CYP2D6 (cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene))

Gene

• Entrez ID: 1565
• Gene name: Cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene)
• Gene symbol: CYP2D6
• Synonyms (NCBI Gene): CPD6, CYP2D, CYP2D7AP, CYP2D7BP, CYP2D7P2, CYP2D8P2, CYP2DL1, CYPIID6, P450-DB1, P450C2D, P450DB1
• Chromosome: 22
• Chromosome location: 22q13.2
• Summary: This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein local

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs16947	G>A,T	Likely-benign, benign, drug-response	Coding sequence variant, missense variant
rs1058172	C>G,T	Drug-response	Coding sequence variant, missense variant
rs1135832	C>A,G,T	Drug-response	Coding sequence variant, synonymous variant
rs1135838	A>G	Drug-response	Coding sequence variant, missense variant
rs1135840	C>G	Likely-benign, benign, other, drug-response	Coding sequence variant, missense variant
rs2004511	T>A,C,G	Drug-response	Intron variant
rs28371725	C>T	Likely-benign, other, drug-response	Intron variant
rs28371729	G>A,T	Drug-response	Intron variant
rs28371737	G>A	Drug-response	Downstream transcript variant
rs28371738	G>A,C	Drug-response	Downstream transcript variant
rs61737946	C>T	Drug-response	Coding sequence variant, missense variant
rs78762568	C>G,T	Drug-response	Coding sequence variant, missense variant
rs267608319	C>T	Drug-response	Coding sequence variant, missense variant
rs372708040	A>G	Drug-response	Synonymous variant, coding sequence variant
rs730882170	CACATCCGGATGTAGGATC>-	Drug-response	Frameshift variant, coding sequence variant
rs730882251	G>A	Drug-response	Coding sequence variant, missense variant
rs759070183	C>T	Drug-response	Synonymous variant, coding sequence variant
rs768552222	C>G	Drug-response	Intron variant
rs770112850	A>G	Drug-response	Intron variant
rs771263462	G>A	Drug-response	Synonymous variant, coding sequence variant
rs773065145	C>T	Drug-response	Intron variant
rs959768306	A>G	Drug-response	Intron variant
rs1252450087	T>A,C	Drug-response	Downstream transcript variant
rs1252997755	C>T	Drug-response	Intron variant
rs1261231971	A>G	Drug-response	Intron variant
rs1471668315	A>C,G	Drug-response	Intron variant
rs1569019727	G>A	Drug-response	Coding sequence variant, stop gained
rs1569020753	C>T	Drug-response	Synonymous variant, coding sequence variant
rs1602563541	C>T	Drug-response	Downstream transcript variant
rs1602563653	T>C	Drug-response	Downstream transcript variant
rs1602563686	A>G	Drug-response	Downstream transcript variant
rs1602563722	T>A	Drug-response	Downstream transcript variant
rs1602563763	T>C	Drug-response	Downstream transcript variant
rs1602563935	A>G	Drug-response	Downstream transcript variant
rs1602564163	A>T	Drug-response	Downstream transcript variant
rs1602564412	A>G	Drug-response	3 prime UTR variant
rs1602564450	T>C	Drug-response	3 prime UTR variant
rs1602565522	C>T	Drug-response	Splice acceptor variant
rs1602565749	T>C	Drug-response	Intron variant
rs1602565818	A>G	Drug-response	Intron variant
rs1602566009	A>T	Drug-response	Missense variant, coding sequence variant
rs1602566050	T>C	Drug-response	Missense variant, coding sequence variant
rs1602566282	G>A	Drug-response	Missense variant, coding sequence variant
rs1602566813	G>A	Drug-response	Intron variant
rs1602567334	C>T	Drug-response	Intron variant
rs1602567530	T>C	Drug-response	Intron variant
rs1602568040	C>T	Drug-response	Intron variant
rs1602568220	T>C	Drug-response	Intron variant
rs1602568885	T>C	Drug-response	Missense variant, coding sequence variant
rs1602570163	T>C	Drug-response	Intron variant
rs1602570291	T>G	Drug-response	Intron variant
rs1602570404	T>C	Drug-response	Intron variant
rs1602570688	A>G	Drug-response	Missense variant, coding sequence variant
rs1602570721	G>A	Drug-response	Synonymous variant, coding sequence variant
rs1602571142	C>T	Drug-response	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029578	hsa-miR-26b-5p	Microarray	19088304

Transcription factors

Transcription factor	Regulation	Reference
HNF4A	Activation	11752221
HNF4G	Activation	11752221

