Species

KNApSAcK Entry

Organism name Pachyrhizus tuberosus
Genus Pachyrhizus
Family Fabaceae
Kingdom Plantae

NCBI taxonomy

Entry

Linked NCBI taxonomy name Pachyrhizus tuberosus
Linked NCBI taxonomy ID 205481
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

Natural Activity

List (4)

Species Activity
Pachyrhizus tuberosus (Lam.) Spreng. Diuretic
Pachyrhizus tuberosus (Lam.) Spreng. Piscicide
Pachyrhizus tuberosus (Lam.) Spreng. Poison
Pachyrhizus tuberosus (Lam.) Spreng. Purgative

Metabolite list (8)

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
C00020091 External link 512 Delphinidine
CHEMBL276780
1 / 0 / 1 No. 71 No. 15
C00019423 External link 512 1,2,12,12a-Tetrahydro-2-isopropenyl-8,9-dimethoxy-[1]benzopyrano[3,4-b]furo[2,3-h][1]benzopyran-6(6aH)-one
CHEMBL429023
CHEMBL267461
CHEMBL418710
CHEMBL1518927
129 / 92 / 86 No. 281 No. 15
C00009568 External link 512 Dolineone
/ Dolichone
No. 420 No. 15
C00009582 External link 512 12a-Hydroxydolineone
No. 420 No. 15
C00009570 External link 512 Erosone
/ Isoelliptone
No. 420 No. 15
C00009548 External link 512 Neotenone
/ Neorautenone
CHEMBL1988403
No. 420 No. 15
C00019422 External link 512 6-(2,4,5-Trimethoxyphenyl)-7H-furo[3,2-g][1]benzopyran-7-one
No. 473
C00009783 External link 512 Neorautone
/ Pachyrrhizin
CHEMBL479689
6 / 3 / 4 No. 473

