PCIDB

KNApSAcK Metabolite C00002293

Metabolite

KNApSAcK Entry

id C00002293
Name Hyoscyamine / (-)-Hyoscyamine
CAS RN 101-31-5
Standard InChI InChI=1S/C17H23NO3/c1-18-13-7-8-14(18)10-15(9-13)21-17(20)16(11-19)12-5-3-2-4-6-12/h2-6,13-16,19H,7-11H2,1H3/t13-,14?,15-,16-/m1/s1
Standard InChI (Main Layer) InChI=1S/C17H23NO3/c1-18-13-7-8-14(18)10-15(9-13)21-17(20)16(11-19)12-5-3-2-4-6-12/h2-6,13-16,19H,7-11H2,1H3

Cluster

Phytochemical cluster No. 1
KCF-S cluster No. 666

Link

ChEMBL

By standard InChI
By standard InChI Main Layer CHEMBL9751 CHEMBL517712 CHEMBL1257084 CHEMBL1331216 CHEMBL1379091 CHEMBL2112074

KEGG

By LinkDB C02046

CTD

By CAS RN D064692

Species

Summary

Plant class

class name count
asterids 33

Family

family name count
Solanaceae 33

List (33)

* NCBI
KNApSAcK organism *ID *family *plant class *kingdom
Anisodus luridus Link et Otto. 243963 Solanaceae asterids Viridiplantae
Anthocercis fasciculata 24605 Solanaceae asterids Viridiplantae
Anthocercis viscosa 33112 Solanaceae asterids Viridiplantae
Anthotroche myoporoides 195724 Solanaceae asterids Viridiplantae
Anthotroche pannosa 195726 Solanaceae asterids Viridiplantae
Anthotroche walcottii 195727 Solanaceae asterids Viridiplantae
Atropa baetica 448155 Solanaceae asterids Viridiplantae
Atropa bella-donna 24609 Solanaceae asterids Viridiplantae
Atropa belladonna 33113 Solanaceae asterids Viridiplantae
Cyphanthera anthocercidea 195732 Solanaceae asterids Viridiplantae
Cyphanthera spinescens 195730 Solanaceae asterids Viridiplantae
Cyphomandra betaceae 4107 Solanaceae asterids Viridiplantae
Datura arborea L. 41689 Solanaceae asterids Viridiplantae
Datura meteloides DC. 4074 Solanaceae asterids Viridiplantae
Datura quercifolia 45451 Solanaceae asterids Viridiplantae
Datura stramonium 4076 Solanaceae asterids Viridiplantae
Duboisia arenitensis 195735 Solanaceae asterids Viridiplantae
Duboisia leichhardtii 195736 Solanaceae asterids Viridiplantae
Duboisia myoporoides 195737 Solanaceae asterids Viridiplantae
Hyoscyamus albus L. 310458 Solanaceae asterids Viridiplantae
Hyoscyamus muticus 35626 Solanaceae asterids Viridiplantae
Hyoscyamus niger 4079 Solanaceae asterids Viridiplantae
Hyoscyamus reticulatus 4078 Solanaceae asterids Viridiplantae
Mandragora autumnale 24647 Solanaceae asterids Viridiplantae
Mandragora autumnalis 389206 Solanaceae asterids Viridiplantae
Mandragora officinarum L. 33117 Solanaceae asterids Viridiplantae
Mandragora scopoliae 24647 Solanaceae asterids Viridiplantae
Mandragora turcomanica Mizger 24647 Solanaceae asterids Viridiplantae
Mandragora vernalis 24647 Solanaceae asterids Viridiplantae
Physochlaina alaica 337184 Solanaceae asterids Viridiplantae
Physochlaina orientalis 451527 Solanaceae asterids Viridiplantae
Scopolia japonica 221162 Solanaceae asterids Viridiplantae
Scopolia lurida 221161 Solanaceae asterids Viridiplantae

