PCIDB

KNApSAcK Metabolite C00000754

Metabolite

KNApSAcK Entry

id C00000754
Name (R)-Lipoic acid / R-(+)-Thioctic acid
CAS RN 1200-22-2
Standard InChI InChI=1S/C8H14O2S2/c9-8(10)4-2-1-3-7-5-6-11-12-7/h7H,1-6H2,(H,9,10)/t7-/m1/s1
Standard InChI (Main Layer) InChI=1S/C8H14O2S2/c9-8(10)4-2-1-3-7-5-6-11-12-7/h7H,1-6H2,(H,9,10)

Cluster

Phytochemical cluster
KCF-S cluster No. 7263

Link

ChEMBL

By standard InChI CHEMBL134342
By standard InChI Main Layer CHEMBL33864 CHEMBL134342 CHEMBL1234071

KEGG

By LinkDB C16241

CTD

By CAS RN

Species

Summary

Plant class

class name count

Family

family name count
Enterobacteriaceae 1

List (1)

* NCBI
KNApSAcK organism *ID *family *plant class *kingdom
Escherichia coli 562 Enterobacteriaceae Bacteria

Human Protein / Gene in interaction

125 ChEMBL Protein in interactions

accession description class description compound assay ID (# of activities) # of diseases
(OMIM / KEGG)
P29475 Nitric oxide synthase, brain Enzyme CHEMBL134342 CHEMBL750241 (1)
0 / 0
P10635 Cytochrome P450 2D6 Cytochrome P450 2D6 CHEMBL134342 CHEMBL1234071 CHEMBL1741321 (1) CHEMBL1909136 (2)
1 / 0
Q9UIF8 Bromodomain adjacent to zinc finger domain protein 2B Unclassified protein CHEMBL33864 CHEMBL1738312 (1)
0 / 0
P21728 D(1A) dopamine receptor Dopamine receptor CHEMBL134342 CHEMBL1909139 (2)
0 / 0
P35354 Prostaglandin G/H synthase 2 Oxidoreductase CHEMBL134342 CHEMBL1014033 (1) CHEMBL969894 (1)
CHEMBL1909131 (2)
0 / 3
Q12809 Potassium voltage-gated channel subfamily H member 2 KCNH, Kv10-12.x (Ether-a-go-go) CHEMBL134342 CHEMBL1909190 (2)
2 / 2
P08246 Neutrophil elastase S1A CHEMBL134342 CHEMBL1909195 (2)
2 / 1
P33765 Adenosine receptor A3 Adenosine receptor CHEMBL134342 CHEMBL1909215 (2)
0 / 0
Q16539 Mitogen-activated protein kinase 14 p38 CHEMBL134342 CHEMBL1909201 (2)
0 / 0
P06746 DNA polymerase beta Enzyme CHEMBL33864 CHEMBL1614079 (1)
0 / 0
P49146 Neuropeptide Y receptor type 2 Neuropeptide Y receptor CHEMBL134342 CHEMBL1909176 (2)
0 / 0
P29466 Caspase-1 C14 CHEMBL134342 CHEMBL1909193 (2)
0 / 0
P17252 Protein kinase C alpha type Alpha CHEMBL134342 CHEMBL1909198 (2)
0 / 0
P27361 Mitogen-activated protein kinase 3 Erk CHEMBL134342 CHEMBL1909199 (2)
0 / 0
Q03181 Peroxisome proliferator-activated receptor delta NR1C2 CHEMBL33864 CHEMBL1794552 (1)
0 / 0
P14780 Matrix metalloproteinase-9 M10A CHEMBL134342 CHEMBL1909197 (2)
2 / 2
P02545 Prelamin-A/C Unclassified protein CHEMBL33864 CHEMBL134342 CHEMBL1614310 (1) CHEMBL1614544 (2)
11 / 10
P16473 Thyrotropin receptor Glycohormone receptor CHEMBL33864 CHEMBL1614281 (1) CHEMBL1614361 (1)