Human Protein / Gene in interactions

133 ChEMBL Protein in interactions

accession description class description KNApSAcK metabolite in interactions # of diseases
(OMIM / KEGG)
P29466 Caspase-1 C14 C00009783 C00019423 0 / 0
P08684 Cytochrome P450 3A4 Cytochrome P450 3A4 C00009783 C00019423 0 / 1
O94782 Ubiquitin carboxyl-terminal hydrolase 1 Enzyme C00009783 C00019423 0 / 0
P03372 Estrogen receptor NR3A1 C00019423 1 / 1
Q99700 Ataxin-2 Unclassified protein C00019423 1 / 1
P49798 Regulator of G-protein signaling 4 Unclassified protein C00019423 2 / 0
P21728 D(1A) dopamine receptor Dopamine receptor C00019423 0 / 0
P35354 Prostaglandin G/H synthase 2 Oxidoreductase C00019423 0 / 3
Q12809 Potassium voltage-gated channel subfamily H member 2 KCNH, Kv10-12.x (Ether-a-go-go) C00019423 2 / 2
P08246 Neutrophil elastase S1A C00019423 2 / 1
P33765 Adenosine receptor A3 Adenosine receptor C00019423 0 / 0
Q16539 Mitogen-activated protein kinase 14 p38 C00019423 0 / 0
P06746 DNA polymerase beta Enzyme C00019423 0 / 0
P49146 Neuropeptide Y receptor type 2 Neuropeptide Y receptor C00019423 0 / 0
P10635 Cytochrome P450 2D6 Cytochrome P450 2D6 C00019423 1 / 0
P17252 Protein kinase C alpha type Alpha C00019423 0 / 0
P27361 Mitogen-activated protein kinase 3 Erk C00019423 0 / 0
Q03181 Peroxisome proliferator-activated receptor delta NR1C2 C00019423 0 / 0
P14780 Matrix metalloproteinase-9 M10A C00019423 2 / 2
P28907 ADP-ribosyl cyclase 1 Enzyme C00020091 0 / 1
O75604 Ubiquitin carboxyl-terminal hydrolase 2 Enzyme C00019423 0 / 0
P02545 Prelamin-A/C Unclassified protein C00019423 11 / 10
P16473 Thyrotropin receptor Glycohormone receptor C00019423 3 / 2
P10828 Thyroid hormone receptor beta NR1A2 C00019423 3 / 1
P19793 Retinoic acid receptor RXR-alpha NR2B1 C00019423 0 / 0
P00918 Carbonic anhydrase 2 Lyase C00019423 1 / 2
P07550 Beta-2 adrenergic receptor Adrenergic receptor C00019423 0 / 1
P21397 Amine oxidase [flavin-containing] A Oxidoreductase C00019423 1 / 1
P25021 Histamine H2 receptor Histamine receptor C00019423 0 / 0
P35367 Histamine H1 receptor Histamine receptor C00019423 0 / 0
Q01959 Sodium-dependent dopamine transporter Dopamine C00019423 1 / 0
P08912 Muscarinic acetylcholine receptor M5 Acetylcholine receptor C00019423 0 / 0
P18825 Alpha-2C adrenergic receptor Adrenergic receptor C00019423 0 / 0
P13945 Beta-3 adrenergic receptor Adrenergic receptor C00019423 0 / 0
P25024 C-X-C chemokine receptor type 1 CXC chemokine receptor C00019423 0 / 0
P06241 Tyrosine-protein kinase Fyn Src C00019423 0 / 0
P06493 Cyclin-dependent kinase 1 Cdc2 C00019423 0 / 0
Q08209 Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform Ser_Thr C00019423 0 / 0
P11712 Cytochrome P450 2C9 Cytochrome P450 2C9 C00019423 0 / 1
P54132 Bloom syndrome protein Enzyme C00019423 1 / 2
P00533 Epidermal growth factor receptor TK tyrosine-protein kinase EGFR subfamily C00019423 1 / 8
P14416 D(2) dopamine receptor Dopamine receptor C00019423 2 / 0
P23219 Prostaglandin G/H synthase 1 Oxidoreductase C00019423 0 / 0
P37288 Vasopressin V1a receptor Vasopressin and oxytocin receptor C00019423 0 / 0