Human Protein / Gene in interaction

110 ChEMBL Protein in interactions

accession description class description compound assay ID (# of activities) # of diseases
(OMIM / KEGG)
P10635 Cytochrome P450 2D6 Cytochrome P450 2D6 CHEMBL517712 CHEMBL1379091 CHEMBL1741321 (3) CHEMBL1909136 (2)
CHEMBL2071965 (1)
1 / 0
P21728 D(1A) dopamine receptor Dopamine receptor CHEMBL517712 CHEMBL1909139 (2)
0 / 0
P35354 Prostaglandin G/H synthase 2 Oxidoreductase CHEMBL517712 CHEMBL1014033 (1) CHEMBL1909131 (2)
0 / 3
Q12809 Potassium voltage-gated channel subfamily H member 2 KCNH, Kv10-12.x (Ether-a-go-go) CHEMBL517712 CHEMBL1794573 (1) CHEMBL1909190 (2)
2 / 2
P08246 Neutrophil elastase S1A CHEMBL517712 CHEMBL1909195 (2)
2 / 1
P33765 Adenosine receptor A3 Adenosine receptor CHEMBL517712 CHEMBL1909215 (2)
0 / 0
Q16539 Mitogen-activated protein kinase 14 p38 CHEMBL517712 CHEMBL1909201 (2)
0 / 0
P06746 DNA polymerase beta Enzyme CHEMBL517712 CHEMBL1614079 (1)
0 / 0
P49146 Neuropeptide Y receptor type 2 Neuropeptide Y receptor CHEMBL517712 CHEMBL1909176 (2)
0 / 0
P29466 Caspase-1 C14 CHEMBL517712 CHEMBL1909193 (2)
0 / 0
P17252 Protein kinase C alpha type Alpha CHEMBL517712 CHEMBL1909198 (2)
0 / 0
P27361 Mitogen-activated protein kinase 3 Erk CHEMBL517712 CHEMBL1909199 (2)
0 / 0
P14780 Matrix metalloproteinase-9 M10A CHEMBL517712 CHEMBL1909197 (2)
2 / 2
O15245 Solute carrier family 22 member 1 Drug uniporter CHEMBL517712 CHEMBL993349 (1) CHEMBL994103 (1)
0 / 0
P02545 Prelamin-A/C Unclassified protein CHEMBL517712 CHEMBL1614310 (1)
11 / 10
P00918 Carbonic anhydrase 2 Lyase CHEMBL517712 CHEMBL1909123 (2)
1 / 2
P07550 Beta-2 adrenergic receptor Adrenergic receptor CHEMBL517712 CHEMBL1909092 (2)
0 / 1
P21397 Amine oxidase [flavin-containing] A Oxidoreductase CHEMBL517712 CHEMBL1909169 (2)
1 / 1
P25021 Histamine H2 receptor Histamine receptor CHEMBL517712 CHEMBL1909157 (2)
0 / 0
P35367 Histamine H1 receptor Histamine receptor CHEMBL517712 CHEMBL1909156 (2)
0 / 0
Q01959 Sodium-dependent dopamine transporter Dopamine CHEMBL517712 CHEMBL1909143 (2)
1 / 0
P08912 Muscarinic acetylcholine receptor M5 Acetylcholine receptor CHEMBL517712 CHEMBL686377 (1) CHEMBL683968 (1)
CHEMBL749215 (1) CHEMBL749216 (1)
CHEMBL749217 (1) CHEMBL749220 (1)
CHEMBL749221 (1) CHEMBL749222 (1)
CHEMBL749223 (1) CHEMBL744152 (1)
CHEMBL747674 (2) CHEMBL747675 (1)
CHEMBL744041 (1) CHEMBL749268 (1)
CHEMBL747005 (1) CHEMBL748452 (2)
CHEMBL748456 (2) CHEMBL748379 (1)
CHEMBL819452 (1) CHEMBL819453 (1)
CHEMBL819473 (1) CHEMBL843757 (1)
CHEMBL957809 (1) CHEMBL1248511 (1)
CHEMBL1831567 (1) CHEMBL1909174 (2)