3 / 2
P10828 Thyroid hormone receptor beta NR1A2 CHEMBL33864 CHEMBL134342 CHEMBL1614554 (1) CHEMBL1613776 (1)
CHEMBL1794399 (1)
3 / 1
P19793 Retinoic acid receptor RXR-alpha NR2B1 CHEMBL33864 CHEMBL1794371 (1)
0 / 0
P00918 Carbonic anhydrase 2 Lyase CHEMBL134342 CHEMBL1909123 (2)
1 / 2
P07550 Beta-2 adrenergic receptor Adrenergic receptor CHEMBL134342 CHEMBL1909092 (2)
0 / 1
P21397 Amine oxidase [flavin-containing] A Oxidoreductase CHEMBL134342 CHEMBL1909169 (2)
1 / 1
P25021 Histamine H2 receptor Histamine receptor CHEMBL134342 CHEMBL1909157 (2)
0 / 0
P35367 Histamine H1 receptor Histamine receptor CHEMBL134342 CHEMBL1909156 (2)
0 / 0
Q01959 Sodium-dependent dopamine transporter Dopamine CHEMBL134342 CHEMBL1909143 (2)
1 / 0
P08912 Muscarinic acetylcholine receptor M5 Acetylcholine receptor CHEMBL134342 CHEMBL1909174 (2)
0 / 0
P18825 Alpha-2C adrenergic receptor Adrenergic receptor CHEMBL134342 CHEMBL1909090 (2)
0 / 0
P13945 Beta-3 adrenergic receptor Adrenergic receptor CHEMBL134342 CHEMBL1909093 (2)
0 / 0
P25024 C-X-C chemokine receptor type 1 CXC chemokine receptor CHEMBL134342 CHEMBL1909127 (2)
0 / 0
P06241 Tyrosine-protein kinase Fyn Src CHEMBL134342 CHEMBL1909204 (2)
0 / 0
Q08209 Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform Ser_Thr CHEMBL134342 CHEMBL1909202 (2)
0 / 0
P11712 Cytochrome P450 2C9 Cytochrome P450 2C9 CHEMBL134342 CHEMBL1234071 CHEMBL1614027 (1) CHEMBL1741325 (1)
CHEMBL1909135 (2)
0 / 1
P54132 Bloom syndrome protein Enzyme CHEMBL33864 CHEMBL134342 CHEMBL1614522 (1) CHEMBL1614067 (2)
1 / 2
P00533 Epidermal growth factor receptor TK tyrosine-protein kinase EGFR subfamily CHEMBL134342 CHEMBL1909203 (2)
1 / 11
P14416 D(2) dopamine receptor Dopamine receptor CHEMBL134342 CHEMBL1909140 (2)
2 / 0
P23219 Prostaglandin G/H synthase 1 Oxidoreductase CHEMBL134342 CHEMBL1909130 (2)
0 / 0
P37288 Vasopressin V1a receptor Vasopressin and oxytocin receptor CHEMBL134342 CHEMBL1909120 (2)
0 / 0
P41145 Kappa-type opioid receptor Opioid receptor CHEMBL134342 CHEMBL1909181 (2)
0 / 0
Q9Y271 Cysteinyl leukotriene receptor 1 Leukotriene receptor CHEMBL134342 CHEMBL1909164 (2)
0 / 0
P29274 Adenosine receptor A2a Adenosine receptor CHEMBL134342 CHEMBL1909214 (2)
0 / 0
P25929 Neuropeptide Y receptor type 1 Neuropeptide Y receptor CHEMBL134342 CHEMBL1909175 (2)
0 / 0
P50052 Type-2 angiotensin II receptor Angiotensin receptor CHEMBL134342 CHEMBL1909096 (2)
1 / 1
P17948 Vascular endothelial growth factor receptor 1 Vegfr CHEMBL134342 CHEMBL1909118 (2)
0 / 0