P41145 Kappa-type opioid receptor Opioid receptor C00019423 0 / 0
Q9Y271 Cysteinyl leukotriene receptor 1 Leukotriene receptor C00019423 0 / 0
P29274 Adenosine receptor A2a Adenosine receptor C00019423 0 / 0
P25929 Neuropeptide Y receptor type 1 Neuropeptide Y receptor C00019423 0 / 0
P50052 Type-2 angiotensin II receptor Angiotensin receptor C00019423 1 / 1
P17948 Vascular endothelial growth factor receptor 1 Vegfr C00019423 0 / 0
P41968 Melanocortin receptor 3 Melanocortin receptor C00019423 1 / 0
P00352 Retinal dehydrogenase 1 Enzyme C00019423 0 / 0
P11509 Cytochrome P450 2A6 Cytochrome P450 2A6 C00019423 0 / 0
Q16665 Hypoxia-inducible factor 1-alpha Transcription Factor C00019423 0 / 0
O75496 Geminin Unclassified protein C00019423 0 / 0
P51151 Ras-related protein Rab-9A Unclassified protein C00019423 0 / 0
P23528 Cofilin-1 Unclassified protein C00019423 0 / 0
P04035 3-hydroxy-3-methylglutaryl-coenzyme A reductase Oxidoreductase C00019423 0 / 0
P08913 Alpha-2A adrenergic receptor Adrenergic receptor C00019423 0 / 0
P21917 D(4) dopamine receptor Dopamine receptor C00019423 0 / 0
P30988 Calcitonin receptor Calcitonin receptor C00019423 0 / 0
P35462 D(3) dopamine receptor Dopamine receptor C00019423 1 / 0
P41143 Delta-type opioid receptor Opioid receptor C00019423 0 / 0
Q92731 Estrogen receptor beta NR3A2 C00019423 0 / 1
P41595 5-hydroxytryptamine receptor 2B Serotonin receptor C00019423 0 / 0
P25101 Endothelin-1 receptor Endothelin receptor C00019423 0 / 0
P30411 B2 bradykinin receptor Bradykinin receptor C00019423 0 / 0
P32245 Melanocortin receptor 4 Melanocortin receptor C00019423 1 / 0
P32238 Cholecystokinin receptor type A Cholecystokinin receptor C00019423 0 / 0
P08311 Cathepsin G S1A C00019423 0 / 0
Q99720 Sigma non-opioid intracellular receptor 1 Membrane receptor C00019423 1 / 0
P03956 Interstitial collagenase M10A C00019423 0 / 1
P32241 Vasoactive intestinal polypeptide receptor 1 Vasoactive intestinal peptide receptor C00019423 0 / 0
P83916 Chromobox protein homolog 1 Unclassified protein C00019423 0 / 0
P04637 Cellular tumor antigen p53 Transcription Factor C00019423 7 / 37
P04150 Glucocorticoid receptor NR3C1 C00019423 0 / 1
P08172 Muscarinic acetylcholine receptor M2 Acetylcholine receptor C00019423 2 / 0
P11229 Muscarinic acetylcholine receptor M1 Acetylcholine receptor C00019423 0 / 0
P21554 Cannabinoid receptor 1 Cannabinoid receptor C00019423 0 / 0
P31645 Sodium-dependent serotonin transporter Serotonin C00019423 2 / 0
P37231 Peroxisome proliferator-activated receptor gamma NR1C3 C00019423 5 / 3
P04626 Receptor tyrosine-protein kinase erbB-2 TK tyrosine-protein kinase EGFR subfamily C00019423 5 / 9
P20309 Muscarinic acetylcholine receptor M3 Acetylcholine receptor C00019423 1 / 0
P21452 Substance-K receptor Neurokinin receptor C00019423 0 / 0
P51679 C-C chemokine receptor type 4 CC chemokine receptor C00019423 0 / 0
P51681 C-C chemokine receptor type 5 CC chemokine receptor C00019423 3 / 0
P50406 5-hydroxytryptamine receptor 6 Serotonin receptor C00019423 0 / 0
P41597 C-C chemokine receptor type 2 CC chemokine receptor C00019423 1 / 0
