mutation) [HSA:8398] [KO:K16343] D (PARK15) FBXO7 (mutation) [HSA:25793] [KO:K10293] D NR4A2 (mutation) [HSA:4929] [KO:K08558] C H00058 Amyotrophic lateral sclerosis [PATH:hsa05014] D (ALS1) SOD1; superoxide dismutase (mutation) [HSA:6647] [KO:K04565] D (ALS2) ALS2; alsin (mutation) [HSA:57679] [KO:K04575] D (ALS4) SETX; senataxin (mutation) [HSA:23064] [KO:K10706] D (ALS6) FUS; fusion (mutation) [HSA:2521] [KO:K13098] D (ALS8) VAPB; VAMP-associated protein (mutation) [HSA:9217] [KO:K10707] D (ALS9) ANG; angiogenin (mutation) [HSA:283] [KO:K16631] D (ALS10) TARDBP; TAR DNA binding protein (mutation) [HSA:23435] D (ALS11) FIG4; FIG4 homolog (mutation) [HSA:9896] D (ALS12) OPTN; optineurin (mutation) [HSA:10133] D NEFH; neurofilament, heavy polypeptide (deletion/insertion in KSP repeat motif) [HSA:4744] [KO:K04574] D PRPH; peripherin (deletion) [HSA:5630] [KO:K07607] D DCTN1; dynactin 1 (mutation) [HSA:1639] [KO:K04648] D MAPT; microtubule-associated protein tau [HSA:4137] [KO:K04380] C H00059 Huntington's disease [PATH:hsa05016] D HTT; huntingtin (CAG repeat expansion) [HSA:3064] [KO:K04533] C H01243 Huntington's disease-like syndrome D PRNP [HSA:5621] [KO:K05634] D HDL2 [HSA:57338] D HDL4 [HSA:6908] [KO:K03120] C H00060 Dentatorubropallidoluysian atrophy (DRPLA) D ATN1; atrophin 1 (CAG repeat expansion) [HSA:1822] [KO:K05626] C H00062 Spinal and bulbar muscular atrophy D AR; androgen receptor (CAG repeat expansion) [HSA:367] [KO:K08557] C H00063 Spinocerebellar ataxia [PATH:hsa04730 hsa03008] D (SCA1) ATXN1 (CAG repeat expansion) [HSA:6310] D (SCA2) ATXN2 (CAG repeat expansion) [HSA:6311] D (SCA3) ATXN3 (CAG repeat expansion) [HSA:4287] [KO:K11863] D (SCA5) SPTBN2; spectrin, beta, non-erythrocytic 2 (mutation) [HSA:6712] [KO:K06115] D (SCA6) CACNA1A; calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CAG repeat expansion) [HSA:773] [KO:K04344] D (SCA7) ATXN7 (CAG repeat expansion) [HSA:6314] [KO:K11318] D (SCA8) ATXN8 opposite strand (CTG/CAG repeat expansion) D (SCA10) ATXN10 (ATTCT repeat expansion) [HSA:25814] D (SCA11) TTBK2; tau tubulin kinase 2 (mutation) [HSA:146057] [KO:K08815] D (SCA12) PPP2R2B; protein phosphatase 2 (CAG repeat expansion) [HSA:5521] [KO:K04354] D (SCA13) KCNC3; potassium voltage-gated channel, Shaw-related subfamily, member 3 (mutation) [HSA:3748] [KO:K04889] D (SCA14) PRKCG; protein kinase C, gamma (mutation) [HSA:5582] [KO:K02677] D (SCA15) ITPR1; inositol 1,4,5-triphosphate receptor, type 1 (deletion) [HSA:3708] [KO:K04958] D (SCA17) TBP; TATA box binding protein (CAG repeat expansion) [HSA:6908] [KO:K03120] D (SCA23) PDYN; prodynorphin [HSA:5173] [KO:K15840] D (SCA27) FGF14; fibroblast growth factor 14 (mutation) [HSA:2259] [KO:K04358] D (SCA28) AFG3L2; AFG3 ATPase family gene 3-like 2 [HSA:10939] [KO:K08956] D (SCA31) BEAN1; brain expressed, associated with NEDD4, 1 [HSA:146227] D (SCA36) NOP56 [HSA:10528] [KO:K14564] D (SCAR5) ZNF592 [HSA:9640] D (SCAR8) SYNE1 [HSA:23345] D (SCAR9) ADCK3 [HSA:56997] [KO:K08869] D (SCAR10) ANO10 [HSA:55129] D (SCAN1) TDP1 [HSA:55775] [KO:K10862] C H00061 Prion diseases [PATH:hsa05020] D PRNP (mutation) [HSA:5621] [KO:K05634] C H00064 Ataxia telangiectasia D ATM (mutation) [HSA:472] [KO:K04728] C H00065 Alexander disease D GFAP; glial fibrillary acidic protein (mutation) [HSA:2670] [KO:K05640] C H00075 Refsum disease [PATH:hsa04146] D PHYH; phytanoyl-CoA 2-hydroxylase [HSA:5264] [KO:K00477] D PEX7; peroxisomal biogenesis factor 7 [HSA:5191] [KO:K13341] C H00067 Friedreich ataxia D FXN; frataxin (GAA repeat expansion) [HSA:2395] C H00068 Leber optic atrophy [PATH:hsa00190] D ND1; NADH dehydrogenase I, subunit 1 (mutation) [HSA:4535] [KO:K03878] D ND2; NADH dehydrogenase I, subunit 2 (mutation) [HSA:4536] [KO:K03879] D ND4; NADH dehydrogenase I, subunit 4 (mutation) [HSA:4538] [KO:K03881] D ND4L; NADH dehydrogenase I, subunit 4L (mutation) [HSA:4539] [KO:K03882] D ND5; NADH dehydrogenase I, subunit 5 (mutation) [HSA:4540] [KO:K03883] D ND6; NADH dehydrogenase I, subunit 6 (mutation) [HSA:4541] [KO:K03884] D CYTB; cytochrome b (mutation) [HSA:4519] [KO:K00412] D COX1; cytochrome c oxidase subunit I (mutation) [HSA:4512] [KO:K02256] D COX3; cytochrome c oxidase III (mutation) [HSA:4514] [KO:K02262] D ATP6; ATP synthase F0 subunit 6 (mutation) [HSA:4508] [KO:K02126] C H00076 Cockayne syndrome D (CSA) ERCC8; Excision repair cross complementing, group 8 (mutation) [HSA:1161] [KO:K10570] D (CSB) ERCC6; Excision repair cross complementing, group 6 (mutation) [HSA:2074] [KO:K10841] C H00077 Progressive supranuclear palsy D MAPT; microtubule-associated protein tau (mutation) [HSA:4137] [KO:K04380] C H00078 Frontotemporal lobar degeneration (FTLD) [PATH:hsa04010 hsa04141 hsa04144 hsa04310 hsa04330 hsa04722] D (Pick disease/ FTD/ PSNP1) MAPT [HSA:4137] [KO:K04380] D (Pick disease/ FTD) PSEN1 [HSA:5663] [KO:K04505] D (UP-FTD) GRN [HSA:2896] D (IBMPFD) VCP [HSA:7415] [KO:K13525] D (FTD3) CHMP2B [HSA:25978] [KO:K12192] C H00074 Canavan disease [PATH:hsa00250] D ASPA; aspartoacylase [HSA:443] [KO:K01437] C H00264 Charcot-Marie-Tooth disease (CMT) [PATH:hsa00970] D (CMT1A/1E) PMP22 [HSA:5376] D (CMT1B/2I/2J/4E) MPZ [HSA:4359] [KO:K06770] D (CMT1C) LITAF [HSA:9516] D (CMT1D/4E) EGR2 [HSA:1959] [KO:K12496] D (CMT1F/2E) NEFL [HSA:4747] [KO:K04572] D (CMT2A1) KIF1B [HSA:23095] [KO:K10392] D (CMT2A2/6) MFN2 [HSA:9927] [KO:K06030] D (CMT2B) RAB7A [HSA:7879] [KO:K07897] D (CMT2B1) LMNA [HSA:4000] [KO:K12641] D (CMT2B2) MED25 [HSA:81857] [KO:K15168] D (CMT2D) GARS [HSA:2617] [KO:K01880] D (CMT2F) HSPB1 [HSA:51668] D (CMT2K/4A/RIA) GDAP1 [HSA:78997] D (CMT2L) HSPB8 [HSA:26353] [KO:K08879] D (CMT2M/DIB) DNM2 [HSA:1785] [KO:K01528] D (CMT2N) AARS [HSA:16] [KO:K01872] D (CMT4B1) MTMR2 [HSA:8898] [KO:K01112] D (CMT4B2) SBF2 [HSA:81846] D (CMT4C/MNMN) SH3TC2 [HSA:79628] D (CMT4D) NDRG1 [HSA:10397] D (CMT4F) PRX [HSA:57716] D (CMT4H) FGD4 [HSA:121512] [KO:K05723] D (CMT4J) FIG4 [HSA:9896] D (CMTX1) GJB1 [HSA:2705] [KO:K07620] D (CMTX5) PRPS1 [HSA:5631] [KO:K00948] D (CMTDIC) YARS [HSA:8565] [KO:K01866] D (CMTRIB) KARS [HSA:3735] [KO:K04567] C H00440 Rett syndrome D MECP2 [HSA:4204] [KO:K11588] D FOXG1B [HSA:2290] [KO:K09385] C H00455 Spinal muscular atrophy (SMA) [PATH:hsa03013] D (SMA1,2,3,4) SMN1 [HSA:6606] [KO:K13129] D (SMA3) SMN2 [HSA:6607] [KO:K13129] D (SMA1) NAIP [HSA:4671] [KO:K12807] D (SMAX2) UBE1 [HSA:7317] [KO:K03178] D (DSMAX) SMAX3 [HSA:538] [KO:K01533] D (DSMA4) PLEKHG5 [HSA:57449] D (SMAL) TRPV4 [HSA:59341] [KO:K04973] D (SMAPAD) VAPB [HSA:9217] [KO:K10707] C H00833 Neurodegeneration with brain iron accumulation (NBIA) [PATH:hsa00564 hsa00565 hsa00590 hsa00591 hsa00770 hsa00860 hsa04664 hsa04666 hsa04726 hsa04730 hsa04978] D (NBIA1) PANK2 [HSA:80025] [KO:K09680] D (NBIA2A, NBIA2B) PLA2G6 [HSA:8398] [KO:K16343] D (NBIA3) FTL [HSA:2512] [KO:K13625] D (Aceruloplasminemia) CP [HSA:1356] [KO:K13624] D (SPG35) FA2H [HSA:79152] D ATP13A2 [HSA:23400] [KO:K13526] C H00841 Infantile progressive bulbar palsy D RFT2 [HSA:113278] [KO:K14620] C H00816 Agenesis of the corpus callosum with peripheral neuropathy (ACCPN) D SLC12A6 [HSA:9990] [KO:K14427] C H00839 Porencephaly [PATH:hsa04510 hsa04512] D COL4A1 [HSA:1282] [KO:K06237] C H00840 Band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) [PATH:hsa04514 hsa04530 hsa04670] D OCLN [HSA:100506658] [KO:K06088] C H00879 Perry syndrome D DCTN1 [HSA:1639] [KO:K04648] C H00845 Familial amyloidosis [PATH:hsa04975 hsa04977 hsa04610 hsa04970 hsa04810] D TTR [HSA:7276] D APOA1 [HSA:335] [KO:K08757] D APOA2 [HSA:336] [KO:K08758] D FGA [HSA:2243] [KO:K03903] D LYZ [HSA:4069] [KO:K13915] D GSN [HSA:2934] [KO:K05768] C H00860 Benign hereditary chorea D TTF1 [HSA:7270] [KO:K15225] C H00897 Pontocerebellar hypoplasia [PATH:hsa00970] D (PCH1) VRK1 [HSA:7443] [KO:K08816] D (PCH2A/4/5) TSEN54 [HSA:283989] [KO:K15326] D (PCH2B) TSEN2 [HSA:80746] [KO:K15322] D (PCH2C) TSEN34 [HSA:79042] [KO:K15323] D (PCH6) RARS2 [HSA:57038] [KO:K01887] C H00898 Myopathy with lactic acidosis and sideroblastic anaemia (MLASA) [PATH:hsa00970] D (MLASA1) PUS1 [HSA:80324] [KO:K06173] D (MLASA2) YARS2 [HSA:51067] [KO:K01866] D (HML) ISCU [HSA:23479] C H00970 Juvenile primary lateral sclerosis D ALS2 [HSA:57679] [KO:K04575] C H01030 Lethal arthrogryposis with anterior horn cell disease D GLE1 [HSA:2733] C H01115 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) D ABHD12 [HSA:26090] [KO:K13704] C H01146 Aminoacylase 1 deficiency [PATH:hsa00330] D ACY1 [HSA:95] [KO:K14677] C H01177 Infantile bilateral striatal necrosis (IBSN) [PATH:hsa03013 hsa00190] D NUP62 [HSA:23636] [KO:K14306] D MT-ATP6 [HSA:4508] [KO:K02126] C H01184 Familial dementia D ITM2B [HSA:9445] C H01185 Cerebral amyloid angiopathy (CAA) [PATH:hsa04726] D CST3 [HSA:1471] [KO:K13899] D APP [HSA:351] [KO:K04520] C H01212 Familial encephalopathy with neuroserpin inclusion bodies (FENIB) D SERPINI1 [HSA:5274] C H01259 Giant axonal neuropathy D GAN [HSA:8139] [KO:K10453] C H01295 Neurodegeneration due to cerebral folate transport deficiency [PATH:hsa04144] D FOLR1 [HSA:2348] [KO:K13649] B Other nervous and sensory system diseases C H00524 TRPV4-related peripheral neuropathies D TRPV4 [HSA:59341] [KO:K04973] C H00481 Cone-rod dystrophy (CORD) and cone dystrophy (COD) [PATH:hsa04744 hsa00230] D (CORD2) CRX [HSA:1406] [KO:K09337] D (CORD3) ABCA4 [HSA:24] [KO:K05644] D (CORD5) PITPNM3 [HSA:83394] D (CORD6/RCD2) GUCY2D [HSA:3000] [KO:K12321] D (CORD7) RIMS1 [HSA:22999] [KO:K15291] D (CORD9) ADAM9 [HSA:8754] [KO:K06834] D (CORD10) SEMA4A [HSA:64218] [KO:K06521] D (CORD11) RAX2 [HSA:84839] [KO:K09333] D (CORD12) PROM1 [HSA:8842] [KO:K06532] D (CORD13) RPGRIP1 [HSA:57096] [KO:K16512] D (CORD14/ COD3) GUCA1A [HSA:2978] [KO:K08328] D (CORD15) CDHR1 [HSA:92211] [KO:K16501] D (CORDX1/COD1) RPGR [HSA:6103] D (CORDX3) CACNA1F [HSA:778] [KO:K04853] D (COD4) PDE6C [HSA:5146] [KO:K13757] D (RCD3A) PDE6H [HSA:5149] [KO:K13760] D (RCD3B) KCNV2 [HSA:169522] [KO:K04935] D (RCD4) CACNA2D4 [HSA:93589] [KO:K04861] C H00527 Retinitis pigmentosa (RP) [PATH:hsa04744 hsa00830 hsa03040] D (RP1) RP1 [HSA:6101] D (RP2) RP2 [HSA:6102] D (RP3/RP15) RPGR [HSA:6103] D (RP4) RHO [HSA:6010] [KO:K04250] D (RP7) PRPH2 [HSA:5961] [KO:K07607] D (RP9) RP9 [HSA:6100] D (RP10) IMPDH1 [HSA:3614] [KO:K00088] D (RP11) PRPF31 [HSA:26121] [KO:K12844] D (RP12) CRB1 [HSA:23418] [KO:K16681] D (RP13) PRPF8 [HSA:10594] [KO:K12856] D (RP14) TULP1 [HSA:7287] D (RP17) CA4 [HSA:762] [KO:K01672] D (RP18) PRPF3 [HSA:9129] [KO:K12843] D (RP19) ABCA4 [HSA:24] [KO:K05644] D (RP20) RPE65 [HSA:6121] [KO:K11158] D (RP25) EYS [HSA:346007] D (RP26) CERKL [HSA:375298] D (RP27) NRL [HSA:4901] [KO:K09038] D (RP28) FAM161A [HSA:84140] [KO:K16772] D (RP30) FSCN2 [HSA:25794] D (RP31) TOPORS [HSA:10210] [KO:K10631] D (RP33) SNRNP200 [HSA:23020] [KO:K12854] D (RP35) SEMA4A [HSA:64218] [KO:K06521] D (RP36) PRCD [HSA:768206] D (RP37) NR2E3 [HSA:10002] [KO:K08546] D (RP38) MERTK [HSA:10461] [KO:K05117] D (RP39) USH2A [HSA:7399] D (RP40) PDE6B [HSA:5158] [KO:K13756] D (RP41) PROM1 [HSA:8842] [KO:K06532] D (RP42) KLHL7 [HSA:55975] [KO:K10445] D (RP43) PDE6A [HSA:5145] [KO:K08718] D (RP44) RGR [HSA:5995] [KO:K04254] D (RP45) CNGB1 [HSA:1258] [KO:K04952] D (RP46) IDH3B [HSA:3420] [KO:K00030] D (RP47) SAG [HSA:6295] D (RP48) GUCA1B [HSA:2979] [KO:K08328] D (RP49) CNGA1 [HSA:1259] [KO:K04948] D (RP50) BEST1 [HSA:7439] [KO:K13878] D (RP54) C2orf71 [HSA:388939] D (RP55) ARL6 [HSA:84100] [KO:K07951] D (RP56) IMPG2 [HSA:50939] D (RP57) PDE6G [HSA:5148] [KO:K13759] D (RP58) ZNF513 [HSA:130557] D (ARRP) SPATA7 [HSA:55812] D (Juvenile) LRAT [HSA:9227] [KO:K00678] D (Bothnia retinal dystrophy) RLBP1 [HSA:6017] C H00577 Syndromic X-linked mental retardation with epilepsy or seizures [PATH:hsa04080 hsa04010 hsa04360 hsa04510 hsa04514 hsa04723 hsa04724 hsa04728 hsa04730] D (WS/PRTS/ACCAG) ARX [HSA:170302] [KO:K09452] D (XMRE) ATP6AP2 [HSA:10159] D (MRXHF1) ATRX [HSA:546] [KO:K10779] D (MRXSO) OPHN1 [HSA:4983] D (XELBD) SYN1 [HSA:6853] D (MRXSC) SLC9A6 [HSA:10479] [KO:K12041] D (XL-CDS) SLC6A8 [HSA:6535] [KO:K05039] D (RENS1) PQBP1 [HSA:10084] [KO:K12865] D (EFMR) PCDH19 [HSA:57526] [KO:K16499] D (PVNH) FLNA [HSA:2316] [KO:K04437] D (XLH) L1CAM [HSA:3897] [KO:K06550] D (MRXSJ) SMCX [HSA:8242] [KO:K11446] D (BFLS) PHF6 [HSA:84295] D (MRX72) RAB39B [HSA:116442] [KO:K07925] D (MRXSYP) SYP [HSA:6855] D (MRX91) ZDHHC15 [HSA:158866] D (MRXSW) GRIA3 [HSA:2892] [KO:K05199] D (Stocco dos Santos) SHROOM4 [HSA:57477] D (CKS) NSDHL [HSA:50814] [KO:K07748] D (MRXHF1) CASK [HSA:8573] [KO:K06103] D (Rolandic epilepsy) SRPX2 [HSA:27286] C H00589 Familial exudative vitreoretinopathy (FEVR) [PATH:hsa04310] D (EVR1) FZD4 [HSA:8322] [KO:K02354] D (EVR2/ND) NDP [HSA:4693] D (EVR4) LRP5 [HSA:4041] [KO:K03068] D (EVR5) TSPAN12 [HSA:23554] C H00604 Deafness, autosomal dominant D DIAPH1 [HSA:1729] [KO:K05740] D GJB3 [HSA:2707] [KO:K07622] D MYH14 [HSA:79784] [KO:K10352] D GJB6 [HSA:10804] [KO:K07625] D WFS1 [HSA:7466] [KO:K14020] D KCNQ4 [HSA:9132] [KO:K04929] D GJB2 [HSA:2706] [KO:K07621] D DFNA5 [HSA:1687] D COCH [HSA:1690] D MYO7A [HSA:4647] [KO:K10359] D TECTA [HSA:7007] D EYA4 [HSA:2070] D COL11A2 [HSA:1302] [KO:K06236] D POU4F3 [HSA:5459] [KO:K09366] D MYH9 [HSA:4627] [KO:K10352] D ACTG1 [HSA:71] [KO:K05692] D SIX1 [HSA:6495] [KO:K15614] D SLC17A8 [HSA:246213] [KO:K12302] D GRHL2 [HSA:79977] [KO:K09275] D TMC1 [HSA:117531] D DSPP [HSA:1834] D CCDC50 [HSA:152137] D MYO1A [HSA:4640] [KO:K10356] D MIR96 [HSA:407053] D MYO6 [HSA:4646] [KO:K10358] C H00605 Deafness, autosomal recessive D GJB2 [HSA:2706] [KO:K07621] D GJB6 [HSA:10804] [KO:K07625] D MYO7A [HSA:4647] [KO:K10359] D MYO15 [HSA:51168] [KO:K10361] D SLC26A4 [HSA:5172] [KO:K14702] D TMIE [HSA:259236] D TMC1 [HSA:117531] D TMPRSS3 [HSA:64699] [KO:K09634] D OTOF [HSA:9381] D CDH23 [HSA:64072] [KO:K06813] D STRC [HSA:161497] D USH1C [HSA:10083] D TECTA [HSA:7007] D OTOA [HSA:146183] D PCDH15 [HSA:65217] [KO:K16500] D CLDN14 [HSA:23562] [KO:K06087] D MYO3A [HSA:53904] [KO:K08834] D WHRN [HSA:25861] D ESPN [HSA:83715] D MYO6 [HSA:4646] [KO:K10358] D COL11A2 [HSA:1302] [KO:K06236] D GJB3 [HSA:2707] [KO:K07622] D GJA1 [HSA:2697] [KO:K07372] D SLC26A5 [HSA:375611] [KO:K14703] D GRXCR1 [HSA:389207] D TRIOBP [HSA:11078] D ESRRB [HSA:2103] [KO:K08553] D HGF [HSA:3082] [KO:K05460] D MARVELD2 [HSA:153562] D PJVK [HSA:494513] D LRTOMT [HSA:220074] D LHFPL5 [HSA:222662] D MSRB3 [HSA:253827] [KO:K07305] D LOXHD1 [HSA:125336] D TPRN [HSA:286262] D GPSM2 [HSA:29899] [KO:K15837] D PTPRQ [HSA:374462] [KO:K16910] D SERPINB6 [HSA:5269] [KO:K13963] D RDX [HSA:5962] [KO:K05762] D FGF3 [HSA:2248] [KO:K04358] C H01209 Deafness, X-linked D PRPS1 [HSA:5631] [KO:K00948] D POU3F4 [HSA:5456] [KO:K09365] C H00612 Primary open angle glaucoma [PATH:hsa03008] D (GLC1A) MYOC [HSA:4653] D (GLC1A) CYP1B1 [HSA:1545] [KO:K07410] D (GLC1E) OPTN [HSA:10133] D (GLC1G) WDR36 [HSA:134430] [KO:K14554] D (GLC1O) NTF4 [HSA:4909] [KO:K12457] C H00620 Axenfeld-Rieger syndrome (ARS) [PATH:hsa04350] D PITX2 [HSA:5308] [KO:K04686] D FOXC1 [HSA:2296] [KO:K09396] C H00633 Duane retraction syndrome D CHN1 (alternative splicing) [HSA:1123] C H00634 Duane-radial ray syndrome D SALL4 [HSA:57167] C H00635 Aniridia D PAX6 [HSA:5080] [KO:K08031] C H00676 Congenital primary aphakia D FOXE3 [HSA:2301] [KO:K09398] C H00662 Ectopia lentis D FBN1 [HSA:2200] [KO:K06825] D ADAMTSL4 [HSA:54507] C H00659 Shprintzen-Goldberg syndrome D FBN1 [HSA:2200] [KO:K06825] C H00690 Aland Island eye disease D CACNA1F [HSA:778] [KO:K04853] C H00749 Episodic ataxias [PATH:hsa04010 hsa04020 hsa04260 hsa04721 hsa04724 hsa04725 hsa04727 hsa04728 hsa04730] D (EA1) KCNA1 [HSA:3736] [KO:K04874] D (EA2) CACNA1A [HSA:773] [KO:K04344] D (EA5) CACNB4 [HSA:785] [KO:K04865] D (EA6) SLC1A3 [HSA:6507] [KO:K05614] C H00769 Hyperekplexia [PATH:hsa04080] D GLRA1 [HSA:2741] [KO:K05193] D GLRB [HSA:2743] [KO:K05196] D GPHN [HSA:10243] [KO:K15376] D ARHGEF9 [HSA:23229] D SLC6A5 [HSA:9152] [KO:K05038] C H00770 Congenital myasthenic syndrome [PATH:hsa04080 hsa00564 hsa04725 hsa04512] D CHRNE [HSA:1145] [KO:K04817] D CHRNA1 [HSA:1134] [KO:K04803] D CHRNB1 [HSA:1140] [KO:K04812] D CHRND [HSA:1144] [KO:K04816] D COLQ [HSA:8292] D CHAT [HSA:1103] [KO:K00623] D RAPSN [HSA:5913] D SCN4A [HSA:6329] [KO:K04837] D MUSK [HSA:4593] [KO:K05129] D DOK7 [HSA:285489] D AGRN [HSA:375790] [KO:K06254] C H00772 Paroxysmal extreme pain disorder (PEPD) D SCN9A [HSA:6335] [KO:K04841] C H00774 Nav1.7-associated congenital insensitivity to pain (CIP) D SCN9A [HSA:6335] [KO:K04841] C H00775 Familial or sporadic hemiplegic migraine [PATH:hsa04010 hsa04020 hsa04260 hsa04721 hsa04724 hsa04725 hsa04727 hsa04728 hsa04730] D (FHM1, SHM1) CACNA1A [HSA:773] [KO:K04344] D (FHM2, SHM2) ATP1A2 [HSA:477] [KO:K01539] D (FHM3) SCN1A [HSA:6323] [KO:K04833] C H00776 Congenital motor nystagmus (CMN) D (NYS1) FRMD7 [HSA:90167] D (NYS6) GPR143 [HSA:4935] [KO:K08470] C H00779 Usher syndrome (US) D (USH1B) MYO7A [HSA:4647] [KO:K10359] D (USH1C) USH1C [HSA:10083] D (USH1D/1DF) CDH23, USH1D [HSA:64072] [KO:K06813] D (USH1F/ 1DF) PCDH15 [HSA:65217] [KO:K16500] D (USH1G) USH1G [HSA:124590] D (USH2A) USH2A [HSA:7399] D (USH2B/2C) GPR98 [HSA:84059] D (USH2D) WHRN [HSA:25861] D (USH3A) CLRN1 [HSA:7401] C H00783 Febrile seizures [PATH:hsa04728 hsa04080 hsa04727] D (FEB3A/GEFS+2/SMEI) SCN1A [HSA:6323] [KO:K04833] D (FEB3B/GEFS+7) SCN9A [HSA:6335] [KO:K04841] D (FEB4) GPR98 [HSA:84059] D (FEB8/GEFS+3/SMEI) GABRG2 [HSA:2566] [KO:K05186] D (GEFS+1) SCN1B [HSA:6324] [KO:K04845] D (GEFS+5) GABRD [HSA:2563] [KO:K05184] C H00787 Congenital stationary night blindness (CSNB) [PATH:hsa04744 hsa04010 hsa04020 hsa04080 hsa04724] D (CSNB1A) NYX [HSA:60506] [KO:K08129] D (CSNB1B) GRM6 [HSA:2916] [KO:K04608] D (CSNB1C) TRPM1 [HSA:4308] [KO:K04976] D (CSNB2A) CACNA1F [HSA:778] [KO:K04853] D (CSNB2B) CABP4 [HSA:57010] D (CSNBAD1) RHO [HSA:6010] [KO:K04250] D (CSNBAD2) PDE6B [HSA:5158] [KO:K13756] D (CSNBAD3) GNAT1 [HSA:2779] [KO:K04631] D (CSNBO1) SAG [HSA:6295] D (CSNBO2) GRK1 [HSA:6011] [KO:K00909] C H00732 Sorsby fundus dystrophy D TIMP3 [HSA:7078] [KO:K16866] C H00803 Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME) D KCNJ10 [HSA:3766] [KO:K05003] C H00805 Vitreoretinal degeneration [PATH:hsa04510 hsa04512 hsa04514] D (STL1) COL2A1 [HSA:1280] [KO:K06236] D (STL2) COL11A1 [HSA:1301] [KO:K06236] D (SVD) KCNJ13 [HSA:3769] [KO:K05006] D (WGN1) CSPG2 [HSA:1462] [KO:K06793] D (KNO) COL18A1 [HSA:80781] [KO:K06823] D (ESCS) NR2E3 [HSA:10002] [KO:K08546] D (ADVIRC) BEST1 [HSA:7439] [KO:K13878] C H00806 Benign familial neonatal and infantile epilepsies [PATH:hsa04725] D (BFNE) KCNQ2 [HSA:3785] [KO:K04927] D (BFNE) KCNQ3 [HSA:3786] [KO:K04928] D (BFNIE) SCN2A [HSA:6326] [KO:K04834] C H00807 Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) [PATH:hsa04080 hsa04725] D CHRNA4 [HSA:1137] [KO:K04806] D CHRNB2 [HSA:1141] [KO:K04813] D CHRNA2 [HSA:1135] [KO:K04804] C H00808 Idiopathic generalied epilepsies (IGEs) [PATH:hsa04080 hsa04978 hsa04727 hsa04010 hsa04260] D (JAE, ECA3) CLCN2 [HSA:1181] [KO:K05011] D (ECA2) GABRG2 [HSA:2566] [KO:K05186] D (ECA4, EJM4) GABRA1 [HSA:2554] [KO:K05175] D (EJM1) EFHC1 [HSA:114327] D (EJM5) CACNB4 [HSA:785] [KO:K04865] D (FIME) TBC1D24 [HSA:57465] C H00809 Autosomal dominant temporal lobe epilepsy (ADTLE) D LGI1 [HSA:9211] C H00810 Progressive myoclonic epilepsy (PME) [PATH:hsa00062 hsa00970 hsa00511 hsa00600 hsa04120 hsa04142 hsa04310] D (LBD) EPM2A [HSA:7957] [KO:K14165] D (LBD) NHLRC1 [HSA:378884] [KO:K10602] D (LBD) PRICKLE1 [HSA:144165] [KO:K04511] D (ULD) CSTB [HSA:1476] [KO:K13907] D (CLN1) PPT1 [HSA:5538] [KO:K01074] D (CLN2) TPP1 [HSA:1200] [KO:K01279] D (CLN3) CLN3 [HSA:1201] [KO:K12389] D (CLN5) CLN5 [HSA:1203] [KO:K12390] D (CLN6) CLN6 [HSA:54982] [KO:K12359] D (CLN7) MFSD8 [HSA:256471] [KO:K12307] D (CLN8) CLN8 [HSA:2055] [KO:K12360] D (CLN10) CTSD [HSA:1509] [KO:K01379] D (DRPLA) SCARB2 [HSA:950] [KO:K12384] D (Sialidosis) NEU1 [HSA:4758] [KO:K01186] D (GD III) NEU1 [HSA:2629] [KO:K01201] D (MERRF) MTTK [HSA:4566] [KO:K14229] D (MERRF) MTTL1 [HSA:4567] [KO:K14228] D (MERRF) MTTH [HSA:4564] [KO:K14226] D (MERRF) MTTS1 [HSA:4574] [KO:K14233] D (MERRF) MTTS2 [HSA:4575] [KO:K14233] D (MERRF) MTTF [HSA:4558] [KO:K14231] D (EPM3) KCTD7 [HSA:154881] C H00814 Vitelliform macular dystrophy D (VMD2/ AVMD/ ARB) BEST1 [HSA:7439] [KO:K13878] D (AVMD) PRPH2 [HSA:5961] [KO:K07607] C H00819 Stargardt disease (STGD) [PATH:hsa02010 hsa00062] D (STGD1) ABCA4 [HSA:24] [KO:K05644] D (STGD1) CNGB3 [HSA:54714] [KO:K04953] D (STGD3) ELOVL4 [HSA:6785] [KO:K10249] D (STGD4) PROM1 [HSA:8842] [KO:K06532] C H00821 Macular degeneration [PATH:hsa02010 hsa03420 hsa04145 hsa04620 hsa04060 hsa04062] D (ARMD1) HMCN1 [HSA:83872] D (ARMD2) ABCA4 [HSA:24] [KO:K05644] D (ARMD3) FBLN5 [HSA:10516] D (ARMD4) HF1 [HSA:3075] [KO:K04004] D (ARMD5) ERCC6 [HSA:2074] [KO:K10841] D (ARMD6) RAX2 [HSA:84839] [KO:K09333] D (ARMD7) HTRA1 [HSA:5654] [KO:K08784] D (ARMD8) ARMS2 [HSA:387715] D (ARMD9) C3 [HSA:718] [KO:K03990] D (ARMD10) TLR4 [HSA:7099] [KO:K10160] D (ARMD11) CST3 [HSA:1471] [KO:K13899] D (ARMD12) CX3CR1 [HSA:1524] [KO:K04192] D (PDREP) PRPH2 [HSA:5961] [KO:K07607] D (MCDR2) PROM1 [HSA:8842] [KO:K06532] D (MDXLA) RPGR [HSA:6103] C H00825 Familial flecked retina syndrome [PATH:hsa00830 hsa04744] D (DHRD) EFEMP1 [HSA:2202] D (BLD) CFH [HSA:3075] [KO:K04004] D (FA) RDH5 [HSA:5959] [KO:K00061] D (RPA) RLBP1 [HSA:6017] D (RPA) RHO [HSA:6010] [KO:K04250] D (BCD) CYP4V2 [HSA:285440] [KO:K07427] C H00831 Primary dystonia [PATH:hsa00350 hsa00790 hsa04260 hsa04728 hsa04976 hsa04920 hsa05012] D (DYT1) TOR1A [HSA:1861] D (DYT3) TAF1 [HSA:6872] [KO:K03125] D (DYT6) THAP1 [HSA:55145] D (DYT5) GCH1 [HSA:2643] [KO:K01495] D (DRD) SPR [HSA:6697] [KO:K00072] D (THD) TH [HSA:7054] [KO:K00501] D (DYT11) SGCE [HSA:8910] D (DYT12) ATP1A3 [HSA:478] [KO:K01539] D (DYT16) PRKRA [HSA:8575] D (DYT8) MR1 [HSA:25953] D (DYT18) GLUT1 [HSA:6513] [KO:K07299] C H00832 Core neuroacanthocytosis syndromes [PATH:hsa00770] D (ChAc) VPS13A [HSA:23230] D (MLS) XK [HSA:7504] D (HDL2) JPH3 [HSA:57338] D (PKAN) PANK2 [HSA:80025] [KO:K09680] C H00836 GLUT1 deficiency syndrome (GLUT1DS) [PATH:hsa04976 hsa04920] D GLUT1 [HSA:6513] [KO:K07299] C H00837 Leber congenital amaurosis (LCR) [PATH:hsa00230 hsa00830 hsa04744] D (LCR1) GUCY2D [HSA:3000] [KO:K12321] D (LCA2) RPE65 [HSA:6121] [KO:K11158] D (LCA3) SPATA7 [HSA:55812] D (LCA4) AIPL1 [HSA:23746] D (LCA5) LCA5 [HSA:167691] D (LCA6) RPGRIP1 [HSA:57096] [KO:K16512] D (LCA7) CRX [HSA:1406] [KO:K09337] D (LCA8) CRB1 [HSA:23418] [KO:K16681] D (LCA10) CEP290 [HSA:80184] [KO:K16533] D (LCA11) IMPDH1 [HSA:3614] [KO:K00088] D (LCA12) RD3 [HSA:343035] D (LCA13) RDH12 [HSA:145226] [KO:K11153] D (LCA14) LRAT [HSA:9227] [KO:K00678] D (LCA15) TULP1 [HSA:7287] D (LCA16) KCNJ13 [HSA:3769] [KO:K05006] C H00848 Ataxia with ocular apraxia (AOA) [PATH:hsa03440 hsa03450 hsa04110 hsa04115 hsa04210] D (AT) ATM [HSA:472] [KO:K04728] D (ATLD) MRE11A [HSA:4361] [KO:K10865] D (AOA1) APTX [HSA:54840] [KO:K10863] D (AOA2) SETX [HSA:23064] [KO:K10706] C H00820 Bjornstad syndrome D BCS1L [HSA:617] [KO:K08900] C H00854 Wolfram syndrome (WFS) [PATH:hsa04141] D (WFS1) WFS1 [HSA:7466] [KO:K14020] D (WFS2) CISD2 [HSA:493856] C H00799 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome [PATH:hsa04130] D SNAP29 [HSA:9342] [KO:K08509] C H00789 Keratoconus D VSX1 [HSA:30813] [KO:K09335] C H00732 Sorsby fundus dystrophy D TIMP3 [HSA:7078] [KO:K16866] C H00726 Meesmann corneal dystrophy D KRT3 [HSA:3850] [KO:K07605] D KRT12 [HSA:3859] [KO:K07604] C H00838 Congenital fibrosis of the extraocular muscles (CFEOM) [PATH:hsa04145 hsa04540] D (CFEOM1, CFEOM3B) KIF21A [HSA:55605] [KO:K10395] D (CFEOM2) PHOX2A [HSA:401] [KO:K09330] D (CFEOM3A) TUBB3 [HSA:10381] [KO:K07375] C H00856 Distal hereditary motor neuropathies (dHMN) [PATH:hsa04010 hsa04370 hsa00970 hsa04145 hsa04962 hsa04978] D (dHMN1/2) HSPB1 [HSA:3315] [KO:K04455] D (dHMN1/2) HSPB8 [HSA:26353] [KO:K08879] D (dHMN2) HSPB3 [HSA:26353] [KO:K08879] D (dHMN1/5) GARS [HSA:2617] [KO:K01880] D (dHMN1) DYNC1H1 [HSA:1778] [KO:K10413] D (dHMN2/5/dHMN and pyramidal features) BSCL2 [HSA:26580] D (dHMN6) IGHMBP2 [HSA:3508] D (dHMN7) DCTN1 [HSA:1639] [KO:K04648] D (dHMN7/Congenital distal SMA) TRPV4 [HSA:59341] [KO:K04973] D (X-linked dHMN) ATP7A [HSA:538] [KO:K01533] D (dHMN and pyramidal features) SETX [HSA:23064] [KO:K10706] C H00869 Leukoencephalopathy with vanishing white matter [PATH:hsa03013] D EIF2B1 [HSA:1967] [KO:K03239] D EIF2B2 [HSA:8892] [KO:K03754] D EIF2B3 [HSA:8891] [KO:K03241] D EIF2B4 [HSA:8890] [KO:K03680] D EIF2B5 [HSA:8893] [KO:K03240] C H00871 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) [PATH:hsa00970] D DARS2 [HSA:55157] [KO:K01876] C H00874 Leukoencephalopathy with dystonia and motor neuropathy [PATH:hsa00120 hsa03320 hsa04146] D SCP2 [HSA:6342] [KO:K08764] C H00875 Megalencephalic leukoencephalopathy with subcortical cysts (MLC) D (MLC1) MLC1 [HSA:23209] D (MLC2A, MLC2B) HEPACAM [HSA:220296] C H00878 Cystic leukoencephalopathy without megalencephaly D RNASET2 [HSA:8635] [KO:K01166] C H00868 Stapes ankylosis with broad thumb and toes [PATH:hsa04350] D NOG [HSA:9241] [KO:K04658] C H00885 Hypomelanosis of Ito D chromosomal mosaicism C H00913 Choreoathetosis, hypothyroidism, and neonatal respiratory distress D NKX2-1 [HSA:7080] [KO:K09342] C H00921 Revesz syndrome D TINF2 [HSA:26277] [KO:K11112] C H00946 Arts syndrome [PATH:hsa00030 hsa00230 hsa01100] D PRPS1 [HSA:5631] [KO:K00948] C H00949 Focal dermal hypoplasia [PATH:hsa04310] D PORCN [HSA:64840] [KO:K00181] C H00951 Reis-Bucklers corneal dystrophy (RBCD) D TGFBI [HSA:7045] C H00952 Thiel-Behnke dystrophies (TBCD) D TGFBI [HSA:7045] C H00953 Gelatinous drop-like corneal dystrophy (GDCD) D TACSTD2 [HSA:4070] C H00954 Macular corneal dystrophy (MCD) [PATH:hsa00533] D CHST6 [HSA:4166] [KO:K09671] C H00955 Granular corneal dystrophies (GCD) D TGFBI [HSA:7045] C H00956 Lattice corneal dystrophies (LCD) [PATH:hsa04810] D (LCDI, LCDIII) TGFBI [HSA:7045] D (LCDII) GSN [HSA:2934] [KO:K05768] C H00957 Fleck corneal dystrophy (FCD) [PATH:hsa00562 hsa04070 hsa04145 hsa04810] D PIP5K3 [HSA:200576] [KO:K00921] C H00958 Congenital stromal corneal dystrophy (CSCD) [PATH:hsa04350] D DCN [HSA:1634] [KO:K04660] C H00959 Schnyder corneal dystrophy (SCD) D UBIAD1 [HSA:29914] C H00960 Fuchs corneal dystrophy (FECD) D (FECD1) COL8A2 [HSA:1296] D (FECD4) SLC4A11 [HSA:83959] [KO:K13862] D (FECD6) TCF8 [HSA:6935] [KO:K09299] C H00961 Posterior polymorphous corneal dystrophy (PPCD) D (PPCD1) VSX1 [HSA:30813] [KO:K09335] D (PPCD2) COL8A2 [HSA:1296] D (PPCD3) ZEB1 [HSA:6935] [KO:K09299] C H00963 Congenital hereditary endothelial dystrophy (CHED) D (CHED2) SLC4A11 [HSA:83959] [KO:K13862] C H00996 Amish infantile epilepsy syndrome [PATH:hsa00604] D ST3GAL5 [HSA:8869] [KO:K03370] C H00999 Coenzyme Q10 deficiency [PATH:hsa00130 hsa00900] D ADCK3 [HSA:56997] [KO:K08869] D COQ2 [HSA:27235] [KO:K06125] D COQ9 [HSA:57017] D PDSS1 [HSA:23590] [KO:K12504] D PDSS2 [HSA:57107] [KO:K12505] D APTX [HSA:54840] [KO:K10863] C H01005 Dopamine beta-hydroxylase deficiency [PATH:hsa00350] D DBH [HSA:1621] [KO:K00503] C H00971 Achromatopsia D CNGA3 [HSA:1261] [KO:K04950] D CNGB3 [HSA:54714] [KO:K04953] D GNAT2 [HSA:2780] [KO:K04631] C H00973 Bradyopsia [PATH:hsa04744] D RGS9 [HSA:8787] [KO:K13765] D RGS9BP [HSA:388531] C H00974 Blue cone monochromacy D OPN1LW [HSA:5956] [KO:K04251] D OPN1MW [HSA:2652] [KO:K04251] C H00976 Colorblindness D (protan) OPN1LW [HSA:5956] [KO:K04251] D (deutan) OPN1MW [HSA:2652] [KO:K04251] D (tritan) OPN1SW [HSA:611] [KO:K04252] C H00989 Mohr-Tranebjaerg syndrome D TIMM8A [HSA:1678] C H00998 Alternating hemiplegia of childhood [PATH:hsa04960 hsa04961 hsa04964] D ATP1A2 [HSA:477] [KO:K01539] C H01000 Retinal vasculopathy with cerebral leukodystrophy (RVCL) [PATH:hsa04623] D TREX1 [HSA:11277] [KO:K10790] C H01007 Choroid plexus papilloma [PATH:hsa04010 hsa04110 hsa04115 hsa04210 hsa04310 hsa04722 hsa05200] D p53 [HSA:7157] [KO:K04451] C H01009 Newfoundland rod-cone dystrophy (NFRCD) D RLBP1 [HSA:6017] C H01010 Occult macular dystrophy (OMD) D RP1L1 [HSA:94137] C H01012 Oculo-auricular syndrome D HMX1 [HSA:3166] [KO:K09349] C H01029 Cornea plana congenita D (CNA2) KERA [HSA:11081] [KO:K08123] C H01031 Orthostatic intolerance (OI) D SLC6A2 [HSA:6530] [KO:K05035] C H01034 L1 syndrome [PATH:hsa04360 hsa04514] D L1CAM [HSA:3897] [KO:K06550] C H01036 Posterior column ataxia with retinitis pigmentosa (PCARP) D FLVCR1 [HSA:28982] [KO:K08220] C H01038 Cerebellar ataxia cayman type (ATCAY) D ATCAY [HSA:85300] C H01097 Cerebral palsy [PATH:hsa00250 hsa00410 hsa00430 hsa00650 hsa04727 hsa04142] D GAD1 [HSA:2571] [KO:K01580] D KANK1 [HSA:23189] D AP4E1 [HSA:9179] [KO:K12402] D AP4M1 [HSA:23431] [KO:K12400] D AP4B1 [HSA:10717] [KO:K12401] D AP4S1 [HSA:11154] [KO:K12403] C H01020 Autosomal dominant optic atrophy (DOA) D (OPA1) OPA1 [HSA:4976] D (OPA3) OPA3 [HSA:80207] D (OPA7) TMEM126A [HSA:84233] C H01075 Peters anomaly [PATH:hsa04350 hsa00140 hsa00380 hsa00980 hsa00514] D PAX6 [HSA:5080] [KO:K08031] D PITX2 [HSA:5308] [KO:K04686] D CYP1B1 [HSA:1545] [KO:K07410] D FOXC1 [HSA:2296] [KO:K09396] D B3GALTL [HSA:145173] [KO:K13675] C H01088 Pigmented paravenous chorioretinal atrophy (PPCA) D CRB1 [HSA:23418] [KO:K16681] C H01102 Pituitary adenomas [PATH:hsa05202 hsa04012 hsa04110 hsa04210 hsa04910] D (MEN1) MEN1 [HSA:4221] [KO:K14970] D (MEN4) CDKN1B [HSA:1027] [KO:K06624] D (CNC) PRKAR1A [HSA:5573] [KO:K04739] D (FIPA) AIP [HSA:9049] C H01116 Choroideremia (CHM) D CHM [HSA:1121] C H01118 Progressive external ophthalmoplegia (PEO) [PATH:hsa04020 hsa00230 hsa00240 hsa00480] D ANT1 [HSA:291] [KO:K05863] D TWINKLE [HSA:56652] D POLG [HSA:5428] [KO:K02332] D POLG2 [HSA:11232] [KO:K02333] D RRM2B [HSA:50484] [KO:K10808] C H01124 Pyridox(am)ine-5'-phosphate oxidase (PNPO) deficiency [PATH:hsa00750] D PNPO [HSA:55163] [KO:K00275] C H01128 Reticular dysgenesis [PATH:hsa00230] D AK2 [HSA:204] [KO:K00939] C H01130 Late-onset retinal degeneration (L-ORD) D C1QTNF5 [HSA:114902] C H01131 Hereditary neuralgic amyotrophy (HNA) D SEPT9 [HSA:10801] [KO:K16938] C H01149 Ring dermoid of cornea [PATH:hsa04350] D PITX2 [HSA:5308] [KO:K04686] C H01155 Roussy-Levy syndrome [PATH:hsa04514 hsa04146] D MPZ [HSA:4359] [KO:K06770] D PMP22 [HSA:5827] [KO:K13347] C H01159 Anterior segment dysgenesis (ASD) D PAX6 [HSA:5080] [KO:K08031] D PITX2 [HSA:5308] [KO:K04686] D PITX3 [HSA:5309] [KO:K09357] D FOXC1 [HSA:2296] [KO:K09396] D FOXE3 [HSA:2301] [KO:K09398] D CYP1B1 [HSA:1545] [KO:K07410] D B3GALTL [HSA:145173] [KO:K13675] C H01161 Aromatic L-amino acid decarboxylase (AADC) deficiency [PATH:hsa00350 hsa00380 hsa04726 hsa04728] D DDC [HSA:1644] [KO:K01593] C H01170 Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) D SACS [HSA:26278] C H01172 Infantile ascending hereditary spastic paralysis (IAHSP) D ALS2 [HSA:57679] [KO:K04575] C H01180 Sveinsson chorioretinal atrophy (SCRA) D TEAD1 [HSA:7003] [KO:K09448] C H00706 Bart-Pumphrey syndrome D GJB2 [HSA:2706] [KO:K07621] C H01201 Jensen syndrome D TIMM8A [HSA:1678] C H01203 Primary congenital glaucoma (PCG) [PATH:hsa00140 hsa00380 hsa00980] D (GLC3A) CYP1B1 [HSA:1545] [KO:K07410] D (GLC3D) LTBP2 [HSA:4053] [KO:K08023] C H01202 Cataract [PATH:hsa04144 hsa04141 hsa04360 hsa00860 hsa00601] D EPHA2 [HSA:1969] [KO:K05103] D FOXE3 [HSA:2301] [KO:K09398] D GJA8 [HSA:2703] [KO:K07617] D CRYGA [HSA:1418] D CRYGC [HSA:1420] D CRYGD [HSA:1421] D BFSP2 [HSA:8419] [KO:K10379] D CRYGS [HSA:1427] D SIL1 [HSA:64374] [KO:K14001] D GCNT2 [HSA:2651] [KO:K00742] D EYA1 [HSA:2138] [KO:K15616] D VIM [HSA:7431] [KO:K07606] D PITX3 [HSA:5309] [KO:K09357] D CRYAB [HSA:1410] [KO:K09542] D PAX6 [HSA:5080] [KO:K08031] D MIP [HSA:4284] [KO:K09863] D GJA3 [HSA:2700] [KO:K07612] D MAF [HSA:4094] [KO:K09035] D HSF4 [HSA:3299] [KO:K09417] D CRYBA1/3 [HSA:1411] D LIM2 [HSA:3982] D FTL [HSA:2512] [KO:K13625] D CHMP4B [HSA:128866] [KO:K12194] D CRYAA [HSA:1409] [KO:K09541] D CRYBA4 [HSA:1413] D CRYBB1 [HSA:1414] D CRYBB2 [HSA:1415] D CRYBB3 [HSA:1417] D NHS [HSA:4810] D BFSP1 [HSA:631] [KO:K10378] D SLC16A12 [HSA:387700] [KO:K11810] C H01204 Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ) D (CAMRQ1) VLDLR [HSA:7436] D (CAMRQ3) CA8 [HSA:767] [KO:K01672] C H01220 Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) D CTDP1 [HSA:9150] [KO:K15732] C H01221 Epithelial basement membrane corneal dystrophy (EBMD) D TGFBI [HSA:7045] C H01247 Pyridoxine-dependent epilepsy (PDE) [PATH:hsa00310] D ALDH7A1 [HSA:501] [KO:K14085] C H01255 Juvenile-onset dystonia [PATH:hsa04145 hsa04510 hsa04520 hsa04530 hsa04670 hsa04810] D ACTB [HSA:60] [KO:K05692] C H01256 Foveal hypoplasia D PAX6 [HSA:5080] [KO:K08031] C H01258 Generalized epilepsy and paroxysmal dyskinesia (GEPD) [PATH:hsa04270] D KCNMA1 [HSA:3778] [KO:K04936] C H01273 Autosomal dominant keratitis (ADK) D PAX6 [HSA:5080] [KO:K08031] C H01284 Marinesco-Sjogren syndrome [PATH:hsa04141] D SIL1 [HSA:64374] [KO:K14001] C H01287 Congenital mirror movements (CMM) [PATH:hsa04360 hsa03440] D DCC [HSA:1630] [KO:K06765] D RAD51A [HSA:5888] [KO:K04482] C H01293 Narcolepsy D HCRT [HSA:3060] [KO:K05246] D MOG [HSA:4340] C H01296 Hereditary neuropathy with liability to pressure palsies (HNPP) D PMP22 [HSA:5376] C H01301 Hemorrhagic destruction of the brain, subependymal calcification, and cataracts [PATH:hsa04530] D JAM3 [HSA:83700] [KO:K06785] # ACardiovascular diseases B Cardiac diseases C H00292 Hypertrophic cardiomyopathy (HCM) [PATH:hsa05410] D MYH7 (mutation) [HSA:4625] [KO:K10352] D TNNT2 (mutation) [HSA:7139] [KO:K12045] D MYBPC3 (mutation) [HSA:4607] [KO:K12568] D TPM1 (mutation) [HSA:7168] [KO:K10373] D TNNI3 (mutation) [HSA:7137] [KO:K12044] D MYL2 (mutation) [HSA:4633] [KO:K10351] D MYL3 (mutation) [HSA:4634] [KO:K12749] D ACTC1 (mutation) [HSA:70] [KO:K12314] D TTN (mutation) [HSA:7273] [KO:K12567] D MYH6 (mutation) [HSA:4624] [KO:K10352] D PRKAG2 (mutation) [HSA:51422] [KO:K07200] D CSRP3 (mutation) [HSA:8048] [KO:K09377] D TNNC1 (mutation) [HSA:7134] [KO:K05865] D VCL (mutation) [HSA:7414] [KO:K05700] C H00293 Arrhythmogenic right ventricular cardiomyopathy (ARVC) [PATH:hsa05412] D JUP (mutation) [HSA:3728] [KO:K10056] D RYR2 (mutation) [HSA:6262] [KO:K04962] D DSP (mutation) [HSA:1832] [KO:K10381] D PKP2 (mutation) [HSA:5318] [KO:K12642] D TGF-beta 3 (mutation) [HSA:7043] [KO:K13377] D DSG2 (mutation) [HSA:1829] [KO:K07597] D DSC2 (mutation) [HSA:1824] [KO:K07601] D TMEM43 (mutation) [HSA:79188] C H00294 Dilated cardiomyopathy (DCM) [PATH:hsa05414] D TNNT2 (mutation) [HSA:7139] [KO:K12045] D TTN (mutation) [HSA:7273] [KO:K12567] D DES (mutation) [HSA:1674] [KO:K07610] D SGCD (mutation) [HSA:6444] [KO:K12563] D MYBPC3 (mutation) [HSA:4607] [KO:K12568] D MYH7 (mutation) [HSA:4625] [KO:K10352] D ACTC1 (mutation) [HSA:70] [KO:K12314] D TPM1 (mutation) [HSA:7168] [KO:K10373] D LMNA (mutation) [HSA:4000] [KO:K12641] D DMD (mutation) [HSA:1756] [KO:K10366] D Tafazzin (mutation) [HSA:6901] [KO:K13511] D LDB3 (mutation) [HSA:11155] D ACTN2 (mutation) [HSA:88] [KO:K05699] D NEXN (mutation) [HSA:91624] D RBM20 (mutation) [HSA:282996] D SCN5A (mutation) [HSA:6331] [KO:K04838] D MYH6 (mutation) [HSA:4624] [KO:K10352] D TNNI3 (mutation) [HSA:7137] [KO:K12044] D SDHA (mutation) [HSA:6389] [KO:K00234] D EYA4 (mutation) [HSA:2070] D CSRP3 (mutation) [HSA:8048] [KO:K09377] D TCAP (mutation) [HSA:8557] D ABCC9 (mutation) [HSA:10060] [KO:K05033] D PLN (mutation) [HSA:5350] [KO:K05852] D TMPO (mutation) [HSA:7112] D PSEN1 (mutation) [HSA:5663] [KO:K04505] D PSEN2 (mutation) [HSA:5664] [KO:K04522] D VCL (mutation) [HSA:7414] [KO:K05700] D FKTN (mutation) [HSA:2218] D TNNC1 (mutation) [HSA:7134] [KO:K05865] D TNNI3 (mutation) [HSA:7137] [KO:K12044] D TAZ (mutation) [HSA:6901] [KO:K13511] D HLA-DRB1 (polymorphism) [HSA:3123] [KO:K06752] D HLA-DPA1 (polymorphism) [HSA:3113] [KO:K06752] D HLA-DPB1 (polymorphism) [HSA:3115] [KO:K06752] D HLA-DQA1 (polymorphism) [HSA:3117] [KO:K06752] D HLA-DQB1 (polymorphism) [HSA:3119] [KO:K06752] C H01219 Restrictive cardiomyopathy (RCM) [PATH:hsa04260] D DES (mutation) [HSA:1674] [KO:K07610] D ACTC (mutation) [HSA:70] [KO:K12314] D TNNI3 (mutation) [HSA:7137] [KO:K12044] D TNNT2 (mutation) [HSA:7139] [KO:K12045] C H00295 Viral myocarditis [PATH:hsa05416] D HLA-DQB1 (polymorphism) [HSA:3119] [KO:K06752] C H01216 Left ventricular noncompaction (LVNC) [PATH:hsa04260] D ZASP (mutation) [HSA:11155] D DTNA (mutation) [HSA:1837] D TAZ (mutation) [HSA:6901] [KO:K13511] D LMNA (mutation) [HSA:4000] [KO:K12641] D MYH7 (mutation) [HSA:4625] [KO:K10352] D ACTC (mutation) [HSA:70] [KO:K12314] D TNNT2 (mutation) [HSA:7139] [KO:K12045] C H00546 Atrial septal defect D NKX2.5 [HSA:1482] [KO:K09345] D GATA4 [HSA:2626] [KO:K09183] D TBX20 [HSA:57057] [KO:K10185] D ACTC1 [HSA:70] [KO:K12314] D MYH6 [HSA:4624] [KO:K10352] C H00547 Atrioventricular septal defect D CRELD1 [HSA:78987] C H00549 Tetralogy of Fallot [PATH:hsa04330] D NKX2.5 [HSA:1482] [KO:K09345] D JAG1 [HSA:182] [KO:K06052] D ZFPM2 [HSA:23414] D GDF1 [HSA:2657] [KO:K05495] C H00550 Transposition of great arteries D PROSIT240 [HSA:23389] [KO:K15164] C H00551 Alagille syndrome [PATH:hsa04330] D JAG1 [HSA:182] [KO:K06052] D NOTCH2 [HSA:4853] [KO:K02599] C H00553 Congenital supravalvar aortic stenosis D ELN [HSA:2006] [KO:K14211] C H00554 Bicuspid aortic valve [PATH:hsa04330] D NOTCH1 [HSA:4851] [KO:K02599] C H00555 Char syndrome D TFAP2B [HSA:7021] [KO:K09176] C H00654 Barth syndrome (BTHS) [PATH:hsa00564] D TAZ [HSA:6901] [KO:K13511] C H00669 Naxos disease and Carvajal syndrome [PATH:hsa05412] D (Naxos) JUP [HSA:3728] [KO:K10056] D (Carvajal) DSP [HSA:1832] [KO:K10381] C H00720 Long QT syndrome D (LQT1) KCNQ1 [HSA:3784] [KO:K04926] D (LQT2) KCNH2 [HSA:3757] [KO:K04905] D (LQT3) SCN5A [HSA:6331] [KO:K04838] D (LQT4) ANK2 [HSA:287] [KO:K10380] D (LQT5/JLNS2) KCNE1 [HSA:3753] [KO:K04894] D (LQT6) KCNE2 [HSA:9992] [KO:K04896] D (LQT7) KCNJ2 [HSA:3759] [KO:K04996] D (LQT8) CACNA1C [HSA:775] [KO:K04850] D (LQT9) CAV3 [HSA:859] [KO:K12959] D (LQT10) SCN4B [HSA:6330] [KO:K04848] D (LQT11) AKAP9 [HSA:10142] [KO:K16551] D (LQT12) SNTA1 [HSA:6640] D (LQT13) KCNJ5 [HSA:3762] [KO:K04999] D (JLNS1) KCNQ1 [HSA:3784] [KO:K04926] C H00725 Short QT syndrome D (SQTS1) KCNH2 [HSA:3757] [KO:K04905] D (SQTS2) KCNQ1 [HSA:3784] [KO:K04926] D (SQTS3) KCNJ2 [HSA:3759] [KO:K04996] C H00728 Brugada syndrome (BRS) [PATH:hsa04010 hsa04020 hsa04260 hsa04270 hsa05410 hsa05412 hsa05414] D (BRS1) SCN5A [HSA:6331] [KO:K04838] D (BRS2) GPD1L [HSA:23171] [KO:K00006] D (BRS3) CACNA1C [HSA:775] [KO:K04850] D (BRS4) CACNB2 [HSA:783] [KO:K04863] D (BRS5) SCN1B [HSA:6324] [KO:K04845] D (BRS6) KCNE3 [HSA:10008] [KO:K04897] D (BRS7) SCN3B [HSA:55800] [KO:K04847] D (BRS8) HCN4 [HSA:10021] [KO:K04957] C H00729 Sick sinus syndrome (SSS) D (SSS1) SCN5A [HSA:6331] [KO:K04838] D (SSS2) HCN4 [HSA:10021] [KO:K04957] C H00730 Familial idiopathic ventricular fibrillation D (IVF1) SCN5A [HSA:6331] [KO:K04838] D (IVF2) DPP6 [HSA:1804] C H00731 Atrial fibrillation [PATH:hsa04270] D (ATFB3) KCNQ1 [HSA:3784] [KO:K04926] D (ATFB4) KCNE2 [HSA:9992] [KO:K04896] D (ATFB6) NPPA [HSA:4878] [KO:K12334] D (ATFB7) KCNA5 [HSA:3741] [KO:K04878] D (ATFB9) KCNJ2 [HSA:3759] [KO:K04996] D (ATFB10) SCN5A [HSA:6331] [KO:K04838] D (ATFB11) GJA5 [HSA:2702] [KO:K07614] D (ATFB12) ABCC9 [HSA:10060] [KO:K05033] C H00918 Conotruncal heart malformations D CFC1 [HSA:55997] D GDF1 [HSA:2657] [KO:K05495] D NKX2-6 [HSA:137814] [KO:K09346] D TBX1 [HSA:6899] [KO:K10175] C H00939 Neutropenia, severe congenital 4, autosomal recessive D G6PC3 [HSA:92579] C H01019 Catecholaminergic polymorphic ventricular tachycardia [PATH:hsa04020 hsa04260] D (CPVT1) RYR2 [HSA:6262] [KO:K04962] D (CPVT2) CASQ2 [HSA:845] D GNAI2 [HSA:2771] [KO:K04630] C H01154 Wolff-Parkinson-White (WPW) syndrome [PATH:hsa04910 hsa04920 hsa05410] D PRKAG2 [HSA:51422] [KO:K07200] C H01263 Progressive cardiac conduction defect (PCCD) D (type IA) SCN5A [HSA:6331] [KO:K04838] D (type IB) TRPM4 [HSA:54795] [KO:K04979] B Vascular diseases C H00531 Venous malformations D (sporadic, cutaneomucosal) TIE2 [HSA:7010] [KO:K05121] D (glomuvenous) GLMN [HSA:11146] C H00532 RASA1-related disorders [PATH:hsa04010] D RASA1 [HSA:5921] [KO:K04352] C H00533 Hereditary hemorrhagic telangiectasia (HHT) [PATH:hsa04350] D ENG [HSA:2022] [KO:K06526] D ACVRL1 [HSA:94] [KO:K13594] D SMAD4 [HSA:4089] [KO:K04501] C H00534 Cerebral cavernous malformation D CCM1 [HSA:889] D MGC4607 [HSA:83605] D PDCD10 [HSA:11235] C H00535 Lymphedemas D (hereditary I) FLT4 [HSA:2324] [KO:K05097] D (LD) FOXC2 [HSA:2303] [KO:K09396] D (HLTS) SOX18 [HSA:54345] [KO:K09270] D (HLLS) CCBE1 [HSA:147372] C H00536 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) [PATH:hsa04330] D NOTCH3 [HSA:4854] [KO:K02599] C H00771 Inherited erythromelalgia (IEM) D SCN9A [HSA:6335] [KO:K04841] C H00800 Loeys-Dietz syndrome (LDS) [PATH:hsa04010 hsa04060 hsa04144 hsa04350 hsa04380 hsa04520] D (LDS 1A/2A) TGFBR1 [HSA:7046] [KO:K04674] D (LDS 1B/2B) TGFBR2 [HSA:7048] [KO:K04388] C H00801 Familial thoracic aortic aneurysm and dissection (TAAD) [PATH:hsa04270 hsa04010 hsa04020 hsa04060 hsa04350 hsa04510 hsa04520 hsa04530 hsa04810] D (AAT3) TGFBR2 [HSA:7048] [KO:K04388] D (AAT4) MYH11 [HSA:4629] [KO:K10352] D (AAT5) TGFBR1 [HSA:7046] [KO:K04674] D (AAT6) ACTA2 [HSA:59] [KO:K12313] D (AAT7) MYLK [HSA:4638] [KO:K00907] C H00877 Brain small vessel disease with Axenfeld-Rieger anomaly [PATH:hsa04510 hsa04512] D COL4A1 [HSA:1282] [KO:K06237] C H00896 Lymphangioleiomyomatosis (LAM) [PATH:hsa04115 hsa04150 hsa04910] D TSC1 [HSA:7248] [KO:K07206] D TSC2 [HSA:7249] [KO:K07207] C H00919 Arterial tortuosity syndrome D SLC2A10 [HSA:81031] [KO:K08147] C H00939 Neutropenia, severe