Species

KNApSAcK Entry

Organism name Picea glauca
Genus Picea
Family Pinaceae
Kingdom Plantae

NCBI taxonomy

Entry

Linked NCBI taxonomy name Picea glauca
Linked NCBI taxonomy ID 3330
Linked level species

Family

Family in NCBI taxonomy Pinaceae
ID 3318

Kingdom (Superkingdom)

Kingdom (Superkingdom) in NCBI taxonomy Viridiplantae
ID 33090

Plant class

Plant class Spermatophyta
ID 58024

Natural Activity

List (8)

Species Activity
Picea glauca (Moench.) Voss Antiseptic
Picea glauca (Moench.) Voss Depurative
Picea glauca (Moench.) Voss Diaphoretic
Picea glauca (Moench.) Voss Digestive
Picea glauca (Moench.) Voss Laxative
Picea glauca (Moench.) Voss Panacea
Picea glauca (Moench.) Voss Rubefacient
Picea glauca (Moench.) Voss Tonic

Metabolite list (4)

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
C00002870 External link 512 Astringin
/ (E)-Astringin
/ 3,4,3',5'-Tetrahydroxystilbene 3'-glucoside
CHEMBL358769
CHEMBL469920
No. 36 No. 13
C00002887 External link 512 Isorhapontigenin 3-O-beta-D-glucopyranoside
CHEMBL113339
No. 36 No. 13
C00002895 External link 512 Piceatannol
/ 3,3',4,5'-Tetrahydroxystilbene
CHEMBL69863
CHEMBL1603409
CHEMBL1972346
117 / 104 / 100 No. 295 No. 13
C00015797 External link 512 Isorhapotogenin
/ Isorhapotigenin
/ Isorhapontigenin
CHEMBL110370
No. 295 No. 13

