Species

KNApSAcK Entry

Organism name Spatholobus suberectus
Genus Spatholobus
Family Fabaceae
Kingdom Plantae

NCBI taxonomy

Entry

Linked NCBI taxonomy name Spatholobus suberectus
Linked NCBI taxonomy ID 455371
Linked level species

Family

Family in NCBI taxonomy Fabaceae
ID 3803

Kingdom (Superkingdom)

Kingdom (Superkingdom) in NCBI taxonomy Viridiplantae
ID 33090

Plant class

Plant class rosids
ID 71275

Metabolite list (7)

KNApSAcK ID name ChEMBL link CTD link # of proteins in
ChEMBL interaction
/ related OMIM
/ related KEGG DISEASE
# of genes in
CTD interaction
/ related diseases
KCF-S
cluster
phytochemical
cluster
figure
C00002512 External link 512 Cajanin
/ 5,2',4'-Trihydroxy-7-methoxyisoflavone
CHEMBL469630
No. 3 No. 15
C00002525 External link 512 Formononetin
/ 7-Hydroxy-4'-methoxyisoflavone
CHEMBL242341
C007768
24 / 36 / 58 13 / 0 No. 3 No. 15
C00002507 External link 512 Castanin
/ Afromosin
/ Afrormosin
/ 7-Hydroxy-6,4'-dimethoxyisoflavone
CHEMBL464404
C080240
7 / 14 / 39 1 / 0 No. 35 No. 15
C00008551 External link 512 3,7-Dihydroxy-6-methoxyflavanone
CHEMBL254729
No. 42 No. 14
C00001454 External link 512 Prunasin
/ (-)-Prunasin
/ (2R)-Prunasin
/ (-)-(2R)-Prunasin
CHEMBL1778417
No. 45 No. 72
C00000956 External link 512 (-)-Epicatechin
CHEMBL80941
CHEMBL311498
CHEMBL129482
CHEMBL200715
CHEMBL206452
CHEMBL583912
85 / 58 / 54 No. 52 No. 14
C00007057 External link 512 Licochalcone A
CHEMBL139702
C070840
1 / 0 / 0 1 / 0 No. 3383