P41968 Melanocortin receptor 3 Melanocortin receptor CHEMBL134342 CHEMBL1909166 (2)
1 / 0
P00352 Retinal dehydrogenase 1 Enzyme CHEMBL33864 CHEMBL1614458 (1)
0 / 0
P11509 Cytochrome P450 2A6 Cytochrome P450 2A6 CHEMBL134342 CHEMBL1909133 (2)
0 / 0
Q92830 Histone acetyltransferase KAT2A Enzyme CHEMBL33864 CHEMBL1738606 (1)
0 / 0
O75496 Geminin Unclassified protein CHEMBL33864 CHEMBL2114780 (1)
0 / 0
P04035 3-hydroxy-3-methylglutaryl-coenzyme A reductase Oxidoreductase CHEMBL134342 CHEMBL1909158 (2)
0 / 0
P08913 Alpha-2A adrenergic receptor Adrenergic receptor CHEMBL134342 CHEMBL1909088 (2)
0 / 0
P21917 D(4) dopamine receptor Dopamine receptor CHEMBL134342 CHEMBL1909142 (2)
0 / 0
P30988 Calcitonin receptor Calcitonin receptor CHEMBL134342 CHEMBL1909101 (2)
0 / 0
P35348 Alpha-1A adrenergic receptor Adrenergic receptor CHEMBL134342 CHEMBL838524 (1)
0 / 0
P35462 D(3) dopamine receptor Dopamine receptor CHEMBL134342 CHEMBL1909141 (2)
1 / 0
P41143 Delta-type opioid receptor Opioid receptor CHEMBL134342 CHEMBL1909180 (2)
0 / 0
Q92731 Estrogen receptor beta NR3A2 CHEMBL134342 CHEMBL1909146 (2)
0 / 1
P41595 5-hydroxytryptamine receptor 2B Serotonin receptor CHEMBL134342 CHEMBL1909104 (2)
0 / 0
P25101 Endothelin-1 receptor Endothelin receptor CHEMBL134342 CHEMBL1909144 (2)
0 / 0
P30411 B2 bradykinin receptor Bradykinin receptor CHEMBL134342 CHEMBL1909100 (2)
0 / 0
P32245 Melanocortin receptor 4 Melanocortin receptor CHEMBL134342 CHEMBL1909167 (2)
1 / 0
P32238 Cholecystokinin receptor type A Cholecystokinin receptor CHEMBL134342 CHEMBL1909129 (2)
0 / 0
P08311 Cathepsin G S1A CHEMBL134342 CHEMBL1909194 (2)
0 / 0
Q99720 Sigma non-opioid intracellular receptor 1 Membrane receptor CHEMBL134342 CHEMBL1909110 (2)
1 / 0
P03956 Interstitial collagenase M10A CHEMBL134342 CHEMBL1909196 (2)
0 / 1
P32241 Vasoactive intestinal polypeptide receptor 1 Vasoactive intestinal peptide receptor CHEMBL134342 CHEMBL1909119 (2)
0 / 0
Q9Y253 DNA polymerase eta Enzyme CHEMBL134342 CHEMBL1794569 (1)
1 / 1
Q9Y468 Lethal(3)malignant brain tumor-like protein 1 Unclassified protein CHEMBL33864 CHEMBL1614280 (1)
0 / 0
P11021 78 kDa glucose-regulated protein Unclassified protein CHEMBL33864 CHEMBL1963893 (1)
0 / 0
P04150 Glucocorticoid receptor NR3C1 CHEMBL134342 CHEMBL1909150 (2)
0 / 1
P08172 Muscarinic acetylcholine receptor M2 Acetylcholine receptor CHEMBL134342 CHEMBL1909171 (2)
2 / 0
P11229 Muscarinic acetylcholine receptor M1 Acetylcholine receptor CHEMBL134342 CHEMBL1909170 (2)
0 / 0
P21554 Cannabinoid receptor 1 Cannabinoid receptor CHEMBL134342 CHEMBL1909122 (2)