P28482 Mitogen-activated protein kinase 1 Erk C00019423 0 / 0
P08575 Receptor-type tyrosine-protein phosphatase C Enzyme C00019423 2 / 1
P05177 Cytochrome P450 1A2 Cytochrome P450 1A2 C00019423 0 / 0
P03905 NADH-ubiquinone oxidoreductase chain 4 Oxidoreductase C00019423 3 / 1
Q99714 3-hydroxyacyl-CoA dehydrogenase type-2 Enzyme C00009783 3 / 3
Q92887 Canalicular multispecific organic anion transporter 1 Unclassified protein C00019423 1 / 1
P15428 15-hydroxyprostaglandin dehydrogenase [NAD(+)] Enzyme C00019423 2 / 2
O15118 Niemann-Pick C1 protein Unclassified protein C00019423 1 / 1
Q01453 Peripheral myelin protein 22 Unclassified protein C00019423 5 / 2
Q96QE3 ATPase family AAA domain-containing protein 5 Unclassified protein C00019423 0 / 0
O76074 cGMP-specific 3',5'-cyclic phosphodiesterase PDE_5A C00019423 0 / 0
Q16637 Survival motor neuron protein Unclassified protein C00019423 4 / 1
P08588 Beta-1 adrenergic receptor Adrenergic receptor C00019423 1 / 0
P22303 Acetylcholinesterase Hydrolase C00019423 1 / 0
P28223 5-hydroxytryptamine receptor 2A Serotonin receptor C00019423 0 / 0
P28335 5-hydroxytryptamine receptor 2C Serotonin receptor C00019423 0 / 0
P35372 Mu-type opioid receptor Opioid receptor C00019423 0 / 0
P08173 Muscarinic acetylcholine receptor M4 Acetylcholine receptor C00019423 0 / 0
P25103 Substance-P receptor Neurokinin receptor C00019423 0 / 0
P25105 Platelet-activating factor receptor PAF receptor C00019423 0 / 0
P33032 Melanocortin receptor 5 Melanocortin receptor C00019423 0 / 0
P55210 Caspase-7 C14 C00009783 0 / 0
P33261 Cytochrome P450 2C19 Cytochrome P450 2C19 C00019423 1 / 1
P42345 Serine/threonine-protein kinase mTOR Enzyme C00019423 0 / 0
P05181 Cytochrome P450 2E1 Cytochrome P450 2E1 C00019423 0 / 0
Q9UNA4 DNA polymerase iota Enzyme C00019423 0 / 0
Q6W5P4 Neuropeptide S receptor Neuropeptide receptor C00019423 1 / 0
P10636 Microtubule-associated protein tau Unclassified protein C00019423 4 / 3
Q99549 M-phase phosphoprotein 8 Unclassified protein C00019423 0 / 0
Q16236 Nuclear factor erythroid 2-related factor 2 Unclassified protein C00019423 0 / 0
P10275 Androgen receptor NR3C4 C00019423 3 / 4
P23975 Sodium-dependent noradrenaline transporter Norepinephrine C00019423 1 / 1
P25100 Alpha-1D adrenergic receptor Adrenergic receptor C00019423 0 / 0
P30542 Adenosine receptor A1 Adenosine receptor C00019423 0 / 0
P18089 Alpha-2B adrenergic receptor Adrenergic receptor C00019423 0 / 0
P24557 Thromboxane-A synthase Cytochrome P450 5A1 C00019423 1 / 1
P05412 Transcription factor AP-1 Transcription Factor C00019423 0 / 0
P06239 Tyrosine-protein kinase Lck Src C00019423 0 / 1
P25025 C-X-C chemokine receptor type 2 CXC chemokine receptor C00019423 0 / 0
Q9UBT6 DNA polymerase kappa Enzyme C00009783 0 / 0
B2RXH2 Lysine-specific demethylase 4E Enzyme C00019423 0 / 0
P46063 ATP-dependent DNA helicase Q1 Enzyme C00019423 0 / 0
P40225 Thrombopoietin Unclassified protein C00019423 1 / 1
Q96KQ7 Histone-lysine N-methyltransferase EHMT2 Enzyme C00019423 0 / 0
Q9NUW8 Tyrosyl-DNA phosphodiesterase 1 Enzyme C00019423 1 / 1

