CYP3A4 (cytochrome P450 family 3 subfamily A member 4)

Gene

• Entrez ID: 1576
• Gene name: Cytochrome P450 family 3 subfamily A member 4
• Gene symbol: CYP3A4
• Synonyms (NCBI Gene): CP33, CP34, CYP3A, CYP3A3, CYPIIIA3, CYPIIIA4, HLP, NF-25, P450C3, P450PCN1, VDDR3
• Disease Acronyms (UniProt): VDDR3
• Chromosome: 7
• Chromosome location: 7q22.1
• Summary: This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein locali

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2740574	C>A,G,T	Drug-response, benign	Upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006510	hsa-miR-27b-3p	Immunoblot, Luciferase reporter assay	19581388
MIRT006510	hsa-miR-27b-3p	Immunoblot, Luciferase reporter assay	19581388
MIRT921473	hsa-miR-1	CLIP-seq
MIRT921474	hsa-miR-106a	CLIP-seq
MIRT921475	hsa-miR-106b	CLIP-seq
MIRT921476	hsa-miR-1185	CLIP-seq
MIRT921477	hsa-miR-1224-5p	CLIP-seq
MIRT921478	hsa-miR-1262	CLIP-seq
MIRT921479	hsa-miR-1304	CLIP-seq
MIRT921480	hsa-miR-17	CLIP-seq
MIRT921481	hsa-miR-206	CLIP-seq
MIRT921482	hsa-miR-20a	CLIP-seq
MIRT921483	hsa-miR-20b	CLIP-seq
MIRT921484	hsa-miR-2117	CLIP-seq
MIRT921485	hsa-miR-2392	CLIP-seq
MIRT921486	hsa-miR-326	CLIP-seq
MIRT921487	hsa-miR-330-5p	CLIP-seq
MIRT921488	hsa-miR-3545-3p	CLIP-seq
MIRT921489	hsa-miR-3545-5p	CLIP-seq
MIRT921490	hsa-miR-3605-5p	CLIP-seq
MIRT921491	hsa-miR-3609	CLIP-seq
MIRT921492	hsa-miR-3673	CLIP-seq
MIRT921493	hsa-miR-3679-5p	CLIP-seq
MIRT921494	hsa-miR-3915	CLIP-seq
MIRT921495	hsa-miR-4259	CLIP-seq
MIRT921496	hsa-miR-4273	CLIP-seq
MIRT921497	hsa-miR-4299	CLIP-seq
MIRT921498	hsa-miR-431	CLIP-seq
MIRT921499	hsa-miR-4455	CLIP-seq
MIRT921500	hsa-miR-4456	CLIP-seq
MIRT921501	hsa-miR-4635	CLIP-seq
MIRT921502	hsa-miR-4680-5p	CLIP-seq
MIRT921503	hsa-miR-4689	CLIP-seq
MIRT921504	hsa-miR-4694-5p	CLIP-seq
MIRT921505	hsa-miR-4699-3p	CLIP-seq
MIRT921506	hsa-miR-4701-3p	CLIP-seq
MIRT921507	hsa-miR-4717-5p	CLIP-seq
MIRT921508	hsa-miR-4755-3p	CLIP-seq
MIRT921509	hsa-miR-4796-3p	CLIP-seq
MIRT921510	hsa-miR-511	CLIP-seq
MIRT921511	hsa-miR-519d	CLIP-seq
MIRT921512	hsa-miR-548a-5p	CLIP-seq
MIRT921513	hsa-miR-548ab	CLIP-seq
MIRT921514	hsa-miR-548ah	CLIP-seq
MIRT921515	hsa-miR-548ak	CLIP-seq
MIRT921516	hsa-miR-548b-5p	CLIP-seq
MIRT921517	hsa-miR-548c-5p	CLIP-seq
MIRT921518	hsa-miR-548d-5p	CLIP-seq
MIRT921519	hsa-miR-548h	CLIP-seq
MIRT921520	hsa-miR-548i	CLIP-seq
MIRT921521	hsa-miR-548j	CLIP-seq
MIRT921522	hsa-miR-548q	CLIP-seq
MIRT921523	hsa-miR-548w	CLIP-seq
MIRT921524	hsa-miR-548y	CLIP-seq