0 / 0
P18825 Alpha-2C adrenergic receptor Adrenergic receptor CHEMBL517712 CHEMBL1909090 (2)
0 / 0
P13945 Beta-3 adrenergic receptor Adrenergic receptor CHEMBL517712 CHEMBL1909093 (2)
0 / 0
P02768 Serum albumin Secreted protein CHEMBL517712 CHEMBL702884 (1)
0 / 0
P25024 C-X-C chemokine receptor type 1 CXC chemokine receptor CHEMBL517712 CHEMBL1909127 (2)
0 / 0
P06241 Tyrosine-protein kinase Fyn Src CHEMBL517712 CHEMBL1909204 (2)
0 / 0
Q08209 Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform Ser_Thr CHEMBL517712 CHEMBL1909202 (2)
0 / 0
P11712 Cytochrome P450 2C9 Cytochrome P450 2C9 CHEMBL517712 CHEMBL1379091 CHEMBL1741325 (3) CHEMBL1909135 (2)
CHEMBL2071963 (1)
0 / 1
P54132 Bloom syndrome protein Enzyme CHEMBL517712 CHEMBL1614522 (1) CHEMBL1614067 (1)
1 / 2
P00533 Epidermal growth factor receptor TK tyrosine-protein kinase EGFR subfamily CHEMBL517712 CHEMBL1909203 (2)
1 / 11
P14416 D(2) dopamine receptor Dopamine receptor CHEMBL517712 CHEMBL1909140 (2)
2 / 0
P23219 Prostaglandin G/H synthase 1 Oxidoreductase CHEMBL517712 CHEMBL1909130 (2)
0 / 0
P37288 Vasopressin V1a receptor Vasopressin and oxytocin receptor CHEMBL517712 CHEMBL1909120 (2)
0 / 0
P41145 Kappa-type opioid receptor Opioid receptor CHEMBL517712 CHEMBL1909181 (2)
0 / 0
Q9Y271 Cysteinyl leukotriene receptor 1 Leukotriene receptor CHEMBL517712 CHEMBL1909164 (2)
0 / 0
P29274 Adenosine receptor A2a Adenosine receptor CHEMBL517712 CHEMBL1909214 (2)
0 / 0
P25929 Neuropeptide Y receptor type 1 Neuropeptide Y receptor CHEMBL517712 CHEMBL1909175 (2)
0 / 0
P50052 Type-2 angiotensin II receptor Angiotensin receptor CHEMBL517712 CHEMBL1909096 (2)
1 / 1
P17948 Vascular endothelial growth factor receptor 1 Vegfr CHEMBL517712 CHEMBL1909118 (2)
0 / 0
P41968 Melanocortin receptor 3 Melanocortin receptor CHEMBL517712 CHEMBL1909166 (2)
1 / 0
P11509 Cytochrome P450 2A6 Cytochrome P450 2A6 CHEMBL517712 CHEMBL1909133 (2)
0 / 0
Q92830 Histone acetyltransferase KAT2A Enzyme CHEMBL1379091 CHEMBL1738606 (1)
0 / 0
O75496 Geminin Unclassified protein CHEMBL1331216 CHEMBL2114780 (1)
0 / 0
P04035 3-hydroxy-3-methylglutaryl-coenzyme A reductase Oxidoreductase CHEMBL517712 CHEMBL1909158 (2)
0 / 0
P08913 Alpha-2A adrenergic receptor Adrenergic receptor CHEMBL517712 CHEMBL1909088 (2)
0 / 0
P21917 D(4) dopamine receptor Dopamine receptor CHEMBL517712 CHEMBL1909142 (2)
0 / 0
P30988 Calcitonin receptor Calcitonin receptor CHEMBL517712 CHEMBL1909101 (2)
0 / 0
P35462 D(3) dopamine receptor Dopamine receptor CHEMBL517712 CHEMBL1909141 (2)
1 / 0
P41143 Delta-type opioid receptor Opioid receptor CHEMBL517712 CHEMBL1909180 (2)