congenital 4, autosomal recessive D G6PC3 [HSA:92579] C H01002 Generalized arterial calcification of infancy [PATH:hsa00230 hsa00500 hsa00740 hsa00760 hsa00770 hsa01100] D ENPP1 [HSA:5167] [KO:K01513] C H01006 Hereditary angioedema [PATH:hsa04610] D (type I and II) C1NH [HSA:710] [KO:K04001] D (type III) F12; coagulation factor XII [HSA:2161] [KO:K01328] C H01120 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) D FLVCR2 [HSA:55640] [KO:K08220] B Hematologic diseases C H00228 Thalassemia D (Alpha) HBA1 [HSA:3039] [KO:K13822] D (Alpha) HBA2 [HSA:3040] [KO:K13822] D (Beta) HBB [HSA:3043] [KO:K13823] D (Beta) HBG1 [HSA:3047] [KO:K13824] D (Beta) HBG2 [HSA:3048] [KO:K13824] D (ATRX) ATRX [HSA:546] [KO:K10779] C H00229 Sickle cell anemia D HBB [HSA:3043] [KO:K13823] C H00230 Hereditary spherocytosis D (SPH1) ANK1 [HSA:286] [KO:K10380] D (SPH2) SPTB [HSA:6710] [KO:K06115] D (SPH3) SPTA1 [HSA:6708] [KO:K06114] D (SPH4) SLC4A1 [HSA:6521] [KO:K06573] D (SPH5) EPB42 [HSA:2038] C H00231 Hereditary elliptocytosis D (HE1) EPB41 [HSA:2035] [KO:K06107] D (HE2) SPTA1 [HSA:6708] [KO:K06114] D (HE3) SPTB [HSA:6710] [KO:K06115] D (HE4) SLC4A1 [HSA:6521] [KO:K06573] C H00232 Hereditary stomatocytosis D RHAG [HSA:6005] [KO:K06580] D SLC4A1 [HSA:6521] [KO:K06573] D STOM [HSA:2040] C H00219 Hemophilia [PATH:hsa04610 hsa04512 hsa04640] D (HEMA) F8; coagulation factor VIII [HSA:2157] [KO:K03899] D (HEMB) F9; coagulation factor IX (Christmas factor) [HSA:2158] [KO:K01321] D (VWD) VWF; von Willebrand factor [HSA:7450] [KO:K03900] D (Platelet-type) GP1BA [HSA:2811] [KO:K06261] C H01254 Prothrombin deficiency [PATH:hsa04610] D F2 [HSA:2147] [KO:K01313] C H00220 Factor V Deficiency [PATH:hsa04610] D F5; coagulation factor V (labile factor) [HSA:2153] [KO:K03902] C H00221 Combined deficiency of factors V and VIII [PATH:hsa04141] D LMAN1; mannose-binding lectin 1 [HSA:3998] [KO:K10080] D MCFD2 [HSA:90411] C H00222 Afibrinogenemia [PATH:hsa04610] D FGA; fibrinogen alpha chain [HSA:2243] [KO:K03903] D FGB; fibrinogen beta chain [HSA:2244] [KO:K03904] D FGG; fibrinogen gamma chain [HSA:2266] [KO:K03905] C H00223 Inherited thrombophilia [PATH:hsa04610] D SERPINC1; antithrombin III [HSA:462] [KO:K03911] D PROC; protein C [HSA:5624] [KO:K01344] D PROS1; protein S [HSA:5627] [KO:K03908] D F2; coagulation factor II (thrombin) [HSA:2147] [KO:K01313] D F5; coagulation factor V (labile factor) [HSA:2153] [KO:K03902] D HRG; histidine-rich glycoprotein [HSA:3273] D PLG; plasminogen [HSA:5340] [KO:K01315] D SERPINE1; plasminogen activator inhibitor 1 [HSA:5054] [KO:K03982] D FGA; fibrinogen alpha chain [HSA:2243] [KO:K03903] D FGB; fibrinogen beta chain [HSA:2244] [KO:K03904] D FGG: fibrinogen gamma chain [HSA:2266] [KO:K03905] D SERPIND1; heparin cofactor II [HSA:3053] [KO:K03912] D THBD; thrombomodulin [HSA:7056] [KO:K03907] D F9; coagulation factor IX [HSA:2158] [KO:K01321] C H00224 Bernard-Soulier syndrome [PATH:hsa04512 hsa04640] D GP1BA [HSA:2811] [KO:K06261] D GP1BB [HSA:2812] [KO:K06262] D GP9 [HSA:2815] [KO:K06263] C H00226 Glanzmann thrombasthenia [PATH:hsa04512 hsa04510] D ITGA2B [HSA:3674] [KO:K06476] D ITGB3 [HSA:3690] [KO:K06493] C H00225 Thrombotic thrombocytopenic purpura D ADAMTS13 [HSA:11093] [KO:K08627] C H00227 Congenital amegakaryocytic thrombocytopenia [PATH:hsa04060] D MPL [HSA:4352] [KO:K05082] C H00233 Macrothrombocytopenia D MYH9 [HSA:4627] [KO:K10352] C H00234 Pelger-Huet anomaly D LBR [HSA:3930] C H00235 Methemoglobinemia [PATH:hsa00520] D CYB5R3 [HSA:1727] [KO:K00326] D CYB5A [HSA:1528] C H00236 Congenital polycythemia D (ECYT1) EPOR [HSA:2057] [KO:K05079] D (ECYT2) VHL [HSA:7428] [KO:K03871] D (ECYT3) EGLN1 [HSA:54583] [KO:K09592] D (ECYT4) EPAS1 [HSA:2034] [KO:K09095] C H00237 Diamond-Blackfan anemia [PATH:hsa03010] D (DBA) RPS19 [HSA:6223] [KO:K02966] D (DBA3) RPS24 [HSA:6229] [KO:K02974] D (DBA4) RPS17 [HSA:6218] [KO:K02962] D (DBA5) RPL35A [HSA:6165] [KO:K02917] D (DBA6) RPL5 [HSA:6125] [KO:K02932] D (DBA7) RPL11 [HSA:6135] [KO:K02868] D (DBA8) RPS7 [HSA:6201] [KO:K02993] D (DBA9) RPS10 [HSA:6204] [KO:K02947] D (DBA10) RPS26 [HSA:6231] [KO:K02976] C H00238 Fanconi anemia [PATH:hsa03460] D FANCA [HSA:2175] [KO:K10888] D FANCB [HSA:2187] [KO:K10889] D FANCC [HSA:2176] [KO:K10890] D BRCA2 [HSA:675] [KO:K08775] D FANCD2 [HSA:2177] [KO:K10891] D FANCE [HSA:2178] [KO:K10892] D FANCF [HSA:2188] [KO:K10893] D FANCG [HSA:2189] [KO:K10894] D FANCI [HSA:55215] [KO:K10895] D BRIP1 [HSA:83990] [KO:K15362] D FANCL [HSA:55120] [KO:K10606] D FANCM [HSA:57697] [KO:K10896] D FANCN [HSA:79728] [KO:K10897] D RAD51C [HSA:5889] [KO:K10870] C H00664 Anemia due to disorders of glycolytic enzymes [PATH:hsa00010] D HK1 [HSA:3098] [KO:K00844] D PGK1 [HSA:5230] [KO:K00927] D TPI1 [HSA:7167] [KO:K01803] D GPI [HSA:2821] [KO:K01810] D BPGM [HSA:669] [KO:K01837] C H00668 Anemia due to disorders of glutathione metabolism [PATH:hsa00480 hsa00030] D G6PD [HSA:2539] [KO:K00036] D GPX1 [HSA:2876] [KO:K00432] D GCLC [HSA:2729] [KO:K11204] D GSS [HSA:2937] [KO:K01920] C H00674 Anemia due to disorders of nucleotide metabolism [PATH:hsa00230 hsa00240] D AK1 [HSA:203] [KO:K00939] D UMPH1 [HSA:51251] [KO:K01081] C H00867 Radioulnar synostosis with amegakaryocytic thrombocytopenia D HOXA11 [HSA:3207] [KO:K09296] C H00917 Congenital dyserythropoietic anemias (CDAs) [PATH:hsa04141] D CDAN1 [HSA:146059] D SEC23B [HSA:10483] [KO:K14006] D GATA1 [HSA:2623] [KO:K09182] D KLF1 [HSA:10661] [KO:K09204] C H00938 Factor XI deficiency [PATH:hsa04610] D F11 [HSA:2160] [KO:K01323] C H00941 Factor XII deficiency [PATH:hsa04610] D F12 [HSA:2161] [KO:K01328] C H00945 Factor XIII deficiency [PATH:hsa04610] D F13A1 [HSA:2162] [KO:K03917] D F13B [HSA:2165] [KO:K03906] C H00921 Revesz syndrome D TINF2 [HSA:26277] [KO:K11112] C H00978 Thrombocytopenia (THC) D (THC1) WASP [HSA:7454] [KO:K05747] D (THC2) ANKRD26 [HSA:22852] D (THC2) MASTL [HSA:84930] [KO:K16309] D (THC4) CYCS [HSA:54205] [KO:K08738] D (X-linked) GATA1 [HSA:2623] [KO:K09182] D (FPDMM) RUNX1 [HSA:861] [KO:K08367] C H00982 Sideroblastic anemia D (PRARSA) SLC25A38 [HSA:54977] [KO:K15118] D (PRARSA) GLRX5 [HSA:51218] [KO:K07390] D (XLSA) ALAS2 [HSA:51218] [KO:K07390] D (ASAT) ABCB7 [HSA:22] [KO:K05662] C H00983 Alpha-2-plasmin inhibitor (a2-PI) deficiency [PATH:hsa04610] D SERPINF2 [HSA:5345] [KO:K03983] C H00920 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis [PATH:hsa00190 hsa01100] D COX4I2 [HSA:84701] [KO:K02263] C H00995 Combined deficiency of vitamin K-dependent clotting factors (VKCFD) D (VKCFD1) GGCX [HSA:2677] [KO:K10106] D (VKCFD2) VKORC1 [HSA:79001] [KO:K05357] C H01013 Adult i phenotype [PATH:hsa00601] D GCNT2 [HSA:2651] [KO:K00742] C H01053 Paroxysmal nocturnal hemoglobinuria (PNH) [PATH:hsa00563] D PIGA [HSA:5277] [KO:K03857] C H01078 Fletcher factor deficiency [PATH:hsa04610] D KLKB1 [HSA:3818] [KO:K01324] C H01096 Pyruvate kinase (PK) deficiency [PATH:hsa00010 hsa00230 hsa00620] D PKLR [HSA:5313] [KO:K12406] C H01106 Plasminogen activator inhibitor type 1 (PAI-1) deficiency [PATH:hsa04115 hsa04610] D PAI1 [HSA:5054] [KO:K03982] C H01125 Hereditary pyropoikilocytosis (HPP) D SPTA1 [HSA:6708] [KO:K06114] C H01132 Aplastic anemia (AA) [PATH:hsa04380 hsa04612] D TERC [HSA:7012] D TERT [HSA:7015] [KO:K11126] D IFNG [HSA:3458] [KO:K04687] C H01145 Atransferrinemia [PATH:hsa04978] D TF [HSA:7018] [KO:K14736] C H01162 Scott syndrome D ANO6 [HSA:196527] C H01183 Thiamine-responsive megaloblastic anemia (TRMA) D SLC19A2 [HSA:10560] [KO:K14610] C H01196 Hypochromic microcytic anemia [PATH:hsa04142 hsa04978] D NRAMP2 [HSA:4891] [KO:K12347] C H01206 Plasminogen deficiency [PATH:hsa04080 hsa04610] D PLG [HSA:5340] [KO:K01315] C H01214 Rh-null hemolytic anemia (RHN) D RHAG [HSA:6005] [KO:K06580] C H01235 Bleeding disorder platelet-type D P2RY12 [HSA:64805] [KO:K04298] D GP6 [HSA:51206] [KO:K06264] D TBXA2R [HSA:6915] [KO:K04264] C H01252 Hereditary folate malabsorption (HFM) [PATH:hsa04977 hsa04978] D SLC46A1 [HSA:113235] [KO:K14613] C H01277 Vitamin B12 deficiency anaemia [PATH:hsa04977] D (IFD) GIF [HSA:2694] [KO:K14615] D (IGS) CUBN [HSA:8029] [KO:K14616] D (IGS) AMN [HSA:81693] C H01278 Iron-refractory iron deficiency anemia (IRIDA) D TMPRSS6 [HSA:164656] [KO:K09637] C H01303 Hypercatabolic hypoproteinemia [PATH:hsa04612] D B2M [HSA:567] [KO:K08055] B Hypertensive diseases C H00602 Glucocorticoid-remediable aldosteronism (GRA) [PATH:hsa00140] D CYP11B1 [HSA:1584] [KO:K00497] D CYP11B2 [HSA:1585] [KO:K07433] C H00259 Apparent mineralocorticoid excess syndrome [PATH:hsa00140] D HSD11B2 [HSA:3291] [KO:K00071] C H00242 Liddle syndrome [PATH:hsa04960] D SCNN1B [HSA:6338] [KO:K04825] D SCNN1G [HSA:6340] [KO:K04827] C H00258 Aldosterone synthase Deficiency [PATH:hsa00140] D CYP11B2 [HSA:1585] [KO:K07433] C H00603 Hypertension exacerbated in pregnancy [PATH:hsa04960] D NR3C2 [HSA:4306] [KO:K08555] C H01300 Primary pulmonary hypertension (PPH) [PATH:hsa04350] D BMPR2 [HSA:659] [KO:K04671] D SMAD1 [HSA:4086] [KO:K04676] D SMAD4 [HSA:4089] [KO:K04501] D SMAD9 [HSA:4093] [KO:K16791] # AEndocrine and metabolic diseases B Diabetes C H00408 Type I diabetes mellitus [PATH:hsa04940 hsa04660 hsa04060 hsa04630 hsa04722] D HLA-DRB1 (polymorphism) [HSA:3123] [KO:K06752] D HLA-DQB1 (polymorphism) [HSA:3119] [KO:K06752] D HLA-DQA1 (polymorphism) [HSA:3117] [KO:K06752] D INS (polymorphism) [HSA:3630] [KO:K04526] D CTLA-4 (polymorphism) [HSA:1493] [KO:K06538] D PTPN22 (polymorphism) [HSA:26191] [KO:K01104] D IL-2RA (polymorphism) [HSA:3559] [KO:K05068] D PTPN2 (polymorphism) [HSA:5771] [KO:K01104] D ERBB3 (polymorphism) [HSA:2065] [KO:K05084] D IL2 - IL21 (intergenic region polymorphism) [HSA:3558 59067] [KO:K05429 K05434] D IFIH1 (polymorphism) [HSA:64135] [KO:K12647] D CLEC16A (polymorphism) [HSA:23274] D BACH2 (polymorphism) [HSA:60468] [KO:K09042] D PRKCQ (polymorphism) [HSA:5588] [KO:K06068] D CTSH (polymorphism) [HSA:1512] [KO:K01366] D C1QTNF6 (polymorphism) [HSA:114904] D SH2B3 (polymorphism) [HSA:10019] [KO:K12459] D C12orf30 (polymorphism) [HSA:80018] D CD226 (polymorphism) [HSA:10666] [KO:K06567] D ITPR3 (polymorphism) [HSA:3710] [KO:K04960] D CYP27B1 (polymorphism) [HSA:1594] [KO:K07438] C H00409 Type II diabetes mellitus [PATH:hsa04110 hsa04930] D CDKN2A (polymorphism) [HSA:1029] [KO:K06621] D CDKN2B (polymorphism) [HSA:1030] [KO:K04685] D IGF2BP2 (polymorphism) [HSA:10644] D CAPN10 (polymorphism) [HSA:11132] [KO:K08579] D SLC30A8 (polymorphism) [HSA:169026] [KO:K14695] D JAZF1 (polymorphism) [HSA:221895] D HHEX (polymorphism) [HSA:3087] [KO:K08024] D KCNJ11 (polymorphism) [HSA:3767] [KO:K05004] D KCNQ1 (polymorphism) [HSA:3784] [KO:K04926] D MTNR1B (polymorphism) [HSA:4544] [KO:K04286] D NOTCH2 (polymorphism) [HSA:4853] [KO:K02599] D ENPP1 (polymorphism) [HSA:5167] [KO:K01513] D PPARG (polymorphism) [HSA:5468] [KO:K08530] D CDKAL1 (polymorphism) [HSA:54901] [KO:K15865] D ADAMTS9 (polymorphism) [HSA:56999] [KO:K08624] D HNF1B (polymorphism) [HSA:6928] [KO:K08034] D TCF7L2 (polymorphism) [HSA:6934] [KO:K04491] D WFS1 (polymorphism) [HSA:7466] [KO:K14020] D FTO (polymorphism) [HSA:79068] C H00410 Maturity onset diabetes of the young (MODY) [PATH:hsa04950 hsa04930 hsa04910] D (MODY1) HNF4A [HSA:3172] [KO:K07292] D (MODY2) GCK [HSA:2645] [KO:K12407] D (MODY3) TCF1 [HSA:6927] [KO:K08036] D (MODY4) PDX1 [HSA:3651] [KO:K07594] D (MODY5) TCF2 [HSA:6928] [KO:K08034] D (MODY6) NEUROD1 [HSA:4760] [KO:K08033] D (MODY7) KLF11 [HSA:8462] [KO:K09209] D (MODY8) CEL [HSA:1056] [KO:K12298] D (MODY9) PAX4 [HSA:5078] [KO:K08032] D (MODY10) INS [HSA:3630] [KO:K04526] D (MODY11) BLK [HSA:640] [KO:K08890] C H00512 Permanent neonatal diabetes mellitus (PNDM) [PATH:hsa04930 hsa04950 hsa04910] D KCNJ11 [HSA:3767] [KO:K05004] D ABCC8 [HSA:6833] [KO:K05032] D GCK [HSA:2645] [KO:K12407] D INS [HSA:3630] [KO:K04526] D IPF1 [HSA:3651] [KO:K07594] D PTF1A [HSA:256297] [KO:K09073] D FOXP3 [HSA:50943] [KO:K10163] D EIF2AK3 [HSA:9451] [KO:K08860] D GLIS3 [HSA:169792] [KO:K09232] C H00513 Transient neonatal diabetes mellitus (TNDM) [PATH:hsa04930] D ZFP57 [HSA:346171] [KO:K09228] D PLAGL1 [HSA:5325] D HYMAI [HSA:57061] D ABCC8 [HSA:6833] [KO:K05032] D KCNJ11 [HSA:3767] [KO:K05004] C H00942 Rabson-Mendenhall syndrome [PATH:hsa04520 hsa04910 hsa04930 hsa04960] D INSR [HSA:3643] [KO:K04527] C H01224 Ketosis-prone diabetes mellitus (KPD) D PAX4 [HSA:5078] [KO:K08032] C H01228 Insulin-resistant diabetes mellitus with acanthosis nigricans (IRAN) [PATH:hsa04520 hsa04910 hsa04930 hsa04960] D INSR [HSA:3643] [KO:K04527] B Hypothalamus and pituitary gland diseases C H00253 Neurohypophyseal diabetes insipidus (NPDI) D AVP [HSA:551] [KO:K05242] C H00254 Pituitary Dwarfism (PD) D (IGHD1A PD1) GH1 [HSA:2688] [KO:K05438] D (IGHD1B) GHRH [HSA:2691] [KO:K05260] D (IGHD1B) GHRHR [HSA:2692] [KO:K04584] D (IGHD3) BTK [HSA:695] [KO:K07370] D (PD2) GHR [HSA:2690] [KO:K05080] D (PD3) POU1F1 [HSA:5449] [KO:K09363] D (PD3 CPHD2) PROP1 [HSA:5626] [KO:K09327] D (PD3) HESX1 [HSA:8820] [KO:K09354] D (PD3 CPHD3) LHX3 [HSA:8022] [KO:K09374] D (PD4) SOX3 [HSA:6658] [KO:K09267] D (SSPD CPHD4) LHX4 [HSA:89884] [KO:K09374] D (IGFD) IGF1 [HSA:3479] [KO:K05459] D (CPHD1) POU1F1 [HSA:5449] [KO:K09363] C H00255 Hypogonadotropic hypogonadism [PATH:hsa04912 hsa04080 hsa04810] D GNRHR [HSA:2798] [KO:K04280] D KISS1R [HSA:84634] [KO:K08374] D NELF [HSA:26012] D TAC3 [HSA:6866] [KO:K05240] D TACR3 [HSA:6870] [KO:K04224] D GNRH1 [HSA:2796] [KO:K05252] D (KAL1) KAL1 [HSA:3730] D (KAL2) FGFR1 [HSA:2260] [KO:K04362] D (KAL3) PROKR2 [HSA:128674] [KO:K08380] D (KAL4) PROK2 [HSA:60675] D (KAL5) CHD7 [HSA:55636] [KO:K14437] D (KAL6) FGF8 [HSA:2253] [KO:K04358] C H00937 Precocious puberty [PATH:hsa04020 hsa04080 hsa04912] D (CEPREPU) KISS1R [HSA:84634] [KO:K08374] D (FMPP) LHCGR [HSA:3973] [KO:K04248] C H01011 Adrenocorticotropic hormone deficiency D TBX19 [HSA:9095] [KO:K10184] C H01253 Isolated follicle-stimulating hormone deficiency (IFSHD) [PATH:hsa04080 hsa04912] D FSHB [HSA:2488] [KO:K05250] C H01274 Growth delay due to insulin-like growth factor I resistance [PATH:hsa04114 hsa04510 hsa04520 hsa04730 hsa04914] D IGF1R [HSA:3480] [KO:K05087] C H01294 Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) [PATH:hsa04080 hsa04962] D AVPR2 [HSA:554] [KO:K04228] B Thyroid gland diseases C H00250 Congenital nongoitrous hypothyroidism (CHNG) D (CHNG1) TSHR [HSA:7253] [KO:K04249] D (CHNG2) PAX8 [HSA:7849] [KO:K09293] D (CHNG4) TSHB [HSA:7252] [KO:K05251] D (CHNG5) NKX2-5 [HSA:1482] [KO:K09345] C H00251 Thyroid dyshormonogenesis [PATH:hsa00350] D (Type 1) SLC5A5 [HSA:6528] [KO:K14385] D (Type 2A) TPO [HSA:7173] [KO:K00431] D (Type 2B) SLC26A4 [HSA:5172] [KO:K14702] D (Type 2B) FOXI1 [HSA:2299] [KO:K09401] D (Type 4) IYD [HSA:389434] D (Type 5) DUOXA2 [HSA:405753] D TG [HSA:7038] [KO:K10809] D (Type 6) DUOX2 [HSA:50506] [KO:K13411] C H00249 Thyroid hormone resistance syndrome [PATH:hsa04080] D THRB [HSA:7068] [KO:K08362] C H00650 Allan-Herndon-Dudley syndrome D SLC16A2 [HSA:6567] [KO:K08231] C H00913 Choreoathetosis, hypothyroidism, and neonatal respiratory distress D NKX2-1 [HSA:7080] [KO:K09342] C H01040 Bamforth-Lazarus syndrome D FOXE1 [HSA:2304] [KO:K09398] C H01186 Abnormal thyroid hormone metabolism D SECISBP2 [HSA:79048] C H01269 Congenital hyperthyroidism D TSHR [HSA:7253] [KO:K04249] B Parathyroid diseases C H00244 Pseudohypoparathyroidism [PATH:hsa04130] D (Type Ia) GNAS (maternal inheritance) [HSA:2778] [KO:K04632] D (Type Ib) GNAS (loss of imprinting) [HSA:2778] [KO:K04632] D (Type Ib) STX16 (deletion) [HSA:8675] [KO:K08489] C H00246 Primary hyperparathyroidism D CDC73 [HSA:79577] [KO:K15175] D MEN1 [HSA:4221] [KO:K14970] B Adrenal gland diseases C H00602 Glucocorticoid-remediable aldosteronism (GRA) [PATH:hsa00140] D CYP11B1 [HSA:1584] [KO:K00497] D CYP11B2 [HSA:1585] [KO:K07433] C H00260 pigmented micronodular adrenocortical disease (PPNAD) D (PPNAD1) PRKAR1A [HSA:5573] [KO:K04739] D (PPNAD2) PDE11A [HSA:50940] [KO:K13298] D (PPNAD3) PDE8B [HSA:8622] [KO:K01120] C H01111 Cortisone reductase deficiency (CRD) [PATH:hsa00030 hsa00140 hsa00980] D H6PD [HSA:9563] [KO:K13937] D HSD11B1 [HSA:3290] [KO:K15680] C H01163 Corticosteroid-binding globulin (CBG) deficiency D SERPINA6 [HSA:866] # ADigestive diseases B Mouth and dental disorders C H00432 Hereditary dentine disorders D DSPP [HSA:1834] C H00615 Amelogenesis imperfecta D (X-linked) AMELX [HSA:265] D (autosomal dominant, recessive) ENAM [HSA:10117] D (autosomal dominant) FAM83H [HSA:286077] D (autosomal recessive) KLK4 [HSA:9622] [KO:K08666] D (autosomal recessive) MMP20 [HSA:9313] [KO:K07999] D (autosomal recessive) WDR72 [HSA:256764] C H00618 Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism (AIHHT) D DLX3 [HSA:1747] [KO:K09315] C H00625 Tooth agenesis [PATH:hsa04310] D MSX1 [HSA:4487] [KO:K09341] D PAX9 [HSA:5083] [KO:K09382] D AXIN2 [HSA:8313] [KO:K04385] D LTBP3 [HSA:4054] [KO:K08023] D EDA [HSA:1896] [KO:K05480] C H00680 Primary failure of tooth eruption [PATH:hsa04080 hsa04961] D PTHR1 [HSA:5745] [KO:K04585] C H00652 Solitary median maxillary central incisor syndrome [PATH:hsa04340] D SHH [HSA:6469] [KO:K11988] C H00724 White sponge nevus D KRT4 [HSA:3851] [KO:K07605] D KRT13 [HSA:3860] [KO:K07604] C H00857 Oligodontia-colorectal cancer syndrome [PATH:hsa04310 hsa05200 hsa05210] D AXIN2 [HSA:8313] [KO:K04385] C H00872 Trismus-pseudocamptodactyly syndrome [PATH:hsa04530] D MYH8 [HSA:4626] [KO:K10352] B Gastrointestinal disorders C H00666 Peutz-Jeghers syndrome [PATH:hsa04150 hsa04920] D STK11 [HSA:6794] [KO:K07298] C H01016 Primary bile acid malabsorption [PATH:hsa04976] D SLC10A2 (polymorphism) [HSA:6555] [KO:K14342] C H01023 Juvenile polyposis syndrome [PATH:hsa04060 hsa04350 hsa04110 hsa04310 hsa04520 hsa05200 hsa05210] D SMAD4 [HSA:4089] [KO:K04501] D BMPR1A [HSA:657] [KO:K04673] C H01024 Hereditary mixed polyposis syndrome [PATH:hsa04060 hsa04350] D BMPR1A [HSA:657] [KO:K04673] C H01025 Familial adenomatous polyposis [PATH:hsa04310 hsa04810 hsa05200 hsa05210 hsa03410] D APC [HSA:324] [KO:K02085] D MUTYH [HSA:4595] [KO:K03575] C H01174 Congenital diarrhea [PATH:hsa04978] D (DIAR1) SLC26A3 [HSA:1811] [KO:K14078] D (DIAR2) MYO5B [HSA:4645] [KO:K10357] D (DIAR3) SPINT2 [HSA:10653] D (DIAR4) NEUROG3 [HSA:50674] [KO:K08028] D (DIAR5) EPCAM [HSA:4072] [KO:K06737] C H01276 X-linked chronic idiopathic intestinal pseudo-obstruction [PATH:hsa04010 hsa04510] D FLNA [HSA:2316] [KO:K04437] B Liver diseases C H00545 Polycystic liver disease [PATH:hsa04141] D PRKCSH [HSA:5589] [KO:K08288] D SEC63 [HSA:11231] [KO:K09540] C H00542 Polycystic kidney disease D PKD1 [HSA:5310] [KO:K04985] D PKD2 [HSA:5311] [KO:K04986] D PKHD1 [HSA:5314] C H00543 Renal-hepatic-pancreatic dysplasia D NPHP3 [HSA:27031] C H00551 Alagille syndrome [PATH:hsa04330] D JAG1 [HSA:182] [KO:K06052] D NOTCH2 [HSA:4853] [KO:K02599] C H00624 Familial cholestasis [PATH:hsa02010 hsa04976 hsa00120 hsa03008] D (PFIC1/BRIC1/ICP) ATP8B1 [HSA:5205] [KO:K01530] D (PFIC2/BRIC2/ICP) ABCB11 [HSA:8647] [KO:K05664] D (PFIC3/ICP) ABCB4 [HSA:5244] [KO:K05659] D (PFIC4) HSD3B7 [HSA:80270] [KO:K12408] D (NAIC) CIRH1A [HSA:84916] [KO:K14548] C H00628 Congenital bile acid synthesis defect (CBAS) [PATH:hsa00120 hsa00140 hsa04146] D (CBAS1) HSD3B7 [HSA:80270] [KO:K12408] D (CBAS2) AKR1D1 [HSA:6718] [KO:K00251] D (CBAS3) CYP7B1 [HSA:9420] [KO:K07430] D (CBAS4) AMACR [HSA:23600] [KO:K01796] C H00736 Dorfman-Chanarin syndrome D CGI58 [HSA:51099] [KO:K13699] C H00742 Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome [PATH:hsa04514 hsa04530 hsa04670] D CLDN1 [HSA:9076] [KO:K06087] C H00950 Arthrogryposis, renal dysfunction, and cholestasis D VPS33B [HSA:26276] D VIPAR [HSA:63894] C H01133 Reynolds syndrome D LBR [HSA:3930] C H01213 Gallbladder disease [PATH:hsa02010 hsa04975 hsa04976] D ABCB4 [HSA:5244] [KO:K05659] D ABCG8 [HSA:64241] [KO:K05684] C H01264 Hepatic venoocclusive disease with immunodeficiency (VODI) D SP110 [HSA:3431] B Pancreas disease C H00571 Johanson-Blizzard syndrome D UBR1 [HSA:197131] [KO:K10625] C H00543 Renal-hepatic-pancreatic dysplasia D NPHP3 [HSA:27031] C H00861 Pancreatic agenesis [PATH:hsa04930 hsa04950] D IPF1 [HSA:3651] [KO:K07594] C H00920 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis [PATH:hsa00190 hsa01100] D COX4I2 [HSA:84701] [KO:K02263] C H00932 Tropical calcific pancreatitis [PATH:hsa04142 hsa04612] D SPINK1 [HSA:6690] D CTRC (non-European population) [HSA:11330] [KO:K01311] D CTSB [HSA:1508] [KO:K01363] C H00933 Hereditary pancreatitis [PATH:hsa04972 hsa04974 hsa04971 hsa04976] D PRSS1 (gain of function) [HSA:5644] [KO:K01312] D SPINK1 (loss of function) [HSA:6690] D CFTR (polymorphysm) [HSA:1080] [KO:K05031] D PRSS2 [HSA:5645] [KO:K01312] D CTRC (polymorphysm) [HSA:11330] [KO:K01311] # AUrinary and reproductive diseases B Kidney diseases C H00428 Distal renal tubular acidosis (RTA type 1) [PATH:hsa04966] D SCL4A1 [HSA:6521] [KO:K06573] D