MIRT921525	hsa-miR-559	CLIP-seq
MIRT921526	hsa-miR-593	CLIP-seq
MIRT921527	hsa-miR-609	CLIP-seq
MIRT921528	hsa-miR-613	CLIP-seq
MIRT921529	hsa-miR-659	CLIP-seq
MIRT921530	hsa-miR-93	CLIP-seq
MIRT921531	hsa-miR-133a	CLIP-seq
MIRT921532	hsa-miR-133b	CLIP-seq
MIRT921533	hsa-miR-342-3p	CLIP-seq
MIRT921488	hsa-miR-3545-3p	CLIP-seq
MIRT921534	hsa-miR-3937	CLIP-seq
MIRT921498	hsa-miR-431	CLIP-seq
MIRT921501	hsa-miR-4635	CLIP-seq
MIRT921502	hsa-miR-4680-5p	CLIP-seq
MIRT921510	hsa-miR-511	CLIP-seq
MIRT921535	hsa-miR-941	CLIP-seq
MIRT1973029	hsa-miR-122	CLIP-seq
MIRT1973030	hsa-miR-1912	CLIP-seq
MIRT1973031	hsa-miR-216a	CLIP-seq
MIRT1973032	hsa-miR-4463	CLIP-seq
MIRT1973033	hsa-miR-4494	CLIP-seq
MIRT2208678	hsa-miR-1229	CLIP-seq
MIRT2208679	hsa-miR-1253	CLIP-seq
MIRT2208680	hsa-miR-150	CLIP-seq
MIRT1973030	hsa-miR-1912	CLIP-seq
MIRT2208681	hsa-miR-2114	CLIP-seq
MIRT2208682	hsa-miR-24	CLIP-seq
MIRT2208683	hsa-miR-2467-3p	CLIP-seq
MIRT2208684	hsa-miR-3159	CLIP-seq
MIRT2208685	hsa-miR-4438	CLIP-seq
MIRT1973032	hsa-miR-4463	CLIP-seq
MIRT1973033	hsa-miR-4494	CLIP-seq
MIRT2208686	hsa-miR-5095	CLIP-seq
MIRT921535	hsa-miR-941	CLIP-seq
MIRT1973029	hsa-miR-122	CLIP-seq
MIRT2208678	hsa-miR-1229	CLIP-seq
MIRT1973030	hsa-miR-1912	CLIP-seq
MIRT1973031	hsa-miR-216a	CLIP-seq
MIRT2386669	hsa-miR-3168	CLIP-seq
MIRT1973032	hsa-miR-4463	CLIP-seq
MIRT1973033	hsa-miR-4494	CLIP-seq
MIRT1973029	hsa-miR-122	CLIP-seq
MIRT2208678	hsa-miR-1229	CLIP-seq
MIRT1973030	hsa-miR-1912	CLIP-seq
MIRT1973031	hsa-miR-216a	CLIP-seq
MIRT2512488	hsa-miR-3135	CLIP-seq
MIRT1973032	hsa-miR-4463	CLIP-seq
MIRT1973033	hsa-miR-4494	CLIP-seq
MIRT2512489	hsa-miR-4735-5p	CLIP-seq
MIRT2512490	hsa-miR-599	CLIP-seq
MIRT1973029	hsa-miR-122	CLIP-seq
MIRT1973030	hsa-miR-1912	CLIP-seq
MIRT2512488	hsa-miR-3135	CLIP-seq
MIRT1973032	hsa-miR-4463	CLIP-seq
MIRT1973033	hsa-miR-4494	CLIP-seq
MIRT2512489	hsa-miR-4735-5p	CLIP-seq
MIRT2512490	hsa-miR-599	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CEBPA	Unknown	15100175
DBP	Activation	18004209
FOXA3	Unknown	19706729
FOXM1	Unknown	15100175
HDAC1	Unknown	21996064
HNF4A	Unknown	12514743
MYC	Unknown	14575816
NCOA6	Unknown	21292004
NR1I2	Activation	12601364;15269186;18540626;19232333;21342487
NR1I2	Unknown	11991950;12606758;15100175;15650019;16608838;18096673;20171174;21292004;21920351;23807564
RELA	Unknown	16608838
RXRA	Unknown	16608838;18400206
SP1	Unknown	15100175
VDR	Unknown	11723248
VDR	Activation	12147248;19712670
VDR	Unknown	11991950;15205382;15358113;18400206;22939842

