CYP2A6 (cytochrome P450 family 2 subfamily A member 6)

Gene

• Entrez ID: 1548
• Gene name: Cytochrome P450 family 2 subfamily A member 6
• Gene symbol: CYP2A6
• Synonyms (NCBI Gene): CPA6, CYP2A, CYP2A3, CYPIIA6, P450C2A, P450PB
• Chromosome: 19
• Chromosome location: 19q13.2
• Summary: This gene, CYP2A6, 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 prot

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1801272	A>T	Drug-response	Coding sequence variant, missense variant
rs28399447	A>G	Drug-response	Coding sequence variant, missense variant

Transcription factors

Transcription factor	Regulation	Reference
NFYA	Activation	15247629

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005506	Function	Iron ion binding	IEA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005881	Component	Cytoplasmic microtubule	IDA	23264731
GO:0006082	Process	Organic acid metabolic process	IBA	21873635
GO:0006805	Process	Xenobiotic metabolic process	IBA	21873635
GO:0008202	Process	Steroid metabolic process	IMP	18356043
GO:0008389	Function	Coumarin 7-hydroxylase activity	IDA	16086027, 19029318, 19651758
GO:0008392	Function	Arachidonic acid epoxygenase activity	IBA	21873635
GO:0008395	Function	Steroid hydroxylase activity	IBA	21873635
GO:0009804	Process	Coumarin metabolic process	IBA	21873635
GO:0009804	Process	Coumarin metabolic process	IDA	19651758
GO:0009804	Process	Coumarin metabolic process	TAS
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	19651758
GO:0017144	Process	Drug metabolic process	IMP	18356043
GO:0019373	Process	Epoxygenase P450 pathway	IBA	21873635
GO:0019899	Function	Enzyme binding	IPI	15680923
GO:0020037	Function	Heme binding	IBA	21873635
GO:0020037	Function	Heme binding	IDA	16086027
GO:0042738	Process	Exogenous drug catabolic process	IBA	21873635
GO:0042738	Process	Exogenous drug catabolic process	IDA	15680923
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0046226	Process	Coumarin catabolic process	IDA	19029318

Other IDs

• MIM: 122720
• HGNC: 2610
• e!Ensembl: ENSG00000255974

Protein

• UniProt ID: P11509
• Protein name: Cytochrome P450 2A6 (EC 1.14.14.-) (1,4-cineole 2-exo-monooxygenase) (CYPIIA6) (Coumarin 7-hydroxylase) (Cytochrome P450 IIA3) (Cytochrome P450(I))
• Protein function: Exhibits a high coumarin 7-hydroxylase activity. Can act in the hydroxylation of the anti-cancer drugs cyclophosphamide and ifosphamide. Competent in the metabolic activation of aflatoxin B1. Constitutes the major nicotine C-oxidase. Acts as a 1
• PDB: 1Z10, 1Z11, 2FDU, 2FDV, 2FDW, 2FDY, 3EBS, 3T3Q, 3T3R, 4EJJ, 4RUI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00067	p450	34 → 491	Cytochrome P450	Domain

• Tissue specificity: TISSUE SPECIFICITY: Liver. {ECO:0000269|PubMed:1889415, ECO:0000269|PubMed:1944238}.
• Sequence:

  MLASGMLLVALLVCLTVMVLMSVWQQRKSKGKLPPGPTPLPFIGNYLQLNTEQMYNSLMK
  ISERYGPVFTIHLGPRRVVVLCGHDAVREALVDQAEEFSGRGEQATFDWVFKGYGVVFSN
  GERAKQLRRFSIATLRDFGVGKRGIEERIQEEAGFLIDALRGTGGANIDPTFFLSRTVSN
  VISSIVFGDRFDYKDKEFLSLLRMMLGIFQFTSTSTGQLYEMFSSVMKHLPGPQQQAFQL
  LQGLEDFIAKKVEHNQRTLDPNSPRDFIDSFLIRMQEEEKNPNTEFYLKNLVMTTLNLFI
  GGTETVSTTLRYGFLLLMKHPEVEAKVHEEIDRVIGKNRQPKFEDRAKMPYMEAVIHEIQ
  RFGDVIPMSLARRVKKDTKFRDFFLPKGTEVYPMLGSVLRDPSFFSNPQDFNPQHFLNEK
  GQFKKSDAFVPFSIGKRNCFGEGLARMELFLFFTTVMQNFRLKSSQSPKDIDVSPKHVGF
  ATIPRNYTMSFLPR

• Sequence length: 494

Pathways

KEGG:

Caffeine metabolism
Retinol metabolism
Metabolism of xenobiotics by cytochrome P450
Drug metabolism - cytochrome P450
Drug metabolism - other enzymes
Metabolic pathways
Chemical carcinogenesis - DNA adducts
Lipid and atherosclerosis