ATP6V1B1 [HSA:525] [KO:K02147] D ATP6V0A4 [HSA:50617] [KO:K02154] C H00429 Proximal renal tubular acidosis (RTA type 2) [PATH:hsa04964] D SLC4A4 [HSA:8671] [KO:K13575] C H00241 Combined proximal and distal renal tubular acidosis (RTA type 3) [PATH:hsa04964 hsa04966] D CA2 [HSA:760] [KO:K01672] C H00243 Hyperkalemic distal renal tubular acidosis (RTA type 4) [PATH:hsa04960] D SCNN1A [HSA:6337] [KO:K04824] D SCNN1B [HSA:6338] [KO:K04825] D SCNN1G [HSA:6340] [KO:K04827] D NR3C2 [HSA:4306] [KO:K08555] D WNK1 [HSA:65125] [KO:K08867] D WNK4 [HSA:65266] [KO:K08867] C H00239 Bartter syndrome [PATH:hsa04960] D (Type 1) SLC12A1 [HSA:6557] [KO:K14425] D (Type 2) KCNJ1 [HSA:3758] [KO:K04995] D (Type 3) CLCNKB [HSA:1188] [KO:K05018] D (Type 4A) BSND [HSA:7809] D (Type 4B) CLCNKA,CLCNKB (double mutation) [HSA:1187 1188] [KO:K05017 K05018] D (Type 5) CASR [HSA:846] [KO:K04612] C H00240 Gitelman syndrome D SLC12A3 [HSA:6559] [KO:K14426] C H00252 Congenital nephrogenic diabetes insipidus (NDI) [PATH:hsa04962] D (NDI1) AVPR2 [HSA:554] [KO:K04228] D (NDI2) AQP2 [HSA:359] [KO:K09865] C H00537 Nephronophthisis-medullary cystic kidney disease, including D (NPH) NPHP1 [HSA:4867] D (NPH) INVS [HSA:27130] D (NPH) NPHP3 [HSA:27031] D (NPH) NPHP4 [HSA:261734] [KO:K16478] D (NPH) GLIS2 [HSA:84662] [KO:K09233] D (NPH) NEK8 [HSA:284086] [KO:K08857] D (NPH) TMEM67 [HSA:91147] D (NPH-like) XPNPEP3 [HSA:63929] [KO:K01262] D (MSKD2) UMOD [HSA:7369] C H00538 Senior-Loken syndrome D IQCB1 [HSA:9657] [KO:K16774] D CEP290 [HSA:80184] [KO:K16533] D NPHP4 [HSA:261734] [KO:K16478] D NPHP3 [HSA:27031] D NPHP1 [HSA:4867] C H00541 Uromodulin-associated kidney diseases [PATH:hsa04614] D UMOD [HSA:7369] D TCF2 [HSA:6928] [KO:K08034] D REN [HSA:5972] [KO:K01380] C H00542 Polycystic kidney disease D PKD1 [HSA:5310] [KO:K04985] D PKD2 [HSA:5311] [KO:K04986] D PKHD1 [HSA:5314] C H00543 Renal-hepatic-pancreatic dysplasia D NPHP3 [HSA:27031] C H00575 Renal tubular dysgenesis [PATH:hsa04614] D REN [HSA:5972] [KO:K01380] D AGT [HSA:183] [KO:K09821] D ACE [HSA:1636] [KO:K01283] D AGTR1 [HSA:185] [KO:K04166] C H00576 Pierson syndrome [PATH:hsa04510 hsa04512] D LAMB2 [HSA:3913] [KO:K06243] C H00578 Epstein syndrome [PATH:hsa04530 hsa04810] D MYH9 [HSA:4627] [KO:K10352] C H00579 Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) [PATH:hsa04510 hsa04512] D COL4A1 [HSA:1282] [KO:K06237] C H00581 Alport syndrome [PATH:ko04510 ko04512] D (autosomal) COL4A3 [HSA:1285] [KO:K06237] D (autosomal) COL4A4 [HSA:1286] [KO:K06237] D (X-linked) COL4A5 [HSA:1287] [KO:K06237] C H00582 Benign familial hematuria [PATH:hsa04510 hsa04512] D COL4A3 [HSA:1285] [KO:K06237] D COL4A4 [HSA:1286] [KO:K06237] C H00626 Nephrotic syndrome and focal segmental glomerulosclerosis [PATH:hsa04510 hsa04520 hsa04530 hsa04810] D (NS) NPHS1 [HSA:4868] D (NS) PDCN [HSA:7827] D (NS) WT1 [HSA:7490] [KO:K09234] D (NS, FSGS) PLCE1 [HSA:51196] [KO:K05860] D (FSGS) ACTN4 [HSA:81] [KO:K05699] D (FSGS) TRPC6 [HSA:7225] [KO:K04969] D (FSGS) CD2AP [HSA:23607] [KO:K13738] D (FSGS) INF2 [HSA:64423] C H00694 Dent disease [PATH:hsa00562 hsa04070] D CLCN5 [HSA:1184] [KO:K05012] D OCRL1 [HSA:4952] [KO:K01099] C H00753 Urofacial syndrome [PATH:hsa00531 hsa01100] D HPSE2 [HSA:60495] [KO:K07965] C H00818 Birt-Hogg-Dube syndrome D FLCN [HSA:201163] [KO:K09594] C H00822 Renal agenesis and Renal adysplasia D UPK3A [HSA:7380] D RET [HSA:5979] [KO:K05126] C H00888 Nephrolithiasis/osteoporosis, hypophosphatemic D (type 1) NPT2A [HSA:6569] [KO:K14683] D (type 2) NHERF1 [HSA:9368] [KO:K13365] C H00928 Nephropathy with pretibial epidermolysis bullosa and deafness D CD151 [HSA:977] [KO:K06537] C H00948 Renal hypouricemia (RHUC) D (RHUC1) SLC22A12 [HSA:116085] [KO:K08208] D (RHUC2) SLC2A9 [HSA:56606] [KO:K08146] C H00950 Arthrogryposis, renal dysfunction, and cholestasis D VPS33B [HSA:26276] D VIPAR [HSA:63894] C H01037 Vesicoureteral reflux [PATH:hsa04310] D ROBO2 [HSA:6092] [KO:K06754] D SOX17 [HSA:64321] [KO:K04495] C H01198 Fanconi renotubular syndrome (FTS) D SLC34A1 [HSA:6569] [KO:K14683] C H01260 Glomerulopathy with fibronectin deposits (GFND) [PATH:hsa04510 hsa04512 hsa04810] D FN1 [HSA:2335] [KO:K05717] C H01304 Hyperglycinuria [PATH:hsa04974 hsa04978] D SLC6A20 [HSA:54716] [KO:K05048] D SLC6A19 [HSA:340024] [KO:K05334] D SLC36A2 [HSA:153201] [KO:K14209] B Reproductive system disease C H00607 46,XY disorders of sex development (Disorders of gonadal development) [PATH:hsa04340 hsa04310] D SRY (inactivating mutation) [HSA:6736] [KO:K09266] D DHH (inactivating mutation) [HSA:50846] [KO:K11990] D SF1 (inactivating mutation) [HSA:2516] [KO:K08560] D WT1 [HSA:7490] [KO:K09234] D WNT4 (duplication) [HSA:54361] [KO:K00408] D ATRX (inactivating mutation) [HSA:546] [KO:K10779] D DAX1 (duplication) [HSA:190] [KO:K08562] D SOX9 (inactivating mutation) [HSA:6662] [KO:K09270] D DMRT1 (deletion) [HSA:1761] D CBX2 (inactivating mutation) [HSA:84733] [KO:K11451] D TSPYL1 (inactivating mutation) [HSA:7258] [KO:K11284] C H00608 46,XY disorders of sex development (Disorders in androgen synthesis or action) [PATH:hsa04114 hsa00140 hsa04020 hsa04080] D (AIS) AR [HSA:367] [KO:K08557] D (Leydig) LHCGR [HSA:3973] [KO:K04248] D STAR [HSA:6770] [KO:K16931] D CYP11A1 [HSA:1583] [KO:K00498] D CYP17 [HSA:1586] [KO:K00512] D HSD3B2 [HSA:3284] [KO:K00070] D HSD17B3 [HSA:3293] [KO:K10207] D POR [HSA:5447] [KO:K00327] D SRD5A2 [HSA:6716] [KO:K12344] D DHCR7 [HSA:1717] [KO:K00213] C H00609 46,XY disorders of sex development (Other) [PATH:hsa04060 hsa04350 hsa04080] D (Mullerian) AMH [HSA:268] [KO:K04665] D (Mullerian) AMHR2 [HSA:269] [KO:K04672] D (Hypospadias) AR [HSA:367] [KO:K08557] D (Hypospadias) MAMLD1 [HSA:10046] D (Cryptorchidism) INSL3 [HSA:3640] D (Cryptorchidism) GREAT [HSA:122042] [KO:K04307] C H00485 Robinow syndrome D ROR2 [HSA:4920] [KO:K05123] C H00569 Aarskog syndrome [PATH:hsa04810] D FGD1 [HSA:2245] [KO:K05720] C H00890 Azoospermia D USP9Y [HSA:8287] [KO:K11840] D (meiosis) SYCP3 [HSA:50511] C H01033 Congenital bilateral absence of vas deferens [PATH:hsa02010] D CFTR [HSA:1080] [KO:K05031] C H00460 Hand-foot-genital syndrome D HOXA13 [HSA:3209] [KO:K09298] C H00598 46,XX disorders of sex development (Disorders of gonadal development) [PATH:hsa04310] D (ovotesticular) SRY [HSA:6736] [KO:K09266] D (testicular) SOX9 (duplication) [HSA:6662] [KO:K09270] D (testicular) SOX10 (overexpression) [HSA:6663] [KO:K09270] D (testicular) SOX3 (overexpression) [HSA:6658] [KO:K09267] D (testicular) WNT4 (overexpression) [HSA:54361] [KO:K00408] D (testicular) RSPO1 (mutation) [HSA:284654] D (dysgenesis) FSHR [HSA:2492] [KO:K04247] D (dysgenesis) BMP15 [HSA:9210] [KO:K05498] C H00599 46,XX disorders of sex development (Disorders related to androgen excess) [PATH:hsa00140] D (Fetal) CYP21A2 [HSA:1589] [KO:K00513] D (Fetal) CYP11B1 [HSA:1584] [KO:K00497] D (Fetal) HSD3B2 [HSA:3284] [KO:K00070] D (Fetal) GR [HSA:2908] [KO:K05771] D (Fetal, Fetoplacental) POR [HSA:5447] [KO:K00327] D (Fetoplacental) CYP19A1 [HSA:1588] [KO:K07434] C H00600 46,XX disorders of sex development (Other) [PATH:hsa04310] D (Mullerian aplasia) WNT4 [HSA:54361] [KO:K00408] D (McKusick-Kaufman) MKKS [HSA:8195] [KO:K09492] C H00627 Premature ovarian failure [PATH:hsa04020 hsa04080 hsa04810] D BMP15 [HSA:9210] [KO:K05498] D FMR1 [HSA:2332] [KO:K15516] D FMR2 [HSA:953] [KO:K01510] D FOXL2 [HSA:668] [KO:K09405] D LHR [HSA:3973] [KO:K04248] D FSHR [HSA:2492] [KO:K04247] D INHA [HSA:3623] [KO:K05500] D SF1 [HSA:2516] [KO:K08560] D DIAPH2 [HSA:1730] [KO:K05741] D FIGLA [HSA:344018] [KO:K09066] D NOBOX [HSA:135935] C H00804 Multiple cutaneous and uterine leiomyomata [PATH:hsa00020 hsa01100] D FH [HSA:2271] [KO:K01679] C H01039 Ovarian hyperstimulation syndrome (OHSS) [PATH:hsa04080] D FSHR [HSA:2492] [KO:K04247] C H01208 Globozoospermia D SPATA16 [HSA:83893] D DPY19L2 [HSA:283417] # AMusculoskeletal and skin diseases B Skeletal diseases C H00505 Achondroplasia D FGFR3 [HSA:2261] [KO:K05094] C H00520 Type II collagenopathies D COL2A1 [HSA:1280] [KO:K06236] C H00519 Type XI collagenopathies D (Stickler 2, Marshall) COL11A1 [HSA:1301] [KO:K06236] D (Stickler 3, OSMED, Weissenbacher-Zweymuller) COL11A2 [HSA:1302] [KO:K06236] C H00515 Achondrogenesis IB D DTDST [HSA:1836] [KO:K14701] C H00762 SEMD, Omani type [PATH:ko00532] D CHST3 [HSA:9469] [KO:K01020] C H00761 SEMD, Pakistani type [PATH:hsa00230 hsa00450 hsa00920 hsa01100] D PAPSS2 [HSA:9060] [KO:K13811] C H00493 Dyssegmental dysplasia, Silverman-Handmaker type D (Silverman-Handmaker, Schwartz-Jampel) HSPG2 [HSA:3339] [KO:K06255] D (Simpson-Golabi-Behmel) GPC3 [HSA:2719] [KO:K08109] D (Omodysplasia 1) GPC6 [HSA:10082] [KO:K08112] D (Multiple exostoses) EXT1 [HSA:2131] [KO:K02366] D (Multiple exostoses) EXT2 [HSA:2132] [KO:K02367] C H00456 Frontometaphyseal dysplasia D FLNA [HSA:2316] [KO:K04437] C H00461 Atelostogenesis D FLNB [HSA:2317] [KO:K04437] C H00499 Spondylocarpotarsal synostosis syndrome D FLNB (nonsense mutation) [HSA:2317] [KO:K04437] C H00503 Ellis-van Creveld syndrome D (Ellis-van Creveld) EVC1 [HSA:2121] D (Ellis-van Creveld, Weyers) EVC2 [HSA:132884] C H00511 Short rib-polydactyly syndrome D (type II/III) DYNC2H1 [HSA:79659] [KO:K10414] D (type II) NEK1 [HSA:4750] [KO:K08857] C H00751 Asphyxiating thoracic dystrophy [PATH:hsa04145 hsa04962] D WDR19 [HSA:57728] D DYNC2H1 [HSA:79659] [KO:K10414] D TTC21B [HSA:79809] C H00477 Pseudoachondroplasia (PSACH) D COMP [HSA:1311] [KO:K04659] C H00476 Multiple epiphyseal dysplasia (MED) D (EDM1) COMP [HSA:1311] [KO:K04659] D (EDM2) COL9A2 [HSA:1298] [KO:K08131] D (EDM3) COL9A3 [HSA:1299] [KO:K08131] D (EDM4) DTDST [HSA:1836] [KO:K14701] D (EDM5) MATN3 [HSA:4148] C H00479 Metaphyseal dysplasias D (Schmid) COL10A1 [HSA:1300] D (McKusik) RMRP [HSA:6023] D (Jansen) PTHR1 [HSA:5745] [KO:K04585] D (SBDS) SBDS [HSA:51119] [KO:K14574] D (MAD) MMP9 [HSA:4318] [KO:K01403] D (MAD) MMP13 [HSA:4322] [KO:K07994] C H00522 TRPV4-related skeletal dysplasias D TRPV4 [HSA:59341] [KO:K04973] C H00757 Dyggve-Melchior-Clausen disease and Smith-McCort dysplasia D DYM [HSA:54808] C H00580 Schimke immunoosseous dysplasia D SMARCAL1 [HSA:50485] [KO:K14440] C H00758 Progressive pseudorheumatoid dysplasia (PPRD) D WISP3 [HSA:8838] C H00765 Spondyloepiphyseal dysplasia, Kimberley type D ACAN [HSA:176] [KO:K06792] C H00766 Wolcott-Rallison syndrome [PATH:hsa04141] D EIF2AK3 [HSA:9451] [KO:K08860] C H00760 Spondyloepiphyseal dysplasia tarda D TRAPPC2 [HSA:6399] C H00777 Spondylometaepiphyseal dysplasia, short limb-hand type D DDR2 [HSA:4921] [KO:K05125] C H00678 Achodrogenesis type IA D TRIP11 [HSA:9321] C H00474 Schneckenbecken dysplasia D SLC35D1 [HSA:23169] [KO:K15281] C H00977 Trichorhinophalangeal dysplasia D TRPS1 [HSA:7227] C H00675 Acrocapitofemoral dysplasia [PATH:hsa04340] D IHH [HSA:3549] [KO:K11989] C H00673 Weill-Marchesani syndrome D (autosomal dominant) FBN1 [HSA:2200] [KO:K06825] D (autosomal recessive) ADAMTS10 [HSA:81794] [KO:K08625] D (Weill-Marchesani-like) ADAMTS17 [HSA:170691] [KO:K08631] C H00470 Acromesomelic dysplasia, Maroteaux type D NPR2 [HSA:4882] [KO:K12324] C H00466 Grebe dysplasia [PATH:hsa04350] D GDF5 [HSA:8200] [KO:K04664] C H00467 DuPan syndrome [PATH:hsa04350] D GDF5 [HSA:8200] [KO:K04664] C H00468 Acromesomelic dysplasia with genital anomalies [PATH:hsa04350] D BMPR1B [HSA:658] [KO:K13578] C H00492 Isolated short stature D SHOX [HSA:6473] [KO:K09331] C H00485 Robinow syndrome D ROR2 [HSA:4920] [KO:K05123] C H00493 Omodysplasia 1 D (Silverman-Handmaker, Schwartz-Jampel) HSPG2 [HSA:3339] [KO:K06255] D (Simpson-Golabi-Behmel) GPC3 [HSA:2719] [KO:K08109] D (Omodysplasia 1) GPC6 [HSA:10082] [KO:K08112] D (Multiple exostoses) EXT1 [HSA:2131] [KO:K02366] D (Multiple exostoses) EXT2 [HSA:2132] [KO:K02367] C H00442 Campomelic dysplasia (CD) D SOX9 [HSA:6662] [KO:K09270] C H00462 Stuve-Wiedemann syndrome D LIFR [HSA:3977] [KO:K05058] C H00509 3M syndrome [PATH:hsa04120] D CUL7 [HSA:9820] [KO:K10613] D OBSL1 [HSA:23363] C H00619 Kenny-Caffey syndrome D TBCE [HSA:6905] C H00993 Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I) D RNU4ATAC [HSA:100151683] C H00991 Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II) D PCNT [HSA:5116] [KO:K16481] C H00494 Desbuquois syndrome [PATH:hsa00230 hsa00240] D CANT1 [HSA:124583] [KO:K12304] C H00496 Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) [PATH:hsa00100] D NSDHL [HSA:50814] [KO:K07748] C H00447 HEM skeletal dysplasia D LBR [HSA:3930] C H00207 Rhizomelic chondrodysplasia punctata [PATH:hsa00564 hsa00565 hsa04146] D (RCDP1) PEX7; peroxisomal biogenesis factor 7 [HSA:5191] [KO:K13341] D (RCDP2) GNPAT; glyceronephosphate O-acyltransferase [HSA:8443] [KO:K00649] D (RCDP3) AGPS; alkyldihydroxyacetonephosphate synthase [HSA:8540] [KO:K00803] C H00508 Blomstrand syndrome D PTHR1 [HSA:5745] [KO:K04585] C H00617 Desmosterolosis [PATH:hsa00100 hsa01100] D DHCR24 [HSA:1718] [KO:K09828] C H00613 Infantile cortical hyperostosis D COL1A1 [HSA:1277] [KO:K06236] C H00968 Raine syndrome D FAM20C [HSA:56975] C H00436 Osteopetrosis [PATH:hsa04380 hsa05323] D (neonatal) TCIRG1 [HSA:10312] [KO:K02154] D (neonatal) OSTM1 [HSA:28962] D (neonatal, intermedite, late-onset 2) CLCN7 [HSA:1186] [KO:K05016] D (renal) CA2 [HSA:760] [KO:K01672] D (late-onset 1) LRP5 [HSA:4041] [KO:K03068] D PLEKHM1 [HSA:440456] D (osteoclast poor) RANKL [HSA:8600] [KO:K05473] D (osteoclast poor) RANK [HSA:8792] [KO:K05147] C H00450 Sclerosing bone dysplasias [PATH:hsa04310] D LRP5 [HSA:4041] [KO:K03068] C H00540 Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID) [PATH:hsa04010 hsa04062 hsa04210 hsa04380 hsa04660 hsa04662] D IKBKG [HSA:8517] [KO:K07210] C H00452 Osteopoikilosis D LEMD3 [HSA:23592] C H00444 Osteopathia striata with cranial sclerosis D FAM123B [HSA:139285] C H00491 Craniometaphyseal dysplasia D ANKH [HSA:56172] C H00434 Progressive diaphyseal dysplasia [PATH:hsa04350] D TGFB1 [HSA:7040] [KO:K13375] C H00449 Oculodentodigital dysplasia D GJA1 [HSA:2697] [KO:K07372] C H00486 Sclerosteosis D (Sclerosteosis) SOST (mutation in cysteine knot-like domain) [HSA:50964] [KO:K16834] D (van Buchem) SOST (homozygous 52 kB deletion downstream from SOST) [HSA:50964] [KO:K16834] C H00487 Trichodentoosseous dysplasia D DLX3 [HSA:1747] [KO:K09315] C H00457 Primary hypertrophic osteoarthropathy (PHO) D HPGD [HSA:3248] [KO:K00069] C H00490 Diaphyseal dysplasia with anemia (Ghosal) [PATH:hsa00590] D TBXAS1 [HSA:6916] [KO:K01832] C H00506 Osteogenesis imperfecta D (type I, II, III, IV) COL1A1 [HSA:1277] [KO:K06236] D (type I, II, III, IV) COL1A2 [HSA:1278] [KO:K06236] D (type VII) CRTAP [HSA:10491] D (type VIII) LEPRE1 [HSA:64175] [KO:K08134] D (type IX) PPIB [HSA:5479] [KO:K03768] C H00451 Osteoporosis-pseudoglioma syndrome (OPPG) [PATH:hsa04310] D LRP5 [HSA:4041] [KO:K03068] C H00514 Bruck syndrome D PLOD2 [HSA:5352] [KO:K13645] D FKBP10 [HSA:60681] [KO:K09575] C H00558 Geroderma osteodysplasticum D SCYL1BP1 [HSA:92344] D PYCR1 [HSA:5831] [KO:K00286] C H00495 Eiken dysplasia D PTHR1 [HSA:5745] [KO:K04585] C H00437 Paget's disease of bone [PATH:hsa04380] D (PDB FEO PDB2 ESH) RANK (mutation) [HSA:8792] [KO:K05147] D (PDB) SQSTM1 (mutation) [HSA:8878] [KO:K14381] D (JPD) OPG (mutation) [HSA:4982] [KO:K05148] C H00614 Infantile systemic hyalinosis and juvenile hyaline fibromatosis D CMG2 [HSA:118429] C H00665 Mandibuloacral dysplasia D (type A) LMNA [HSA:4000] [KO:K12641] D (type B) ZMPSTE24 [HSA:10269] [KO:K06013] C H00601 Hutchinson-Gilford progeria syndrome D LMNA [HSA:4000] [KO:K12641] C H00472 Torg-Winchester syndrome D MMP2 [HSA:4313] [KO:K01398] C H00623 Hajdu-Cheney syndrome [PATH:hsa04330] D NOTCH2 [HSA:4853] [KO:K02599] C H00497 Cherubism D SH3BP2 [HSA:6452] [KO:K07984] C H00501 Fibrous dysplasia, polyostotic D GNAS [HSA:2778] [KO:K04632] C H00441 Progressive osseous heteroplasia (POH) D GNAS [HSA:2778] [KO:K04632] C H00498 Gnathodiaphyseal dysplasia D TMEM16E [HSA:203859] C H00443 Osteoglophonic dysplasia D FGFR1 [HSA:2260] [KO:K04362] C H00430 Fibrodysplasia ossificans progressiva (FOP) [PATH:hsa04350] D ACVR1 (polymorphysm) [HSA:90] [KO:K04675] C H01018 Metachondromatosis [PATH:hsa04630 hsa04650 hsa04670 hsa04722 hsa04920] D PTPN11 [HSA:5781] [KO:K07293] C H00521 Cleidocranial dysplasia D RUNX2 [HSA:860] [KO:K09278] C H00458 Craniosynostosis D (Pfeiffer) FGFR1 [HSA:2260] [KO:K04362] D (Apert, Pfeiffer, Crouzon, Jackson-Weiss, Beare-Stevenson, Antley-Bixler) FGFR2 [HSA:2263] [KO:K05093] D (Muenke) FGFR3 [HSA:2261] [KO:K05094] D (Saethre-Chotzen) TWIST1 [HSA:7291] [KO:K09069] D (Boston) MSX2 [HSA:4488] [KO:K09341] D (Antley-Bixler) POR [HSA:5447] [KO:K00327] D (Carpenter) RAB23 [HSA:51715] [KO:K06234] D (Craniofrontonasal) EFNB1 [HSA:1947] [KO:K05463] D (Noonan) KRAS [HSA:3845] [KO:K07827] D (Baller-Gerold) RECQL4 [HSA:9401] [KO:K10730] C H00475 Enlarged parietal foramina/cranium bifidum D (parietal foramina 1, parietal foramina with cleidocranial dysplasia) MSX2 [HSA:4488] [KO:K09341] D (parietal foramina 2) ALX4 [HSA:60529] [KO:K09451] C H00454 Oral-facial-digital syndrome 1 D OFD1 [HSA:8481] [KO:K16480] C H00463 Currarino syndrome D HLXB9 [HSA:3110] [KO:K08025] C H00517 Spondylocostal dysostosis [PATH:hsa04330] D (SCD1) DLL3 [HSA:10683] [KO:K06051] D (SCD2) MESP2 [HSA:145873] [KO:K09076] D (SCD3) LNFG [HSA:3955] [KO:K05948] D (SCD4) HES7 [HSA:84667] [KO:K09087] C H00464 Patella dysplasias D (small) TBX4 [HSA:9496] [KO:K10178] D (nail) LMX1B [HSA:4010] [KO:K09371] D (ear) ORC1 [HSA:4998] [KO:K02603] D (ear) ORC4 [HSA:5000] [KO:K02606] D (ear) CDT1 [HSA:81620] [KO:K10727] C H00482 Brachydactyly A/B/D/E [PATH:hsa04340 hsa04350] D (BDA1) IHH [HSA:3549] [KO:K11989] D (BDA2) BMPR1B [HSA:658] [KO:K13578] D (BDB) ROR2 [HSA:4920] [KO:K05123] D (BDB) NOG [HSA:9241] [KO:K04658] D (BDD, BDE) HOXD13 [HSA:3239] [KO:K09298] C H00483 Brachydactyly C [PATH:hsa04350] D GDF5 [HSA:8200] [KO:K04664] C H00510 Feingold syndrome D NMYC [HSA:4613] [KO:K09109] C H00460 Hand-foot-genital syndrome D HOXA13 [HSA:3209] [KO:K09298] C H00500 Keutel syndrome D MGP [HSA:4256] C H00561 Brachydacytly-mental retardation syndrome D (brachydacytly-mental retardation) HDAC4 [HSA:9759] [KO:K11406] D (Smith-Magenis) RAI1 [HSA:10743] C H00504 Rubinstein-Taybi syndrome D CREBBP [HSA:1387] [KO:K04498] D EP300 [HSA:2033] [KO:K04498] C H00629 Acheiropodia D LMBR1 (deletion) [HSA:64327] C H00631 Cornelia de Lange syndrome (CdLS) [PATH:hsa04110 hsa04114] D NIPBL [HSA:25836] [KO:K06672] D SMC1A [HSA:8243] [KO:K06636] D SMC3 [HSA:9126] [KO:K06669] C H00433 Holt-Oram syndrome D TBX5 [HSA:6910] [KO:K10179] C H00634 Duane-radial ray syndrome D SALL4 [HSA:57167] C H00572 Roberts syndrome D ESCO2 [HSA:157570] [KO:K11268] C H00636 Tetra-amelia [PATH:hsa04310] D WNT3 [HSA:7473] [KO:K00312] C H00637 Ulnar-mammary syndrome D TBX3 [HSA:6926] [KO:K10177] C H00638 Ectrodactyly-ectodermal dysplasia cleft-palate syndrome (EEC syndrome) D TP63 [HSA:8626] [KO:K10149] C H00639 Ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM syndrome) [PATH:hsa04514] D CDH3 [HSA:1001] [KO:K06796] C H00640 Limb-mammary syndrome D TP63 [HSA:8626] [KO:K10149] C H00641 ADULT syndrome D TP63 (gain of function) [HSA:8626] [KO:K10149] C H00471 Split-hand/foot malformation (SHFM) D (SHFM4) TP63 [HSA:8626] [KO:K10149] D (SHFM6) WNT10B [HSA:7480] [KO:K01357] C H00855 Triphalangeal thumb [PATH:hsa04340] D LMBR1 (mutation in intron 5) [HSA:64327] C H00502 Pallister-Hall Syndrome [PATH:hsa04340] D GLI3 [HSA:2737] [KO:K06230] C H00459 Synpolydactyly D HOXD13 [HSA:3239] [KO:K09298] C H00573 Townes-Brocks syndrome D SALL1 [HSA:6299] C H00263 Acrocallosal syndrome [PATH:hsa04340] D GLI3 [HSA:2737] [KO:K06230] C H00484 Proximal symphalangism [PATH:hsa04350 hsa04010 hsa04810] D GDF5 [HSA:8200] [KO:K04664] D NOG [HSA:9241] [KO:K04658] D FGF9 [HSA:2254] [KO:K04358] C H00867 Radioulnar synostosis with amegakaryocytic thrombocytopenia D HOXA11 [HSA:3207] [KO:K09296] C H00778 Tarsal-carpal coalition syndrome [PATH:hsa04350] D NOG [HSA:9241] [KO:K04658] C H00863 Spondylo-megaepiphyseal-metaphyseal dysplasia D NKX3-2 [HSA:579] [KO:K09995] C H00929 Congenital vertical talus D HOXD10 [HSA:3236] [KO:K09295] C H00438 Nasu-Hakola disease [PATH:hsa04380] D TREM2 [HSA:54209] [KO:K14378] D DAP12 [HSA:7305] [KO:K07992] C H00431 Ossification of the posterior longitudinal ligament of spine (OPLL) [PATH:hsa04350] D COL11A2 (polymorphysm) [HSA:1302] [KO:K06236] D NPPS [HSA:5167] [KO:K01513] D COL6A1 (polymorphysm) [HSA:1291] [KO:K06238] D TGFB3 (polymorphysm) [HSA:7043] [KO:K13377] C H00445 Osteoarthritis with mild chondrodysplasia D COL2A1 [HSA:1280] [KO:K06236] C H00448 Familial osteochondritis dissecans D ACAN [HSA:176] [KO:K06792] C H00889 MED12-related disorders D MED12 [HSA:9968] [KO:K15162] C H01194 X-linked chondrodysplasia punctata [PATH:hsa00100] D (CDPX1) ARSE [HSA:415] [KO:K12374] D (CDPX2) EBP [HSA:10682] [KO:K01824] C H01236 Familial articular chondrocalcinosis