Human Protein / Gene in interactions

117 ChEMBL Protein in interactions

accession description class description KNApSAcK metabolite in interactions # of diseases
(OMIM / KEGG)
P10635 Cytochrome P450 2D6 Cytochrome P450 2D6 C00002895 1 / 0
P42345 Serine/threonine-protein kinase mTOR Enzyme C00002895 0 / 0
Q02750 Dual specificity mitogen-activated protein kinase kinase 1 Ste7 C00002895 1 / 1
P04637 Cellular tumor antigen p53 Transcription Factor C00002895 7 / 37
P08922 Proto-oncogene tyrosine-protein kinase ROS TK tyrosine-protein kinase SEV C00002895 0 / 1
P49336 Cyclin-dependent kinase 8 Cdk8 C00002895 0 / 0
Q04771 Activin receptor type-1 TKL serine/threonine protein kinase STKR1 subfamily C00002895 1 / 1
Q16637 Survival motor neuron protein Unclassified protein C00002895 4 / 1
Q9UIF8 Bromodomain adjacent to zinc finger domain protein 2B Unclassified protein C00002895 0 / 0
Q99700 Ataxin-2 Unclassified protein C00002895 1 / 1
P49798 Regulator of G-protein signaling 4 Unclassified protein C00002895 2 / 0
P14618 Pyruvate kinase PKM Enzyme C00002895 0 / 0
P21728 D(1A) dopamine receptor Dopamine receptor C00002895 0 / 0
P06746 DNA polymerase beta Enzyme C00002895 0 / 0
P04062 Glucosylceramidase Enzyme C00002895 6 / 4
P29466 Caspase-1 C14 C00002895 0 / 0
Q04759 Protein kinase C theta type Delta C00002895 0 / 1
P28907 ADP-ribosyl cyclase 1 Enzyme C00002895 0 / 1
P27448 MAP/microtubule affinity-regulating kinase 3 CAMK serine/threonine protein kinase MARK subfamily C00002895 0 / 0
Q9UHD2 Serine/threonine-protein kinase TBK1 Ikk C00002895 1 / 0
P02545 Prelamin-A/C Unclassified protein C00002895 11 / 10
P55789 FAD-linked sulfhydryl oxidase ALR Enzyme C00002895 1 / 0
P10828 Thyroid hormone receptor beta NR1A2 C00002895 3 / 1
P11309 Serine/threonine-protein kinase pim-1 Pim C00002895 0 / 0
P48729 Casein kinase I isoform alpha Ck1 C00002895 0 / 0
P16234 Platelet-derived growth factor receptor alpha Pdgfr C00002895 2 / 1
P11712 Cytochrome P450 2C9 Cytochrome P450 2C9 C00002895 0 / 1
Q06187 Tyrosine-protein kinase BTK Tec C00002895 2 / 2
Q14680 Maternal embryonic leucine zipper kinase Melk C00002895 0 / 0
P29376 Leukocyte tyrosine kinase receptor Alk C00002895 0 / 0
P54132 Bloom syndrome protein Enzyme C00002895 1 / 2
Q9NR56 Muscleblind-like protein 1 Unclassified protein C00002895 1 / 0
Q15746 Myosin light chain kinase, smooth muscle Mlck C00002895 1 / 1
Q13188 Serine/threonine-protein kinase 3 STE serine/threonine protein kinase MST subfamily C00002895 0 / 0
Q13464 Rho-associated protein kinase 1 Rock C00002895 0 / 0
O15296 Arachidonate 15-lipoxygenase B Enzyme C00002895 0 / 0
P17948 Vascular endothelial growth factor receptor 1 Vegfr C00002895 0 / 0
P00352 Retinal dehydrogenase 1 Enzyme C00002895 0 / 0
P17405 Sphingomyelin phosphodiesterase Enzyme C00002895 2 / 2
Q02779 Mitogen-activated protein kinase kinase kinase 10 TKL dual-specificity kinase MLK C00002895 0 / 0