Human Protein / Gene in interactions

102 ChEMBL Protein in interactions

accession description class description KNApSAcK metabolite in interactions # of diseases
(OMIM / KEGG)
P10635 Cytochrome P450 2D6 Cytochrome P450 2D6 C00000956 C00002525 1 / 0
Q03164 Histone-lysine N-methyltransferase 2A Enzyme C00000956 C00002525 1 / 2
O00255 Menin Unclassified protein C00000956 C00002525 2 / 5
P18031 Tyrosine-protein phosphatase non-receptor type 1 Tyr C00000956 C00007057 0 / 0
B2RXH2 Lysine-specific demethylase 4E Enzyme C00000956 C00002525 0 / 0
P04637 Cellular tumor antigen p53 Transcription Factor C00002507 C00002525 7 / 37
P10636 Microtubule-associated protein tau Unclassified protein C00000956 C00002525 4 / 3
Q16637 Survival motor neuron protein Unclassified protein C00000956 C00002525 4 / 1
P08684 Cytochrome P450 3A4 Cytochrome P450 3A4 C00000956 C00002525 0 / 1
P33261 Cytochrome P450 2C19 Cytochrome P450 2C19 C00000956 C00002525 1 / 1
P15428 15-hydroxyprostaglandin dehydrogenase [NAD(+)] Enzyme C00000956 C00002525 2 / 2
Q99714 3-hydroxyacyl-CoA dehydrogenase type-2 Enzyme C00000956 C00002525 3 / 3
P38398 Breast cancer type 1 susceptibility protein Enzyme C00002507 C00002525 4 / 2
P00352 Retinal dehydrogenase 1 Enzyme C00000956 C00002525 0 / 0
P11712 Cytochrome P450 2C9 Cytochrome P450 2C9 C00000956 C00002525 0 / 1
Q16236 Nuclear factor erythroid 2-related factor 2 Unclassified protein C00002525 0 / 0
P52209 6-phosphogluconate dehydrogenase, decarboxylating Enzyme C00000956 0 / 0
Q03181 Peroxisome proliferator-activated receptor delta NR1C2 C00002525 0 / 0
Q8N1Q1 Carbonic anhydrase 13 Lyase C00000956 0 / 0
P28907 ADP-ribosyl cyclase 1 Enzyme C00000956 0 / 1
P16473 Thyrotropin receptor Glycohormone receptor C00000956 3 / 2
P47989 Xanthine dehydrogenase/oxidase Oxidoreductase C00000956 1 / 1
P00918 Carbonic anhydrase 2 Lyase C00000956 1 / 2
P02768 Serum albumin Secreted protein C00000956 0 / 0
P04798 Cytochrome P450 1A1 Cytochrome P450 1A1 C00002525 0 / 0
P49327 Fatty acid synthase Transferase C00000956 0 / 0
P35218 Carbonic anhydrase 5A, mitochondrial Lyase C00000956 0 / 0
P54132 Bloom syndrome protein Enzyme C00000956 1 / 2
P11388 DNA topoisomerase 2-alpha Isomerase C00000956 0 / 0
P11473 Vitamin D3 receptor NR1I1 C00000956 2 / 3
P23219 Prostaglandin G/H synthase 1 Oxidoreductase C00000956 0 / 0
P41145 Kappa-type opioid receptor Opioid receptor C00000956 0 / 0
P23280 Carbonic anhydrase 6 Lyase C00000956 0 / 0
Q9Y3R4 Sialidase-2 Enzyme C00000956 0 / 0
Q9ULX7 Carbonic anhydrase 14 Lyase C00000956 0 / 0
Q9Y2D0 Carbonic anhydrase 5B, mitochondrial Lyase C00000956 0 / 0
P17405 Sphingomyelin phosphodiesterase Enzyme C00002507 2 / 2
O43570 Carbonic anhydrase 12 Lyase C00000956 1 / 2
P39748 Flap endonuclease 1 Enzyme C00000956 0 / 0
P07998 Ribonuclease pancreatic Enzyme C00000956 0 / 0
P84022 Mothers against decapentaplegic homolog 3 Unclassified protein C00000956 2 / 0
O75496 Geminin Unclassified protein C00002507 0 / 0
P51151 Ras-related protein Rab-9A Unclassified protein C00002507 0 / 0
P10253 Lysosomal alpha-glucosidase Hydrolase C00000956 1 / 1
P41143 Delta-type opioid receptor Opioid receptor C00000956 0 / 0
P00915 Carbonic anhydrase 1 Lyase C00000956 0 / 0
P07711 Cathepsin L1 C1A C00000956 0 / 0
Q9Y253 DNA polymerase eta Enzyme C00000956 1 / 1
P09923 Intestinal-type alkaline phosphatase Enzyme C00000956 0 / 0