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004497	Function	Monooxygenase activity	IDA	15327587, 19651758
GO:0005506	Function	Iron ion binding	IEA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA	19438707
GO:0005783	Component	Endoplasmic reticulum	TAS	19438707
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006082	Process	Organic acid metabolic process	IBA	21873635
GO:0006805	Process	Xenobiotic metabolic process	IBA	21873635
GO:0006805	Process	Xenobiotic metabolic process	TAS	19438707
GO:0008202	Process	Steroid metabolic process	IMP	18356043
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008210	Process	Estrogen metabolic process	IDA	12865317
GO:0008395	Function	Steroid hydroxylase activity	IBA	21873635
GO:0009804	Process	Coumarin metabolic process	IDA	19438707
GO:0009820	Process	Alkaloid metabolic process	IDA	19651758
GO:0009822	Process	Alkaloid catabolic process	IDA	15039299
GO:0016098	Process	Monoterpenoid metabolic process	IDA	16401082
GO:0016491	Function	Oxidoreductase activity	IDA	15039299, 16401082, 19219744
GO:0016712	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	IBA	21873635
GO:0017144	Process	Drug metabolic process	IDA	19219744
GO:0017144	Process	Drug metabolic process	IMP	18356043
GO:0019369	Process	Arachidonic acid metabolic process	IBA	21873635
GO:0020037	Function	Heme binding	IBA	21873635
GO:0020037	Function	Heme binding	IDA	16352597
GO:0033076	Process	Isoquinoline alkaloid metabolic process	IDA	19448135
GO:0042572	Process	Retinol metabolic process	IDA	10681376
GO:0042572	Process	Retinol metabolic process	IEA
GO:0042737	Process	Drug catabolic process	IDA	15039299
GO:0042738	Process	Exogenous drug catabolic process	IBA	21873635
GO:0042759	Process	Long-chain fatty acid biosynthetic process	TAS
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0046483	Process	Heterocycle metabolic process	IDA	15327587, 19651758
GO:0051100	Process	Negative regulation of binding	IDA	19448135
GO:0062187	Function	Anandamide 8,9 epoxidase activity	IDA	21289075
GO:0062188	Function	Anandamide 11,12 epoxidase activity	IDA	21289075
GO:0062189	Function	Anandamide 14,15 epoxidase activity	IDA	21289075
GO:0070989	Process	Oxidative demethylation	IDA	15039299, 19438707
GO:0090350	Process	Negative regulation of cellular organofluorine metabolic process	IDA	19448135

Other IDs

• MIM: 124030
• HGNC: 2625
• e!Ensembl: ENSG00000100197

Protein

• UniProt ID: P10635
• Protein name: Cytochrome P450 2D6 (EC 1.14.14.-) (CYPIID6) (Cholesterol 25-hydroxylase) (Cytochrome P450-DB1) (Debrisoquine 4-hydroxylase)
• Protein function: A cytochrome P450 monooxygenase involved in the metabolism of fatty acids, steroids and retinoids (PubMed:18698000, PubMed:19965576, PubMed:20972997, PubMed:21289075, PubMed:21576599). Mechanistically, uses molecular oxygen inserting one oxygen
• PDB: 2F9Q, 3QM4, 3TBG, 3TDA, 4WNT, 4WNU, 4WNV, 4WNW, 4XRY, 4XRZ, 5TFT, 5TFU, 6CSB, 6CSD
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00067	p450	34 → 494	Cytochrome P450	Domain

• Sequence:

  MGLEALVPLAVIVAIFLLLVDLMHRRQRWAARYPPGPLPLPGLGNLLHVDFQNTPYCFDQ
  LRRRFGDVFSLQLAWTPVVVLNGLAAVREALVTHGEDTADRPPVPITQILGFGPRSQGVF
  LARYGPAWREQRRFSVSTLRNLGLGKKSLEQWVTEEAACLCAAFANHSGRPFRPNGLLDK
  AVSNVIASLTCGRRFEYDDPRFLRLLDLAQEGLKEESGFLREVLNAVPVLLHIPALAGKV
  LRFQKAFLTQLDELLTEHRMTWDPAQPPRDLTEAFLAEMEKAKGNPESSFNDENLRIVVA
  DLFSAGMVTTSTTLAWGLLLMILHPDVQRRVQQEIDDVIGQVRRPEMGDQAHMPYTTAVI
  HEVQRFGDIVPLGVTHMTSRDIEVQGFRIPKGTTLITNLSSVLKDEAVWEKPFRFHPEHF
  LDAQGHFVKPEAFLPFSAGRRACLGEPLARMELFLFFTSLLQHFSFSVPTGQPRPSHHGV
  FAFLVSPSPYELCAVPR