Q9UQM7 Calcium/calmodulin-dependent protein kinase type II subunit alpha Camk2 C00002895 0 / 0
P36888 Receptor-type tyrosine-protein kinase FLT3 Pdgfr C00002895 1 / 1
Q16665 Hypoxia-inducible factor 1-alpha Transcription Factor C00002895 0 / 0
Q8IXJ6 NAD-dependent protein deacetylase sirtuin-2 Enzyme C00002895 0 / 0
P39748 Flap endonuclease 1 Enzyme C00002895 0 / 0
Q92830 Histone acetyltransferase KAT2A Enzyme C00002895 0 / 0
Q9Y463 Dual specificity tyrosine-phosphorylation-regulated kinase 1B CMGC dual-specificity kinase DYRK1 C00002895 0 / 0
O95819 Mitogen-activated protein kinase kinase kinase kinase 4 STE serine/threonine protein kinase MSN subfamily C00002895 0 / 0
Q9HBY8 Serine/threonine-protein kinase Sgk2 AGC serine/threonine protein kinase SGK subfamily C00002895 0 / 0
O75496 Geminin Unclassified protein C00002895 0 / 0
P51151 Ras-related protein Rab-9A Unclassified protein C00002895 0 / 0
P38398 Breast cancer type 1 susceptibility protein Enzyme C00002895 4 / 2
P49841 Glycogen synthase kinase-3 beta Gsk C00002895 0 / 0
Q05397 Focal adhesion kinase 1 Fak C00002895 0 / 0
P53779 Mitogen-activated protein kinase 10 Jnk C00002895 0 / 1
Q14164 Inhibitor of nuclear factor kappa-B kinase subunit epsilon Other serine/threonine protein kinase C00002895 0 / 0
Q96RR4 Calcium/calmodulin-dependent protein kinase kinase 2 META serine/threonine protein kinase subfamily C00002895 0 / 0
Q9UM73 ALK tyrosine kinase receptor TKL serine/threonine protein kinase STKR type 1 subfamily C00002895 1 / 1
Q9Y253 DNA polymerase eta Enzyme C00002895 1 / 1
Q9Y468 Lethal(3)malignant brain tumor-like protein 1 Unclassified protein C00002895 0 / 0
P83916 Chromobox protein homolog 1 Unclassified protein C00002895 0 / 0
Q9HC16 DNA dC->dU-editing enzyme APOBEC-3G Enzyme C00002895 0 / 0
P11021 78 kDa glucose-regulated protein Unclassified protein C00002895 0 / 0
P34947 G protein-coupled receptor kinase 5 AGC serine/threonine protein kinase GRK subfamily C00002895 0 / 0
P12931 Proto-oncogene tyrosine-protein kinase Src Src C00002895 0 / 0
O60674 Tyrosine-protein kinase JAK2 Jakb C00002895 5 / 1
P35968 Vascular endothelial growth factor receptor 2 Vegfr C00002895 1 / 0
P18054 Arachidonate 12-lipoxygenase, 12S-type Enzyme C00002895 2 / 0
P05177 Cytochrome P450 1A2 Cytochrome P450 1A2 C00002895 0 / 0
Q99714 3-hydroxyacyl-CoA dehydrogenase type-2 Enzyme C00002895 3 / 3
Q06418 Tyrosine-protein kinase receptor TYRO3 TK tyrosine-protein kinase AXL C00002895 0 / 0
Q7L7X3 Serine/threonine-protein kinase TAO1 STE serine/threonine protein kinase TAO subfamily C00002895 0 / 0
Q9H0K1 Serine/threonine-protein kinase SIK2 CAMK serine/threonine protein kinase QIK subfamily C00002895 0 / 0
P15428 15-hydroxyprostaglandin dehydrogenase [NAD(+)] Enzyme C00002895 2 / 2
O15118 Niemann-Pick C1 protein Unclassified protein C00002895 1 / 1
Q01453 Peripheral myelin protein 22 Unclassified protein C00002895 5 / 2