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002933	Process	Lipid hydroxylation	IDA	14559847
GO:0004497	Function	Monooxygenase activity	IDA	15327587
GO:0004497	Function	Monooxygenase activity	ISS
GO:0005496	Function	Steroid binding	IDA	15256616
GO:0005506	Function	Iron ion binding	IDA	15256616
GO:0005515	Function	Protein binding	IPI	26988023, 32814053
GO:0005737	Component	Cytoplasm	IDA	18446064
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	TAS	2492107
GO:0006706	Process	Steroid catabolic process	IMP	18356043
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0008202	Process	Steroid metabolic process	IBA	21873635
GO:0008202	Process	Steroid metabolic process	IDA	14559847
GO:0008202	Process	Steroid metabolic process	IMP	3259858
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008209	Process	Androgen metabolic process	TAS	19651758
GO:0008210	Process	Estrogen metabolic process	IDA	11555828, 12865317, 14559847
GO:0008395	Function	Steroid hydroxylase activity	IBA	21873635
GO:0008395	Function	Steroid hydroxylase activity	IMP	18356043
GO:0008401	Function	Retinoic acid 4-hydroxylase activity	IDA	11093772
GO:0009822	Process	Alkaloid catabolic process	IDA	15039299
GO:0016021	Component	Integral component of membrane	IEA
GO:0016098	Process	Monoterpenoid metabolic process	IDA	16401082
GO:0016491	Function	Oxidoreductase activity	IDA	15039299, 16401082, 19219744
GO:0017144	Process	Drug metabolic process	IDA	15327587, 19219744
GO:0019825	Function	Oxygen binding	TAS	2492107, 3460094
GO:0019899	Function	Enzyme binding	IPI	15680923
GO:0020037	Function	Heme binding	IEA
GO:0030343	Function	Vitamin D3 25-hydroxylase activity	IDA	15546903
GO:0034875	Function	Caffeine oxidase activity	IDA	18619574
GO:0036378	Process	Calcitriol biosynthetic process from calciol	IEA
GO:0042359	Process	Vitamin D metabolic process	IC	15546903
GO:0042572	Process	Retinol metabolic process	IDA	10681376
GO:0042572	Process	Retinol metabolic process	IEA
GO:0042573	Process	Retinoic acid metabolic process	IDA	11093772
GO:0042737	Process	Drug catabolic process	IDA	15039299
GO:0042737	Process	Drug catabolic process	IMP	18356043
GO:0042738	Process	Exogenous drug catabolic process	IDA	18619574
GO:0042759	Process	Long-chain fatty acid biosynthetic process	TAS
GO:0043231	Component	Intracellular membrane-bounded organelle	TAS	3460094
GO:0046483	Process	Heterocycle metabolic process	IDA	15327587
GO:0050591	Function	Quinine 3-monooxygenase activity	IEA
GO:0050649	Function	Testosterone 6-beta-hydroxylase activity	IBA	21873635
GO:0050649	Function	Testosterone 6-beta-hydroxylase activity	IMP	3259858
GO:0070330	Function	Aromatase activity	IEA
GO:0070576	Function	Vitamin D 24-hydroxylase activity	IDA	15546903
GO:0070989	Process	Oxidative demethylation	IBA	21873635
GO:0070989	Process	Oxidative demethylation	IDA	15039299, 18619574
GO:0101020	Function	Estrogen 16-alpha-hydroxylase activity	IBA	21873635
GO:0101020	Function	Estrogen 16-alpha-hydroxylase activity	IDA	11555828, 14559847
GO:0101021	Function	Estrogen 2-hydroxylase activity	IDA	12865317
GO:0102320	Function	1,8-cineole 2-exo-monooxygenase activity	IEA