D ANKH [HSA:56172] B Muscular diseases C H00120 Dystroglycanopathy [PATH:hsa00514] D POMT1; protein-O-mannosyltransferase 1 [HSA:10585] [KO:K00728] D POMT2; protein-O-mannosyltransferase 2 [HSA:29954] [KO:K00728] D POMGNT1; protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase [HSA:55624] [KO:K09666] D FKTN; fukutin [HSA:2218] D FKRP; fukutin related protein [HSA:79147] D LARGE [HSA:9215] [KO:K09668] C H00562 Dystrophinopathies D DMD [HSA:1756] [KO:K10366] D MYF6 [HSA:4618] C H00565 Sarcoglycanopathies D (LGMD2C) SGCG [HSA:6445] [KO:K12564] D (LGMD2D) SGCA [HSA:6442] [KO:K12565] D (LGMD2E) SGCB [HSA:6443] [KO:K12566] D (LGMD2F) SGCD [HSA:6444] [KO:K12563] C H00566 Dysferlinopathies D DYSF [HSA:8291] C H00567 Caveolinopathies [PATH:hsa04144 hsa04510] D CAV3 [HSA:859] [KO:K12959] C H00568 Myotonic dystrophy (DM) D (DM1) DMPK [HSA:1760] [KO:K08788] D (DM2) ZNF9 [HSA:7555] [KO:K09250] C H00590 Congenital muscular dystrophies (CMD/MDC) [PATH:hsa00514 hsa04510 hsa04810] D (MDC1A) LAMA2 [HSA:3908] [KO:K05637] D (UCMD, BM) COL6A [HSA:1291 1292 1293] [KO:K06238] D (ITGA7-deficient CMD) ITGA7 [HSA:3679] [KO:K06583] D (CMDH) ITGA9 [HSA:3680] [KO:K06585] D (CMD with epidermolysis bullosa) PLEC [HSA:5339] [KO:K10388] D (WWS) POMT1 [HSA:10585] [KO:K00728] D (WWS) POMT2 [HSA:29954] [KO:K00728] D (WWS, FCMD) FKTN [HSA:2218] D (WWS, MDC1C) FKRP [HSA:79147] D (WWS, MDC1D) LARGE [HSA:9215] [KO:K09668] D (MEB) POMGnT1 [HSA:55624] [KO:K09666] D (RSS) SEPN1 [HSA:57190] D (LMNA-deficient CMD) LMNA [HSA:4000] [KO:K12641] C H00591 Facioscapulohumeral muscular dystrophy (FSHD) D DUX4 [HSA:22947] C H00704 Oculopharyngeal muscular dystrophy (OPMD) [PATH:hsa03015] D PABPN1 [HSA:8106] [KO:K14396] C H00592 Calpainopathy D CAPN3 [HSA:825] [KO:K08573] C H00593 Limb-girdle muscular dystrophy (LGMD) [PATH:hsa00514 hsa04144 hsa04510 hsa04120] D (LGMD1A) TTID [HSA:9499] D (LGMD1B) LMNA [HSA:4000] [KO:K12641] D (LGMD1C) CAV3 [HSA:859] [KO:K12959] D (LGMD2A) CAPN3 [HSA:825] [KO:K08573] D (LGMD2B) DYSF [HSA:8291] D (LGMD2C) SGCG [HSA:6445] [KO:K12564] D (LGMD2D) SGCA [HSA:6442] [KO:K12565] D (LGMD2E) SGCB [HSA:6443] [KO:K12566] D (LGMD2F) SGCD [HSA:6444] [KO:K12563] D (LGMD2G) TCAP [HSA:8557] D (LGMD2H) TRIM32 [HSA:22954] [KO:K10607] D (LGMD2I) FKRP [HSA:79147] D (LGMD2K) POMT1 [HSA:10585] [KO:K00728] D (LGMD2L) ANO5 [HSA:203859] D (LGMD2M) FKTN [HSA:2218] D (LGMD2N) POMT2 [HSA:29954] [KO:K00728] D (LGMD2O) POMGnT1 [HSA:55624] [KO:K09666] D (LGMD2P) DAG1 [HSA:1605] [KO:K06265] D (LGMD2Q) PLEC1 [HSA:5339] [KO:K10388] C H00594 Distal muscular dystrophies [PATH:hsa00520 hsa04260 hsa04530 hsa04141] D (TMD) TTN [HSA:7273] [KO:K12567] D (DMRV) GNE [HSA:10020] [KO:K12409] D (MM1) DYSF [HSA:8291] D (MM3) ANO5 [HSA:203859] D (MPD1) MYH7 [HSA:4625] [KO:K10352] D (DNM) NEB [HSA:4703] D (MFM1) DES [HSA:1674] [KO:K07610] D (MFM2) CRYAB [HSA:1410] [KO:K09542] D (MFM3) TTID [HSA:9499] D (MFM4) ZASP [HSA:11155] D (MPD2) MATR3 [HSA:9782] [KO:K13213] C H00595 Myofibrillar myopathies (MFM) [PATH:hsa04141 hsa04010 hsa04510] D (MFM1) DES [HSA:1674] [KO:K07610] D (MFM2) CRYAB [HSA:1410] [KO:K09542] D (MFM3) TTID [HSA:9499] D (MFM4) ZASP [HSA:11155] D (MFM5) FLNC [HSA:2318] [KO:K04437] D (BAG3-related MFM) BAG3 C H00596 Nonaka distal myopathy (NM) [PATH:hsa00520] D GNE [HSA:10020] [KO:K12409] C H00655 McLeod syndrome D XK [HSA:7504] C H00656 Scapuloperoneal myopathy (SPM) [PATH:hsa04260 hsa04530] D MYH7 [HSA:4625] [KO:K10352] D DES [HSA:1674] [KO:K07610] D FHL1 [HSA:2273] [KO:K14365] C H00657 Reducing body myopathy (RBM) D FHL1 [HSA:2273] [KO:K14365] C H00697 X-linked myopathy with postural muscle atrophy (XMPMA) D FHL1 [HSA:2273] [KO:K14365] C H00698 Nemaline myopathy [PATH:hsa04260 hsa04360 hsa04666 hsa04810] D TRM3 [HSA:7170] [KO:K09290] D NEB [HSA:4703] D ACTA1 [HSA:58] [KO:K10354] D TRM2 [HSA:7169] [KO:K10374] D TNNT1 [HSA:7138] [KO:K10372] D CFL2 [HSA:1073] [KO:K05765] D KBTBD13 [HSA:390594] C H00699 Central core disease [PATH:hsa04020 hsa04730] D RYR1 [HSA:6261] [KO:K04961] C H00700 Centronuclear myopathy [PATH:hsa00562 hsa04070 hsa04144 hsa04721 hsa04961] D (XLMTM) MTM1 [HSA:4534] [KO:K01108] D (AD) DNM2 [HSA:1785] [KO:K01528] D (AR) BIN1 [HSA:274] C H00701 Congenital fiber type disproportion (CFTD) [PATH:hsa04260] D ACTA1 [HSA:58] [KO:K10354] D SEPN1 [HSA:57190] D TRM3 [HSA:7170] [KO:K09290] C H00702 Cap myopathy [PATH:hsa04260] D TRM2 [HSA:7169] [KO:K10374] D TRM3 [HSA:7170] [KO:K09290] D ACTA1 [HSA:58] [KO:K10354] C H00703 Myosin storage myopathy (MSM) [PATH:hsa04260 hsa04530] D MYH7 [HSA:4625] [KO:K10352] C H00705 Myotonia congenita D CLCN1 [HSA:1180] [KO:K05010] C H00743 Paramyotonia congenita (PMC) D SCN4A [HSA:6329] [KO:K04837] C H00744 Potassium-aggravated myotonias (PAMs) D SCN4A [HSA:6329] [KO:K04837] C H00745 Hyperkalemic periodic paralysis (HyperPP) D SCN4A [HSA:6329] [KO:K04837] C H00746 Hypokalemic periodic paralysis (HypoPP) [PATH:hsa04010 hsa04020 hsa04260 hsa04270 hsa04725 hsa04727 hsa04912] D (HypoPP1) CACNA1S [HSA:779] [KO:K04857] D (HypoPP2) SCN4A [HSA:6329] [KO:K04837] C H00747 Thyrotoxic hypokalemic periodic paralysis (TPP) D KCNJ18 [HSA:100134444] C H00748 Andersen-Tawil syndrome (ATS) [PATH:hsa04725] D KCNJ2 [HSA:3759] [KO:K04996] C H00811 Distal arthrogryposis (DA) [PATH:hsa04260 hsa04530] D (DA1, DA2B) TPM2 [HSA:7169] [KO:K10374] D (DA2B) TNNI2 [HSA:7136] [KO:K12043] D (DA2B) TNNT3 [HSA:7140] [KO:K12046] D (DA2A, DA2B) MYH3 [HSA:4621] [KO:K10352] D (DA7) MYH8 [HSA:4626] [KO:K10352] C H00865 Lethal congenital contractural syndrome (LCCS) [PATH:hsa00562 hsa04012 hsa04020 hsa04070 hsa04144 hsa04510 hsa04810] D (LCCS1) GLE1 [HSA:2733] D (LCCS2) ERBB3 [HSA:2065] [KO:K05084] D (LCCS3) PIP5K1C [HSA:23396] [KO:K00889] C H00950 Arthrogryposis, renal dysfunction, and cholestasis D VPS33B [HSA:26276] D VIPAR [HSA:63894] C H01129 Brody myopathy [PATH:hsa04020] D ATP2A1 [HSA:487] [KO:K05853] C H01030 Lethal arthrogryposis with anterior horn cell disease D GLE1 [HSA:2733] C H01200 Fatal infantile cardioencephalomyopathy D SCO2 [HSA:9997] [KO:K07152] C H01229 Inclusion body myopathy 3 (IBM3) [PATH:hsa04530] D MHY2 [HSA:4620] [KO:K10352] C H01291 Spheroid body myopathy (SBM) D MYOT [HSA:9499] C H01310 Multi-minicore disease (MmD) [PATH:hsa04020 hsa04730] D SEPN1 [HSA:57190] D RYR1 [HSA:6261] [KO:K04961] B Skin and soft tissue diseases C H00420 Familial partial lipodystrophy [PATH:hsa03320 hsa04910] D LMNA [HSA:4000] [KO:K12641] D PPARG [HSA:5468] [KO:K08530] D AKT2 [HSA:208] [KO:K04456] D LMNB2 [HSA:84823] [KO:K07611] C H00266 Hereditary spastic paraplegia (SPG) D (SPG1) L1CAM [HSA:3897] [KO:K06550] D (SPG2) PLP1 [HSA:5354] D (SPG3) ATL1 [HSA:51062] D (SPG4) SPAST [HSA:6683] [KO:K13254] D (SPG5) CYP7B1 [HSA:9420] [KO:K07430] D (SPG6) NIPA1 [HSA:123606] D (SPG7) SPG7 [HSA:6687] [KO:K09552] D (SPG8) KIAA0196 [HSA:9897] D (SPG10) KIF5A [HSA:3798] [KO:K10396] D (SPG11) SPG11 [HSA:80208] D (SPG13) HSPD1 [HSA:3329] [KO:K04077] D (SPG15) ZFYVE26 [HSA:23503] D (SPG17) BSCL2 [HSA:26580] D (SPG20) SPG20 [HSA:23111] D (SPG21) SPG21 [HSA:51324] D (SPG31) REEP1 [HSA:65055] D (SPG33) ZFYVE27 [HSA:118813] D (SPG39) PNPLA6 [HSA:10908] [KO:K14676] D (SPG42) SLC33A1 [HSA:9197] [KO:K03372] D (SPG44) GJC2 [HSA:57165] [KO:K07619] D (SPG48) AP5Z1 [HSA:9907] C H00557 Cutis laxa D (ADCL) ELN [HSA:2006] [KO:K14211] D (ARCL1) FBLN4 [HSA:30008] D (ARCL1) FBLN5 [HSA:10516] D (ARCL2, wrinkly) ATP6V0A2 [HSA:23545] [KO:K02154] D (XRCL) ATP7A [HSA:538] [KO:K01533] C H00560 Pseudoxanthoma elasticum [PATH:hsa02010] D (PXE) ABCC6 [HSA:368] [KO:K05669] D (PXE-like) GGCX [HSA:2677] [KO:K10106] C H00558 Geroderma osteodysplasticum D SCYL1BP1 [HSA:92344] D PYCR1 [HSA:5831] [KO:K00286] C H00584 Epidermolysis bullosa, simplex D (EBS-DM, EBS-K, EBS-WC, recessive) KRT14 [HSA:3861] [KO:K07604] D (EBS-DM, EBS-K, EBS-WC, EBS-MP, migratory circinate erythema) KRT5 [HSA:3852] [KO:K07605] D (lethal acantholytic) DSP [HSA:1832] [KO:K10381] C H00585 Epidermolysis bullosa, hemidesmosomal [PATH:hsa04510 hsa04512] D (GABEB) LAMA3 [HSA:3909] [KO:K06240] D (EBS-PA, EBS-MD, EBS-Ogna) PLEC1 [HSA:5339] [KO:K10388] C H00586 Epidermolysis bullosa, junctional [PATH:hsa04510 hsa04512 ko04514 hsa04810] D (JEB-H, JEB-nH) LAMA3 [HSA:3909] [KO:K06240] D (JEB-H, JEB-nH) LAMB3 [HSA:3914] [KO:K06244] D (JEB-H, JEB-nH) LAMC2 [HSA:3918] [KO:K06246] D (JEB-nH) COL17A1 [HSA:1308] [KO:K07603] D (JEB-PA) ITGB4 [HSA:3691] [KO:K06525] D (JEB-PA) ITGA6 [HSA:3655] [KO:K06485] C H00587 Epidermolysis bullosa, dysprophic D COL7A1 [HSA:1294] [KO:K16628] C H00588 Kindler syndrome D KIND1 [HSA:55612] C H00651 Ectodermal dysplasia [PATH:hsa04060] D (X-linked) ED1 [HSA:1896] [KO:K05480] D (autosomal) EDAR [HSA:10913] [KO:K05162] D (autosomal) EDARADD [HSA:128178] C H00645 Incontinentia pigmenti [PATH:hsa04010 hsa04062 hsa04210 hsa04380 hsa04660 hsa04662 hsa04920] D IKBKG [HSA:8517] [KO:K07210] C H00095 Ectodermal dysplasia associated immunodeficiency (EDA-ID) [PATH:hsa05340] D IKBKG [HSA:8517] [KO:K07210] D IKBA [HSA:4792] [KO:K04734] C H00540 Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID) [PATH:hsa04010 hsa04062 hsa04210 hsa04380 hsa04660 hsa04662] D IKBKG [HSA:8517] [KO:K07210] C H00638 Ectrodactyly-ectodermal dysplasia cleft-palate syndrome (EEC syndrome) D TP63 [HSA:8626] [KO:K10149] C H00641 ADULT syndrome D TP63 (gain of function) [HSA:8626] [KO:K10149] C H00640 Limb-mammary syndrome D TP63 [HSA:8626] [KO:K10149] C H00487 Trichodentoosseous dysplasia D DLX3 [HSA:1747] [KO:K09315] C H00503 Ellis-van Creveld syndrome and Weyers acrodental dysostosis D (Ellis-van Creveld) EVC1 [HSA:2121] D (Ellis-van Creveld, Weyers) EVC2 [HSA:132884] C H00648 Ectodermal dysplasia, hidrotic D GJB6 [HSA:10804] [KO:K07625] C H00644 Ectodermal dysplasia/skin fragility syndrome D PKP1 [HSA:5317] [KO:K10387] C H00639 Ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM syndrome) [PATH:hsa04514] D CDH3 [HSA:1001] [KO:K06796] C H00646 Odontoonychodermal dysplasia [PATH:hsa04310 hsa04340 hsa04916 hsa05200] D WNT10A (nonsense mutation) [HSA:80326] [KO:K01357] C H00647 Ectodermal dysplasia-syndactyly syndrome (EDSS) [PATH:hsa04520] D PVRL4 [HSA:81607] [KO:K06593] C H00681 Acne inversa [PATH:hsa04310 hsa04330 hsa04722] D PSENEN [HSA:55851] [KO:K06170] D PSEN1 [HSA:5663] [KO:K04505] D NCSTN [HSA:23385] [KO:K06171] C H00683 Anonychia congenita D RSPO4 [HSA:343637] C H00684 Pachyonychia congenita D KRT6A [HSA:3853] [KO:K07605] D KRT6B [HSA:3854] [KO:K07605] D KRT16 [HSA:3868] [KO:K07604] D KRT17 [HSA:3872] [KO:K07604] C H00667 Woolly hair [PATH:hsa04080] D (ADWH) KRT74 [HSA:121391] [KO:K07605] D (ADWH/hypotrichosis) P2RY5 [HSA:10161] [KO:K04273] D (ADWH/hypotrichosis) LIPH [HSA:200879] C H00670 Monilethrix D KRT81 [HSA:3887] [KO:K07605] D KRT83 [HSA:3889] [KO:K07605] D KRT86 [HSA:3892] [KO:K07605] C H00671 Netherton syndrome D SPINK5 [HSA:11005] C H00672 Pseudofolliculitis barbae D KRT75 (polymorphysm) [HSA:9119] [KO:K07605] C H00691 Epidermolytic hyperkeratosis (EHK) D KRT1 [HSA:3848] [KO:K07605] D KRT10 [HSA:3858] [KO:K07604] C H00693 Ichthyosis bullosa of Siemens D KRT2E [HSA:3849] [KO:K07605] C H00735 Ichthyosis vulgaris D FLG [HSA:2312] C H00134 X-linked ichthyosis (XLI) [PATH:hsa00140] D STS; steryl-sulfatase [HSA:412] [KO:K01131] C H00734 Lamellar ichthyosis and Non-bullous congenital ichthyosiform erythroderma (NBCIE) [PATH:hsa02010 hsa00590 hsa01100] D TGM1 [HSA:7051] [KO:K05619] D ABCA12 [HSA:26154] [KO:K05646] D ALOX12B [HSA:242] [KO:K08021] D ALOXE3 [HSA:59344] D ICHYN [HSA:348938] D CYP4F22 [HSA:126410] [KO:K00490] C H00733 Harlequin ichthyosis [PATH:hsa02010] D ABCA12 [HSA:26154] [KO:K05646] C H00162 Sjogren-Larsson syndrome [PATH:hsa00071] D ALDH3A2; aldehyde dehydrogenase [HSA:224] [KO:K00128] C H00712 Keratitis-ichthyosis-deafness syndrome D GJB2 [HSA:2706] [KO:K07621] C H00736 Dorfman-Chanarin syndrome D CGI58 [HSA:51099] [KO:K13699] C H00707 Ichthyosis hystrix, Curth-Macklin type D KRT1 [HSA:3848] [KO:K07605] C H00708 Naegeli-Franceschetti-Jadassohn syndrome D KRT14 [HSA:3861] [KO:K07604] C H00710 Erythrokeratodermia variabilis D GJB3 [HSA:2707] [KO:K07622] D GJB4 [HSA:127534] [KO:K07623] C H00695 Mal de Meleda D SLURP1 [HSA:57152] C H00696 Haim-Munk syndrome [PATH:hsa04142] D CTSC; cathepsin C [HSA:1075] [KO:K01275] C H00714 Vohwinkel syndrome D (VS) GJB2 [HSA:2706] [KO:K07621] D (ichthyosis) LOR [HSA:4014] [KO:K10385] C H00715 Darier disease [PATH:hsa04020] D ATP2A2 [HSA:488] [KO:K05853] C H00722 Epidermolytic palmoplantar keratoderma (EPPK) D KRT9 [HSA:3857] [KO:K07604] D KRT1 [HSA:3848] [KO:K07605] C H00723 Non-epidermolytic palmoplantar keratoderma (NEPPK) D KRT16 [HSA:3868] [KO:K07604] C H00717 Striate palmoplantar keratoderma D (type I) DSG1 [HSA:1828] [KO:K07596] D (type II) DSP [HSA:1832] [KO:K10381] D (type III) KRT1 [HSA:3848] [KO:K07605] C H00716 Palmoplantar keratoderma with deafness D GJB2 [HSA:2706] [KO:K07621] C H00737 Acral peeling skin syndrome D TGM5 [HSA:9333] [KO:K05622] C H00738 Ichthyosis with confetti D KRT10 [HSA:3858] [KO:K07604] C H00739 Ichthyosis with hypotrichosis D ST14 [HSA:6768] [KO:K08670] C H00740 Ichthyosis follicularis, alopecia, and photophobia syndrome [PATH:hsa04141] D MBTPS2 [HSA:51360] [KO:K07765] C H00741 Ichthyosis prematurity syndrome D SLC27A4 [HSA:10999] [KO:K08745] C H00742 Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome [PATH:hsa04514 hsa04530 hsa04670] D CLDN1 [HSA:9076] [KO:K06087] C H00724 White sponge nevus D KRT4 [HSA:3851] [KO:K07605] D KRT13 [HSA:3860] [KO:K07604] C H00750 Keratosis follicularis spinulosa decalvans D (X-linked) MBTPS2 [HSA:51360] [KO:K07765] D (X-linked) SAT1 [HSA:6303] [KO:K00657] C H00755 Acrokeratosis verruciformis [PATH:hsa04020] D ATP2A2 [HSA:488] [KO:K05853] C H00763 Transient bullous dermolysis of the newborn D COL7A1 [HSA:1294] [KO:K16628] C H00818 Birt-Hogg-Dube syndrome D FLCN [HSA:201163] [KO:K09594] C H00820 Bjornstad syndrome D BCS1L [HSA:617] [KO:K08900] C H00793 Poikiloderma with neutropenia D C16orf57 [HSA:79650] C H00795 Seborrhea-like dermatitis with psoriasiform element D ZNF750 [HSA:79755] C H00796 Dermatopathia pigmentosa reticularis D KRT14 [HSA:3861] [KO:K07604] C H00799 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome [PATH:hsa04130] D SNAP29 [HSA:9342] [KO:K08509] C H00804 Multiple cutaneous and uterine leiomyomata [PATH:hsa00020 hsa01100] D FH [HSA:2271] [KO:K01679] C H00813 Laryngoonychocutaneous syndrome [PATH:hsa04510 hsa04512] D LAMA3 [HSA:3909] [KO:K06240] C H00780 Atrichia with papular lesions D HR [HSA:55806] C H00781 Schopf-Schulz-Passarge syndrome D WNT10A [HSA:80326] [KO:K01357] C H00782 Hypotrichosis and recurrent skin vesicles D DSC3 [HSA:1825] [KO:K07602] C H00784 Localized autosomal recessive hypotrichosis [PATH:hsa04961 hsa04978] D HR [HSA:55806] D DSG4 [HSA:147409] [KO:K07599] D P2Y5 [HSA:10161] [KO:K04273] D VDR [HSA:7421] [KO:K08539] D LIPH [HSA:200879] C H00785 Hypotrichosis, congenital, with juvenile macular dystrophy [PATH:hsa04514] D CDH3 [HSA:1001] [KO:K06796] C H00786 Hypotrichosis simplex of scalp D CDSN [HSA:1041] C H00858 Marie-Unna hereditary hypotrichosis (MUHH) D HR [HSA:55806] C H00790 Keratosis linearis with ichthyosis congenita and sclerosing keratoderma [PATH:hsa03050] D POMP [HSA:51371] [KO:K11599] C H00791 Disseminated superficial actinic porokeratosis (DSAP) D SART3 [HSA:9733] C H00842 Epidermodysplasia verruciformis D EVER1 [HSA:11322] D EVER2 [HSA:147138] C H00880 Dyschromatosis symmetrica hereditaria [PATH:hsa04623] D ADAR [HSA:103] [KO:K12968] C H00884 Familial progressive hyperpigmentation [PATH:hsa04916] D KITLG [HSA:4254] [KO:K05461] C H00885 Hypomelanosis of Ito D chromosomal mosaicism C H00893 Skin fragility-woolly hair syndrome D DSP [HSA:1832] [KO:K10381] C H00895 Basal cell nevus syndrome [PATH:hsa04340 hsa05200 hsa05217] D PTCH1 [HSA:5727] [KO:K06225] D PTCH2 [HSA:8643] [KO:K11101] D SUFU [HSA:51684] [KO:K06229] C H00904 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities D LTBP4 [HSA:8425] [KO:K08023] C H00906 Macrocephaly, alopecia, cutis laxa, and scoliosis D RIN2 [HSA:54453] C H00921 Revesz syndrome D TINF2 [HSA:26277] [KO:K11112] C H00928 Nephropathy with pretibial epidermolysis bullosa and deafness D CD151 [HSA:977] [KO:K06537] C H00944 Dowling-Degos disease D KRT5 [HSA:3852] [KO:K07605] C H00947 Pilomatricoma [PATH:hsa04310 hsa04510 hsa04520 hsa04530 hsa04670 hsa04916 hsa05200] D CTNNB1 [HSA:1499] [KO:K02105] C H00949 Focal dermal hypoplasia [PATH:hsa04310] D PORCN [HSA:64840] [KO:K00181] C H00980 Nevo syndrome [PATH:hsa00310] D PLOD [HSA:5351] [KO:K00473] C H01133 Reynolds syndrome D LBR [HSA:3930] C H01158 Alopecia universalis D HR [HSA:55806] C H01173 Stiff skin syndrome (SSS) D FBN1 [HSA:2200] [KO:K06825] C H01192 Lysyl hydroxylase 3 (LH3) deficiency [PATH:hsa00310 hsa00514] D PLOD3 [HSA:8985] [KO:K13646] C H00706 Bart-Pumphrey syndrome D GJB2 [HSA:2706] [KO:K07621] C H01217 Primary localized cutaneous amyloidosis (PLCA) [PATH:hsa04060 hsa04630] D (PLCA1) OSMR [HSA:9180] [KO:K05057] D (PLCA2) IL31RA [HSA:133396] # ARespiratory diseases B Lung diseases C H00818 Birt-Hogg-Dube syndrome D FLCN [HSA:201163] [KO:K09594] C H00830 Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) D FOXF1 [HSA:2294] [KO:K09399] C H00904 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities D LTBP4 [HSA:8425] [KO:K08023] C H01103 Alpha-1-antitrypsin (A1AT) deficiency [PATH:hsa04610] D SERPINA1 [HSA:5265] [KO:K03984] C H01110 Pneumothorax D FLCN [HSA:201163] [KO:K09594] C H01122 Pulmonary alveolar proteinosis (PAP) [PATH:hsa04060 hsa04630] D CSF2RA [HSA:1438] [KO:K05066] C H01298 Pulmonary alveolar microlithiasis (PALM) D SLC34A2 [HSA:10568] [KO:K14683] C H01299 Idiopathic pulmonary fibrosis D TERC [HSA:7012] D TERT [HSA:7015] [KO:K11126] D SFTPA1 [HSA:653509] [KO:K10067] D SFTPA2 [HSA:729238] [KO:K10067] D SFTPC [HSA:6440] D MUC5B [HSA:727897] [KO:K13908] B Tracheobronchial diseases C H00892 Bronchiectasis with or without elevated sweat chloride [PATH:hsa04960] D SCNN1B [HSA:6338] [KO:K04825] D SCNN1A [HSA:6337] [KO:K04824] D SCNN1G [HSA:6340] [KO:K04827] # ACongenital disorders of metabolism B Congenital disorders of carbohydrate metabolism C H00071 Hereditary fructose intolerance [PATH:hsa00010] D ALDOB; aldolase B [HSA:229] [KO:K01623] C H00114 Fructose-1,6-bisphosphatase deficiency [PATH:hsa00010] D FBP1; fructose-1,6-bisphosphatase 1 [HSA:2203] [KO:K03841] C H00072 Pyruvate dehydrogenase complex deficiency [PATH:hsa00620 hsa00010] D PDHA1; pyruvate dehydrogenase E1 component subunit alpha 1 [HSA:5160] [KO:K00161] D PDHB; pyruvate dehydrogenase E1 component subunit beta [HSA:5162] [KO:K00162] D DLAT; pyruvate dehydrogenase E2 component, dihydrolipoamide acetyltransferase [HSA:1737] [KO:K00627] D DLD; dihydrolipoamide dehydrogenase [HSA:1738] [KO:K00382] D PDHX; pyruvate dehydrogenase complex component X [HSA:8050] [KO:K13997] D PPM2C; pyruvate dehyrogenase phosphatase catalytic subunit 1 [HSA:54704] [KO:K01102] D LRPPRC; Leucine-rich PPR motif-containing protein, mitochondrial [HSA:10128] C H00073 Pyruvate carboxylase deficiency [PATH:hsa00620 hsa00020] D PC; pyruvate carboxylase [HSA:5091] [KO:K01958] C H00070 Galactosemia [PATH:hsa00052 hsa00520] D (Type 1) GALT; galactose-1P uridylyltransferase [HSA:2592] [KO:K00965] D (Type 2) GALK1; galactokinase 1 [HSA:2584] [KO:K00849] D (Type 3) GALE; UDP-galactose-4-epimerase [HSA:2582] [KO:K01784] C H00116 Congenital lactase deficiency [PATH:hsa00052] D LCT; lactase [HSA:3938] [KO:K01229] C H00069 Glycogen storage disease (GSD) [PATH:hsa00010 hsa00500 hsa04910] D (GSD Ia) G6PC; glucose-6-phosphatase [HSA:2538] [KO:K01084] D (GSD Ib/Ic) SLC37A4; glucose-6P transporter [HSA:2542] [KO:K08171] D (GSD II) GAA; alpha-glucosidase [HSA:2548] [KO:K12316] D (GSD III) AGL; amylo-1,6-glucosidase [HSA:178] [KO:K01196] D (GSD IV) GBE1; 1,4-alpha-glucan branching enzyme [HSA:2632] [KO:K00700] D (GSD V) PYGM; glycogen phosphorylase, muscle [HSA:5837] [KO:K00688] D (GSD VI) PYGL; glycogen phosphorylase, liver [HSA:5836] [KO:K00688] D (GSD VII) PFKM; phosphofructokinase, muscle [HSA:5213] [KO:K00850] D (GSD IXa) PHKA2; phosphorylase kinase alpha subunit, liver [HSA:5256] [KO:K07190] D (GSD IXb) PHKB; phosphorylase kinase beta subunit [HSA:5257] [KO:K07190] D (GSD IXc) PHKG2; phosphorylase kinase gamma subunit, liver [HSA:5261] [KO:K00871] D (GSD IXd) PHKA1; phosphorylase kinase alpha subunit, muscle [HSA:5255] [KO:K07190] D (GSD X) PGAM2; 2,3-bisphosphoglycerate-dependent phosphoglycerate mutase [HSA:5224] [KO:K01834] D (GSD XI/FBS) SLC2A2; glucose transporter [HSA:6514] [KO:K07593] D (GSD XI) LDHA; lactate dehydrogenase A [HSA:3939] [KO:K00016] D (GSD XII) ALDOA; fructose-bisphosphate aldolase A [HSA:226] [KO:K01623] D (GSD XIII) ENO3; beta-enolase [HSA:2027] [KO:K01689] D (GSD XIV) PGM1; phosphoglucomutase-1 [HSA:5236] [KO:K01835] D (GSD XV) GYG1; glycogenin-1 [HSA:2992] [KO:K00750] D (GSDH) PRKAG2; 5'-AMP-activated