Reactome:

Xenobiotics
CYP2E1 reactions

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Adenocarcinoma	Adenocarcinoma, Adenocarcinoma, Basal Cell, Adenocarcinoma, Oxyphilic, Adenocarcinoma, Tubular	rs121913530, rs886039394, rs121913474	12115524
Carcinoma	Carcinoma, Cribriform, Carcinoma, Granular Cell	rs121912654, rs555607708, rs786202962, rs1564055259	12115524
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208	17683511
Colorectal neoplasms	Colorectal Neoplasms	rs28929483, rs63751108, rs28929484, rs63749831, rs63750047, rs63751207, rs63749811, rs1553350126, rs63750875, rs63750955, rs587776706, rs63750871, rs587776715, rs63751466, rs63750049, rs63750451, rs121434629, rs63751247, rs63750710, rs63751615, rs63750781, rs63750899, rs63750691, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs63750245, rs193922372, rs63750393, rs63749932, rs193922375, rs193922376, rs193922343, rs397514684, rs397515875, rs267608094, rs587779204, rs267608077, rs587779206, rs63750439, rs63751405, rs63750741, rs63750854, rs63750909, rs587779212, rs587779215, rs587779216, rs587779219, rs63749874, rs267608076, rs587779220, rs267608050, rs63750735, rs63750564, rs71539659, rs267608082, rs63751167, rs267608057, rs587779227, rs267608068, rs63750075, rs587779228, rs63751419, rs587779231, rs587779232, rs267608058, rs63751442, rs63751127, rs63750647, rs63750138, rs587779235, rs267608065, rs63751321, rs587779241, rs587779243, rs63750904, rs63751017, rs587779246, rs267608063, rs63750140, rs63750940, rs63750111, rs587779250, rs63750258, rs63750563, rs267608073, rs63751407, rs267608059, rs63749999, rs267608042, rs63750833, rs587779255, rs587779256, rs63749821, rs63749843, rs63750617, rs267608078, rs587779259, rs267608092, rs587779260, rs267608086, rs1553331676, rs63750356, rs587779263, rs267608098, rs587779264, rs587779267, rs63750194, rs63751327, rs587779269, rs63751328, rs587779274, rs587779279, rs267608111, rs1553332996, rs587779284, rs63749942, rs587779288, rs63751058, rs63750554, rs267608114, rs267608118, rs63750139, rs63751319, rs267608128, rs587779295, rs267608127, rs267608126, rs63750767, rs267608120, rs587779299, rs267608121, rs587779301, rs267608131, rs267608122, rs63749873, rs63751077, rs1800937, rs587779315, rs587779318, rs63750019, rs267608066, rs63749980, rs63750552, rs1553412283, rs146816935, rs587779001, rs63750677, rs63750339, rs63751609, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs587778882, rs587778883, rs63751012, rs63750715, rs63750580, rs587778888, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs587778896, rs63751015, rs267607713, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607837, rs267607836, rs63750028, rs587778930, rs63751277, rs587778933, rs267607843, rs63750192, rs63750300, rs63750193, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs63751608, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750587, rs63749863, rs63749868, rs63750035, rs63750604, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63750152, rs63750850, rs267607867, rs267607869, rs63751632, rs267607871, rs587778956, rs63749792, rs267607875, rs63750610, rs281864938, rs63751465, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs63751662, rs267607884, rs267607883, rs63750639, rs63750206, rs587778967, rs63750663, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs267607717, rs587778973, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs267607888, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63751642, rs63751022, rs587778983, rs587778984, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63749859, rs63750437, rs587778997, rs63749990, rs587778998, rs63750005, rs63750641, rs63751421, rs63750266, rs111052004, rs267607726, rs63750453, rs267607734, rs267607735, rs63751665, rs267607732, rs63749816, rs63750539, rs587779006, rs63751606, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs63750866, rs63750865, rs587779010, rs587779012, rs63750057, rs72481822, rs587779014, rs587779015, rs63751045, rs63749820, rs267607750, rs267607749, rs267607753, rs63750891, rs63749959, rs63749804, rs63750903, rs63750211, rs267607765, rs267607760, rs587779021, rs587