Other IDs

• MIM: 124010
• HGNC: 2637
• e!Ensembl: ENSG00000160868

Protein

• UniProt ID: P08684
• Protein name: Cytochrome P450 3A4 (EC 1.14.14.1) (1,4-cineole 2-exo-monooxygenase) (1,8-cineole 2-exo-monooxygenase) (EC 1.14.14.56) (Albendazole monooxygenase (sulfoxide-forming)) (EC 1.14.14.73) (Albendazole sulfoxidase) (CYPIIIA3) (CYPIIIA4) (Cholesterol 25-hydroxyl
• Protein function: A cytochrome P450 monooxygenase involved in the metabolism of sterols, steroid hormones, retinoids and fatty acids (PubMed:10681376, PubMed:11093772, PubMed:11555828, PubMed:12865317, PubMed:14559847, PubMed:15373842, PubMed:15764715, PubMed:199
• PDB: 1TQN, 1W0E, 1W0F, 1W0G, 2J0D, 2V0M, 3NXU, 3TJS, 3UA1, 4D6Z, 4D75, 4D78, 4D7D, 4I3Q, 4I4G, 4I4H, 4K9T, 4K9U, 4K9V, 4K9W, 4K9X, 4NY4, 5A1P, 5A1R, 5G5J, 5TE8, 5VC0, 5VCC, 5VCD, 5VCE, 5VCG, 6BCZ, 6BD5, 6BD6, 6BD7, 6BD8, 6BDH, 6BDI, 6BDK, 6BDM, 6OO9, 6OOA, 6OOB, 7KS8, 7KSA, 7KVH, 7KVI, 7KVJ, 7KVK, 7KVM, 7KVN
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00067	p450	38 → 493	Cytochrome P450	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:18545703, PubMed:19359404). Also ex
• Sequence:

  MALIPDLAMETWLLLAVSLVLLYLYGTHSHGLFKKLGIPGPTPLPFLGNILSYHKGFCMF
  DMECHKKYGKVWGFYDGQQPVLAITDPDMIKTVLVKECYSVFTNRRPFGPVGFMKSAISI
  AEDEEWKRLRSLLSPTFTSGKLKEMVPIIAQYGDVLVRNLRREAETGKPVTLKDVFGAYS
  MDVITSTSFGVNIDSLNNPQDPFVENTKKLLRFDFLDPFFLSITVFPFLIPILEVLNICV
  FPREVTNFLRKSVKRMKESRLEDTQKHRVDFLQLMIDSQNSKETESHKALSDLELVAQSI
  IFIFAGYETTSSVLSFIMYELATHPDVQQKLQEEIDAVLPNKAPPTYDTVLQMEYLDMVV
  NETLRLFPIAMRLERVCKKDVEINGMFIPKGVVVMIPSYALHRDPKYWTEPEKFLPERFS
  KKNKDNIDPYIYTPFGSGPRNCIGMRFALMNMKLALIRVLQNFSFKPCKETQIPLKLSLG
  GLLQPEKPVVLKVESRDGTVSGA

• Sequence length: 503

Pathways

KEGG:

Steroid hormone biosynthesis
Linoleic acid metabolism
Retinol metabolism
Metabolism of xenobiotics by cytochrome P450
Drug metabolism - cytochrome P450
Drug metabolism - other enzymes
Metabolic pathways
Bile secretion
Chemical carcinogenesis - DNA adducts
Chemical carcinogenesis - receptor activation

Reactome:

Xenobiotics
Aflatoxin activation and detoxification
Biosynthesis of maresin-like SPMs

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	15496535
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	15496535
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	15496535
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	15496535
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	19591893