0 / 0
Q92731 Estrogen receptor beta NR3A2 CHEMBL517712 CHEMBL1909146 (2)
0 / 1
P41595 5-hydroxytryptamine receptor 2B Serotonin receptor CHEMBL517712 CHEMBL1909104 (2)
0 / 0
P25101 Endothelin-1 receptor Endothelin receptor CHEMBL517712 CHEMBL1909144 (2)
0 / 0
P30411 B2 bradykinin receptor Bradykinin receptor CHEMBL517712 CHEMBL1909100 (2)
0 / 0
P32245 Melanocortin receptor 4 Melanocortin receptor CHEMBL517712 CHEMBL1909167 (2)
1 / 0
P32238 Cholecystokinin receptor type A Cholecystokinin receptor CHEMBL517712 CHEMBL1909129 (2)
0 / 0
P08311 Cathepsin G S1A CHEMBL517712 CHEMBL1909194 (2)
0 / 0
Q99720 Sigma non-opioid intracellular receptor 1 Membrane receptor CHEMBL517712 CHEMBL1909110 (2)
1 / 0
P03956 Interstitial collagenase M10A CHEMBL517712 CHEMBL1909196 (2)
0 / 1
P32241 Vasoactive intestinal polypeptide receptor 1 Vasoactive intestinal peptide receptor CHEMBL517712 CHEMBL1909119 (2)
0 / 0
O94782 Ubiquitin carboxyl-terminal hydrolase 1 Enzyme CHEMBL1379091 CHEMBL1794467 (1)
0 / 0
P04150 Glucocorticoid receptor NR3C1 CHEMBL517712 CHEMBL1909150 (2)
0 / 1
P08172 Muscarinic acetylcholine receptor M2 Acetylcholine receptor CHEMBL517712 CHEMBL686377 (1) CHEMBL683968 (1)
CHEMBL708885 (1) CHEMBL743979 (1)
CHEMBL749215 (1) CHEMBL749216 (1)
CHEMBL749217 (1) CHEMBL749220 (1)
CHEMBL749221 (1) CHEMBL749222 (1)
CHEMBL749223 (1) CHEMBL744152 (1)
CHEMBL747674 (2) CHEMBL747675 (1)
CHEMBL878663 (1) CHEMBL744041 (1)
CHEMBL745519 (1) CHEMBL749268 (1)
CHEMBL749950 (1) CHEMBL752397 (1)
CHEMBL747119 (1) CHEMBL745196 (1)
CHEMBL748452 (2) CHEMBL748456 (2)
CHEMBL752970 (1) CHEMBL748379 (1)
CHEMBL819452 (1) CHEMBL819453 (1)
CHEMBL819473 (1) CHEMBL843757 (1)
CHEMBL849039 (1) CHEMBL850549 (1)
CHEMBL840774 (1) CHEMBL1248508 (1)
CHEMBL1909171 (2)
2 / 0
P11229 Muscarinic acetylcholine receptor M1 Acetylcholine receptor CHEMBL517712 CHEMBL686377 (1) CHEMBL683968 (1)
CHEMBL714431 (1) CHEMBL747398 (1)
CHEMBL743979 (1) CHEMBL749215 (1)
CHEMBL749216 (1) CHEMBL749217 (1)
CHEMBL749220 (1) CHEMBL749221 (1)
CHEMBL749222 (1) CHEMBL749223 (1)
CHEMBL744152 (1) CHEMBL744767 (1)
CHEMBL747674 (2) CHEMBL747675 (1)
CHEMBL744041 (1) CHEMBL749268 (1)
CHEMBL748054 (1) CHEMBL748452 (2)
CHEMBL748456 (2) CHEMBL745744 (1)
CHEMBL748379 (1) CHEMBL819452 (1)
CHEMBL819453 (1) CHEMBL819473 (1)
CHEMBL843757 (1) CHEMBL849039 (1)
CHEMBL840773 (1) CHEMBL1013935 (1)
CHEMBL1016624 (1) CHEMBL1909170 (2)
CHEMBL2166006 (1) CHEMBL2215470 (1)
CHEMBL2215474 (1)
0 / 0
P21554 Cannabinoid receptor 1 Cannabinoid receptor CHEMBL517712 CHEMBL1909122 (2)
0 / 0