779022, rs267607759, rs63750515, rs63750648, rs63751480, rs267607772, rs587779024, rs267607768, rs63751653, rs587779027, rs267607767, rs63750581, rs63750706, rs63750385, rs587779031, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs267607785, rs267607783, rs63750823, rs63750822, rs267607787, rs63750303, rs587779037, rs63750948, rs63749827, rs587779039, rs267607789, rs267607790, rs267607791, rs267607786, rs267607795, rs267607794, rs267607788, rs63750792, rs63749950, rs587779045, rs63750034, rs587779047, rs63750216, rs63750517, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs587779054, rs587779055, rs63751259, rs63749926, rs63750796, rs587779058, rs63751197, rs587779063, rs63750778, rs63751004, rs63751147, rs63751027, rs63750396, rs587779067, rs267607940, rs267607943, rs63751617, rs63750558, rs63750267, rs63749849, rs587779075, rs63750302, rs63750611, rs63750984, rs63750586, rs63751412, rs63751413, rs587779076, rs63751142, rs63750086, rs63750006, rs267607950, rs267607949, rs63751693, rs587779083, rs587779084, rs63750807, rs63749920, rs267607954, rs267607957, rs587779087, rs63750384, rs63750615, rs63750068, rs63749947, rs1114167806, rs63750936, rs267607962, rs587779097, rs63750780, rs63749930, rs63750224, rs63750094, rs63750337, rs63751656, rs267607969, rs267607972, rs63750597, rs267607970, rs267607971, rs587779101, rs587779103, rs63751149, rs63750474, rs587779105, rs63751411, rs587779108, rs267607976, rs63751140, rs587779110, rs267607977, rs63750200, rs63751236, rs267607985, rs63750951, rs587779112, rs63750493, rs267607984, rs63750312, rs63750508, rs63750280, rs63750160, rs63750203, rs63750960, rs63750893, rs63751317, rs587779119, rs267607986, rs267607987, rs587779125, rs267607988, rs267607990, rs63751640, rs63751123, rs587779129, rs587779131, rs267607995, rs63750199, rs587779133, rs63749993, rs63750232, rs63751432, rs267607994, rs63750961, rs63750398, rs587779136, rs267607915, rs267607914, rs267607917, rs587779138, rs63750636, rs63751453, rs587779139, rs63750572, rs267608002, rs267608006, rs267607979, rs267608001, rs63751155, rs63751477, rs63750042, rs63749854, rs587779143, rs63751105, rs63750346, rs63749848, rs63750618, rs63750149, rs63750233, rs63750803, rs63750463, rs63749983, rs63751018, rs63749917, rs267608010, rs267608012, rs63751621, rs63750623, rs63751117, rs63751447, rs587779148, rs63750857, rs587779149, rs63749830, rs63750849, rs63750291, rs63751618, rs267608019, rs267608017, rs63751624, rs267608020, rs587779153, rs63751469, rs267607920, rs63750084, rs63750808, rs63751007, rs63751429, rs63750970, rs63751099, rs63750318, rs587779157, rs63750501, rs63750614, rs587779159, rs63750458, rs267607924, rs267607925, rs63750924, rs63750704, rs63750408, rs63750910, rs63751426, rs63750624, rs63750214, rs63750582, rs587779163, rs63750843, rs63750933, rs63750070, rs587779164, rs63750382, rs63750551, rs63751444, rs63750088, rs587779165, rs63751326, rs63750682, rs63751110, rs63751136, rs587779167, rs63750574, rs63749984, rs63751622, rs63751274, rs267607689, rs587779169, rs267607930, rs267607929, rs63751602, rs587779170, rs63749897, rs63750426, rs281864944, rs63750488, rs63749832, rs63750347, rs267607934, rs587779185, rs63750091, rs63750276, rs63750097, rs587779189, rs587779190, rs587779191, rs63750934, rs63750885, rs63749915, rs63749914, rs63750640, rs587779193, rs587779195, rs12476364, rs587779198, rs63750502, rs63751044, rs63750630, rs63750468, rs63750828, rs267608156, rs587779326, rs587778617, rs587779330, rs267608169, rs63750477, rs63750793, rs63750250, rs63750490, rs63751422, rs201451115, rs587779333, rs267608170, rs267608161, rs267608172, rs63750695, rs587779336, rs267608173, rs267608160, rs1554306445, rs587779338, rs63751029, rs267608148, rs587779343, rs63750261, rs267608147, rs587779344, rs267608149, rs267608151, rs267608154, rs63750246, rs267608153, rs200640585, rs143277125, rs587779347, rs398123231, rs398123232, rs587779778, rs587779254, rs587779914, rs200492211, rs587779936, rs587779941, rs587779950, rs587779964, rs587779979, rs587780059, rs188006077, rs587780062, rs587780064, rs587780538, rs587778618, rs587780683, rs587780724, rs63751