Related Diseases

Diseases related to proteins in ChEMBL interactions

OMIM (95)

OMIM preferred title UniProt
#300438 17-beta-hydroxysteroid dehydrogenase x deficiency Q99714
#100100 Abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism P20309
#202300 Adrenocortical carcinoma, hereditary; adcc P04637
#103780 Alcohol dependence P08172
P14416
P31645
#614373 Amyotrophic lateral sclerosis 16, juvenile; als16 Q99720
#300068 Androgen insensitivity syndrome; ais P10275
#312300 Androgen insensitivity, partial; pais P10275
#608584 Asthma-related traits, susceptibility to, 2 Q6W5P4
#614740 Basal cell carcinoma, susceptibility to, 7; bcc7 P04637
#210900 Bloom syndrome; blm P54132
#602025 Body mass index quantitative trait locus 9; bmiq9 P41968
%606641 Body mass index; bmi P37231
#300615 Brunner syndrome P21397
#115200 Cardiomyopathy, dilated, 1a; cmd1a P02545
#212112 Cardiomyopathy, dilated, with hypergonadotropic hypogonadism P02545
#609338 Carotid intimal medial thickness 1 P37231
#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
#162800 Cyclic neutropenia P08246
#612522 Diabetes mellitus, insulin-dependent, 22; iddm22 P51681
#119900 Digital clubbing, isolated congenital P15428
#609535 Drug metabolism, poor, cyp2c19-related P33261
#608902 Drug metabolism, poor, cyp2d6-related P10635
#237500 Dubin-johnson syndrome; djs Q92887
#181350 Emery-dreifuss muscular dystrophy 2, autosomal dominant; edmd2 P02545
#133239 Esophageal cancer P04637
#615363 Estrogen resistance; estrr P03372
#600274 Frontotemporal dementia; ftd P10636
#613659 Gastric cancer P04626
#137215 Gastric cancer, hereditary diffuse; hdgc P04626
#231095 Ghosal hematodiaphyseal dysplasia; ghdd P24557
#137800 Glioma susceptibility 1; glm1 P04626
P37231
#139393 Guillain-barre syndrome, familial; gbs Q01453
#610140 Heart-hand syndrome, slovenian type P02545
#609423 Human immunodeficiency virus type 1, susceptibility to P41597
P51681
#176670 Hutchinson-gilford progeria syndrome; hgps P02545
#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
#275200 Hypothyroidism, congenital, nongoitrous, 1; chng1 P16473
#603932 Intervertebral disc disease; idd P14780
#535000 Leber optic atrophy P03905
#500001 Leber optic atrophy and dystonia P03905
#151623 Li-fraumeni syndrome 1; lfs1 P04637
#151660 Lipodystrophy, familial partial, type 2; fpld2 P02545
#604367 Lipodystrophy, familial partial, type 3; fpld3 P37231
#613688 Long qt syndrome 2; lqt2 Q12809
#211980 Lung cancer P00533
P04626
P04637
#608516 Major depressive disorder; mdd P08172
#248370 Mandibuloacral dysplasia with type a lipodystrophy; mada P02545
#300705 Mental retardation, x-linked 17; mrx17 Q99714
%300852 Mental retardation, x-linked 88; mrx88 P50052
#300220 Mental retardation, x-linked, syndromic 10; mrxs10 Q99714
#613073 Metaphyseal anadysplasia 2; mandp2 P14780
#540000 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes; melas P03905
#126200 Multiple sclerosis, susceptibility to; ms P08575
#613205 Muscular dystrophy, congenital, lmna-related P02545
#159001 Muscular dystrophy, limb-girdle, type 1b; lgmd1b P02545
#159900 Myoclonic dystonia P14416
#162500 Neuropathy, hereditary, with liability to pressure palsies; hnpp Q01453
#202700 Neutropenia, severe congenital, 1, autosomal dominant; scn1 P08246
#257220 Niemann-pick disease, type c1; npc1 O15118
#601665 Obesity P32245
P37231
#164230 Obsessive-compulsive disorder; ocd P31645
#604715 Orthostatic intolerance P23975
#259730 Osteopetrosis, autosomal recessive 3; optb3 P00918
#167000 Ovarian cancer P04626
#260500 Papilloma of choroid plexus; cpp P04637
#260540 Parkinson-dementia syndrome P10636
#613135 Parkinsonism-dystonia, infantile; pkdys Q01959
#172700 Pick disease of brain P10636
#607276 Resting heart rate, variation in P08588
#275210 Restrictive dermopathy, lethal P02545
#604906 Schizophrenia 9; sczd9 P49798
#181500 Schizophrenia; sczd P49798
#608971 Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive P08575
#609620 Short qt syndrome 1; sqt1 Q12809
#313200 Spinal and bulbar muscular atrophy, x-linked 1; smax1 P10275
#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
#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
#190300 Tremor, hereditary essential, 1; etm1 P35462
#610379 West nile virus, susceptibility to P51681
#112100 Yt blood group antigen P22303

KEGG DISEASE (88)