P05186 Alkaline phosphatase, tissue-nonspecific isozyme Enzyme C00000956 3 / 1
P11021 78 kDa glucose-regulated protein Unclassified protein C00002525 0 / 0
O94782 Ubiquitin carboxyl-terminal hydrolase 1 Enzyme C00000956 0 / 0
P00734 Prothrombin S1A C00000956 4 / 2
P37231 Peroxisome proliferator-activated receptor gamma NR1C3 C00002525 5 / 3
P04745 Alpha-amylase 1 Enzyme C00000956 0 / 0
P08581 Hepatocyte growth factor receptor TK tyrosine-protein kinase MET subfamily C00000956 2 / 3
P28482 Mitogen-activated protein kinase 1 Erk C00000956 0 / 0
P10696 Alkaline phosphatase, placental-like Enzyme C00000956 0 / 1
P56817 Beta-secretase 1 A1A C00000956 0 / 0
P05177 Cytochrome P450 1A2 Cytochrome P450 1A2 C00000956 0 / 0
Q16790 Carbonic anhydrase 9 Lyase C00000956 0 / 1
P06746 DNA polymerase beta Enzyme C00000956 0 / 0
Q13093 Platelet-activating factor acetylhydrolase Enzyme C00000956 3 / 0
Q01453 Peripheral myelin protein 22 Unclassified protein C00000956 5 / 2
Q96QE3 ATPase family AAA domain-containing protein 5 Unclassified protein C00002507 0 / 0
P00374 Dihydrofolate reductase Oxidoreductase C00000956 1 / 1
P35372 Mu-type opioid receptor Opioid receptor C00000956 0 / 0
P19838 Nuclear factor NF-kappa-B p105 subunit Transcription Factor C00000956 0 / 0
P16050 Arachidonate 15-lipoxygenase Enzyme C00000956 0 / 0
P35354 Prostaglandin G/H synthase 2 Oxidoreductase C00000956 0 / 3
Q9UIF8 Bromodomain adjacent to zinc finger domain protein 2B Unclassified protein C00000956 0 / 0
Q9UNA4 DNA polymerase iota Enzyme C00000956 0 / 0
Q6W5P4 Neuropeptide S receptor Neuropeptide receptor C00000956 1 / 0
P27695 DNA-(apurinic or apyrimidinic site) lyase Enzyme C00000956 0 / 0
P22309 UDP-glucuronosyltransferase 1-1 Enzyme C00000956 5 / 1
P31639 Sodium/glucose cotransporter 2 Glucose C00002525 1 / 1
P43166 Carbonic anhydrase 7 Lyase C00000956 0 / 0
Q07869 Peroxisome proliferator-activated receptor alpha NR1C1 C00002525 0 / 0
P07451 Carbonic anhydrase 3 Lyase C00000956 0 / 0
P22748 Carbonic anhydrase 4 Lyase C00000956 1 / 1
P10415 Apoptosis regulator Bcl-2 Other cytosolic protein C00000956 0 / 7
Q9UBT6 DNA polymerase kappa Enzyme C00000956 0 / 0
P13866 Sodium/glucose cotransporter 1 Glucose C00002525 1 / 1
P46063 ATP-dependent DNA helicase Q1 Enzyme C00000956 0 / 0
Q96KQ7 Histone-lysine N-methyltransferase EHMT2 Enzyme C00000956 0 / 0
Q9NUW8 Tyrosyl-DNA phosphodiesterase 1 Enzyme C00000956 1 / 1
O75874 Isocitrate dehydrogenase [NADP] cytoplasmic Enzyme C00002507 1 / 0
P22310 UDP-glucuronosyltransferase 1-4 Enzyme C00000956 3 / 0
P33527 Multidrug resistance-associated protein 1 drugs C00002525 0 / 0
Q05513 Protein kinase C zeta type Iota C00000956 0 / 0
Q04759 Protein kinase C theta type Delta C00000956 0 / 1
Q02156 Protein kinase C epsilon type Eta C00000956 0 / 0
O94806 Serine/threonine-protein kinase D3 Pkd C00000956 0 / 0
P17252 Protein kinase C alpha type Alpha C00000956 0 / 0
Q05655 Protein kinase C delta type Delta C00000956 0 / 0
P05129 Protein kinase C gamma type Alpha C00000956 1 / 1
P05771 Protein kinase C beta type Alpha C00000956 0 / 0
P24723 Protein kinase C eta type Eta C00000956 1 / 0
P41743 Protein kinase C iota type Iota C00000956 0 / 0
Q15139 Serine/threonine-protein kinase D1 Pkd C00000956 0 / 0
O94925 Glutaminase kidney isoform, mitochondrial Enzyme C00002525 0 / 0
Q9H0H5 Rac GTPase-activating protein 1 Unclassified protein C00000956 0 / 0