• Sequence length: 497

Pathways

KEGG:

Metabolism of xenobiotics by cytochrome P450
Drug metabolism - cytochrome P450
Endocrine resistance
Serotonergic synapse

Reactome:

Fatty acids
Miscellaneous substrates
Xenobiotics
CYP2E1 reactions
Biosynthesis of maresin-like SPMs

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Alzheimer disease	Familial Alzheimer Disease (FAD), Alzheimer Disease, Late Onset, Alzheimer Disease, Early Onset, Alzheimer`s Disease, Alzheimer`s Disease, Focal Onset	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316	7574463
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	19597703
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	19597703
Epilepsy	Epilepsy, Tonic-Clonic, Familial, Epilepsy, Tonic-Clonic, Symptomatic	rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532	16835697
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	19597703
Parkinson disease	Parkinson Disease	rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121918104, rs1589451049, rs104893877, rs104893878, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106	14991823, 15174030
Schizophrenia	Schizophrenia, Schizophrenia and related disorders	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	20041956, 24739668, 21142916, 23066770, 21157400

Unknown
Disease term	Disease name	Evidence	References	Source
Mental depression	Mental Depression, Depressive disorder, Unipolar Depression, Major Depressive Disorder		21192344, 23541126, 21926427, 22638694, 23737191, 24660534, 23081704, 23734807, 21861666, 24014145, 24528284	ClinVar
Insomnia	Insomnia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Acne Vulgaris	Associate	37864393
Adenomatous Polyposis Coli	Associate	11523314
Akathisia Drug Induced	Associate	24074484, 38377518
Alcoholic Intoxication	Associate	15625333
Alzheimer Disease	Associate	19738170, 26603528, 31064198, 34120801
Anemia Aplastic	Associate	10050706
Anemia Sickle Cell	Associate	19357842, 23619115, 27335380
Anxiety Disorders	Associate	37686266, 38493365
Arrhythmias Cardiac	Associate	38138160
Arthritis	Associate	22180068
Atrial Fibrillation	Associate	31606278
Attention Deficit Disorder with Hyperactivity	Associate	26660002, 33048453, 33167920, 35997001
Autism Spectrum Disorder	Associate	24828442
Back Pain	Associate	22180068
Basal Ganglia Diseases	Associate	30212929, 34407866
Bipolar Disorder	Associate	25329115, 26871771, 30212929
Bradycardia	Associate	24518395
Breast Neoplasms	Associate	16815318, 18294285, 18407954, 18423013, 18445827, 18794098, 19809024, 20081063, 20120834, 20124171, 20700120, 21187922, 21325141, 21480951, 21517255, 21860550, 22152167, 22183189, 22395644, 22560561, 22638694, 23167378, 23213055, 23922954, 23958736, 24033728, 24457521, 24682508, 25296365, 25490892, 25714002, 26369533, 26434912, 27837635, 29183390, 29385237, 29479969, 31800347, 31821071, 32713032, 32813313, 33369460, 34196110, 35197553, 36243690, 37011481, 37337448, 37591782, 39749373
Carcinogenesis	Associate	16611538, 40026294
Carcinoma Basal Cell	Associate	16582078, 9077484
Carcinoma Hepatocellular	Associate	15484318, 25024626, 27203676, 34412629
Carcinoma Non Small Cell Lung	Associate	23207012, 34013324
Carcinoma Ovarian Epithelial	Associate	8956789
Carcinoma Squamous Cell	Associate	37096763
Cardiomyopathies	Associate	16487226
Cardiotoxicity	Associate	38547766
Chemical and Drug Induced Liver Injury	Associate	35801736
Cognition Disorders	Associate	20727252
Conversion Disorder	Associate	26232141
Crisponi syndrome	Associate	34284099
Cystic Fibrosis	Associate	17042942
Death	Associate	27335380, 31609742, 35286517
Depressive Disorder	Associate	22638694
Diabetes Mellitus	Associate	34828364
Diabetes Mellitus Type 2	Associate	29439084, 36767268
Distal myopathy Nonaka type	Associate	32813313, 39432161
Drug Metabolism Poor CYP2D6 Related	Associate	21614669
Drug Overdose	Associate	21614669
Drug Related Side Effects and Adverse Reactions	Associate	20038957, 20305604, 21614669, 24253372, 24828442, 29137046, 29858578, 30212929, 30864366, 35174659