P31645 Sodium-dependent serotonin transporter Serotonin CHEMBL517712 CHEMBL1909109 (2)
2 / 0
P04626 Receptor tyrosine-protein kinase erbB-2 TK tyrosine-protein kinase EGFR subfamily CHEMBL517712 CHEMBL1909205 (2)
5 / 10
P20309 Muscarinic acetylcholine receptor M3 Acetylcholine receptor CHEMBL517712 CHEMBL686377 (1) CHEMBL683968 (1)
CHEMBL749215 (1) CHEMBL749216 (1)
CHEMBL749217 (1) CHEMBL749220 (1)
CHEMBL749221 (1) CHEMBL749222 (1)
CHEMBL749223 (1) CHEMBL744152 (1)
CHEMBL747674 (2) CHEMBL747675 (1)
CHEMBL744041 (1) CHEMBL749268 (1)
CHEMBL747818 (1) CHEMBL748452 (2)
CHEMBL748456 (2) CHEMBL748379 (1)
CHEMBL819452 (1) CHEMBL819453 (1)
CHEMBL819473 (1) CHEMBL843757 (1)
CHEMBL850549 (1) CHEMBL840773 (1)
CHEMBL840774 (1) CHEMBL1248509 (1)
CHEMBL1909172 (2)
1 / 0
P21452 Substance-K receptor Neurokinin receptor CHEMBL517712 CHEMBL1909114 (2)
0 / 0
P51679 C-C chemokine receptor type 4 CC chemokine receptor CHEMBL517712 CHEMBL1909125 (2)
0 / 0
P51681 C-C chemokine receptor type 5 CC chemokine receptor CHEMBL517712 CHEMBL1909126 (2)
3 / 0
P50406 5-hydroxytryptamine receptor 6 Serotonin receptor CHEMBL517712 CHEMBL1909108 (2)
0 / 0
P41597 C-C chemokine receptor type 2 CC chemokine receptor CHEMBL517712 CHEMBL1909124 (2)
1 / 0
P28482 Mitogen-activated protein kinase 1 Erk CHEMBL517712 CHEMBL1909200 (2)
0 / 0
P08575 Receptor-type tyrosine-protein phosphatase C Enzyme CHEMBL517712 CHEMBL1909207 (2)
2 / 1
P05177 Cytochrome P450 1A2 Cytochrome P450 1A2 CHEMBL517712 CHEMBL1379091 CHEMBL1741322 (3) CHEMBL1909132 (2)
CHEMBL2071962 (1)
0 / 0
Q92887 Canalicular multispecific organic anion transporter 1 Unclassified protein CHEMBL517712 CHEMBL1006005 (1)
1 / 1
Q96QE3 ATPase family AAA domain-containing protein 5 Unclassified protein CHEMBL1331216 CHEMBL1738588 (1)
0 / 0
O76074 cGMP-specific 3',5'-cyclic phosphodiesterase PDE_5A CHEMBL517712 CHEMBL1909186 (2)
0 / 0
P03372 Estrogen receptor NR3A1 CHEMBL517712 CHEMBL1909145 (2)
1 / 1
P08588 Beta-1 adrenergic receptor Adrenergic receptor CHEMBL517712 CHEMBL1909091 (2)
1 / 0
P22303 Acetylcholinesterase Hydrolase CHEMBL517712 CHEMBL1909212 (2)
1 / 0
P28223 5-hydroxytryptamine receptor 2A Serotonin receptor CHEMBL517712 CHEMBL1909211 (2)
0 / 0
P28335 5-hydroxytryptamine receptor 2C Serotonin receptor CHEMBL517712 CHEMBL1909105 (2)
0 / 0
P35372 Mu-type opioid receptor Opioid receptor CHEMBL517712 CHEMBL1909182 (2)
0 / 0
P08173 Muscarinic acetylcholine receptor M4 Acetylcholine receptor CHEMBL517712 CHEMBL686377 (1) CHEMBL683968 (1)
CHEMBL749215 (1) CHEMBL749216 (1)
CHEMBL749217 (1) CHEMBL749220 (1)
CHEMBL749221 (1) CHEMBL749222 (1)
CHEMBL749223 (1) CHEMBL744152 (1)