14 Gene in CTD interactions

gene gene name gene description KNApSAcK metabolite in interactions
4363 ABCC1, ABC29, ABCC, GS-X, MRP, MRP1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 C00002507 C00002525
3091 HIF1A, HIF-1A, HIF-1alpha, HIF1, HIF1-ALPHA, MOP1, PASD8, bHLHe78 hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) C00002525
1543 CYP1A1, AHH, AHRR, CP11, CYP1, P1-450, P450-C, P450DX cytochrome P450, family 1, subfamily A, polypeptide 1 (EC:1.14.14.1) C00002525
1545 CYP1B1, CP1B, CYPIB1, GLC3A, P4501B1 cytochrome P450, family 1, subfamily B, polypeptide 1 (EC:1.14.14.1) C00002525
2056 EPO, EP, MVCD2 erythropoietin C00002525
2099 ESR1, ER, ESR, ESRA, ESTRR, Era, NR3A1 estrogen receptor 1 C00002525
2100 ESR2, ER-BETA, ESR-BETA, ESRB, ESTRB, Erb, NR3A2 estrogen receptor 2 (ER beta) C00002525
5243 ABCB1, ABC20, CD243, CLCS, GP170, MDR1, P-GP, PGY1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 (EC:3.6.3.44) C00002525
54658 UGT1A1, BILIQTL1, GNT1, HUG-BR1, UDPGT, UDPGT_1-1, UGT1, UGT1A UDP glucuronosyltransferase 1 family, polypeptide A1 (EC:2.4.1.17) C00002525
54575 UGT1A10, UDPGT, UGT-1J, UGT1-10, UGT1.10, UGT1J UDP glucuronosyltransferase 1 family, polypeptide A10 (EC:2.4.1.17) C00002525
54577 UGT1A7, UDPGT, UDPGT_1-7, UGT-1G, UGT1-07, UGT1.7, UGT1G UDP glucuronosyltransferase 1 family, polypeptide A7 (EC:2.4.1.17) C00002525
54576 UGT1A8, UDPGT, UDPGT_1-8, UGT-1H, UGT1-08, UGT1.8, UGT1A8S, UGT1H UDP glucuronosyltransferase 1 family, polypeptide A8 (EC:2.4.1.17) C00002525
54600 UGT1A9, HLUGP4, LUGP4, UDPGT, UDPGT_1-9, UGT-1I, UGT1-09, UGT1-9, UGT1.9, UGT1AI, UGT1I UDP glucuronosyltransferase 1 family, polypeptide A9 (EC:2.4.1.17) C00002525
3553 IL1B, IL-1, IL1-BETA, IL1F2 interleukin 1, beta C00007057

Related Diseases

Diseases related to proteins in ChEMBL interactions

OMIM (78)