Q96QE3 ATPase family AAA domain-containing protein 5 Unclassified protein C00002895 0 / 0
P11362 Fibroblast growth factor receptor 1 Fgfr C00002895 4 / 5
P49840 Glycogen synthase kinase-3 alpha Gsk C00002895 0 / 0
O75116 Rho-associated protein kinase 2 Rock C00002895 0 / 0
P08631 Tyrosine-protein kinase HCK Src C00002895 0 / 0
P16050 Arachidonate 15-lipoxygenase Enzyme C00002895 0 / 0
P51812 Ribosomal protein S6 kinase alpha-3 Rskb C00002895 2 / 2
P07333 Macrophage colony-stimulating factor 1 receptor Pdgfr C00002895 1 / 1
P33261 Cytochrome P450 2C19 Cytochrome P450 2C19 C00002895 1 / 1
P08684 Cytochrome P450 3A4 Cytochrome P450 3A4 C00002895 0 / 1
Q8IU85 Calcium/calmodulin-dependent protein kinase type 1D Camk1 C00002895 0 / 0
P07949 Proto-oncogene tyrosine-protein kinase receptor Ret Ret C00002895 9 / 4
Q9UNA4 DNA polymerase iota Enzyme C00002895 0 / 0
Q15046 Lysine--tRNA ligase Enzyme C00002895 2 / 1
O75164 Lysine-specific demethylase 4A Enzyme C00002895 0 / 0
P27695 DNA-(apurinic or apyrimidinic site) lyase Enzyme C00002895 0 / 0
P10636 Microtubule-associated protein tau Unclassified protein C00002895 4 / 3
Q99549 M-phase phosphoprotein 8 Unclassified protein C00002895 0 / 0
Q16236 Nuclear factor erythroid 2-related factor 2 Unclassified protein C00002895 0 / 0
Q5S007 Leucine-rich repeat serine/threonine-protein kinase 2 TKL serine/threonine protein kinase LRRK subfamily C00002895 2 / 2
P06239 Tyrosine-protein kinase Lck Src C00002895 0 / 1
P52333 Tyrosine-protein kinase JAK3 Jakb C00002895 1 / 1
P43405 Tyrosine-protein kinase SYK Syk C00002895 0 / 0
P17612 cAMP-dependent protein kinase catalytic subunit alpha Pka C00002895 0 / 0
Q13627 Dual specificity tyrosine-phosphorylation-regulated kinase 1A CMGC dual-specificity kinase DYRK1 C00002895 1 / 0
P49760 Dual specificity protein kinase CLK2 Clk C00002895 0 / 0
Q07912 Activated CDC42 kinase 1 TK tyrosine-protein kinase ACK subfamily C00002895 0 / 0
Q9UBT6 DNA polymerase kappa Enzyme C00002895 0 / 0
Q96L34 MAP/microtubule affinity-regulating kinase 4 CAMK serine/threonine protein kinase MARK subfamily C00002895 0 / 0
P51817 cAMP-dependent protein kinase catalytic subunit PRKX Pka C00002895 0 / 0
B2RXH2 Lysine-specific demethylase 4E Enzyme C00002895 0 / 0
P40225 Thrombopoietin Unclassified protein C00002895 1 / 1
Q96KQ7 Histone-lysine N-methyltransferase EHMT2 Enzyme C00002895 0 / 0
Q9NUW8 Tyrosyl-DNA phosphodiesterase 1 Enzyme C00002895 1 / 1
O75874 Isocitrate dehydrogenase [NADP] cytoplasmic Enzyme C00002895 1 / 0
O00255 Menin Unclassified protein C00002895 2 / 5
Q03164 Histone-lysine N-methyltransferase 2A Enzyme C00002895 1 / 2
Q13951 Core-binding factor subunit beta Unclassified protein C00002895 0 / 1
Q01196 Runt-related transcription factor 1 Unclassified protein C00002895 1 / 4
O94925 Glutaminase kidney isoform, mitochondrial Enzyme C00002895 0 / 0
Q9HCT0 Fibroblast growth factor 22 Unclassified protein C00002895 0 / 0