0 / 0
P31645 Sodium-dependent serotonin transporter Serotonin CHEMBL134342 CHEMBL1909109 (2)
2 / 0
P37231 Peroxisome proliferator-activated receptor gamma NR1C3 CHEMBL33864 CHEMBL1794510 (1)
5 / 3
P04626 Receptor tyrosine-protein kinase erbB-2 TK tyrosine-protein kinase EGFR subfamily CHEMBL134342 CHEMBL1909205 (2)
5 / 10
P20309 Muscarinic acetylcholine receptor M3 Acetylcholine receptor CHEMBL134342 CHEMBL1909172 (2)
1 / 0
P21452 Substance-K receptor Neurokinin receptor CHEMBL134342 CHEMBL1909114 (2)
0 / 0
P06276 Cholinesterase Hydrolase CHEMBL134342 CHEMBL833546 (1) CHEMBL1912248 (1)
0 / 0
P51679 C-C chemokine receptor type 4 CC chemokine receptor CHEMBL134342 CHEMBL1909125 (2)
0 / 0
P51681 C-C chemokine receptor type 5 CC chemokine receptor CHEMBL134342 CHEMBL1909126 (2)
3 / 0
P50406 5-hydroxytryptamine receptor 6 Serotonin receptor CHEMBL134342 CHEMBL1909108 (2)
0 / 0
P41597 C-C chemokine receptor type 2 CC chemokine receptor CHEMBL134342 CHEMBL1909124 (2)
1 / 0
P28482 Mitogen-activated protein kinase 1 Erk CHEMBL134342 CHEMBL1909200 (2)
0 / 0
P08575 Receptor-type tyrosine-protein phosphatase C Enzyme CHEMBL134342 CHEMBL1909207 (2)
2 / 1
P05177 Cytochrome P450 1A2 Cytochrome P450 1A2 CHEMBL134342 CHEMBL1234071 CHEMBL1741322 (1) CHEMBL1909132 (2)
0 / 0
Q99714 3-hydroxyacyl-CoA dehydrogenase type-2 Enzyme CHEMBL33864 CHEMBL1234071 CHEMBL1613910 (1) CHEMBL1614227 (1)
3 / 3
Q01453 Peripheral myelin protein 22 Unclassified protein CHEMBL134342 CHEMBL1614171 (1)
5 / 2
P51449 Nuclear receptor ROR-gamma Nuclear hormone receptor subfamily 1 group F member 3 CHEMBL33864 CHEMBL2114842 (1)
0 / 0
O76074 cGMP-specific 3',5'-cyclic phosphodiesterase PDE_5A CHEMBL134342 CHEMBL1909186 (2)
0 / 0
P03372 Estrogen receptor NR3A1 CHEMBL134342 CHEMBL1909145 (2)
1 / 1
P08588 Beta-1 adrenergic receptor Adrenergic receptor CHEMBL134342 CHEMBL1909091 (2)
1 / 0
P22303 Acetylcholinesterase Hydrolase CHEMBL134342 CHEMBL832842 (1) CHEMBL945890 (1)
CHEMBL945892 (1) CHEMBL1909212 (2)
CHEMBL1912247 (1)
1 / 0
P28223 5-hydroxytryptamine receptor 2A Serotonin receptor CHEMBL134342 CHEMBL1909211 (2)
0 / 0
P28335 5-hydroxytryptamine receptor 2C Serotonin receptor CHEMBL134342 CHEMBL1909105 (2)
0 / 0
P35372 Mu-type opioid receptor Opioid receptor CHEMBL134342 CHEMBL1909182 (2)
0 / 0
P08173 Muscarinic acetylcholine receptor M4 Acetylcholine receptor CHEMBL134342 CHEMBL1909173 (2)
0 / 0
P25103 Substance-P receptor Neurokinin receptor CHEMBL134342 CHEMBL1909113 (2)
0 / 0
P25105 Platelet-activating factor receptor PAF receptor CHEMBL134342 CHEMBL1909187 (2)