OMIM preferred title UniProt
#300438 17-beta-hydroxysteroid dehydrogenase x deficiency Q99714
#202300 Adrenocortical carcinoma, hereditary; adcc P04637
#600807 Asthma, susceptibility to Q13093
#608584 Asthma-related traits, susceptibility to, 2 Q6W5P4
#614740 Basal cell carcinoma, susceptibility to, 7; bcc7 P04637
#601816 Bilirubin, serum level of, quantitative trait locus 1; biliqtl1 P22309
#210900 Bloom syndrome; blm P54132
%606641 Body mass index; bmi P37231
#114480 Breast cancer P38398
#604370 Breast-ovarian cancer, familial, susceptibility to, 1; brovca1 P38398
#609338 Carotid intimal medial thickness 1 P37231
#118300 Charcot-marie-tooth disease and deafness Q01453
#118220 Charcot-marie-tooth disease, demyelinating, type 1a; cmt1a Q01453
#114500 Colorectal cancer; crc P84022
#218800 Crigler-najjar syndrome, type i P22309
P22310
#606785 Crigler-najjar syndrome, type ii P22309
P22310
#119900 Digital clubbing, isolated congenital P15428
#609535 Drug metabolism, poor, cyp2c19-related P33261
#608902 Drug metabolism, poor, cyp2d6-related P10635
#133239 Esophageal cancer P04637
#600274 Frontotemporal dementia; ftd P10636
#143500 Gilbert syndrome P22309
P22310
#137800 Glioma susceptibility 1; glm1 O75874
P37231
#606824 Glucose/galactose malabsorption; ggm P13866
#232300 Glycogen storage disease ii P10253
#139393 Guillain-barre syndrome, familial; gbs Q01453
#605130 Hairy elbows, short stature, facial dysmorphism, and developmental delay Q03164
#114550 Hepatocellular carcinoma P08581
#237900 Hyperbilirubinemia, transient familial neonatal; hblrtfn P22309
#143860 Hyperchlorhidrosis, isolated O43570
#145000 Hyperparathyroidism 1; hrpt1 O00255
#603373 Hyperthyroidism, familial gestational P16473
#609152 Hyperthyroidism, nonautoimmune P16473
#145900 Hypertrophic neuropathy of dejerine-sottas Q01453
#259100 Hypertrophic osteoarthropathy, primary, autosomal recessive, 1; phoar1 P15428
#146300 Hypophosphatasia, adult P05186
#241510 Hypophosphatasia, childhood P05186
#241500 Hypophosphatasia, infantile P05186
#275200 Hypothyroidism, congenital, nongoitrous, 1; chng1 P16473
#147050 Ige responsiveness, atopic; iger Q13093
#151623 Li-fraumeni syndrome 1; lfs1 P04637
#604367 Lipodystrophy, familial partial, type 3; fpld3 P37231
#613795 Loeys-dietz syndrome, type 3; lds3 P84022
#211980 Lung cancer P04637
#613839 Megaloblastic anemia due to dihydrofolate reductase deficiency P00374
#300705 Mental retardation, x-linked 17; mrx17 Q99714
#300220 Mental retardation, x-linked, syndromic 10; mrxs10 Q99714
#131100 Multiple endocrine neoplasia, type i; men1 O00255
#607948 Mycobacterium tuberculosis, susceptibility to P11473
#162500 Neuropathy, hereditary, with liability to pressure palsies; hnpp Q01453
#257200 Niemann-pick disease, type a P17405
#607616 Niemann-pick disease, type b P17405
#601665 Obesity P37231
#259730 Osteopetrosis, autosomal recessive 3; optb3 P00918
#167000 Ovarian cancer P38398
#614320 Pancreatic cancer, susceptibility to, 4; pnca4 P38398
#260500 Papilloma of choroid plexus; cpp P04637
#260540 Parkinson-dementia syndrome P10636
#172700 Pick disease of brain P10636
#614278 Platelet-activating factor acetylhydrolase deficiency; pafad Q13093
#614390 Pregnancy loss, recurrent, susceptibility to, 2; rprgl2 P00734
#613679 Prothrombin deficiency, congenital P00734
#605074 Renal cell carcinoma, papillary, 1; rccp1 P08581
#233100 Renal glucosuria; glys1 P31639
#600852 Retinitis pigmentosa 17; rp17 P22748
#253300 Spinal muscular atrophy, type i; sma1 Q16637
#253550 Spinal muscular atrophy, type ii; sma2 Q16637
#253400 Spinal muscular atrophy, type iii; sma3 Q16637
#271150 Spinal muscular atrophy, type iv; sma4 Q16637
#605361 Spinocerebellar ataxia 14; sca14 P05129
#607250 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy; scan1 Q9NUW8
#275355 Squamous cell carcinoma, head and neck; hnscc P04637
#601367 Stroke, ischemic P00734
P24723
#601104 Supranuclear palsy, progressive, 1; psnp1 P10636
#188050 Thrombophilia due to thrombin defect; thph1 P00734
#277440 Vitamin d-dependent rickets, type 2a; vddr2a P11473
#278300 Xanthinuria, type i P47989
#278750 Xeroderma pigmentosum, variant type; xpv Q9Y253

KEGG DISEASE (86)