Related Diseases

Diseases related to proteins in ChEMBL interactions

OMIM (104)

OMIM preferred title UniProt
#300438 17-beta-hydroxysteroid dehydrogenase x deficiency Q99714
#202300 Adrenocortical carcinoma, hereditary; adcc P04637
#300755 Agammaglobulinemia, x-linked; xla Q06187
#613780 Aortic aneurysm, familial thoracic 7; aat7 Q15746
#614740 Basal cell carcinoma, susceptibility to, 7; bcc7 P04637
#210900 Bloom syndrome; blm P54132
#114480 Breast cancer P38398
#604370 Breast-ovarian cancer, familial, susceptibility to, 1; brovca1 P38398
#600880 Budd-chiari syndrome; bdchs O60674
#615279 Cardiofaciocutaneous syndrome 3; cfc3 Q02750
#115200 Cardiomyopathy, dilated, 1a; cmd1a P02545
#212112 Cardiomyopathy, dilated, with hypergonadotropic hypogonadism P02545
#209880 Central hypoventilation syndrome, congenital; cchs P07949
#118300 Charcot-marie-tooth disease and deafness Q01453
#605588 Charcot-marie-tooth disease, axonal, type 2b1; cmt2b1 P02545
#118220 Charcot-marie-tooth disease, demyelinating, type 1a; cmt1a Q01453
#613641 Charcot-marie-tooth disease, recessive intermediate b; cmtrib Q15046
#303600 Coffin-lowry syndrome; cls P51812
#114500 Colorectal cancer; crc P07949
P18054
#613916 Deafness, autosomal recessive 89; dfnb89 Q15046
#119900 Digital clubbing, isolated congenital P15428
#609535 Drug metabolism, poor, cyp2c19-related P33261
#608902 Drug metabolism, poor, cyp2d6-related P10635
#181350 Emery-dreifuss muscular dystrophy 2, autosomal dominant; edmd2 P02545
#133239 Esophageal cancer P04637
P18054
#135100 Fibrodysplasia ossificans progressiva; fop Q04771
#600274 Frontotemporal dementia; ftd P10636
#606764 Gastrointestinal stromal tumor; gist P16234
#608013 Gaucher disease, perinatal lethal P04062
#230800 Gaucher disease, type i P04062
#230900 Gaucher disease, type ii P04062
#231000 Gaucher disease, type iii P04062
#231005 Gaucher disease, type iiic P04062
#177700 Glaucoma 1, open angle, p; glc1p Q9UHD2
#137800 Glioma susceptibility 1; glm1 O75874
#139393 Guillain-barre syndrome, familial; gbs Q01453
#605130 Hairy elbows, short stature, facial dysmorphism, and developmental delay Q03164
#610140 Heart-hand syndrome, slovenian type P02545
#602089 Hemangioma, capillary infantile P35968
#142623 Hirschsprung disease, susceptibility to, 1; hscr1 P07949
#176670 Hutchinson-gilford progeria syndrome; hgps P02545
#607685 Hypereosinophilic syndrome, idiopathic; hes P16234
#145000 Hyperparathyroidism 1; hrpt1 O00255
#145900 Hypertrophic neuropathy of dejerine-sottas Q01453
#259100 Hypertrophic osteoarthropathy, primary, autosomal recessive, 1; phoar1 P15428
#147950 Hypogonadotropic hypogonadism 2 with or without anosmia; hh2 P11362
#307200 Isolated growth hormone deficiency, type iii; ighd3 Q06187
#601626 Leukemia, acute myeloid; aml O60674
P36888
#221820 Leukoencephalopathy, diffuse hereditary, with spheroids; hdls P07333
#151623 Li-fraumeni syndrome 1; lfs1 P04637
#151660 Lipodystrophy, familial partial, type 2; fpld2 P02545
#211980 Lung cancer P04637
#248370 Mandibuloacral dysplasia with type a lipodystrophy; mada P02545
#614104 Mental retardation, autosomal dominant 7; mrd7 Q13627
#300705 Mental retardation, x-linked 17; mrx17 Q99714
#300844 Mental retardation, x-linked 19; mrx19 P51812
#300220 Mental retardation, x-linked, syndromic 10; mrxs10 Q99714
#131100 Multiple endocrine neoplasia, type i; men1 O00255
#171400 Multiple endocrine neoplasia, type iia; men2a P07949
#162300 Multiple endocrine neoplasia, type iib; men2b P07949
#613205 Muscular dystrophy, congenital, lmna-related P02545
#159001 Muscular dystrophy, limb-girdle, type 1b; lgmd1b P02545
#254450 Myelofibrosis O60674
#613076 Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay P55789
#160900 Myotonic dystrophy 1; dm1 Q9NR56
#613014 Neuroblastoma, susceptibility to, 3; nblst3 Q9UM73
#162500 Neuropathy, hereditary, with liability to pressure palsies; hnpp Q01453
#257200 Niemann-pick disease, type a P17405
#607616 Niemann-pick disease, type b P17405
#257220 Niemann-pick disease, type c1; npc1 O15118
#166250 Osteoglophonic dysplasia; ogd P11362
#167000 Ovarian cancer P38398
#614320 Pancreatic cancer, susceptibility to, 4; pnca4 P38398
#260500 Papilloma of choroid plexus; cpp P04637
#607060 Parkinson disease 8, autosomal dominant; park8 Q5S007
#168600 Parkinson disease, late-onset; pd P04062
Q5S007
#260540 Parkinson-dementia syndrome P10636
#101600 Pfeiffer syndrome P11362
#171300 Pheochromocytoma P07949
#172700 Pick disease of brain P10636
#601399 Platelet disorder, familial, with associated myeloid malignancy Q01196
#263300 Polycythemia vera; pv O60674
#191830 Renal adysplasia P07949
#275210 Restrictive dermopathy, lethal P02545
#604906 Schizophrenia 9; sczd9 P49798
#181500 Schizophrenia; sczd P49798
#600802 Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative P52333
#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
#183090 Spinocerebellar ataxia 2; sca2 Q99700
#607250 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy; scan1 Q9NUW8
#275355 Squamous cell carcinoma, head and neck; hnscc P04637
#601104 Supranuclear palsy, progressive, 1; psnp1 P10636
#187950 Thrombocythemia 1; thcyt1 P40225
#614521 Thrombocythemia 3; thcyt3 O60674
#155240 Thyroid carcinoma, familial medullary; mtc P07949
#188550 Thyroid carcinoma, papillary P07949
#188570 Thyroid hormone resistance, generalized, autosomal dominant; grth P10828
#274300 Thyroid hormone resistance, generalized, autosomal recessive; grth P10828
#145650 Thyroid hormone resistance, selective pituitary; prth P10828
#190440 Trigonocephaly 1; trigno1 P11362
#278750 Xeroderma pigmentosum, variant type; xpv Q9Y253