protein kinase subunit gamma-2 [HSA:51422] [KO:K07200] D (GSD 0a) GYS2; glycogen synthase, liver [HSA:2998] [KO:K00693] D (GSD 0b) GYS1; glycogen synthase, muscle [HSA:2997] [KO:K00693] C H00115 Congenital sucrase-isomaltase deficiency [PATH:hsa00500] D SI; sucrase-isomaltase / oligo-1,6-glucosidase [HSA:6476] [KO:K01203] C H00117 Primary hyperoxaluria [PATH:hsa00260 hsa00630] D (HP1) AGXT; alanine-glyoxylate aminotransferase [HSA:189] [KO:K00830] D (HP2) GRHPR; glyoxylate reductase/hydroxypyruvate reductase [HSA:9380] [KO:K00049] C H01071 Acute alcohol sensitivity [PATH:hsa00010] D ALDH2 [HSA:217] [KO:K00128] C H01261 Congenital glucose-galactose malabsorption (GGM) [PATH:hsa04973] D SLC5A1 [HSA:6523] [KO:K14158] B Congenital disorders of lipid/glycolipid metabolism C H00149 Neuronal ceroid lipofuscinosis [PATH:hsa00062 hsa04142] D (INCL) PPT1, CLN1; palmitoyl-protein thioesterase 1 [HSA:5538] [KO:K01074] D (LINCL) TPP1, CLN2; tripeptidyl peptidase I [HSA:1200] [KO:K01279] D (JNCL) BTS, CLN3; battenin [HSA:1201] [KO:K12389] D (LINCL) CLN5; ceroid-lipofuscinosis neuronal protein 5 [HSA:1203] [KO:K12390] D (LINCL) CLN6; ceroid-lipofuscinosis neuronal protein 6 [HSA:54982] [KO:K12359] D (LINCL) MSFD8, CLN7; MFS transporter [HSA:256471] [KO:K12307] D (LINCL) CLN8; ceroid-lipofuscinosis neuronal protein 8 [HSA:2055] [KO:K12360] D (Congenital NCL) CTSD, CLN10; cathepsin D [HSA:1509] [KO:K01379] C H00407 Peroxisomal beta-oxidation enzyme deficiency [PATH:hsa00071 hsa00120 hsa00592 hsa01040 hsa03320 hsa04146] D ACOX1; acyl-CoA oxidase 1 [HSA:51] [KO:K00232] D AMACR; alpha-methylacyl-CoA racemase [HSA:23600] [KO:K01796] D SCL2; sterol carrier protein 2 [HSA:6342] [KO:K08764] D HSD17B4; D-bifunctional protein [HSA:3295] [KO:K12405] D BAAT; bile acid-CoA:amino acid N-acyltransferase [HSA:570] [KO:K00659] C H00176 Adrenoleukodystrophy [PATH:hsa02010 hsa04146] D ABCD1 [HSA:215] [KO:K05675] C H00152 Sitosterolemia [PATH:hsa02010] D ABCG5 [HSA:64240] [KO:K05683] D ABCG8 [HSA:64241] [KO:K05684] C H00153 Familial combined hyperlipidemia D USF1 [HSA:7391] [KO:K09106] C H00151 Cerebrotendinous xanthomatosis [PATH:hsa00120 hsa03320] D CYP27A1 [HSA:1593] [KO:K00488] C H00154 Hyperlipoproteinemia, type I [PATH:hsa00561 hsa03320] D LPL; lipoprotein lipase [HSA:4023] [KO:K01059] D APOC2; apolipoprotein C-II [HSA:344] C H00155 Hypercholesterolemia [PATH:hsa04144] D LDLR [HSA:3949] [KO:K12473] D (type B) APOB [HSA:338] [KO:K14462] D (type B) PCSK9 [HSA:255738] [KO:K13050] D (ARH) LDLRAP1 [HSA:26119] [KO:K12474] C H00156 Hyperlipoproteinemia, type III D APOE; apolipoprotein E [HSA:348] [KO:K04524] C H00157 Hyperlipoproteinemia, type V [PATH:hsa03320] D APOA5; apolipoprotein A-V [HSA:116519] [KO:K09025] C H00158 Lecithin:cholesterol acyltransferase deficiency [PATH:hsa00564] D LCAT; lecithin-cholesterol acyltransferase [HSA:3931] [KO:K00650] C H00159 Tangier disease [PATH:hsa02010] D ABCA1 [HSA:19] [KO:K05641] C H00160 Abetalipoproteinemia D MTTP; microsomal triglyceride transfer protein [HSA:4547] [KO:K14463] C H00161 Smith-Lemli-Opitz syndrome [PATH:hsa00100] D DHCR7; 7-dehydrocholesterol reductase [HSA:1717] [KO:K00213] C H00162 Sjogren-Larsson syndrome [PATH:hsa00071] D ALDH3A2; aldehyde dehydrogenase [HSA:224] [KO:K00128] C H00148 Wolman disease [PATH:hsa00100 hsa04142] D LIPA; lysosomal acid lipase/cholesteryl ester hydrolase [HSA:3988] [KO:K01052] C H00134 X-linked ichthyosis [PATH:hsa00140] D STS; steryl-sulfatase [HSA:412] [KO:K01131] C H00216 Congenital adrenal hyperplasia [PATH:hsa00140] D (Type1) STAR; steroidogenic acute regulatory protein [HSA:6770] [KO:K16931] D (Type1) CYP11A; cholesterol monooxygenase [HSA:1583] [KO:K00498] D (Type2) HSD3B2; 3beta-hydroxy-delta5-steroid dehydrogenase / steroid delta-isomerase [HSA:3284] [KO:K00070] D (Type3) CYP21A2; steroid 21-monooxygenase [HSA:1589] [KO:K00513] D (Type4) CYP11B1; steroid 11beta-monooxygenase [HSA:1584] [KO:K00497] D (Type5) CYP17A1; steroid 17alpha-monooxygenase [HSA:1586] [KO:K00512] C H00125 Fabry disease [PATH:hsa00600 hsa00603 hsa04142] D GLA; alpha-galactosidase [HSA:2717] [KO:K01189] C H00126 Gaucher disease [PATH:hsa00511 hsa00600 hsa04142] D GBA; glucosylceramidase [HSA:2629] [KO:K01201] D PSAP; prosaposin [HSA:5660] [KO:K12382] C H00135 Krabbe disease [PATH:hsa00600 hsa04142] D GALC; galactosylceramidase [HSA:2581] [KO:K01202] D PSAP; prosaposin [HSA:5660] [KO:K12382] C H00137 Niemann-Pick disease [PATH:hsa00600 hsa04142] D SMPD1; sphingomyelin phosphodiesterase [HSA:6609] [KO:K12350] C H00138 Farber lipogranulomatosis [PATH:hsa00600 hsa04142] D ASAH1; acid ceramidase [HSA:427] [KO:K12348] C H00127 Metachromatic leukodystrophy [PATH:hsa00600 hsa04142] D ARSA; arylsulfatase A [HSA:410] [KO:K01134] D PSAP; saposin [HSA:5660] [KO:K12382] C H00272 Multiple sulfatase deficiency [PATH:hsa04142] D SUMF1; sulfatase modifying factor [HSA:285362] [KO:K13444] C H00281 GM1 gangliosidosis [PATH:hsa00511 hsa00531 hsa00600 hsa00604 hsa04142] D GLB1; beta-galactosidase [HSA:2720] [KO:K12309] C H00124 GM2 gangliosidoses [PATH:hsa00511 hsa00531 hsa00603 hsa00604 hsa04142] D (Type I) HEXA; beta-hexosaminidase A [HSA:3073] [KO:K12373] D (Type II) HEXB; beta-hexosaminidase B [HSA:3074] [KO:K12373] D (AB variant) GM2A; ganglioside GM2 activator [HSA:2760] [KO:K12383] C H00144 Mucolipidosis IV [PATH:hsa04142] D MCOLN1; mucolipin 1 [HSA:57192] [KO:K04992] C H00146 Alpha-N-acetylgalactosaminidase deficiency [PATH:hsa00603 hsa04142] D NAGA; alpha-N-acetylgalactosaminidase [HSA:4668] [KO:K01204] C H00206 Mevalonate kinase deficiency [PATH:hsa00900] D MVK; mevalonate kinase [HSA:4598] [KO:K00869] C H00525 Disorders of fatty-acid oxidation [PATH:hsa00071 hsa00280] D (MCADD) ACADM [HSA:34] [KO:K00249] D (SCADD) ACADS [HSA:35] [KO:K00248] D (SBCADD) ACADSB [HSA:36] [KO:K09478] D (VLCADD) ACADVL [HSA:37] [KO:K09479] D (LCHADD/TFP) HADHA [HSA:3030] [KO:K07515] D (TFP) HADHB [HSA:3032] [KO:K07509] D (CPT I) CPT1A [HSA:1374] [KO:K08765] D (CPT II) CPT2 [HSA:1376] [KO:K08766] D (CACT) SLC25A20 [HSA:788] [KO:K15109] D (CDSP) SLC22A5 [HSA:6584] [KO:K08202] C H00552 Glycerol kinase deficiency (GKD) [PATH:hsa00561 hsa03320] D (GKD) GK [HSA:2710] [KO:K00864] D (AHX) NR0B1 [HSA:190] [KO:K08562] D (DMD) DMD [HSA:1756] [KO:K10366] C H00679 Pelizaeus-Merzbacher disease D (HLD1/ PMD) PLP1 [HSA:5354] D (HLD2) GJC2 [HSA:57165] [KO:K07619] D (HLD3) AIMP1 [HSA:9255] [KO:K15437] D (HLD4) HSPD1 [HSA:3329] [KO:K04077] D (HLD5) FAM126A [HSA:84668] C H00883 Lipoid proteinosis D ECM1 [HSA:1893] C H00887 Lipoprotein glomerulopathy D APOE [HSA:348] [KO:K04524] C H00927 Chylomicron retention disease (CRD) [PATH:hsa04141] D SAR1B [HSA:51128] [KO:K07953] C H00930 Hypoalphalipoproteinemia [PATH:hsa02010 hsa03320 hsa04975 hsa04977] D ABCA1 [HSA:19] [KO:K05641] D APOA1 [HSA:335] [KO:K08757] C H01065 Pentosuria [PATH:hsa00040] D DCXR [HSA:51181] [KO:K03331] C H01101 Combined lipase deficiency (CLD) D LMF1 [HSA:64788] C H01126 Familial renal glucosuria (FRG) D SLC5A2 [HSA:6524] [KO:K14382] C H01127 Glycosylphosphatidylinositol (GPI) deficiency [PATH:hsa00563] D PIGM [HSA:93183] [KO:K05284] C H01189 Transaldolase (TALDO) deficiency [PATH:hsa00030] D TALDO1 [HSA:6888] [KO:K00616] C H01199 Hyperalphalipoproteinemia [PATH:hsa03320] D CETP [HSA:1071] [KO:K16835] D APOC3 [HSA:345] [KO:K08759] C H01290 Acute recurrent myoglobinuria [PATH:hsa00561 hsa00564] D LPIN1 [HSA:23175] [KO:K15728] C H01297 Neutral lipid storage disease with myopathy D PNPLA2 [HSA:57104] [KO:K16816] B Congenital disorders of glycan/glycoprotein metabolism C H00118 Congenital disorders of glycosylation (CDG) type I [PATH:hsa00510 hsa00051] D (CDG-Ia) PMM2; phosphomannomutase 2 [HSA:5373] [KO:K01840] D (CDG-Ib) MPI; mannose phosphate isomerase [HSA:4351] [KO:K01809] D (CDG-Ic) ALG6; a1-3 glucosyltransferase [HSA:29929] [KO:K03848] D (CDG-Id) ALG3; a1-3 mannosyltransferase [HSA:10195] [KO:K03845] D (CDG-Ie) DPM1; P-dolichol mannosyltransferase [HSA:8813] [KO:K00721] D (CDG-If) MPDU1; mannose-P-dolichol utilization defect 1 [HSA:9526] [KO:K09660] D (CDG-Ig) ALG12; a1-6 mannosyltransferase [HSA:79087] [KO:K03847] D (CDG-Ih) ALG8; a1-3 glucosyltransferase [HSA:79053] [KO:K03849] D (CDG-Ii) ALG2; a1-3/6 mannosyltransferase [HSA:85365] [KO:K03843] D (CDG-Ij) DPAGT1, ALG7; P-dolichol N-acetylglucosaminephosphotransferase [HSA:1798] [KO:K01001] D (CDG-Ik) ALG1; b1-4 mannosyltransferase [HSA:56052] [KO:K03842] D (CDG-IL) ALG9; a1-2 mannosyltransferase [HSA:79796] [KO:K03846] D (CDG-Im) DOLK; dolichol kinase [HSA:22845] [KO:K00902] D (CDG-In) RFT1; oligosaccharidyl-lipid flippase [HSA:91869] [KO:K06316] D (CDG-Io) DPM3 [HSA:54344] [KO:K09659] D (CDG-Ip) ALG11 [HSA:440138] [KO:K03844] D (CDG-Iq) SRD5A3 [HSA:79644] [KO:K12345] C H00119 Congenital disorders of glycosylation (CDG) type II [PATH:hsa00510] D (CDG-IIa) MGAT2; b1-2 N-acetylglucosaminyltransferase [HSA:4247] [KO:K00736] D (CDG-IIb) GCS1; mannosyl-oligosaccharide glucosidase [HSA:7841] [KO:K01228] D (CDG-IIc) SLC35C1; GDP-fucose transporter [HSA:55343] [KO:K15279] D (CDG-IId) B4GALT1; b1-4 galactosyltransferase [HSA:2683] [KO:K07966] D (CDG-IIe) COG7; component of oligomeric golgi complex 7 [HSA:91949] D (CDG-IIf) SLC35A1; CMP-sialic acid transporter [HSA:10559] [KO:K15272] D (CDG-IIg) COG1; component of oligomeric golgi complex 1 [HSA:9382] D (CDG-IIh) COG8; component of oligomeric golgi complex 8 [HSA:84342] D (CDG-IIi) COG5; component of oligomeric golgi complex 5 [HSA:10466] D (CDG-IIj) COG4; component of oligomeric golgi complex 4 [HSA:25839] C H00128 Mucopolysaccharidosis type I (MPS1) [PATH:hsa00531 hsa04142] D (MPS1) IDUA; alpha-L-iduronidase [HSA:3425] [KO:K01217] C H00129 Mucopolysaccharidosis type II (MPS2) [PATH:hsa00531 hsa04142] D (MPS2) IDS; iduronate 2-sulfatase [HSA:3423] [KO:K01136] C H00130 Mucopolysaccharidosis type III (MPS3) [PATH:hsa00531 hsa04142] D (MPS3A) SGSH; N-sulfoglucosamine sulfohydrolase [HSA:6448] [KO:K01565] D (MPS3B) NAGLU; alpha-N-acetylglucosaminidase [HSA:4669] [KO:K01205] D (MPS3C) HGSNAT; heparan-alpha-glucosaminide N-acetyltransferase [HSA:138050] [KO:K10532] D (MPS3D) GNS; N-acetylglucosamine-6-sulfatase [HSA:2799] [KO:K01137] C H00123 Mucopolysaccharidosis type IV (MPS4) [PATH:hsa00531 hsa04142] D (MPS4A) GALNS; N-acetylgalactosamine-6-sulfatase [HSA:2588] [KO:K01132] D (MPS4B) GLB1; beta-galactosidase [HSA:2720] [KO:K12309] C H00131 Mucopolysaccharidosis type VI (MPS6) [PATH:hsa00531 hsa04142] D (MPS6) ARSB; arylsulfatase B [HSA:411] [KO:K01135] C H00132 Mucopolysaccharidosis type VII (MPS7) [PATH:hsa00531 hsa04142] D (MPS7) GUSB; beta-glucuronidase [HSA:2990] [KO:K01195] C H00133 Mucopolysaccharidosis type IX (MPS9) [PATH:hsa00531 hsa04142] D (MPS9) HYAL1; hyaluronoglucosaminidase [HSA:3373] [KO:K01197] C H00143 Mucolipidosis II and III [PATH:hsa04142] D (ML II and ML IIIA) GNPTAB; N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits [HSA:79158] [KO:K08239] D (ML IIIC) GNPTAG; N-acetylglucosamine-1-phosphate transferase, gamma subunit [HSA:84572] [KO:K10087] C H00139 alpha-Mannosidosis [PATH:hsa00511 hsa04142] D MAN2B1; lysosomal alpha-mannosidase [HSA:4125] [KO:K12311] C H00140 beta-Mannosidosis [PATH:hsa00511 hsa04142] D MANBA; lysosomal beta-mannosidase [HSA:4126] [KO:K01192] C H00141 Fucosidosis [PATH:hsa00511 hsa04142] D FUCA1; alpha-L-fucosidase [HSA:2517] [KO:K01206] C H00142 Sialidosis [PATH:hsa00511 hsa00600 hsa04142] D NEU1; lysosomal sialidase [HSA:4758] [KO:K01186] C H00276 Galactosialidosis [PATH:hsa04142 hsa00600] D CTSA; cathepsin A [HSA:5476] [KO:K13289] D GLB1; beta-galactosidase [HSA:2720] [KO:K12309] D NEU1; lysosomal sialidase [HSA:4758] [KO:K01186] C H00145 Aspartylglucosaminuria [PATH:hsa00511 hsa04142] D AGA; aspartylglucosaminidase [HSA:175] [KO:K01444] C H00120 Dystroglycanopathy [PATH:hsa00514] D POMT1; protein-O-mannosyltransferase 1 [HSA:10585] [KO:K00728] D POMT2; protein-O-mannosyltransferase 2 [HSA:29954] [KO:K00728] D POMGNT1; protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase [HSA:55624] [KO:K09666] D FKTN; fukutin [HSA:2218] D FKRP; fukutin related protein [HSA:79147] D LARGE [HSA:9215] [KO:K09668] C H00121 Ehlers-Danlos syndrome, progeroid form C H00122 Multiple exostoses [PATH:hsa00534] D EXT1; glucuronyl/N-acetylglucosaminyl transferase EXT1 [HSA:2131] [KO:K02366] D EXT2; glucuronyl/N-acetylglucosaminyl transferase EXT2 [HSA:2132] [KO:K02367] C H00147 Sialuria [PATH:hsa04142 hsa00520] D (SD, ISSD) SLC17A5; sodium/sialic acid cotransporter [HSA:26503] [KO:K12301] D (French type) GNE; UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase [HSA:10020] [KO:K12409] C H00692 Lowe syndrome [PATH:hsa00562 hsa04070] D OCRL1 [HSA:4952] [KO:K01099] C H01188 Tn syndrome [PATH:hsa00512] D COSMC [HSA:29071] [KO:K09653] B Congenital disorders of amino acid metabolism C H00167 Phenylketonuria [PATH:hsa00400 hsa00790] D PAH; phenylalanine hydroxylase [HSA:5053] [KO:K00500] D (BH4-deficient, A) QDPR; quinoid dihydropteridine reductase [HSA:5860] [KO:K00357] D (BH4-deficient, B) GCH1; GTP cyclohydrolase 1 [HSA:2643] [KO:K01495] D (BH4-deficient, C) PTS; 6-pyruvoyltetrahydropterin synthase [HSA:5805] [KO:K01737] D (BH4-deficient, D) PCBD1; pterin-4 alpha-carbinolamine dehydratase [HSA:5092] [KO:K01724] C H00165 Tyrosinemia [PATH:hsa00350 hsa00360] D (Type I) FAH; fumarylacetoacetate hydrolase [HSA:2184] [KO:K01555] D (Type II) TAT; tyrosine aminotransferase [HSA:6898] [KO:K00815] D (Type III) HPD; 4-hydroxyphenylpyruvate dioxygenase [HSA:3242] [KO:K00457] C H00163 Alkaptonuria [PATH:hsa00350] D HGD; homogentisate 1,2-dioxygenase [HSA:3081] [KO:K00451] C H00166 Hermansky-Pudlak syndrome [PATH:hsa04142] D (HPS1) HPS1 [HSA:3257] D (HPS2) AP3B1 [HSA:8546] [KO:K12397] D (HPS3) HPS3 [HSA:84343] D (HPS4) HPS4 [HSA:89781] D (HPS5) HPS5 [HSA:11234] D (HPS6) HPS6 [HSA:79803] D (HPS7) DTNBP1 [HSA:84062] D (HPS8) BLOC1S3 [HSA:388552] C H00168 Oculocutaneous albinism [PATH:hsa00350 hsa04916] D (OCA1) TYR; tyrosinase [HSA:7299] [KO:K00505] D (OCA2) OCA2 [HSA:4948] D (OCA3) TYRP1; tyrosinase-related protein 1 [HSA:7306] [KO:K00506] D (OCA4) SLC45A2 [HSA:51151] [KO:K15378] C H00169 Ocular albinism [PATH:hsa04916] D (OA1) GPR143 [HSA:4935] [KO:K08470] D (WS2-OA) MITF [HSA:4286] [KO:K09455] C H00170 Piebaldism [PATH:hsa04916 hsa04520] D KIT [HSA:3815] [KO:K05091] D SNAI2 [HSA:6591] [KO:K05706] C H00171 Histidinemia [PATH:hsa00340] D HAL; histidine ammonia-lyase [HSA:3034] [KO:K01745] C H00172 Maple syrup urine disease [PATH:hsa00280] D BCKDHA; branched chain keto acid dehydrogenase E1, alpha subunit [HSA:593] [KO:K00166] D BCKDHB; branched chain keto acid dehydrogenase E1, beta subunit [HSA:594] [KO:K00167] D DBT; dihydrolipoamide branched chain transacylase E2 [HSA:1629] [KO:K09699] D DLD; dihydrolipoamide dehydrogenase [HSA:1738] [KO:K00382] C H00173 Isovaleric acidemia [PATH:hsa00280] D IVD; isovaleryl-CoA dehydrogenase [HSA:3712] [KO:K00253] C H00181 3-methylcrotonylglycinuria [PATH:hsa00280] D MCCC1; 3-methylcrotonyl-CoA carboxylase alpha subunit [HSA:56922] [KO:K01968] D MCCC2; 3-methylcrotonyl-CoA carboxylase beta subunit [HSA:64087] [KO:K01969] C H00175 Propionic acidemia [PATH:hsa00280 hsa00640] D PCCA; propionyl-CoA carboxylase alpha chain [HSA:5095] [KO:K01965] D PCCB; propionyl-CoA carboxylase beta chain [HSA:5096] [KO:K01966] C H00174 Methylmalonic aciduria [PATH:hsa00280 sa00630 hsa00640] D MUT; methylmalonyl-CoA mutase [HSA:4594] [KO:K01847] D MMAA [HSA:166785] [KO:K07588] D MMAB [HSA:326625] [KO:K00798] D LMBRD1 [HSA:55788] [KO:K14617] D MMACHC [HSA:25974] [KO:K14618] D MMADHC [HSA:27249] D MCEE [HSA:84693] [KO:K05606] C H00179 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency [PATH:hsa00280 hsa00650] D HMGCL; hydroxymethylglutaryl-CoA lyase [HSA:3155] [KO:K01640] C H00275 Cystinosis [PATH:hsa04142] D CTNS; cystinosin [HSA:1497] [KO:K12386] C H00182 Cystathioninuria [PATH:hsa00260 hsa00270] D CTH; cystathionine gamma-lyase [HSA:1491] [KO:K01758] C H00183 Homocystinuria [PATH:hsa00260 hsa00270 hsa00450 hsa00670] D CBS; cystathionine beta-synthase [HSA:875] [KO:K01697] D MTRR [HSA:4552] [KO:K00597] D MTHFR [HSA:4524] [KO:K00297] C H00184 Hypermethioninemia [PATH:hsa00270 hsa00450 hsa00260] D MAT1A [HSA:4143] [KO:K00789] D AHCY [HSA:191] [KO:K01251] D GNMT [HSA:27232] [KO:K00552] C H00164 Carbamoyl phosphate synthetase I deficiency [PATH:hsa00330] D CPS1; carbamoyl-phosphate synthase [HSA:1373] [KO:K01948] C H00185 Citrullinemia [PATH:hsa00330 hsa00250] D (CTLN1) ASS1; argininosuccinate synthetase 1 [HSA:445] [KO:K01940] D (CTLN2) SLC25A13 [HSA:10165] [KO:K15105] C H00186 Hyperargininemia [PATH:hsa00330] D ARG1; arginase [HSA:383] [KO:K01476] C H00178 Glutaric acidemia [PATH:hsa00071 hsa00380 hsa00310] D (GA1) GCDH; glutaryl-CoA dehydrogenase [HSA:2639] [KO:K00252] D (GA2) ETFA; electron transfer flavoprotein alpha subunit [HSA:2108] [KO:K03522] D (GA2) ETFB; electron transfer flavoprotein beta subunit [HSA:2109] [KO:K03521] D (GA2) ETFDH; electron-transferring-flavoprotein dehydrogenase [HSA:2110] [KO:K00311] C H00188 Hyperlysinemia [PATH:hsa00300 hsa00310] D AASS; aminoadipate-semialdehyde synthase [HSA:10157] [KO:K14157] C H00187 Ornithine transcarbamylase deficiency [PATH:hsa00330] D OTC; ornithine carbamoyltransferase [HSA:5009] [KO:K00611] C H00189 Ornithinaemia [PATH:hsa00330] D OAT; ornithine aminotransferase [HSA:4942] [KO:K00819] C H00190 Hyperprolinemia [PATH:hsa00330] D (HP1) PRODH; proline dehydrogenase [HSA:5625] [KO:K00318] D (HP2) ALDH4A1; 1-pyrroline-5-carboxylate dehydrogenase [HSA:8659] [KO:K00294] C H00191 Nonketotic hyperglycinemia [PATH:hsa00260] D GLDC; glycine dehydrogenase [HSA:2731] [KO:K00281] D AMT; aminomethyltransferase [HSA:275] [KO:K00605] D GCSH [HSA:2653] [KO:K02437] C H00074 Canavan disease [PATH:hsa00250] D ASPA; aspartoacylase [HSA:443] [KO:K01437] C H00548 Brunner syndrome [PATH:hsa00340 hsa00350 hsa00380 hsa04728] D MAOA [HSA:4128] [KO:K00274] C H00754 3-Methylglutaconic aciduria (MGCA) [PATH:hsa00280] D (Type 1) AUH [HSA:549] [KO:K05607] D (Type 2) TAZ [HSA:6901] [KO:K13511] D (Type 3) OPA3 [HSA:80207] D (Type 5) DNAJC19 [HSA:131118] [KO:K09539] C H00834 Guanidinoacetate methyltransferase (GAMT) deficiency [PATH:hsa00260 hsa00330] D GAMT [HSA:2593] [KO:K00542] C H00835 Succinic semialdehyde dehydrogenase (SSADH) deficiency [PATH:hsa00250 hsa00650] D ALDH5A1 [HSA:7915] [KO:K00139] C H00849 Creatine deficiency syndrome [PATH:hsa00260 hsa00330] D (XL-CDS) SLC6A8 [HSA:6535] [KO:K05039] D (AGAT deficiency) GATM [HSA:2628] [KO:K00613] D (GAMT deficiency) GAMT [HSA:2593] [KO:K00542] C H00899 Lysinuric protein intolerance (LPI) [PATH:hsa04974] D SLC7A7 [HSA:9056] [KO:K13867] C H00901 Cystinuria [PATH:hsa04974] D SLC3A1 [HSA:6519] [KO:K14210] D SLC7A9 [HSA:11136] [KO:K13868] C H00905 Iminoglycinuria [PATH:hsa04974 hsa04978] D SLC36A2 [HSA:153201] [KO:K14209] D SLC6A19 [HSA:340024] [KO:K05334] D SLC6A20 [HSA:54716] [KO:K05048] C H00911 Dicarboxylic aminoaciduria [PATH:hsa04974 hsa04724] D SLC1A1 [HSA:6505] [KO:K05612] C H00923 Congenital systemic glutamine deficiency (CSGD) [PATH:hsa00250 hsa00330 hsa00910 hsa04724 hsa04727] D GLUL [HSA:2752] [KO:K01915] C H00925 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency [PATH:hsa00280] D HSD17B10 [HSA:3028] [KO:K08683] C H01003 Dimethylglycine dehydrogenase deficiency (DMGDHD) [PATH:hsa00260] D (DMGDHD) DMGDH [HSA:29958] [KO:K00315] C H01028 Argininosuccinic aciduria (ARGINSA) [PATH:hsa00250 hsa00330] D ASL [HSA:435] [KO:K01755] C H01032 N-acetylglutamate synthase (NAGS) deficiency [PATH:hsa00330] D NAGS [HSA:162417] [KO:K11067] C H01079 3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency [PATH:hsa00260] D PHGDH [HSA:26227] [KO:K00058] C H01082 Phosphoserine aminotransferase (PSAT) deficiency [PATH:hsa00260 hsa00750] D PSAT1 [HSA:29968] [KO:K00831] C H01076 Alpha-methylacetoacetic aciduria [PATH:hsa00280 hsa00072] D ACAT1 [HSA:38] [KO:K00626] C H01119 Prolidase deficiency (PD) D PEPD [HSA:5184] [KO:K14213] C H01121 Succinyl CoA:3-oxoacid CoA transferase (SCOT) deficiency [PATH:hsa00072 hsa00280 hsa00650] D OXCT1 [HSA:5019] [KO:K01027] C H01123 HMG-CoA synthase (HMGCS) deficiency [PATH:hsa00072 hsa00280 hsa00650 hsa00900] D HMGCS2 [HSA:3158] [KO:K01641] C H01187 Tietz syndrome [PATH:hsa04380 hsa04916] D MITF [HSA:4286] [KO:K09455] C H01225 D-2-hydroxyglutaric aciduria (D-2-HGA) [PATH:hsa00020 hsa00480] D D2HGDH [HSA:728294] D IDH2 [HSA:3418] [KO:K00031] C H01233 Urocanase deficiency [PATH:hsa00340] D UROC1 [HSA:131669] [KO:K01712] C H01237 Sulfite oxidase deficiency [PATH:hsa00920] D SUOX [HSA:6821] [KO:K00387] C H01242 Saccharopinuria [PATH:hsa00310] D AASS [HSA:10157] [KO:K14157] C H01257 GABA-transaminase deficiency [PATH:hsa00250] D ABAT [HSA:18] [KO:K13524] C H01262 Formiminotransferase deficiency [PATH:hsa00340 hsa00670] D FTCD [HSA:10841] [KO:K13990] C H01279 Isobutyryl-CoA dehydrogenase (IBD) deficiency [PATH:hsa00280] D