KEGG name UniProt
H00033 Adrenal carcinoma O00255 (related)
P04637 (related)
H00034 Carcinoid O00255 (related)
H00045 Malignant islet cell carcinoma O00255 (related)
H00246 Primary hyperparathyroidism O00255 (related)
H01102 Pituitary adenomas O00255 (related)
H01302 Hyperchlorhidrosis isolated (HCHLH) O43570 (related)
H00021 Renal cell carcinoma O43570 (marker)
P04637 (marker)
P08581 (related)
Q16790 (marker)
H01197 Dihydrofolate reductase (DHFR) deficiency P00374 (related)
H00223 Inherited thrombophilia P00734 (related)
H01254 Congenital prothrombin deficiency P00734 (related)
H00241 Combined proximal and distal renal tubular acidosis (RTA type 3) P00918 (related)
H00436 Osteopetrosis P00918 (related)
H00004 Chronic myeloid leukemia (CML) P04637 (related)
H00005 Chronic lymphocytic leukemia (CLL) P04637 (related)
P10415 (related)
P28907 (marker)
H00006 Hairy-cell leukemia P04637 (related)
H00008 Burkitt lymphoma P04637 (related)
H00009 Adult T-cell leukemia P04637 (related)
H00010 Multiple myeloma P04637 (related)
H00013 Small cell lung cancer P04637 (related)
P10415 (related)
H00014 Non-small cell lung cancer P04637 (related)
H00015 Malignant pleural mesothelioma P04637 (related)
H00016 Oral cancer P04637 (related)
P04637 (marker)
H00017 Esophageal cancer P04637 (related)
P04637 (marker)
P35354 (related)
H00018 Gastric cancer P04637 (related)
P08581 (related)
P10415 (related)
H00019 Pancreatic cancer P04637 (related)
P04637 (marker)
H00020 Colorectal cancer P04637 (related)
P04637 (marker)
H00022 Bladder cancer P04637 (related)
H00025 Penile cancer P04637 (related)
P04637 (marker)
P35354 (related)
H00026 Endometrial Cancer P04637 (related)
H00027 Ovarian cancer P04637 (related)
P38398 (related)
H00028 Choriocarcinoma P04637 (related)
P10415 (related)
H00029 Vulvar cancer P04637 (related)
H00031 Breast cancer P04637 (related)
P38398 (related)
H00032 Thyroid cancer P04637 (related)
P37231 (related)
H00036 Osteosarcoma P04637 (related)
P08684 (marker)
H00038 Malignant melanoma P04637 (related)
H00039 Basal cell carcinoma P04637 (related)
H00040 Squamous cell carcinoma P04637 (related)
H00041 Kaposi's sarcoma P04637 (related)
P10415 (related)
H00042 Glioma P04637 (related)
P04637 (marker)
H00044 Cancer of the anal canal P04637 (related)
H00046 Cholangiocarcinoma P04637 (related)
P08581 (related)
P35354 (related)
H00047 Gallbladder cancer P04637 (related)
H00048 Hepatocellular carcinoma P04637 (related)
H00055 Laryngeal cancer P04637 (related)
P04637 (marker)
H00881 Li-Fraumeni syndrome P04637 (related)
H01007 Choroid plexus papilloma P04637 (related)
H00063 Spinocerebellar ataxia (SCA) P05129 (related)
Q9NUW8 (related)
H00213 Hypophosphatasia P05186 (related)
H00069 Glycogen storage diseases (GSD) P10253 (related)
H00030 Cervical cancer P10415 (related)
H00054 Nasopharyngeal cancer P10415 (related)
H00058 Amyotrophic lateral sclerosis (ALS) P10636 (related)
H00077 Progressive supranuclear palsy (PSP) P10636 (related)
H00078 Frontotemporal lobar degeneration (FTLD) P10636 (related)
H00023 Testicular cancer P10696 (marker)
H00342 Tuberculosis P11473 (related)
H00784 Localized autosomal recessive hypotrichosis P11473 (related)
H01143 Vitamin D-dependent rickets P11473 (related)
H01205 Coumarin resistance P11712 (related)
H01261 Congenital glucose-galactose malabsorption (GGM) P13866 (related)
H00457 Primary hypertrophic osteoarthropathy (PHO) P15428 (related)
H01246 Isolated congenital nail clubbing (ICNC) P15428 (related)
H00250 Congenital nongoitrous hypothyroidism (CHNG) P16473 (related)
H01269 Congenital hyperthyroidism P16473 (related)
H00137 Niemann-Pick disease (NPD) typeA and B P17405 (related)
H00424 Defects in the degradation of sphingomyelin P17405 (related)
H00208 Hyperbilirubinemia P22309 (related)
H00527 Retinitis pigmentosa (RP) P22748 (related)
H01126 Familial renal glucosuria (FRG) P31639 (related)
H01171 Poor drug metabolism (PM) P33261 (related)
H00409 Type II diabetes mellitus P37231 (related)
H00420 Familial partial lipodystrophy (FPL) P37231 (related)
H00192 Xanthinuria P47989 (related)
H00094 DNA repair defects P54132 (related)
H00296 Defects in RecQ helicases P54132 (related)
H00264 Charcot-Marie-Tooth disease (CMT) Q01453 (related)
H01296 Hereditary neuropathy with liability to pressure palsies (HNPP) Q01453 (related)
H00001 Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia) Q03164 (related)
Q03164 (marker)
H00002 Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia) Q03164 (related)
H00408 Type I diabetes mellitus Q04759 (related)
H00455 Spinal muscular atrophy (SMA) Q16637 (related)
H00480 Non-syndromic X-linked mental retardation Q99714 (related)
H00658 Syndromic X-linked mental retardation Q99714 (related)
H00925 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency Q99714 (related)
H00403 Disorders of nucleotide excision repair Q9Y253 (related)