Unknown
Disease term	Disease name	Evidence	References	Source
Torsades de pointes	Torsades de Pointes		15875343	ClinVar
Rickets	vitamin D-dependent rickets, type 3			GenCC
Gout	Gout			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Acidosis	Associate	34606062
Acne Vulgaris	Associate	37864393
Acute Coronary Syndrome	Associate	28179614
Acute Kidney Injury	Associate	15625333
Adenocarcinoma of Lung	Associate	28381170, 37686184
Adenoma	Inhibit	16281975
Alcoholism	Associate	38117809
Anemia	Associate	25881102
Antley Bixler Syndrome Phenotype	Associate	20844025, 22252407
Asthma	Associate	23290512
Barrett Esophagus	Associate	10933049
Breast Neoplasms	Associate	14970873, 15657517, 19214745, 19242060, 19746521, 20844025, 21402692, 22984610, 24887515, 25526449, 27956118, 28418906, 32351149, 32456253, 38215156
Breast Neoplasms	Inhibit	19214745
Breast Neoplasms	Stimulate	24870798, 27956118
Calcinosis Cutis	Inhibit	22971343
Carcinogenesis	Associate	20187983, 20715157, 21342487, 9849581
Carcinoma Ductal Breast	Associate	19242060
Carcinoma Hepatocellular	Associate	22447115, 25024626, 25101946, 26377104, 27113703, 30680535, 31322260, 31462277, 32106230, 32955797, 34257549, 34315286, 34337056, 34737790, 35078445, 36091935, 37089050
Carcinoma Non Small Cell Lung	Associate	32464168
Carcinoma Pancreatic Ductal	Associate	37920921
Carcinoma Squamous Cell	Stimulate	17373732
Cardiovascular Diseases	Associate	21199372
Celiac Disease	Associate	21378598, 36855819
Cerebral Infarction	Associate	27133299, 32126981
Chemical and Drug Induced Liver Injury	Associate	33399082
Cholangitis Sclerosing	Associate	28008998
Cholestasis	Associate	16455805, 28008998
Colitis Ulcerative	Associate	26412221, 33886687
Colorectal Neoplasms	Associate	21342487, 31608899, 33050883
Colorectal Neoplasms	Inhibit	31740522
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Associate	18957504
Coronary Disease	Associate	21199372
COVID 19	Associate	34142560, 39884806
COVID 19	Inhibit	34473836
Coxa Magna	Associate	27858915
Crohn Disease	Inhibit	27013401, 35872023
Crohn Disease	Associate	33278326
Cystic Fibrosis	Associate	24035278
Diabetes Mellitus	Associate	21323901, 33053111
Diabetes Mellitus	Inhibit	29792708
Diabetes Mellitus Type 2	Associate	29439084, 36767268
Diabetes Mellitus Type 2	Inhibit	36734157
Disease	Inhibit	11422003
Drug Related Side Effects and Adverse Reactions	Associate	21964476, 23229783, 26964624, 27113703, 30320358, 34606062, 35174659, 35332831, 38157645
Edema	Associate	28335376
Epilepsy	Associate	21294720
Epilepsy Familial Mesial Temporal Lobe	Associate	28276448
Esophageal Squamous Cell Carcinoma	Associate	17373732
Fatigue	Associate	27720787
Fibrosis	Inhibit	12532467, 19212316
Gastritis Atrophic	Associate	38448381
Gastrointestinal Stromal Tumors	Associate	28335376
Glioblastoma	Associate	22429982
Gliosis	Associate	20074231
Heart Diseases	Associate	38117809
Hemolytic Uremic Syndrome	Stimulate	23965431
Hepatitis Viral Human	Associate	37512019
Hepatolenticular Degeneration	Associate	34117631
HIV Infections	Associate	20084375, 21041912, 26902756
HIV Infections	Stimulate	37512019
HIV Seropositivity	Associate	19562254
Hypercalcemia Infantile	Associate	36990163
Hypercholesterolemia	Associate	35839255
Hyperglycemia	Associate	28727815
Hypertension	Associate	18825162, 30910847, 36011305, 36982571