ACAD8 [HSA:27034] [KO:K11538] C H01280 L-2-hydroxyglutaric aciduria (L2HGA) [PATH:hsa00650] D L2HGDH [HSA:79944] [KO:K00109] C H01283 Malonyl-CoA decarboxylase deficiency [PATH:hsa00410 hsa00640 hsa04146] D MLYCD [HSA:23417] [KO:K01578] C H01285 Methylcobalamin deficiency type G (cblG) [PATH:hsa00270 hsa00450 hsa00670] D MTR [HSA:4548] [KO:K00548] B Congenital disorders of nucleotide metabolism C H00194 Lesch-Nyhan syndrome [PATH:hsa00230] D HPRT1; hypoxanthine phosphoribosyltransferase [HSA:3251] [KO:K00760] C H00195 Adenine phosphoribosyltransferase deficiency [PATH:hsa00230] D APRT; adenine phosphoribosyltransferase [HSA:353] [KO:K00759] C H00197 Adenylosuccinate lyase deficiency [PATH:hsa00230 hsa00250] D ADSL; adenylosuccinate lyase [HSA:158] [KO:K01756] C H00192 Xanthinuria [PATH:hsa00230 hsa04122] D XDH; xanthine dehydrogenase [HSA:7498] [KO:K00106] D AOX1 [HSA:316] [KO:K00157] D MOCS1 [HSA:4337] [KO:K03639] D MOCS2 [HSA:4338] [KO:K03635] D GEPH [HSA:10243] [KO:K15376] C H00196 Phosphoribosylpyrophosphate synthetase I superactivity [PATH:hsa00030 hsa00230] D PRPS1; phosphoribosylpyrophosphate synthetase [HSA:5631] [KO:K00948] C H00198 Orotic aciduria [PATH:hsa00240] D UMPS; uridine monophosphate synthetase [HSA:7372] [KO:K13421] C H00193 Dihydropyrimidine dehydrogenase deficiency [PATH:hsa00240 hsa00983] D DPYD; dihydropyrimidine dehydrogenase [HSA:1806] [KO:K00207] C H00199 Dihydropyrimidinase deficiency [PATH:hsa00240 hsa00983] D DPYS; dihydropyrimidinase [HSA:1807] [KO:K01464] C H00200 Beta-ureidopropionase deficiency [PATH:hsa00240 hsa00983] D UPB1; beta-ureidopropionase [HSA:51733] [KO:K01431] C H00964 Thiopurine S-methyltransferase deficiency (TPMT deficiency) [PATH:hsa00983] D TPMT [HSA:7172] [KO:K00569] C H00966 AICA-ribosiduria [PATH:hsa00230 hsa00670] D ATIC [HSA:471] [KO:K00602] C H01135 Ribose 5-phosphate isomerase (RPI) deficiency [PATH:hsa00030] D RPIA [HSA:22934] [KO:K01807] B Congenital disorders of cofactor/vitamin metabolism C H00180 Holocarboxylase synthetase deficiency [PATH:hsa00780] D HLCS; holocarboxylase synthetase [HSA:3141] [KO:K01942] C H00201 Erythropoietic porphyria [PATH:hsa00860] D (EPP) FECH; ferrochelatase [HSA:2235] [KO:K01772] D (CEP) UROS; uroporphyrinogen-III synthase [HSA:7390] [KO:K01719] D (XLEPP) ALAS2 [HSA:51218] [KO:K07390] C H00202 Hepatic porphyria [PATH:hsa00860] D (PCT) UROD; uroporphyrinogen decarboxylase [HSA:7389] [KO:K01599] D (AIP) HMBS; hydroxymethylbilane synthase [HSA:3145] [KO:K01749] D (VP) PPOX; protoporphyrinogen oxidase [HSA:5498] [KO:K00231] D (ALADP) ALAD; porphobilinogen synthase [HSA:210] [KO:K01698] D (HCP) CPOX; coproporphyrinogen III oxidase [HSA:1371] [KO:K00228] C H00208 Hyperbilirubinemia [PATH:hsa00860 hsa02010 hsa04976] D UGT1A1; UDP glucuronosyltransferase [HSA:54658] [KO:K00699] D (DJS) ABCC2 [HSA:1244] [KO:K05666] C H00213 Hypophosphatasia [PATH:hsa00790] D ALPL; alkaline phosphatase [HSA:249] [KO:K01077] C H00981 Ataxia with isolated vitamin E deficiency (AVED) D TTPA [HSA:7274] C H01143 Vitamin D-dependent rickets [PATH:hsa00100 hsa04961 hsa04978] D (VDDR1A) CYP27B1 [HSA:1594] [KO:K07438] D (VDDR1B) CYP2R1 [HSA:120227] [KO:K07419] D (VDDR2A) VDR [HSA:7421] [KO:K08539] C H01197 Dihydrofolate reductase (DHFR) deficiency [PATH:hsa00670 hsa00790] D DHFR [HSA:1719] [KO:K00287] C H01182 Biotinidase deficiency [PATH:hsa00780 hsa04977] D BTD [HSA:686] [KO:K01435] B Congenital disorders of ion transport and metabolism C H00218 Cystic fibrosis [PATH:hsa02010] D CFTR [HSA:1080] [KO:K05031] C H00209 Menkes disease D ATP7A; Cu2+-exporting ATPase [HSA:538] [KO:K01533] C H00210 Wilson disease D ATP7B; Cu2+-exporting ATPase [HSA:540] [KO:K01533] C H00212 Acrodermatitis enteropathica D SLC39A4 [HSA:55630] [KO:K14710] C H00211 Hemochromatosis D (HFE) HFE [HSA:3077] D (JH) HFE2 [HSA:148738] [KO:K06847] D (JH) HAMP [HSA:57817] D (HFE3) TFR2 [HSA:7036] D (HFE4) SLC40A1 [HSA:30061] [KO:K14685] C H00217 Pulmonary surfactant metabolism dysfunction [PATH:hsa02010] D (SMDP1) SFTPB [HSA:6439] D (SMDP2) SFTPC [HSA:6440] D (SMDP3) ABCA3 [HSA:21] [KO:K05643] C H00214 Hypophosphatemic rickets D (XLH) PHEX; phosphate-regulating neutral endopeptidase [HSA:5251] [KO:K08636] D (XLRH) CLCN5; chloride channel [HSA:1184] [KO:K05012] D (ADHR) FGF23; fibroblast growth factor 23 [HSA:8074] [KO:K04358] D (ARHR1) DMP1; dentin matrix acidic phosphoprotein 1 [HSA:1758] D (ARHR2) ENPP1; ectonucleotide pyrophosphatase/phosphodiesterase 1 [HSA:5167] [KO:K01513] D (HHRH) SLC34A3; sodium phosphate transporter [HSA:142680] [KO:K14683] C H00745 Hyperkalemic periodic paralysis (HyperPP) D SCN4A [HSA:6329] [KO:K04837] C H00746 Hypokalemic periodic paralysis (HypoPP) [PATH:hsa04010 hsa04020 hsa04260 hsa04270 hsa04725 hsa04727 hsa04912] D (HypoPP1) CACNA1S [HSA:779] [KO:K04857] D (HypoPP2) SCN4A [HSA:6329] [KO:K04837] C H00747 Thyrotoxic hypokalemic periodic paralysis (TPP) D KCNJ18 [HSA:100134444] C H00748 Andersen-Tawil syndrome (ATS) [PATH:hsa04725] D KCNJ2 [HSA:3759] [KO:K04996] C H00836 GLUT1 deficiency syndrome (GLUT1DS) [PATH:hsa04976 hsa04920] D GLUT1 [HSA:6513] [KO:K07299] C H01190 Transcobalamin II deficiency [PATH:hsa04977] D TCN2 [HSA:6948] [KO:K14619] C H01302 Hyperchlorhidrosis isolated (HCHLH) D CA12 [HSA:771] [KO:K01672] B Congenital disorders of DNA repair systems C H00296 Defects in RecQ helicases [PATH:hsa03440] D BLM; Bloom syndrome, RecQ helicase-like [HSA:641] [KO:K10901] D WRN; Werner syndrome, RecQ helicase-like [HSA:7486] [KO:K10900] D RECQL4; RecQ protein-like 4 [HSA:9401] [KO:K10730] C H00403 Disorders of nucleotide excision repair [PATH:hsa03420] D (XPA) XPA; xeroderma pigmentosum, complementation group A [HSA:7507] [KO:K10847] D (XPB, XP/CS, TTD) ERCC3; DNA excision repair protein ERCC-3 [HSA:2071] [KO:K10843] D (XPC) XPC; xeroderma pigmentosum, complementation group C [HSA:7508] [KO:K10838] D (XPD, XP/CS, TTD) ERCC2; DNA excision repair protein ERCC-2 [HSA:2068] [KO:K10844] D (XPE) DDB2; damage-specific DNA binding protein 2 [HSA:1643] [KO:K10140] D (XPE-2) DDB1; damage-specific DNA binding protein 1 [HSA:1642] [KO:K10610] D (XPF) ERCC4; DNA excision repair protein ERCC-4 [HSA:2072] [KO:K10848] D (XPG, XP/CS, COFS3) ERCC5; DNA excision repair protein ERCC-5 [HSA:2073] [KO:K10846] D (XPV) POLH; DNA polymerase eta [HSA:5429] [KO:K03509] D (CSA) ERCC8; DNA excision repair protein ERCC-8 [HSA:1161] [KO:K10570] D (CSB, DSC, UVS, COFS1) ERCC6; DNA excision repair protein ERCC-6 [HSA:2074] [KO:K10841] D (TTD) GTF2H5; general transcription factor IIH, polypeptide 5 [HSA:404672] [KO:K10845] D (COFS4) ERCC1; DNA excision repair protein ERCC-1 [HSA:2067] [KO:K10849] C H00876 Mismatch repair deficiency [PATH:hsa03430 hsa05210 hsa05213] D MSH2 [HSA:4436] [KO:K08735] D MSH6 [HSA:2956] [KO:K08737] D MLH1 [HSA:4292] [KO:K08734] D MLH3 [HSA:27030] [KO:K08739] D PMS2 [HSA:5395] [KO:K10858] D EPCAM [HSA:4072] [KO:K06737] C H00881 Li-Fraumeni syndrome [PATH:hsa04010 hsa04110 hsa04115 hsa04210 hsa04310 hsa05200] D TP53 [HSA:7157] [KO:K04451] D CHEK2 [HSA:11200] [KO:K06641] C H00962 RIDDLE syndrome D RNF168 [HSA:165918] B Lysosomal storage diseases C H00274 Papillon-Lefevre syndrome [PATH:hsa04142] D CTSC; cathepsin C [HSA:1075] [KO:K01275] C H00149 Neuronal ceroid lipofuscinosis [PATH:hsa00062 hsa04142] D (INCL) PPT1, CLN1; palmitoyl-protein thioesterase 1 [HSA:5538] [KO:K01074] D (LINCL) TPP1, CLN2; tripeptidyl peptidase I [HSA:1200] [KO:K01279] D (JNCL) BTS, CLN3; battenin [HSA:1201] [KO:K12389] D (LINCL) CLN5; ceroid-lipofuscinosis neuronal protein 5 [HSA:1203] [KO:K12390] D (LINCL) CLN6; ceroid-lipofuscinosis neuronal protein 6 [HSA:54982] [KO:K12359] D (LINCL) MSFD8, CLN7; MFS transporter [HSA:256471] [KO:K12307] D (LINCL) CLN8; ceroid-lipofuscinosis neuronal protein 8 [HSA:2055] [KO:K12360] D (Congenital NCL) CTSD, CLN10; cathepsin D [HSA:1509] [KO:K01379] C H00273 Pycnodysostosis [PATH:hsa04142 hsa04620] D CTSK; cathepsin K [HSA:1513] [KO:K01371] C H00125 Fabry disease [PATH:hsa00600 hsa00603 hsa04142] D GLA; alpha-galactosidase [HSA:2717] [KO:K01189] C H00281 GM1 gangliosidosis [PATH:hsa00511 hsa00531 hsa00600 hsa00604 hsa04142] D GLB1; beta-galactosidase [HSA:2720] [KO:K12309] C H00126 Gaucher disease [PATH:hsa00511 hsa00600 hsa04142] D GBA; glucosylceramidase [HSA:2629] [KO:K01201] D PSAP; prosaposin [HSA:5660] [KO:K12382] C H00128 Mucopolysaccharidosis type I (MPS1) [PATH:hsa00531 hsa04142] D (MPS1) IDUA; alpha-L-iduronidase [HSA:3425] [KO:K01217] C H00146 Alpha-N-acetylgalactosaminidase deficiency [PATH:hsa00603 hsa04142] D NAGA; alpha-N-acetylgalactosaminidase [HSA:4668] [KO:K01204] C H00130 Mucopolysaccharidosis type III (MPS3) [PATH:hsa00531 hsa04142] D (MPS3A) SGSH; N-sulfoglucosamine sulfohydrolase [HSA:6448] [KO:K01565] D (MPS3B) NAGLU; alpha-N-acetylglucosaminidase [HSA:4669] [KO:K01205] D (MPS3C) HGSNAT; heparan-alpha-glucosaminide N-acetyltransferase [HSA:138050] [KO:K10532] D (MPS3D) GNS; N-acetylglucosamine-6-sulfatase [HSA:2799] [KO:K01137] C H00144 Mucolipidosis IV [PATH:hsa04142] D MCOLN1; mucolipin 1 [HSA:57192] [KO:K04992] C H00135 Krabbe disease [PATH:hsa00600 hsa04142] D GALC; galactosylceramidase [HSA:2581] [KO:K01202] D PSAP; prosaposin [HSA:5660] [KO:K12382] C H00132 Mucopolysaccharidosis type VII (MPS7) [PATH:hsa00531 hsa04142] D (MPS7) GUSB; beta-glucuronidase [HSA:2990] [KO:K01195] C H00141 Fucosidosis [PATH:hsa00511 hsa04142] D FUCA1; alpha-L-fucosidase [HSA:2517] [KO:K01206] C H00124 GM2 gangliosidoses [PATH:hsa00511 hsa00531 hsa00603 hsa00604 hsa04142] D (Type I) HEXA; beta-hexosaminidase A [HSA:3073] [KO:K12373] D (Type II) HEXB; beta-hexosaminidase B [HSA:3074] [KO:K12373] D (AB variant) GM2A; ganglioside GM2 activator [HSA:2760] [KO:K12383] C H00140 beta-Mannosidosis [PATH:hsa00511 hsa04142] D MANBA; lysosomal beta-mannosidase [HSA:4126] [KO:K01192] C H00139 alpha-Mannosidosis [PATH:hsa00511 hsa04142] D MAN2B1; lysosomal alpha-mannosidase [HSA:4125] [KO:K12311] C H00142 Sialidosis [PATH:hsa00511 hsa00600 hsa04142] D NEU1; lysosomal sialidase [HSA:4758] [KO:K01186] C H00276 Galactosialidosis [PATH:hsa04142 hsa00600] D CTSA; cathepsin A [HSA:5476] [KO:K13289] D GLB1; beta-galactosidase [HSA:2720] [KO:K12309] D NEU1; lysosomal sialidase [HSA:4758] [KO:K01186] C H00133 Mucopolysaccharidosis type IX (MPS9) [PATH:hsa00531 hsa04142] D (MPS9) HYAL1; hyaluronoglucosaminidase [HSA:3373] [KO:K01197] C H00127 Metachromatic leukodystrophy [PATH:hsa00600 hsa04142] D ARSA; arylsulfatase A [HSA:410] [KO:K01134] D PSAP; saposin [HSA:5660] [KO:K12382] C H00131 Mucopolysaccharidosis type VI (MPS6) [PATH:hsa00531 hsa04142] D (MPS6) ARSB; arylsulfatase B [HSA:411] [KO:K01135] C H00123 Mucopolysaccharidosis type IV (MPS4) [PATH:hsa00531 hsa04142] D (MPS4A) GALNS; N-acetylgalactosamine-6-sulfatase [HSA:2588] [KO:K01132] D (MPS4B) GLB1; beta-galactosidase [HSA:2720] [KO:K12309] C H00129 Mucopolysaccharidosis type II (MPS2) [PATH:hsa00531 hsa04142] D (MPS2) IDS; iduronate 2-sulfatase [HSA:3423] [KO:K01136] C H00148 Wolman disease [PATH:hsa00100 hsa04142] D LIPA; lysosomal acid lipase/cholesteryl ester hydrolase [HSA:3988] [KO:K01052] C H00137 Niemann-Pick disease [PATH:hsa00600 hsa04142] D SMPD1; sphingomyelin phosphodiesterase [HSA:6609] [KO:K12350] C H00138 Farber lipogranulomatosis [PATH:hsa00600 hsa04142] D ASAH1; acid ceramidase [HSA:427] [KO:K12348] C H00145 Aspartylglucosaminuria [PATH:hsa00511 hsa04142] D AGA; aspartylglucosaminidase [HSA:175] [KO:K01444] C H00150 Danon disease [PATH:hsa04142] D LAMP2; lysosomal-associated membrane protein 2 [HSA:3920] [KO:K06528] C H00136 Niemann-Pick type C disease [PATH:hsa04142] D (NPC1/ D) NPC1; Niemann-Pick disease, type C1 [HSA:4864] [KO:K12385] D (NPC2) NPC2 [HSA:10577] [KO:K13443] C H00275 Cystinosis [PATH:hsa04142] D CTNS; cystinosin [HSA:1497] [KO:K12386] C H00147 Sialuria [PATH:hsa04142 hsa00520] D (SD, ISSD) SLC17A5; sodium/sialic acid cotransporter [HSA:26503] [KO:K12301] D (French type) GNE; UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase [HSA:10020] [KO:K12409] C H00143 Mucolipidosis II and III [PATH:hsa04142] D (ML II and ML IIIA) GNPTAB; N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits [HSA:79158] [KO:K08239] D (ML IIIC) GNPTAG; N-acetylglucosamine-1-phosphate transferase, gamma subunit [HSA:84572] [KO:K10087] C H01113 Acid phosphatase deficiency [PATH:hsa00740 hsa04142] D ACP2 [HSA:53] [KO:K14410] C H01239 Combined SAP deficiency [PATH:hsa04142] D PSAP [HSA:5660] [KO:K12382] B Peroxisomal diseases C H00205 Zellweger syndrome spectrum [PATH:hsa04146] D PEX1; peroxisomal biogenesis factor 1 [HSA:5189] [KO:K13338] D PEX2; peroxisomal biogenesis factor 2 [HSA:5828] [KO:K06664] D PEX3; peroxisomal biogenesis factor 3 [HSA:8504] [KO:K13336] D PEX5; peroxisomal biogenesis factor 5 [HSA:5830] [KO:K13342] D PEX6; peroxisomal biogenesis factor 6 [HSA:5190] [KO:K13339] D PEX10; peroxisomal biogenesis factor 10 [HSA:5192] [KO:K13346] D PEX12; peroxisomal biogenesis factor 12 [HSA:5193] [KO:K13345] D PEX13; peroxisomal biogenesis factor 13 [HSA:5194] [KO:K13344] D PEX14; peroxisomal biogenesis factor 14 [HSA:5195] [KO:K13343] D PEX16; peroxisomal biogenesis factor 16 [HSA:9409] [KO:K13335] D PEX19; peroxisomal biogenesis factor 19 [HSA:5824] [KO:K13337] D PEX26; peroxisomal biogenesis factor 26 [HSA:55670] [KO:K13340] C H00075 Refsum disease [PATH:hsa04146] D PHYH; phytanoyl-CoA 2-hydroxylase [HSA:5264] [KO:K00477] D PEX7; peroxisomal biogenesis factor 7 [HSA:5191] [KO:K13341] C H00207 Rhizomelic chondrodysplasia punctata [PATH:hsa00564 hsa00565 hsa04146] D (RCDP1) PEX7; peroxisomal biogenesis factor 7 [HSA:5191] [KO:K13341] D (RCDP2) GNPAT; glyceronephosphate O-acyltransferase [HSA:8443] [KO:K00649] D (RCDP3) AGPS; alkyldihydroxyacetonephosphate synthase [HSA:8540] [KO:K00803] C H00407 Peroxisomal beta-oxidation enzyme deficiency [PATH:hsa00071 hsa00120 hsa00592 hsa01040 hsa03320 hsa04146] D ACOX1; acyl-CoA oxidase 1 [HSA:51] [KO:K00232] D AMACR; alpha-methylacyl-CoA racemase [HSA:23600] [KO:K01796] D SCL2; sterol carrier protein 2 [HSA:6342] [KO:K08764] D HSD17B4; D-bifunctional protein [HSA:3295] [KO:K12405] D BAAT; bile acid-CoA:amino acid N-acyltransferase [HSA:570] [KO:K00659] C H00176 Adrenoleukodystrophy [PATH:hsa02010 hsa04146] D ABCD1 [HSA:215] [KO:K05675] C H00203 Acatalasia [PATH:hsa00380 hsa00680 hsa04146] D CAT; catalase [HSA:847] [KO:K03781] B Other congenital disorders of metabolism C H00417 Alstrom syndrome D ALMS1 [HSA:7840] [KO:K16741] C H00418 Bardet-Biedl syndrome D (BBS1) BBS1 [HSA:582] [KO:K16746] D (BBS2) BBS2 [HSA:583] [KO:K16747] D (BBS3) ARL6 [HSA:84100] [KO:K07951] D (BBS4) BBS4 [HSA:585] [KO:K16531] D (BBS5) BBS5 [HSA:129880] [KO:K16748] D (BBS6) MKKS [HSA:8195] [KO:K09492] D (BBS7) BBS7 [HSA:55212] [KO:K16749] D (BBS8) TTC8 [HSA:123016] [KO:K16781] D (BBS9) BBS9 [HSA:27241] D (BBS10) BBS10 [HSA:79738] D (BBS11) TRIM32 [HSA:22954] [KO:K10607] D (BBS12) BBS12 [HSA:166379] D (BBS13) MKS1 [HSA:54903] D (BBS14) CEP290 [HSA:80184] [KO:K16533] C H00419 Congenital generalized lipodystrophy D (CGL1) AGPAT2 [HSA:10555] [KO:K13509] D (CGL2) BSCL2 [HSA:26580] D (CGL3) CAV1 [HSA:857] [KO:K06278] D (CGL4) PTRF [HSA:284119] C H00469 Mitochondrial DNA depletion syndrome (MDS) [PATH:hsa00240 hsa00230 hsa00020] D (MTDPS1) TYMP [HSA:1890] [KO:K00758] D (MTDPS2) TK2 [HSA:7084] [KO:K00857] D (MTDPS3) DGUOK [HSA:1716] [KO:K00904] D (MTDPS4A/4B) POLG [HSA:5428] [KO:K02332] D (MTDPS5) SUCLA2 [HSA:8803] [KO:K01900] D (MTDPS6) MPV17 [HSA:4358] [KO:K13348] D (MTDPS7) PEO1 [HSA:56652] D (MTDPS8A/8B) RRM2B [HSA:50484] [KO:K10808] D (MTDPS9) SUCLG1 [HSA:8802] [KO:K01899] C H00473 Mitochondrial respiratory chain deficiencies (MRCD) [PATH:hsa00190 hsa05010 hsa05012 hsa05016 hsa00280] D (MT-C1D) NDUFS1 [HSA:4719] [KO:K03934] D (MT-C1D) NDUFS2 [HSA:4720] [KO:K03935] D (MT-C1D/LS) NDUFS3 [HSA:4722] [KO:K03936] D (MT-C1D/LS) NDUFS4 [HSA:4724] [KO:K03937] D (MT-C1D) NDUFS6 [HSA:4726] [KO:K03939] D (MT-C1D/LS) NDUFS7 [HSA:374291] [KO:K03940] D (MT-C1D/LS) NDUFS8 [HSA:4728] [KO:K03941] D (MT-C1D) NDUFA1 [HSA:4694] [KO:K03945] D (MT-C1D) NDUFA11 [HSA:126328] [KO:K03956] D (MT-C1D/LS) NDUFAF2 [HSA:91942] D (MT-C1D) NDUFAF3 [HSA:25915] [KO:K09008] D (MT-C1D) NDUFAF4 [HSA:29078] D (MT-C1D/LS) NDUFV1 [HSA:4723] [KO:K03942] D (MT-C1D) NDUFV2 [HSA:4729] [KO:K03943] D (MT-C1D) NUBPL [HSA:80224] [KO:K03593] D (MT-C1D/LS) FOXRED1 [HSA:55572] D (MT-C1D) C20orf7 [HSA:79133] D (MT-C1D/LS) C8orf38 [HSA:137682] D (MT-C2D) SDHAF1 [HSA:644096] D (LS) SDHA [HSA:6389] [KO:K00234] D (LS) LRPPRC [HSA:10128] D (MT-C3D/LS/GRACILE) BCS1L [HSA:617] [KO:K08900] D (MT-C3D) UQCRQ [HSA:27089] [KO:K00418] D (MT-C3D) UQCRB [HSA:7381] [KO:K00417] D (MT-C3D) TTC19 [HSA:54902] D (MT-C4D) FASTKD2 [HSA:22868] D (MT-C4D) COX6B1 [HSA:1340] [KO:K02267] D (MT-C4D/LS) COX15 [HSA:1355] [KO:K02259] D (MT-C4D) C2orf64 [HSA:493753] D (MT-ATPSD) ATPAF2 [HSA:91647] [KO:K07556] D (MT-ATPSD) TMEM70 [HSA:54968] D (LS) SURF1 [HSA:6834] [KO:K14998] D (LCHD) HADHA [HSA:3030] [KO:K07515] D (NARP) OPA1 [HSA:4976] D (MELAS) TRNL1 [HSA:4567] [KO:K14228] D ACAD9 [HSA:28976] [KO:K15980] D HADH [HSA:3033] [KO:K00022] D HIBCH [HSA:26275] [KO:K05605] D (SPAX4) MTPAP [HSA:55149] D (SPAX5) AFG3L2 [HSA:10939] [KO:K08956] D (LFIT) TRMU [HSA:55687] [KO:K00566] D (MPCD) SLC25A3 [HSA:5250] [KO:K15102] C H00759 Waardenburg syndrome (WS) [PATH:hsa04916 hsa04520 hsa04020 hsa04080 hsa04916] D (WS 1/3) PAX3 [HSA:5077] [KO:K09381] D (WS 2A) MITF [HSA:4286] [KO:K09455] D (WS 2D) SNAI2 [HSA:6591] [KO:K05706] D (WS 2E/4C) SOX10 [HSA:6663] [KO:K09270] D (WS 4A) EDNRB [HSA:1910] [KO:K04198] D (WS 4B) EDN3 [HSA:1908] [KO:K05227] C H00891 Combined oxidative phosphorylation deficiency (COXPD) D (COXPD1) GFM1 [HSA:85476] [KO:K02355] D (COXPD2) MRPS16 [HSA:51021] [KO:K02959] D (COXPD3) TSFM [HSA:10102] [KO:K02357] D (COXPD4) TUFM [HSA:7284] [KO:K02358] D (COXPD5) MRPS22 [HSA:56945] D (COXPD6) AIFM1 [HSA:9131] [KO:K04727] D (COXPD7) C12orf65 [HSA:91574] C H00967 Adiponectin deficiency [PATH:hsa03320 hsa04920 hsa04930] D ADIPOQ [HSA:9370] [KO:K07296] C H00988 Enterokinase deficiency D TMPRSS15 [HSA:5651] [KO:K01316] C H01022 Diseases of the tricarboxylic acid cycle [PATH:hsa00020] D (FH) FH [HSA:2271] [KO:K01679] D (SDH) SDHA [HSA:6389] [KO:K00234] D (AKGDH) OGDH [HSA:4967] [KO:K00164] C H01108 CD36 deficiency [PATH:hsa03320 hsa04145 hsa04920 hsa04975] D CD36 [HSA:948] [KO:K06259] C H01168 Sea-blue histiocyte disease D APOE [HSA:348] [KO:K04524] C H01193 Familial tumoral calcinosis (FTC) [PATH:hsa00512 hsa04010 hsa04810 hsa00040 hsa00500 hsa04961] D (hFTC) GALNT3 [HSA:2591] [KO:K00710] D (hFTC) FGF23 [HSA:8074] [KO:K04358] D (hFTC) KL [HSA:9365] [KO:K14756] D (nFTC) SAMD9 [HSA:54809] C H01171 Poor drug metabolism (PM) [PATH:hsa00982] D CYP2C19 [HSA:1557] [KO:K07413] C H01205 Coumarin resistance [PATH:hsa00982] D VKORC1 [HSA:79001] [KO:K05357] D CYP2C9 [HSA:1559] [KO:K07413] D GGCX [HSA:2677] [KO:K10106] C H01210 Hypomagnesemia [PATH:hsa04978 hsa04510 hsa04514 hsa04530 hsa04540] D TRPM6 [HSA:140803] [KO:K04981] D FXYD2 [HSA:486] [KO:K01538] D CLDN16 [HSA:10686] [KO:K06087] D EGF [HSA:1950] [KO:K04357] D CLDN19 [HSA:149461] [KO:K06087] C H01230 Adult-onset autosomal dominant leukodystrophy (ADLD) D LMNB1 [HSA:4001] [KO:K07611] C H01231 Biotin-responsive basal ganglia disease (BBGD) [PATH:hsa04977] D SLC19A3 [HSA:80704] [KO:K14610] C H01234 Trimethylaminuria (TMAU) [PATH:hsa00982] D FMO3 [HSA:2328] [KO:K00485] C H01248 Erythrocyte lactate transporter defect D SLC16A1 [HSA:6566] [KO:K08179] C H01249 Ethylmalonic encephalopathy (EE) D ETHE1 [HSA:23474] C H01266 Hypercarotenemia and vitamin A deficiency [PATH:hsa00830] D BCMO1 [HSA:53630] [KO:K00515] C H01267 Familial hyperinsulinemic hypoglycemia (HHF) [PATH:hsa00010 hsa00071 hsa00471 hsa02010 hsa04910 hsa04930] D (HHF1/ LIH) ABCC8 [HSA:6833] [KO:K05032] D (HHF2) KCNJ11 [HSA:3767] [KO:K05004] D (HHF3) GCK [HSA:2645] [KO:K12407] D (HHF4) HADHSC [HSA:3033] [KO:K00022] D (HHF5) INSR [HSA:3643] [KO:K04527] D (HHF6) GLUD1 [HSA:2746] [KO:K00261] D (HHF7) SLC16A1 [HSA:6566] [KO:K08179] C H01268 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome D SLC25A15 [HSA:10166] [KO:K15101] C H01270 Familial hypobetalipoproteinemia (FHBL) [PATH:hsa04975 hsa04977] D APOB [HSA:338] [KO:K14462] D ANGPTL3 [HSA:27329] # AOther congenital disorders B Congenital disorders of development C H00289 Recurrent hydatidiform moles (RHM) D NALP7 [HSA:199713] C H00539 PTEN hamartoma tumor syndrome [PATH:hsa04010 hsa04012 hsa04062 hsa04150 hsa04210 hsa04370 hsa04510 hsa04630] D PTEN [HSA:207] [KO:K04456] C H00559 von Hippel-Lindau syndrome [PATH:hsa04120 hsa05200 hsa05211] D VHL [HSA:7428] [KO:K03871] D CCND1 (polymorphism) [HSA:595] [KO:K04503] C H00446 Craniofacial-deafness-hand syndrome D PAX3 [HSA:5077] [KO:K09381] C H00526 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome D PRG4 [HSA:10216] C H00453 Branchio-oto-renal syndrome D (OFC, BOS1, BOR) EYA1 [HSA:2138] [KO:K15616] D (BOS1, BOR) SIX1 [HSA:6495] [KO:K15614] D (BOR) SIX5 [HSA:147912] C H00528 Frontonasal dysplasia D ALX1 [HSA:8092] [KO:K09334] D ALX3 [HSA:257] [KO:K09323] D ALX4 [HSA:60529] [KO:K09451] C H00267 Holoprosencephaly [PATH:hsa04340] D (HPE2) SIX3 [HSA:6496] D (HPE3) SHH [HSA:6469] [KO:K11988] D (HPE4) TGIF1 [HSA:7050] D (HPE5) ZIC2 [HSA:7546] [KO:K06235] D (HPE7) PTCH1 [HSA:5727] [KO:K06225] D (HPE9) GLI2 [HSA:2736] [KO:K16798] C H00268 Lissencephaly D (LIS1/MDLS) PAFAH1B1 [HSA:5048] [KO:K16794] D (LIS2) RELN [HSA:5649] [KO:K06249] D (LIS3) TUBA1A [HSA:7846] [KO:K07374] D (LISX1) DCX [HSA:1641] [KO:K16579] D (LISX2) ARX [HSA:170302] [KO:K09452] D (MDLS) YWHAE [HSA:7531] [KO:K06630] C H00269 Primary microcephaly D (MCPH1) MCPH1 [HSA:79648] D (MCPH3) CDK5RAP2 [HSA:55755] [KO:K16542] D (MCPH5) ASPM [HSA:259266] [KO:K16743] D (MCPH6) CENPJ [HSA:55835] [KO:K11502] D (MCPH7) STIL [HSA:6491] [KO:K16724] D (MCPHSBA) MED17 [HSA:9440] [KO:K15133] C H00270 Periventricular nodular heterotopia D (PVNH1/3) FLNA [HSA:2316] [KO:K04437] D (PVNH2) ARFGEF2 [HSA:10564] C H00271 Polymicrogyria D (BFPP) GPR56 [HSA:9289] [KO:K08450] D (BPP) SRPX2 [HSA:27286] D (ULP) PAX6 [HSA:5080] [KO:K08031] D (BGP) KIAA1279 [HSA:26128] D EOMES [HSA:8320] [KO:K10173] D RAB3GAP1 [HSA:22930] D COL18A1 [HSA:80781] [KO:K06823] D TUBA8 [HSA:51807] [KO:K07374] C H00544 Septo-optic dysplasia D HESX1 [HSA:8820] [KO:K09354] D SOX2 [HSA:6657] [KO:K16796] D SOX3 [HSA:6658] [KO:K09267] D OTX2 [HSA:5015] [KO:K09326] C H00261 Meckel syndrome D (MKS1) MKS1 [HSA:54903] D (MKS3) TMEM67 [HSA:91147] D (MKS4) CEP290 [HSA:80184] [KO:K16533] D (MKS5) RPGRIP1L [HSA:23322] [KO:K16550] D (MKS6) CC2D2A [HSA:57545] D (MKS7) NPHP3 [HSA:27031] C H00262 Spina Bifida [PATH:hsa00670] D MTHFR [HSA:4524] [KO:K00297] D VANGL1 [HSA:81839] [KO:K04510] D MTR [HSA:4548] [KO:K00548] D MTRR [HSA:4552] [KO:K00597] D MTHFD1 [HSA:4522] [KO:K00288] C H00263 Acrocallosal syndrome [PATH:hsa04340] D GLI3 [HSA:2737] [KO:K06230] C H00516 Isolated orofacial clefts D IRF6 [HSA:3664] [KO:K10154] D MSX1 [HSA:4487] [KO:K09341] D FGFR1 [HSA:2260] [KO:K04362] D PVRL1 [HSA:5818] [KO:K06081] D TP63 [HSA:8626] [KO:K10149] D TBX22 [HSA:50945] [KO:K10186] D TGFA [HSA:7039] [KO:K08774] D TGFB3 [HSA:7043] [KO:K13377] D MTHFR [HSA:4524] [KO:K00297] D RARA [HSA:5914] [KO:K08527] D GSTT1 [HSA:2952] [KO:K00799] D EPHX1 [HSA:2052] [KO:K01253] D SUMO1 [HSA:7341] [KO:K12160] D BMP4 [HSA:652] [KO:K04662] C H00529 Cranioectodermal dysplasia D WDR35 [HSA:57539] D IFT122 [HSA:55764] C H00523 Noonan syndrome [PATH:hsa04010] D (NS, LS) PTPN11 [HSA:5781] [KO:K07293] D (NS, CFCS) KRAS [HSA:3845] [KO:K07827] D (NS) SOS1 [HSA:6654] [KO:K03099] D (NS, LS) RAF1 [HSA:369] [KO:K08845] D (NS) NRAS [HSA:4893] [KO:K07828] D (NS, LS, CFCS) BRAF [HSA:673] [KO:K04365] D (CBL) CBL [HSA:867] [KO:K04707] D (NS/LAH) SHOC2 [HSA:8036] D (CFCS) MEK1 [HSA:5604] [KO:K04368] D (CFCS) MEK2 [HSA:5605] [KO:K04369] D (NF1, NFNS) NF1 [HSA:4763] [KO:K08052] D (NF2) NF2 [HSA:4771] [KO:K16684] D (Legius) SPRED1 [HSA:161742] [KO:K04703] D (CS) HRAS [HSA:3265] [KO:K02833] C H00530 Joubert syndrome [PATH:hsa00562 hsa04070] D AHI1 (mutation) [HSA:54806] [KO:K16740] D NPHP1 (deletion) [HSA:4867] D CEP290 (mutation) [HSA:80184] [KO:K16533] D TMEM67 (mutation) [HSA:91147] D RPGRIP1L (mutation) [HSA:23322] [KO:K16550] D ARL13B (mutation) [HSA:200894] [KO:K07962] D CC2D2A (mutation) [HSA:57545] D OFD1 (mutation) [HSA:8481] [KO:K16480] D TMEM216 (mutation) [HSA:51259] D INPP5E (mutation) [HSA:56623] [KO:K01099] C H00465 Fragile X Syndrome [PATH:hsa03013] D FMR1 [HSA:2332] [KO:K15516] C H00569 Aarskog-Scott syndrome [PATH:hsa04810] D FGD1 [HSA:2245] [KO:K05720] C H00583 Opitz-GBBB syndrome [PATH:hsa04120] D MID1 [HSA:4281] [KO:K08285] C H00551 Alagille syndrome [PATH:hsa04330] D JAG1 [HSA:182] [KO:K06052] D NOTCH2 [HSA:4853] [KO:K02599] C H00555 Char syndrome D TFAP2B [HSA:7021] [KO:K09176] C H00556 CHARGE syndrome D CHD7 [HSA:55636] [KO:K14437] D SEMA3E [HSA:9723] [KO:K06840] C H00564 Primary ciliary dyskinesia D DNAI1 [HSA:27019] [KO:K10409] D DNAI2 [HSA:64446] [KO:K11143] D DNAH5 [HSA:1767] D DNAH11 [HSA:8701] D TXNDC3 [HSA:51314] D KTU [HSA:55172] D RSPH4A [HSA:345895] D RSPH9 [HSA:221421] D LRRC50 [HSA:123872] D CCDC39 [HSA:339829] D CCDC40 [HSA:55036] C H00570 Kabuki syndrome [PATH:hsa00310] D MLL2 [HSA:8085] [KO:K09187] C H00573 Townes-Brocks syndrome D SALL1 [HSA:6299] C H00611 Popliteal pterygium syndrome D IRF6 [HSA:3664] [KO:K10154] C H00629 Acheiropodia D LMBR1 (deletion) [HSA:64327] C H00636 Tetra-amelia [PATH:hsa04310] D WNT3 [HSA:7473] [KO:K00312] C H00632 Heterotaxy [PATH:hsa04350 hsa04060] D NODAL [HSA:4838] [KO:K04666] D ZIC3 [HSA:7547] [KO:K09224] D CFC1 [HSA:55997] D ACVR2B [HSA:93] [KO:K13596] C H00622 Hypoparathyroidism-retardation-dysmorphism syndrome D TBCE [HSA:6905] C H00642 Lacrimo-auriculo-dento-digital syndrome (LADD) [PATH:hsa04010 hsa04144 hsa04810] D FGF10 [HSA:2255] [KO:K04358] D FGFR2 [HSA:2263] [KO:K05093] D FGFR3 [HSA:2261] [KO:K05094] C H00643 Tooth and nail syndrome D MSX1 [HSA:4487] [KO:K09341] C H00677 Aplasia of lacrimal and salivary glands [PATH:hsa04010] D FGF10 [HSA:2255] [KO:K04358] C H00663 Restrictive dermopathy D LMNA [HSA:4000] [KO:K12641] D ZMPSTE24 [HSA:10269] [KO:K06013] C H00709 Birk Barel mental retardation syndrome (BBMRS) D KCNK9 [HSA:51305] [KO:K04919] C H00711 Russell-Silver syndrome D H19 [HSA:283120] D IGF2 [HSA:3481] [KO:K13769] C H00713 Beckwith-Wiedemann syndrome [PATH:hsa04110] D CDKN1C [HSA:1028] [KO:K09993] D KCNQ10T1 [HSA:10984] D H19 [HSA:283120] D IGF2 [HSA:3481] [KO:K13769] D NSD1 [HSA:64324] [KO:K15588] C H00718 Sotos syndrome and Weaver syndrome D NSD1 [HSA:64324] [KO:K15588] C H00653 Marfan syndrome D FBN1 [HSA:2200] [KO:K06825] C H00659 Shprintzen-Goldberg syndrome D FBN1 [HSA:2200] [KO:K06825] C H00660 Congenital contractural arachnodactyly D FBN2 [HSA:2201] C H00661 MASS phenotype D FBN1 [HSA:2200] [KO:K06825] C H00685 Bifid nose with or without anorectal and renal anomalies D FREM1 [HSA:158326] C H00686 Manitoba oculotrichoanal syndrome D FREM1 [HSA:158326] C H00687 Fraser syndrome D FRAS1 [HSA:80144] D FREM2 [HSA:341640] C H00802 Ehlers-Danlos syndrome (EDS) [PATH:hsa04510 hsa04512 hsa00310 hsa00532 hsa00534] D (EDS1/7A) COL1A1 [HSA:1277] [KO:K06236] D (EDS7B/CV) COL1A2 [HSA:1278] [KO:K06236] D (EDS3/4) COL3A1 [HSA:1281] [KO:K06236] D (EDS1/2) COL5A1 [HSA:1289] [KO:K06236] D (EDS1) COL5A2 [HSA:1290] [KO:K06236] D (EDS6) PLOD [HSA:5351] [KO:K00473] D (EDS7C) ADAMTS2 [HSA:9509] [KO:K08618] D (EDSMC) CHST14 [HSA:113189] [KO:K08105] D (EDSP) B4GALT7 [HSA:11285] [KO:K00733] D (TNXD) TNXB [HSA:7148] [KO:K06252] D (EDS6B) ZNF469 [HSA:84627] D (SCD-EDS) SLC39A13 [HSA:91252] [KO:K14719] C H00719 Leprechaunism [PATH:hsa04520 hsa04910 hsa04930 hsa04960] D INSR [HSA:3643] [KO:K04527] C H00752 Ankyloblepharon-ctodermal defects-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndrome D TP63 [HSA:8626] [KO:K10149] C H00815 Hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, and hypogonadism D SLC29A3 [HSA:55315] [KO:K15014] C H00817 Branchiooculofacial syndrome D TFAP2A [HSA:7020] [KO:K09176] C H00823 ABCD syndrome [PATH:hsa04020 hsa04080 hsa04916] D EDNRB [HSA:1910] [KO:K04198] C H00826 Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) D FOXL2 [HSA:668] [KO:K09405] C H00850 Frontorhiny D ALX3 [HSA:257] [KO:K09323] C H00852 Klippel-Feil syndrome(KFS) [PATH:hsa04350] D (KFS1) GDF6 [HSA:392255] [KO:K04664] D (KFS3) GDF3 [HSA:9573] [KO:K05495] C H00792 Warburg micro syndrome D RAB3GAP1 [HSA:22930] D RAB18 [HSA:22931] [KO:K07910] C H00797 Martsolf syndrome D RAB3GAP2 [HSA:25782] C H00788 Hoyeraal-Hreidarsson syndrome [PATH:hsa03008] D DKC1 [HSA:1736] [KO:K11131] C H00866 Trichothiodystrophy non-photosensitive type 1 (TTDN1) D TTDN1 [HSA:136647] C H00882 Cocoon syndrome [PATH:hsa04010 hsa04062 hsa04210 hsa04380 hsa04620 hsa04621 hsa04622 hsa04623 hsa04660 hsa04662 hsa04920] D CHUK [HSA:1147] [KO:K04467] C H00894 FG syndrome (FGS) [PATH:hsa04010 hsa04510 hsa04530] D (FGS1) MED12 [HSA:9968] [KO:K15162] D (FGS2) FLNA [HSA:2316] [KO:K04437] D (FGS4) CASK [HSA:8573] [KO:K06103] C H00859 Guttmacher syndrome D HOXA13 [HSA:3209] [KO:K09298] C H00873 Cousin syndrome D TBX15 [HSA:6913] [KO:K10182] C H00886 Donnai-Barrow syndrome [PATH:hsa04340] D LRP2 [HSA:4036] [KO:K06233] C H00910 Hirschsprung disease (HD) [PATH:hsa04020 hsa04080] D RET [HSA:5979] [KO:K05126] D EDNRB [HSA:1910] [KO:K04198] D GDNF [HSA:2668] [KO:K05452] D EDN3 [HSA:1908] [KO:K05227] C H00935 Cold-induced sweating syndrome (CISS) and Crisponi syndrome (CRISPS) [PATH:hsa04060 hsa04630] D (CISS1/CRISPS) CRLF1 [HSA:9244] D (CISS2) CLCF1 [HSA:23529] [KO:K05421] C H00900 Geleophysic dysplasia D ADAMTSL2 [HSA:9719] D FBN1 [HSA:2200] [KO:K06825] C H00903 Congenital clubfoot D PITX1 [HSA:5307] [KO:K09356] C H00909 Cleft palate with ankyloglossia D TBX22 [HSA:50945] [KO:K10186] C H00914 Warsaw breakage syndrome D DDX11 [HSA:1663] [KO:K11273] C H00915 Tuberous sclerosis complex (TSC) [PATH:hsa04115 hsa04150 hsa04910] D TSC1 [HSA:7248] [KO:K07206] D TSC2 [HSA:7249] [KO:K07207] C H00922 Schinzel-Giedion midface retraction syndrome D SETBP1 [HSA:26040] C H00926 Growth retardation, developmental delay, coarse facies, and early death D FTO [HSA:79068] C H00934 Caudal duplication anomaly [PATH:hsa04310] D AXIN1 (methylation at the promoter region) [HSA:8312] [KO:K02157] C H00936 Goldberg-Shprintzen megacolon syndrome D KBP [HSA:26128] C H00939 Neutropenia, severe congenital 4, autosomal recessive D G6PC3 [HSA:92579] C H00943 TARP syndrome D RBM10 [HSA:8241] [KO:K13094] C H00946 Arts syndrome [PATH:hsa00030 hsa00230 hsa01100] D PRPS1 [HSA:5631] [KO:K00948] C H00965 RAPADILINO syndrome D RECQL4 [HSA:9401] [KO:K10730] C H00997 CATSHL syndrome [PATH:hsa04010 hsa04810] D FGFR3 [HSA:2261] [KO:K05094] C H00969 Skeletal defects, genital hypoplasia, and mental retardation D ZBTB16 [HSA:7704] [KO:K10055] C H00972 Endocrine-cerebro-osteodysplasia syndrome D ICK [HSA:22858] [KO:K08828] C H00979 Caudal regression syndrome and Sirenomelia [PATH:hsa04310] D VANGL1 [HSA:81839] [KO:K04510] C H00986 Multiple pterygium syndrome [PATH:hsa04080] D (LMPS, EVMPS) CHRNG [HSA:1146] [KO:K04818] D (LMPS) CHRNA1 [HSA:1134] [KO:K04803] D (LMPS) CHRND [HSA:1144] [KO:K04816] C H00987 Fetal akinesia deformation sequence (FADS) D RAPSN [HSA:5913] D DOK7 [HSA:285489] C H00990 Microcephaly, Amish type D SLC25A19 [HSA:60386] [KO:K15108] C H00992 Seckel syndrome [PATH:hsa03460 hsa04110 hsa04115] D ATR [HSA:545] [KO:K06640] D CENPJ [HSA:55835] [KO:K11502] D CTIP [HSA:5932] D PCNT [HSA:5116] [KO:K16481] D CEP152 [HSA:22995] [KO:K16728] C H01001 COACH syndrome D CC2D2A [HSA:57545] D RPGRIP1L [HSA:23322] [KO:K16550] D TMEM67 [HSA:91147] C H01004 Velocardiofacial syndrome D TBX1 [HSA:6899] [KO:K10175] C H01008 C syndrome D CD96 [HSA:10225] [KO:K06517] D (BOPS) ASXL1 [HSA:171023] [KO:K11471] C H01015 Jalili syndrome D CNNM4 [HSA:26504] [KO:K16302] C H01017 Choanal atresia and lymphedema D PTPN14 [HSA:5784] [KO:K01104] C H01026 Renal coloboma syndrome (RCS) D PAX2 [HSA:5076] [KO:K15608] C H01027 Anophthalmia and microphthalmia (A/M) [PATH:hsa04340 hsa04350 hsa00860] D (with cataract) SIX6 [HSA:4990] D (with cataract) CRYBA4 [HSA:1413] D (with coloboma, isolated) VSX2 [HSA:338917] [KO:K09336] D (with coloboma) SHH [HSA:6469] [KO:K11988] D (with coloboma, isolated) GDF3 [HSA:9573] [KO:K05495] D (with coloboma, isolated) GDF6 [HSA:392255] [KO:K04664] D (isolated) RAX [HSA:30062] [KO:K09332] D (isolated) MFRP [HSA:83552] D (syndromic) BCOR [HSA:54880] D (syndromic) SOX2 [HSA:6657] [KO:K16796] D (syndromic) OTX2 [HSA:5015] [KO:K09326] D (syndromic) BMP4 [HSA:652] [KO:K04662] D (syndromic) HCCS [HSA:3052] [KO:K01764] D (syndromic) STRA6 [HSA:64220] C H01035 Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia D IGBP1 (5-prime region) [HSA:3476] C H01095 Syndactyly [PATH:ko04540] D GJA1 [HSA:2697] [KO:K07372] D LMBR1 [HSA:64327] D HOXD13 [HSA:3239] [KO:K09298] C H01105 Cranio-lenticulo-sutural dysplasia (CLSD) [PATH:hsa04141] D SEC23A [HSA:10484] [KO:K14006] C H01112 Polyhydramnios, megalencephaly, and symptomatic epilepsy [PATH:hsa04150] D STRADA [HSA:92335] [KO:K08271] C H01114 Ocular coloboma D PAX6 [HSA:5080] [KO:K08031] C H01156 STAR syndrome D FAM58A [HSA:92002] C H01160 Schizencephaly [PATH:hsa04340] D SIX3 [HSA:6496] D SHH [HSA:6469] [KO:K11988] D EMX2 [HSA:2018] [KO:K09317] C H01195 VACTERL/VATER association [PATH:hsa00562 hsa04070 hsa04115 hsa04510 hsa04530] D PTEN [HSA:5728] [KO:K01110] D HOXD13 [HSA:3239] [KO:K09298] D ZIC3 [HSA:7547] [KO:K09224] C H01207 Trigonocephaly [PATH:hsa04010 hsa04520 hsa04810] D FGFR1 [HSA:2260] [KO:K04362] D FREM1 [HSA:158326] C H01211 MECP2-related severe neonatal encephalopathy D MECP2 [HSA:4204] [KO:K11588] C H01215 Simpson-Golabi-Behmel syndrome (SGBS) D (Type 1) GPC3 [HSA:2719] [KO:K08109] D (Type 2) OFD1 [HSA:8481] [KO:K16480] C H01222 Cowden-like syndrome [PATH:hsa00020 hsa00190] D SDHB [HSA:6390] [KO:K00235] D SDHD [HSA:6392] [KO:K00237] C H01223 Mental retardation-stereotypic movements-epilepsy and/or cerebral malformations (MRSME) D MEF2C [HSA:4208] [KO:K04454] C H01226 GLI3 morphopathies [PATH:hsa04340] D GLI3 [HSA:2737] [KO:K06230] C H01238 Phelan-McDermid syndrome [PATH:hsa04724] D SHANK3 [HSA:85358] [KO:K15009] C H01241 Congenital diaphragmatic hernia (CDH) D ZFPM2 [HSA:23414] C H01246 Isolated congenital nail clubbing (ICNC) D HPGD [HSA:3248] [KO:K00069] C H01250 Hereditary gingival fibromatosis (HGF) [PATH:hsa04010] D SOS1 [HSA:6654] [KO:K03099] C H01251 Focal cortical dysplasia of Taylor [PATH:hsa04150 hsa04910] D TSC1 [HSA:7248] [KO:K07206] C H01265 Hydrolethalus syndrome D HYLS1 [HSA:219844] [KO:K16472] D KIF7 [HSA:374654] [KO:K10395] C H01271 Hypoparathyroidism with sensorineural deafness and renal dysplasia D GATA3 [HSA:2625] [KO:K09182] C H01272 Hypoplastic left heart syndrome (HLHS) [PATH:hsa04540] D GJA1 [HSA:2697] [KO:K07372] D NKX2-5 [HSA:1482] [KO:K09345] D HAND1 [HSA:9421] [KO:K09071] C H01281 Lathosterolosis [PATH:hsa00100] D SC5DL [HSA:6309] [KO:K00227] C H01282 Spermatogenic failure D AURKC [HSA:6795] [KO:K11480] D CATSPER1 [HSA:117144] [KO:K16889] D NR5A1 [HSA:2516] [KO:K08560] D KLHL10 [HSA:317719] [KO:K10448] C H01286 Microtia hearing impairment and cleft palate (MHICP) D HOXA2 [HSA:3199] [KO:K09302] C H01288 Mosaic variegated aneuploidy (MVA) syndrome [PATH:hsa04110] D BUB1B [HSA:701] [KO:K06637] D CEP57 [HSA:9702] [KO:K16762] C H01289 Mulibrey nanism [PATH:hsa04120] D TRIM37 [HSA:4591] [KO:K10608] C H01292 Nance-Horan syndrome D NHS [HSA:4810] C H01305 Global cerebral hypomyelination D SLC25A12 [HSA:8604] [KO:K15105] C H01307 Nonsyndromic congenital nail disorder (NDNC) [PATH:hsa04020 hsa04070 hsa04310] D PLCD1 [HSA:5333] [KO:K05857] D RSPO4 [HSA:343637] D COL7A1 [HSA:1294] [KO:K16628] D FZD6 [HSA:8323] [KO:K02376] C H01308 Macrocephaly macrosomia facial dysmorphism syndrome D RNF135 [HSA:84282] [KO:K16272] B Ribosomopathies C H00237 Diamond-Blackfan anemia (DBA) [PATH:hsa03010] D (DBA) RPS19 [HSA:6223] [KO:K02966] D (DBA3) RPS24 [HSA:6229] [KO:K02974] D (DBA4) RPS17 [HSA:6218] [KO:K02962] D (DBA5) RPL35A [HSA:6165] [KO:K02917] D (DBA6) RPL5 [HSA:6125] [KO:K02932] D (DBA7) RPL11 [HSA:6135] [KO:K02868] D (DBA8) RPS7 [HSA:6201] [KO:K02993] D (DBA9) RPS10 [HSA:6204] [KO:K02947] D (DBA10) RPS26 [HSA:6231] [KO:K02976] C H00439 Shwachman-Diamond syndrome (SDS) [PATH:hsa03008] D SBDS [HSA:51119] [KO:K14574] C H00507 Dyskeratosis congenita (DC) [PATH:hsa03008] D (DKCX) DKC1 [HSA:1736] [KO:K11131] D (DKCA1) TERC [HSA:7012] D (DKCB1) NOP10 [HSA:55505] [KO:K11130] D (DKCB1) NHP2 [HSA:55651] [KO:K11129] C H00518 RMRP related disorders [PATH:hsa03008] D RMRP [HSA:6023] C H00610 Treacher Collins syndrome [PATH:hsa03008 hsa03020] D (TCS1) TCOF1 [HSA:6949] [KO:K14562] D (TCS2) POLR1D [HSA:9533] [KO:K03027] D (TCS3) POLR1C [HSA:51082] [KO:K03020] C H00616 Bowen-Conradi syndrome (BCS) [PATH:hsa03008] D EMG1 [HSA:10436] [KO:K14568] C H00621 Alopecia neurologic defects and endocrinopathy syndrome (ANE syndrome) [PATH:hsa03008] D RBM28 [HSA:55131] [KO:K14573] C H00624 North American Indian childhood cirrhosis (NAIC) [PATH:hsa02010 hsa04976 hsa00120 hsa03008] D (PFIC1/BRIC1/ICP) ATP8B1 [HSA:5205] [KO:K01530] D (PFIC2/BRIC2/ICP) ABCB11 [HSA:8647] [KO:K05664] D (PFIC3/ICP) ABCB4 [HSA:5244] [KO:K05659] D (PFIC4) HSD3B7 [HSA:80270] [KO:K12408] D (NAIC) CIRH1A [HSA:84916] [KO:K14548] B Others C H00478 Prader-Willi and Angelman syndromes [PATH:hsa04120] D (AS) UBE3A [HSA:7337] [KO:K10587] D (AS) MECP2 [HSA:4204] [KO:K11588] D (AS) CDKL5 [HSA:6792] [KO:K08824] D (PWS) NDN [HSA:4692] D (PWS) SNRPN [HSA:6638] [KO:K11100] C H00480 Non-syndromic X-linked mental retardation [PATH:hsa04810] D FMR2 [HSA:2334] [KO:K15194] D GDI1 [HSA:2664] D PAK3 [HSA:5063] [KO:K05733] D IL1RAPL1 [HSA:11141] [KO:K05170] D RPS6KA3 [HSA:6197] [KO:K04373] D MECP2 [HSA:4204] [KO:K11588] D ARHGEF6 [HSA:9459] [KO:K05729] D TM4SF2 [HSA:7102] [KO:K06571] D SLC6A8 [HSA:6535] [KO:K05039] D ARX [HSA:170302] [KO:K09452] D ATRX [HSA:546] [KO:K10779] D ACSL4 [HSA:2182] [KO:K01897] D AGTR2 [HSA:186] [KO:K04167] D PQBP1 [HSA:10084] [KO:K12865] D ZNF41 [HSA:7592] [KO:K09228] D NLGN4 [HSA:57502] [KO:K07378] D FTSJ1 [HSA:24140] [KO:K14864] D DLG3 [HSA:1741] [KO:K12075] D HSD17B10 [HSA:3028] [KO:K08683] D MAGT1 [HSA:84061] D ZNF81 [HSA:347344] [KO:K09228] D IQSEC2 [HSA:23096] [KO:K12495] C H00658 Syndromic X-linked mental retardation [PATH:hsa04120 hsa03420 hsa03015] D (MRXST) HUWE1 [HSA:10075] [KO:K10592] D (MRXSSD) PHF8 [HSA:23133] [KO:K11445] D (MRXC) CUL4B [HSA:8450] [KO:K10609] D (MRXSR) ZDHHC9 [HSA:51114] D (MRXS10) HSD17B10 [HSA:3028] [KO:K08683] D (MRXS14) UPF3B [HSA:65109] [KO:K14328] D (MRGH) SOX3 [HSA:6658] [KO:K09267] C H00574 Coffin-Lowry syndrome (CLS) [PATH:hsa04010 hsa04114] D RPS6KA3 [HSA:6197] [KO:K04373] C H00597 Snyder-Robinson syndrome [PATH:hsa00270 hsa00330 hsa00410 hsa00480] D SMS [HSA:6611] [KO:K00802] C H00606 Early infantile epileptic encephalopathy [PATH:hsa04530 hsa04540 hsa04721 hsa04725] D (EIEE1) ARX [HSA:170302] [KO:K09452] D (EIEE2) CDKL5 [HSA:6792] [KO:K08824] D (EIEE3) SLC25A22 [HSA:79751] [KO:K15107] D (EIEE4) STXBP1 [HSA:6812] [KO:K15292] D (EIEE5) SPTAN1 [HSA:6709] [KO:K06114] D (EIEE7) KCNQ2 [HSA:3785] [KO:K04927] D (EIEE8) ARHGEF9 [HSA:23229] D (EIEE9) PCDH19 [HSA:57526] [KO:K16499] D (EIEE10) PNKP [HSA:11284] [KO:K08073] D (EIEE11) SCN2A1 [HSA:6326] [KO:K04834] D (EIEE12) PLCB1 [HSA:23236] [KO:K05858] D (Lennox-Gastaut type) MAPK10 [HSA:5602] [KO:K04440] C H00682 Woodhouse-Sakati syndrome D C2orf37 [HSA:80067] C H00688 Familial advanced sleep phase syndrome [PATH:hsa04710] D PER2 [HSA:8864] [KO:K02633] C H00689 Delayed sleep phase syndrome [PATH:hsa00380 hsa01100] D AANAT (polymorphysm) [HSA:15] [KO:K00669] C H00764 Cri du chat syndrome [PATH:hsa04360] D SEMA5A [HSA:9037] [KO:K06841] D CTNND2 [HSA:1501] D TERT [HSA:7015] [KO:K11126] C H00768 Nonsyndromic autosomal recessive mental retardation (NS-ARMR) [PATH:hsa00510 hsa00514 hsa00533 hsa00601 hsa04080 hsa04141 hsa04724] D (MRT1) PRSS12 [HSA:8492] [KO:K09624] D (MRT2) CRBN [HSA:51185] [KO:K11793] D (MRT3) CC2D1A [HSA:54862] D (MRT6) GRIK2 [HSA:2898] [KO:K05202] D (MRT7) TUSC3 [HSA:7991] [KO:K12669] D (MRT12) ST3GAL3 [HSA:6487] [KO:K00781] D (MRT13) TRAPPC9 [HSA:83696] C H00773 Non-syndromic autosomal dominant mental retardation [PATH:hsa04514] D (MRD1) MBD5 [HSA:55777] D (MRD2) DOCK8 [HSA:81704] D (MRD3) CDH15 [HSA:1013] [KO:K06809] D (MRD4) KIRREL3 [HSA:84623] D (MRD5) SYNGAP1 [HSA:8831] C H00756 Pitt-Hopkins syndrome [PATH:hsa04514] D (Pitt-Hopkins) TCF4 [HSA:6925] [KO:K15603] D (Pitt-Hopkins-like) CNTNAP2 [HSA:26047] [KO:K07380] D (Pitt-Hopkins-like) NRXN1 [HSA:9378] [KO:K07377] C H00862 Tourette syndrome [PATH:hsa00340] D SLITRK1 [HSA:114798] D HDC [HSA:3067] [KO:K01590] C H00864 Trichotillomania D SLITRK1 [HSA:114798] C H00902 Speech-language disorder 1 (SPCH1) D FOXP2 [HSA:93986] [KO:K09409] C H00907 Kleefstra syndrome [PATH:hsa00310] D EHMT1 [HSA:79813] [KO:K11420] C H00908 Mowat-Wilson syndrome D ZEB2 [HSA:9839] [KO:K09299] C H00916 Congenital central hypoventilation syndrome (CCHS) [PATH:hsa04010 hsa04722] D PHOX2B [HSA:8929] [KO:K09330] D GDNF [HSA:2668] [KO:K05452] D RET [HSA:5979] [KO:K05126] D BDNF [HSA:627] [KO:K04355] D ASCL1 [HSA:429] [KO:K09067] D EDN3 [HSA:1908] [KO:K05227] C H00936 Goldberg-Shprintzen megacolon syndrome D KBP [HSA:26128] C H00940 Cohen syndrome D COH1 [HSA:157680] C H00994 Familial skewed X-chromosome inactivation D XIST [HSA:7503] C H01134 Rhabdoid predisposition syndrome (RPS) D SMARCB1 [HSA:6598] [KO:K11648] D SMARCA4 [HSA:6597] [KO:K11647] C H01306 FRA12A mental retardation D DIP2B [HSA:57609] ! #
#[ DISEASE | BRITE | KEGG2 | KEGG ]
#Last updated: August 7, 2012 #

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