0 / 0
P33032 Melanocortin receptor 5 Melanocortin receptor CHEMBL134342 CHEMBL1909168 (2)
0 / 0
P33261 Cytochrome P450 2C19 Cytochrome P450 2C19 CHEMBL134342 CHEMBL1234071 CHEMBL1741323 (1) CHEMBL1909134 (2)
1 / 1
P08684 Cytochrome P450 3A4 Cytochrome P450 3A4 CHEMBL134342 CHEMBL1234071 CHEMBL1741324 (1) CHEMBL1909138 (2)
0 / 1
P05181 Cytochrome P450 2E1 Cytochrome P450 2E1 CHEMBL134342 CHEMBL1909137 (2)
0 / 0
P27695 DNA-(apurinic or apyrimidinic site) lyase Enzyme CHEMBL33864 CHEMBL134342 CHEMBL1614466 (1) CHEMBL1614211 (3)
0 / 0
Q99549 M-phase phosphoprotein 8 Unclassified protein CHEMBL134342 CHEMBL1738402 (1)
0 / 0
Q16236 Nuclear factor erythroid 2-related factor 2 Unclassified protein CHEMBL33864 CHEMBL1738184 (1) CHEMBL2114890 (2)
0 / 0
P23975 Sodium-dependent noradrenaline transporter Norepinephrine CHEMBL134342 CHEMBL1909094 (2)
1 / 1
P25100 Alpha-1D adrenergic receptor Adrenergic receptor CHEMBL134342 CHEMBL840169 (1) CHEMBL1909087 (2)
0 / 0
P30542 Adenosine receptor A1 Adenosine receptor CHEMBL134342 CHEMBL1909213 (2)
0 / 0
P35368 Alpha-1B adrenergic receptor Adrenergic receptor CHEMBL134342 CHEMBL840168 (1)
0 / 0
P18089 Alpha-2B adrenergic receptor Adrenergic receptor CHEMBL134342 CHEMBL1909089 (2)
0 / 0
P24557 Thromboxane-A synthase Cytochrome P450 5A1 CHEMBL134342 CHEMBL1909116 (2)
1 / 1
P06239 Tyrosine-protein kinase Lck Src CHEMBL134342 CHEMBL1909206 (2)
0 / 1
P25025 C-X-C chemokine receptor type 2 CXC chemokine receptor CHEMBL134342 CHEMBL1909128 (2)
0 / 0
Q9UBT6 DNA polymerase kappa Enzyme CHEMBL33864 CHEMBL1794536 (2)
0 / 0
P46063 ATP-dependent DNA helicase Q1 Enzyme CHEMBL33864 CHEMBL1613829 (1)
0 / 0
Q96KQ7 Histone-lysine N-methyltransferase EHMT2 Enzyme CHEMBL33864 CHEMBL134342 CHEMBL1738442 (2)
0 / 0
Q9NUW8 Tyrosyl-DNA phosphodiesterase 1 Enzyme CHEMBL33864 CHEMBL134342 CHEMBL1614364 (5) CHEMBL1738394 (1)
1 / 1
O00255 Menin Unclassified protein CHEMBL33864 CHEMBL1614531 (1)
2 / 5
Q03164 Histone-lysine N-methyltransferase 2A Enzyme CHEMBL33864 CHEMBL1614531 (1)
1 / 3
Q13951 Core-binding factor subunit beta Unclassified protein CHEMBL33864 CHEMBL1613933 (2)
0 / 1
Q01196 Runt-related transcription factor 1 Unclassified protein CHEMBL33864 CHEMBL1613933 (2)
1 / 6
Q9UBT2 SUMO-activating enzyme subunit 2 Enzyme CHEMBL33864 CHEMBL1614105 (1) CHEMBL1614290 (1)
0 / 0
Q9UBE0 SUMO-activating enzyme subunit 1 Unclassified protein CHEMBL33864 CHEMBL1614105 (1) CHEMBL1614290 (1)
0 / 0
Q13148 TAR DNA-binding protein 43 Unclassified protein CHEMBL33864 CHEMBL2354287 (1)
1 / 1