Hypertensive Nephropathy	Associate	27756246
Hypospadias	Associate	32515122
Hypoxia	Inhibit	30320358
Hypoxia Brain	Stimulate	21566342
Inflammation	Associate	17576808, 31101589, 32641296, 35651879, 40613206
Inflammation	Inhibit	33278326
Intestinal Diseases	Associate	9849581
Intestinal Neoplasms	Associate	31773688
Kidney Diseases	Associate	35135554
Kidney Failure Chronic	Associate	23965431, 26773964
Leukemia	Inhibit	21595477
Leukemia	Associate	9789061
Leukemia Lymphocytic Chronic B Cell	Associate	37706370, 40613206
Leukemia Myeloid	Associate	22785256
Leukemia Myeloid Acute	Associate	30898762, 35332831
Lipoma	Inhibit	28127194
Liver Cirrhosis	Associate	12532467, 24058572
Liver Diseases	Associate	12532467, 16455805
Liver Failure	Associate	28008998
Lung Neoplasms	Associate	24085358, 32464168
Lymphoma T Cell Peripheral	Associate	17634410
Mammary Neoplasms Animal	Associate	14970873
Medulloblastoma	Associate	30320358
Melanoma	Associate	30200275
Melanosis	Associate	26238215
Metabolic Syndrome	Associate	33277605
Mineralocorticoid Deficiency Isolated	Associate	18957504
Miosis	Associate	21346758, 21562488
Mucositis	Associate	21378598
Multiple Myeloma	Associate	33170343, 36581339
Neoplasm Metastasis	Stimulate	25670065
Neoplasms	Associate	11501173, 12237780, 12630977, 15657517, 16281975, 20187983, 20715157, 21566342, 22050110, 24603336, 24699256, 24819355, 24870798, 25288013, 25337833, 25526449, 25644970, 26964624, 29689707, 30148168, 30367352, 33053111, 34315286, 37958656, 38117809, 38256136, 38448381, 7547441, 9789061
Neurotoxicity Syndromes	Associate	20345925, 23640974, 25656284
Non alcoholic Fatty Liver Disease	Associate	19651758, 20485142, 28127194, 30248338, 37089050
Non alcoholic Fatty Liver Disease	Inhibit	29792708
Obesity	Associate	22299599, 33277605
Osteomalacia	Associate	22562045, 23212742
Osteoporosis	Associate	22562045
Ototoxicity	Associate	22785256
Ovarian Diseases	Associate	19127255
Ovarian Dysgenesis 2	Associate	19376514
Ovarian Neoplasms	Associate	19127255
Pancreatic Neoplasms	Associate	33053111
Peptic Ulcer	Associate	27611887
Peripheral Nervous System Diseases	Associate	12846892
Personality Disorders	Associate	25337833
Pneumonia	Associate	28727815
Porphyria Acute Intermittent	Associate	30808393
Postoperative Hemorrhage	Associate	31773688
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	12846892, 17761709
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Stimulate	17761709
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Inhibit	30920135
Prostatic Hyperplasia	Associate	12644831, 19921206
Prostatic Neoplasms	Associate	12644831, 21493872, 22050110, 24924803, 25337833, 27164191, 36688864, 38297388
Pulmonary Disease Chronic Obstructive	Associate	32738269
Renal Insufficiency Chronic	Associate	26800425, 37522799
Respiratory Insufficiency	Associate	31773688
Respiratory Tract Infections	Associate	39884806
Sarcoma Ewing	Associate	25670065
Seizures	Associate	29679912, 31243719
Stevens Johnson Syndrome	Associate	25876064
Stomach Neoplasms	Associate	20187983, 31773688, 38448381, 9569036
Thrombocytopenia	Associate	25881102
Triple Negative Breast Neoplasms	Associate	38157645
Vitamin D Dependent Rickets Type 2A	Associate	29461981
Weight Loss	Associate	20485142, 36982571
Xanthomatosis Cerebrotendinous	Associate	37679568