KEGG name UniProt
H00136 Niemann-Pick disease type C (NPC) O15118 (related)
H00016 Oral cancer P00533 (related)
P00533 (marker)
P04637 (related)
P04637 (marker)
H00017 Esophageal cancer P00533 (related)
P04637 (related)
P04637 (marker)
P35354 (related)
H00018 Gastric cancer P00533 (related)
P04626 (related)
P04637 (related)
H00022 Bladder cancer P00533 (related)
P04626 (related)
P04637 (related)
H00028 Choriocarcinoma P00533 (related)
P03956 (related)
P04626 (related)
P04637 (related)
H00030 Cervical cancer P00533 (related)
P04626 (related)
H00042 Glioma P00533 (related)
P00533 (marker)
P04637 (related)
P04637 (marker)
H00055 Laryngeal cancer P00533 (related)
P00533 (marker)
P04637 (related)
P04637 (marker)
H00241 Combined proximal and distal renal tubular acidosis (RTA type 3) P00918 (related)
H00436 Osteopetrosis P00918 (related)
H00264 Charcot-Marie-Tooth disease (CMT) P02545 (related)
Q01453 (related)
H00294 Dilated cardiomyopathy (DCM) P02545 (related)
H00420 Familial partial lipodystrophy (FPL) P02545 (related)
P37231 (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)
H00026 Endometrial Cancer P03372 (marker)
P04626 (related)
P04637 (related)
Q92731 (marker)
H00068 Leber optic atrophy P03905 (related)
H00599 46,XX disorders of sex development (Disorders related to androgen excess) P04150 (related)
H00019 Pancreatic cancer P04626 (related)
P04637 (related)
P04637 (marker)
H00027 Ovarian cancer P04626 (related)
P04637 (related)
H00031 Breast cancer P04626 (related)
P04626 (marker)
P04637 (related)
H00046 Cholangiocarcinoma P04626 (related)
P04637 (related)
P35354 (related)
H00004 Chronic myeloid leukemia (CML) P04637 (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)
H00015 Malignant pleural mesothelioma P04637 (related)
H00020 Colorectal cancer P04637 (related)
P04637 (marker)
H00025 Penile cancer P04637 (related)
P04637 (marker)
P14780 (related)
P35354 (related)
H00029 Vulvar cancer P04637 (related)
H00032 Thyroid cancer P04637 (related)
P37231 (related)
H00033 Adrenal carcinoma P04637 (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)
H00044 Cancer of the anal canal P04637 (related)
H00047 Gallbladder cancer P04637 (related)
H00048 Hepatocellular carcinoma P04637 (related)
H00881 Li-Fraumeni syndrome P04637 (related)
H01007 Choroid plexus papilloma P04637 (related)
H00021 Renal cell carcinoma P04637 (marker)
H00093 Combined immunodeficiencies (CIDs) P06239 (related)
H00079 Asthma P07550 (related)
H00100 Neutropenic disorders P08246 (related)
H00091 T-B+Severe combined immunodeficiencies (SCIDs) P08575 (related)
H00024 Prostate cancer P10275 (related)
H00062 Spinal and bulbar muscular atrophy (SBMA) P10275 (related)
H00608 46,XY disorders of sex development (Disorders in androgen synthesis or action) P10275 (related)
H00609 46,XY disorders of sex development (Other) P10275 (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)
H01205 Coumarin resistance P11712 (related)
H00479 Metaphyseal dysplasias P14780 (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)
H00548 Brunner syndrome P21397 (related)
H01031 Orthostatic intolerance (OI) P23975 (related)
H00490 Diaphyseal dysplasia with anemia (Ghosal) P24557 (related)
H01171 Poor drug metabolism (PM) P33261 (related)
H00409 Type II diabetes mellitus P37231 (related)
H00227 Congenital amegakaryocytic thrombocytopenia (CAMT) P40225 (marker)
H00480 Non-syndromic X-linked mental retardation P50052 (related)
Q99714 (related)
H00094 DNA repair defects P54132 (related)
H00296 Defects in RecQ helicases P54132 (related)
H01296 Hereditary neuropathy with liability to pressure palsies (HNPP) Q01453 (related)
H00720 Long QT syndrome Q12809 (related)
H00725 Short QT syndrome Q12809 (related)
H00455 Spinal muscular atrophy (SMA) Q16637 (related)
H00208 Hyperbilirubinemia Q92887 (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)