CHEMBL747674 (2) CHEMBL747675 (1)
CHEMBL744041 (1) CHEMBL749268 (1)
CHEMBL749860 (1) CHEMBL748452 (2)
CHEMBL748456 (2) CHEMBL748379 (1)
CHEMBL819452 (1) CHEMBL819453 (1)
CHEMBL819473 (1) CHEMBL843757 (1)
CHEMBL1248510 (1) CHEMBL1909173 (2)
0 / 0
P25103 Substance-P receptor Neurokinin receptor CHEMBL517712 CHEMBL1909113 (2)
0 / 0
P25105 Platelet-activating factor receptor PAF receptor CHEMBL517712 CHEMBL1909187 (2)
0 / 0
P33032 Melanocortin receptor 5 Melanocortin receptor CHEMBL517712 CHEMBL1909168 (2)
0 / 0
P19838 Nuclear factor NF-kappa-B p105 subunit Transcription Factor CHEMBL1379091 CHEMBL1614274 (2) CHEMBL1613823 (2)
0 / 0
P33261 Cytochrome P450 2C19 Cytochrome P450 2C19 CHEMBL517712 CHEMBL1379091 CHEMBL1741323 (3) CHEMBL1909134 (2)
CHEMBL2071964 (1)
1 / 1
P08684 Cytochrome P450 3A4 Cytochrome P450 3A4 CHEMBL517712 CHEMBL1379091 CHEMBL1741324 (3) CHEMBL1909138 (2)
CHEMBL2071966 (1) CHEMBL2071967 (1)
0 / 1
P05181 Cytochrome P450 2E1 Cytochrome P450 2E1 CHEMBL517712 CHEMBL1909137 (2)
0 / 0
Q9UNA4 DNA polymerase iota Enzyme CHEMBL1331216 CHEMBL1794483 (1)
0 / 0
P23975 Sodium-dependent noradrenaline transporter Norepinephrine CHEMBL517712 CHEMBL1909094 (2)
1 / 1
P25100 Alpha-1D adrenergic receptor Adrenergic receptor CHEMBL517712 CHEMBL1909087 (2)
0 / 0
P30542 Adenosine receptor A1 Adenosine receptor CHEMBL517712 CHEMBL1909213 (2)
0 / 0
P18089 Alpha-2B adrenergic receptor Adrenergic receptor CHEMBL517712 CHEMBL1909089 (2)
0 / 0
P24557 Thromboxane-A synthase Cytochrome P450 5A1 CHEMBL517712 CHEMBL1909116 (2)
1 / 1
P06239 Tyrosine-protein kinase Lck Src CHEMBL517712 CHEMBL1909206 (2)
0 / 1
P25025 C-X-C chemokine receptor type 2 CXC chemokine receptor CHEMBL517712 CHEMBL1909128 (2)
0 / 0
B2RXH2 Lysine-specific demethylase 4E Enzyme CHEMBL517712 CHEMBL1613914 (1)
0 / 0
Q96KQ7 Histone-lysine N-methyltransferase EHMT2 Enzyme CHEMBL517712 CHEMBL1738442 (1)
0 / 0
O00255 Menin Unclassified protein CHEMBL517712 CHEMBL1614257 (1)
2 / 5
Q03164 Histone-lysine N-methyltransferase 2A Enzyme CHEMBL517712 CHEMBL1614257 (1)
1 / 3
Q13951 Core-binding factor subunit beta Unclassified protein CHEMBL1379091 CHEMBL1613933 (1)
0 / 1
Q01196 Runt-related transcription factor 1 Unclassified protein CHEMBL1379091 CHEMBL1613933 (1)
1 / 6
Q9NY46 Sodium channel protein type 3 subunit alpha SCN alpha, NaV1.x CHEMBL517712 CHEMBL806153 (1)
0 / 0
Q99250 Sodium channel protein type 2 subunit alpha SCN alpha, NaV1.x CHEMBL517712 CHEMBL806153 (1)
2 / 2
P35498 Sodium channel protein type 1 subunit alpha SCN alpha, NaV1.x CHEMBL517712 CHEMBL806153 (1)
3 / 2