Related Disease

Diseases related to proteins in ChEMBL interactions

OMIM (72)

OMIM preferred title UniProt
#300438 17-beta-hydroxysteroid dehydrogenase x deficiency Q99714
#100100 Abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism P20309
#103780 Alcohol dependence P08172
P14416
P31645
#612069 Amyotrophic lateral sclerosis 10, with or without frontotemporal dementia; als10 Q13148
#614373 Amyotrophic lateral sclerosis 16, juvenile; als16 Q99720
#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
#609535 Drug metabolism, poor, cyp2c19-related P33261
#608902 Drug metabolism, poor, cyp2d6-related P10635
#181350 Emery-dreifuss muscular dystrophy 2, autosomal dominant; edmd2 P02545
#615363 Estrogen resistance; estrr P03372
#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
#605130 Hairy elbows, short stature, facial dysmorphism, and developmental delay Q03164
#610140 Heart-hand syndrome, slovenian type P02545
#609423 Human immunodeficiency virus type 1, susceptibility to P41597
P51681
#176670 Hutchinson-gilford progeria syndrome; hgps P02545
#145000 Hyperparathyroidism 1; hrpt1 O00255
#603373 Hyperthyroidism, familial gestational P16473
#609152 Hyperthyroidism, nonautoimmune P16473
#145900 Hypertrophic neuropathy of dejerine-sottas Q01453
#275200 Hypothyroidism, congenital, nongoitrous, 1; chng1 P16473
#603932 Intervertebral disc disease; idd P14780
#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
#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
#131100 Multiple endocrine neoplasia, type i; men1 O00255
#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
#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
#613135 Parkinsonism-dystonia, infantile; pkdys Q01959
#601399 Platelet disorder, familial, with associated myeloid malignancy Q01196
#607276 Resting heart rate, variation in P08588
#275210 Restrictive dermopathy, lethal P02545
#608971 Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive P08575
#609620 Short qt syndrome 1; sqt1 Q12809
#607250 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy; scan1 Q9NUW8
#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
#278750 Xeroderma pigmentosum, variant type; xpv Q9Y253
#112100 Yt blood group antigen P22303

KEGG DISEASE (64)

KEGG disease name UniProt
H00033 Adrenal carcinoma O00255 (related)
H00034 Carcinoid O00255 (related)
H00045 Malignant islet cell carcinoma O00255 (related)
H00246 Primary hyperparathyroidism O00255 (related)
H01102 Pituitary adenomas O00255 (related)
H00016 Oral cancer P00533 (related)
P00533 (marker)
H00017 Esophageal cancer P00533 (related)
P35354 (related)
H00018 Gastric cancer P00533 (related)
P04626 (related)
H00022 Bladder cancer P00533 (related)
P04626 (related)
H00028 Choriocarcinoma P00533 (related)
P03956 (related)
P04626 (related)
H00030 Cervical cancer P00533 (related)
P04626 (related)
H00042 Glioma P00533 (related)
P00533 (marker)
H00055 Laryngeal cancer P00533 (related)
P00533 (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)
Q92731 (marker)
H00599 46,XX disorders of sex development (Disorders related to androgen excess) P04150 (related)
H00019 Pancreatic cancer P04626 (related)
H00027 Ovarian cancer P04626 (related)
H00031 Breast cancer P04626 (related)
P04626 (marker)
H00046 Cholangiocarcinoma P04626 (related)
P35354 (related)
H00093 Combined immunodeficiencies (CIDs) P06239 (related)
H00079 Asthma P07550 (related)
H00100 Neutropenic disorders P08246 (related)
H00091 T-B+Severe combined immunodeficiencies (SCIDs) P08575 (related)
H00036 Osteosarcoma P08684 (marker)
H00249 Thyroid hormone resistance syndrome P10828 (related)
H01205 Coumarin resistance P11712 (related)
H00025 Penile cancer P14780 (related)
P35354 (related)
H00479 Metaphyseal dysplasias P14780 (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)
H00032 Thyroid cancer P37231 (related)
H00409 Type II diabetes mellitus P37231 (related)
H00480 Non-syndromic X-linked mental retardation P50052 (related)
Q99714 (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)
H00003 Acute myeloid leukemia (AML) Q01196 (related)
Q01196 (marker)
Q13951 (marker)
H00004 Chronic myeloid leukemia (CML) Q01196 (related)
H00978 Thrombocytopenia (THC) Q01196 (related)
H01296 Hereditary neuropathy with liability to pressure palsies (HNPP) Q01453 (related)
H00002 Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia) Q03164 (related)
H00720 Long QT syndrome Q12809 (related)
H00725 Short QT syndrome Q12809 (related)
H00058 Amyotrophic lateral sclerosis (ALS) Q13148 (related)
H00658 Syndromic X-linked mental retardation Q99714 (related)
H00925 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency Q99714 (related)
H00063 Spinocerebellar ataxia (SCA) Q9NUW8 (related)
H00403 Disorders of nucleotide excision repair Q9Y253 (related)