Dyskinesia Drug Induced	Associate	24595968, 32969762
Dystonia	Associate	16702617, 34407866
Endocrine System Diseases	Associate	34284099
Essential Hypertension	Associate	29549925
Exanthema	Associate	23207012
Extranodal Extension	Associate	21187922
Fibrosis	Associate	27203676
Flushing	Associate	22395644, 22735900
Gait Ataxia	Associate	20884673
Glucosephosphate Dehydrogenase Deficiency	Associate	31383656
Head and Neck Neoplasms	Associate	22531512, 33131142
Heart Defects Congenital	Associate	34115022
Heart Diseases	Associate	17329852
Heart Failure	Associate	17978490, 20686235, 27665326, 28181117, 37952358
Hemangioma capillary infantile	Associate	32219146
Hepatitis Autoimmune	Associate	15000871, 2466049, 3186722
HIV Infections	Associate	20084375
Hot Flashes	Associate	19153830, 22723326, 34284099
Hypercholesterolemia	Associate	40532247
Hyperprolactinemia	Associate	31520576
Hypertension	Associate	21353244, 35342886, 37952358
Hypomagnesemia 5 Renal with Ocular Involvement	Associate	36940959
Infertility Male	Associate	34806654
Inflammation	Associate	34013324, 36926335
Intestinal Atresia	Stimulate	24367646
Intestinal Neoplasms	Associate	31773688
Jaw Cysts	Associate	16582078
Kidney Diseases	Associate	34204223
Kidney Failure Chronic	Associate	12848777
Leukemia Myeloid Acute	Associate	16493615
Leukemia T Cell	Associate	10383893
Leukopenia	Associate	29071720
Lewy Body Disease	Associate	8916107
Liver Failure	Associate	23207012
Liver Failure Acute	Associate	31609742
Lung Diseases Interstitial	Associate	32316326
Lung Neoplasms	Stimulate	31264381
Lung Neoplasms	Associate	31264381, 7908263, 9439147
Lupus Erythematosus Systemic	Associate	36940959
Lymphatic Metastasis	Associate	23213055
Malaria Vivax	Associate	29357870, 31383656, 35247953, 36508454
Mental Disorders	Associate	34284099, 38076663
Mental Retardation X Linked 16	Associate	32845723
Metabolic Diseases	Associate	30212929
Mitral Valve Insufficiency	Associate	30864366
Mixed Tumor Malignant	Associate	29600986
Mood Disorders	Associate	32845723, 34284099
Native American myopathy	Associate	29436156
Neoplasm Metastasis	Associate	21860550, 22183189
Neoplasms	Associate	11501173, 16611538, 21325141, 23149465, 23958736, 25490892, 28730340, 29479969, 29600986, 34412629, 34423496, 36037111, 37698371, 40026294
Neurocognitive Disorders	Associate	20727252
Neurodegenerative Diseases	Associate	18698000
Neuroleptic Malignant Syndrome	Associate	16048458, 20305604, 24253372
Neurotoxicity Syndromes	Associate	20345925
Non alcoholic Fatty Liver Disease	Inhibit	19651758
Ocular Hypertension	Associate	36768422
Oligospermia	Associate	25743120
Ovarian Neoplasms	Associate	35501919
Pain	Associate	17517247, 29535047, 34423496, 37698371
Parkinson Disease	Associate	20345925, 20364044, 36926335, 7903297, 9630632
Pediatric acute onset neuropsychiatric syndrome	Associate	18698000
Pediatric Obesity	Associate	21353244
Peripheral Nervous System Diseases	Associate	28350251
Pituitary Neoplasms	Associate	16611538
Porphyria Acute Intermittent	Associate	30808393
Porphyrias	Associate	17225875
Precancerous Conditions	Associate	9439147
Primary Ovarian Insufficiency	Associate	29600986
Prostatic Neoplasms	Associate	9823980
Psychotic Disorders	Associate	18698000, 35197553, 36339274
Renal Insufficiency Chronic	Associate	26800425, 38308569
Reproductive Tract Infections	Associate	29600986
Schizophrenia	Associate	16048458, 18698000, 25329115, 26462458
Scleroderma Systemic	Associate	22661184
Serositis	Associate	36940959
Spondylitis Ankylosing	Associate	8572738
Squamous Cell Carcinoma of Head and Neck	Associate	22531512
Stomach Neoplasms	Associate	31773688
Substance Related Disorders	Associate	20727252
Telomeric 22q13 Monosomy Syndrome	Associate	35328081
Thiopurine S methyltranferase deficiency	Associate	24088226
Urinary Tract Infections	Associate	21353244
Uterine Cervical Neoplasms	Associate	36037111
Weight Gain	Associate	25329115, 30212929