Related Disease

Diseases related to proteins in ChEMBL interactions

OMIM (58)

OMIM preferred title UniProt
#100100 Abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism P20309
#103780 Alcohol dependence P08172
P14416
P31645
#614373 Amyotrophic lateral sclerosis 16, juvenile; als16 Q99720
#210900 Bloom syndrome; blm P54132
#602025 Body mass index quantitative trait locus 9; bmiq9 P41968
#300615 Brunner syndrome P21397
#115200 Cardiomyopathy, dilated, 1a; cmd1a P02545
#212112 Cardiomyopathy, dilated, with hypergonadotropic hypogonadism P02545
#605588 Charcot-marie-tooth disease, axonal, type 2b1; cmt2b1 P02545
#162800 Cyclic neutropenia P08246
#612522 Diabetes mellitus, insulin-dependent, 22; iddm22 P51681
#607208 Dravet syndrome P35498
#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
#613721 Epileptic encephalopathy, early infantile, 11; eiee11 Q99250
#615363 Estrogen resistance; estrr P03372
#613659 Gastric cancer P04626
#137215 Gastric cancer, hereditary diffuse; hdgc P04626
#604403 Generalized epilepsy with febrile seizures plus, type 2; gefsp2 P35498
#231095 Ghosal hematodiaphyseal dysplasia; ghdd P24557
#137800 Glioma susceptibility 1; glm1 P04626
#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
#603932 Intervertebral disc disease; idd P14780
#151660 Lipodystrophy, familial partial, type 2; fpld2 P02545
#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
%300852 Mental retardation, x-linked 88; mrx88 P50052
#613073 Metaphyseal anadysplasia 2; mandp2 P14780
#609634 Migraine, familial hemiplegic, 3; fhm3 P35498
#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
#202700 Neutropenia, severe congenital, 1, autosomal dominant; scn1 P08246
#601665 Obesity P32245
#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
#607745 Seizures, benign familial infantile, 3; bfis3 Q99250
#608971 Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive P08575
#609620 Short qt syndrome 1; sqt1 Q12809
#190300 Tremor, hereditary essential, 1; etm1 P35462
#610379 West nile virus, susceptibility to P51681
#112100 Yt blood group antigen P22303

KEGG DISEASE (58)

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)
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)
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)
H01205 Coumarin resistance P11712 (related)
H00025 Penile cancer P14780 (related)
P35354 (related)
H00479 Metaphyseal dysplasias P14780 (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)
H00775 Familial or sporadic hemiplegic migraine P35498 (related)
H00783 Febrile seizures P35498 (related)
H00480 Non-syndromic X-linked mental retardation P50052 (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)
H00002 Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia) Q03164 (related)
H00720 Long QT syndrome Q12809 (related)
H00725 Short QT syndrome Q12809 (related)
H00208 Hyperbilirubinemia Q92887 (related)
H00606 Early infantile epileptic encephalopathy Q99250 (related)
H00806 Benign familial neonatal and infantile epilepsies Q99250 (related)