KEGG DISEASE (100)

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)
H00136 Niemann-Pick disease type C (NPC) O15118 (related)
H00012 Polycythemia vera O60674 (related)
O60674 (marker)
H00264 Charcot-Marie-Tooth disease (CMT) P02545 (related)
Q01453 (related)
Q15046 (related)
H00294 Dilated cardiomyopathy (DCM) P02545 (related)
H00420 Familial partial lipodystrophy (FPL) P02545 (related)
H00563 Emery-Dreifuss muscular dystrophy P02545 (related)
H00590 Congenital muscular dystrophies (CMD/MDC) P02545 (related)
H00593 Limb-girdle muscular dystrophy (LGMD) P02545 (related)
H00601 Hutchinson-Gilford progeria syndrome P02545 (related)
H00663 Restrictive dermopathy P02545 (related)
H00665 Mandibuloacral dysplasia P02545 (related)
H01216 Left ventricular noncompaction (LVNC) P02545 (related)
H00066 Lewy body dementia (LBD) P04062 (related)
Q5S007 (related)
H00126 Gaucher disease P04062 (related)
H00426 Defects in the degradation of ganglioside P04062 (related)
H00810 Progressive myoclonic epilepsy (PME) P04062 (related)
H00004 Chronic myeloid leukemia (CML) P04637 (related)
Q01196 (related)
H00005 Chronic lymphocytic leukemia (CLL) P04637 (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)
H00014 Non-small cell lung cancer P04637 (related)
P08922 (related)
Q9UM73 (related)
H00015 Malignant pleural mesothelioma P04637 (related)
H00016 Oral cancer P04637 (related)
P04637 (marker)
H00017 Esophageal cancer P04637 (related)
P04637 (marker)
H00018 Gastric cancer P04637 (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)
H00026 Endometrial Cancer P04637 (related)
H00027 Ovarian cancer P04637 (related)
P38398 (related)
H00028 Choriocarcinoma P04637 (related)
P07333 (related)
H00029 Vulvar cancer P04637 (related)
H00031 Breast cancer P04637 (related)
P38398 (related)
H00032 Thyroid cancer P04637 (related)
P07949 (related)
P07949 (marker)
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)
H00042 Glioma P04637 (related)
P04637 (marker)
P16234 (related)
H00044 Cancer of the anal canal P04637 (related)
H00046 Cholangiocarcinoma P04637 (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)
H00021 Renal cell carcinoma P04637 (marker)
H00093 Combined immunodeficiencies (CIDs) P06239 (related)
H00822 Renal agenesis and Renal adysplasia P07949 (related)
H00910 Hirschsprung disease (HD) P07949 (related)
H00916 Congenital central hypoventilation syndrome (CCHS) P07949 (related)
H00058 Amyotrophic lateral sclerosis (ALS) P10636 (related)
H00077 Progressive supranuclear palsy (PSP) P10636 (related)
H00078 Frontotemporal lobar degeneration (FTLD) P10636 (related)
H00249 Thyroid hormone resistance syndrome P10828 (related)
H00255 Hypogonadotropic hypogonadism P11362 (related)
H00443 Osteoglophonic dysplasia (OD) P11362 (related)
H00458 Craniosynostosis P11362 (related)
H00516 Isolated orofacial clefts P11362 (related)
H01207 Trigonocephaly P11362 (related)
H01205 Coumarin resistance P11712 (related)
H00457 Primary hypertrophic osteoarthropathy (PHO) P15428 (related)
H01246 Isolated congenital nail clubbing (ICNC) P15428 (related)
H00137 Niemann-Pick disease (NPD) typeA and B P17405 (related)
H00424 Defects in the degradation of sphingomyelin P17405 (related)
H01171 Poor drug metabolism (PM) P33261 (related)
H00003 Acute myeloid leukemia (AML) P36888 (related)
Q01196 (related)
Q01196 (marker)
Q13951 (marker)
H00227 Congenital amegakaryocytic thrombocytopenia (CAMT) P40225 (marker)
H00480 Non-syndromic X-linked mental retardation P51812 (related)
Q99714 (related)
H00574 Coffin-Lowry syndrome (CLS) P51812 (related)
H00091 T-B+Severe combined immunodeficiencies (SCIDs) P52333 (related)
H00606 Early infantile epileptic encephalopathy P53779 (related)
H00094 DNA repair defects P54132 (related)
H00296 Defects in RecQ helicases P54132 (related)
H00001 Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia) Q01196 (related)
Q01196 (marker)
Q03164 (related)
Q03164 (marker)
H00978 Thrombocytopenia (THC) Q01196 (related)
H01296 Hereditary neuropathy with liability to pressure palsies (HNPP) Q01453 (related)
H00523 Noonan syndrome and related disorders Q02750 (related)
H00002 Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia) Q03164 (related)
H00408 Type I diabetes mellitus Q04759 (related)
H00430 Fibrodysplasia ossificans progressiva (FOP) Q04771 (related)
Q04771 (marker)
H00085 Agammaglobulinemias Q06187 (related)
H00254 Pituitary Dwarfism (PD) Q06187 (related)
H00801 Familial thoracic aortic aneurysm and dissection (TAAD) Q15746 (related)
H00455 Spinal muscular atrophy (SMA) Q16637 (related)
H00057 Parkinson's disease (PD) Q5S007 (related)
H00063 Spinocerebellar ataxia (SCA) Q99700 (related)
Q9NUW8 (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)