427, rs587781317, rs63750119, rs587781339, rs587781372, rs587781395, rs267608064, rs587781462, rs63750737, rs587781544, rs587781554, rs587781626, rs587781691, rs587781716, rs587782074, rs587782111, rs587782277, rs587782326, rs587782336, rs587782561, rs587782593, rs141577476, rs587782659, rs587782704, rs63751604, rs587782710, rs587782712, rs267607712, rs587782787, rs587783056, rs373885654, rs730881775, rs587779166, rs730881774, rs730881816, rs730881825, rs730881827, rs730881829, rs730881830, rs730881734, rs41542214, rs786202037, rs786203424, rs786203604, rs786201066, rs786203036, rs786201590, rs786203704, rs786201042, rs786203597, rs587782281, rs786202848, rs786201049, rs750528093, rs786202363, rs786202108, rs267608083, rs786201050, rs374230313, rs786203924, rs786202842, rs786203331, rs786201084, rs1553333738, rs267607716, rs786202328, rs786203456, rs786201990, rs786201039, rs786201062, rs778531080, rs786203073, rs63751228, rs786201047, rs573125799, rs786203954, rs786202098, rs587779340, rs763308607, rs786204082, rs786204144, rs786204050, rs786204252, rs786204104, rs786204321, rs869320619, rs863224481, rs863224833, rs863224473, rs863224829, rs863224474, rs863224475, rs863224476, rs863224480, rs63750549, rs863224498, rs863224497, rs863224496, rs267608159, rs863224450, rs863224676, rs863225397, rs863225386, rs863225387, rs267607953, rs863225389, rs863225390, rs370970617, rs759263820, rs863225392, rs863225394, rs863225395, rs863225402, rs863225421, rs863225398, rs863225399, rs863225400, rs863225403, rs863225404, rs863225406, rs587782562, rs863225408, rs863225409, rs863225412, rs863225416, rs863225418, rs863225383, rs863225384, rs863225377, rs863225378, rs863225381, rs864622041, rs63750059, rs1553350680, rs864622183, rs63749991, rs864622340, rs63750330, rs864622436, rs864622121, rs864622435, rs864622153, rs864622257, rs864622585, rs864622607, rs786203968, rs267607744, rs267607823, rs267607832, rs864622457, rs864622600, rs3209663, rs869312768, rs869312769, rs869312770, rs869312767, rs759151952, rs876657701, rs876661033, rs876661205, rs876661025, rs876661193, rs63749919, rs876661073, rs876661222, rs876661171, rs876661159, rs63749818, rs876658915, rs876661113, rs876661203, rs766389591, rs760228510, rs763939668, rs876660480, rs876658996, rs876660655, rs876658918, rs876658223, rs876660711, rs876658211, rs876660095, rs876658296, rs876660549, rs876658881, rs876660630, rs876659189, rs876660283, rs876660943, rs866771359, rs876658817, rs876658962, rs876658339, rs876658657, rs876658821, rs876659068, rs63750217, rs876659681, rs876659608, rs876659480, rs876659900, rs876660459, rs876658862, rs587782898, rs876658964, rs876659736, rs878853815, rs878853824, rs878853802, rs878853809, rs267608041, rs878853702, rs878853709, rs878853711, rs878853718, rs878853721, rs878853729, rs878853736, rs878853739, rs878853742, rs878853745, rs878853792, rs878853794, rs878853777, rs878853778, rs878853780, rs878853785, rs878853787, rs878854037, rs878854060, rs878854059, rs763872353, rs879254025, rs879254104, rs879253899, rs879254234, rs1553640314, rs886039424, rs886039646, rs886039615, rs886044911, rs63750058, rs1057517551, rs1057517541, rs756843954, rs1057517764, rs1057517763, rs1057517801, rs769742496, rs1057520605, rs1057520735, rs1057524433, rs786202083, rs1553350787, rs1060502035, rs267607694, rs1060502039, rs1060502014, rs1060502038, rs1060502032, rs1060502001, rs1060502000, rs1060502885, rs1060502941, rs1060502029, rs775464903, rs1064792951, rs1553413673, rs1060502918, rs1060502876, rs1060502888, rs1060502932, rs1060502901, rs1060502891, rs1060502940, rs1060502937, rs1060502926, rs1060502886, rs1060501993, rs1060501989, rs1060502890, rs1060502027, rs1060502023, rs1060501991, rs1060502903, rs1553333432, rs1060502875, rs1060502946, rs1060502882, rs1060502881, rs1060500689, rs764085979, rs1060500707, rs1064792918, rs1060500698, rs1060500699, rs1060500706, rs63750867, rs1060500688, rs1060500703, rs1060500692, rs1060500687, rs1060503142, rs111466480, rs1060503137, rs746766787, rs758304323, rs764342199, rs876659162, rs1554300763, rs730881920, rs1060503148, rs1060503110, rs1060503138, rs1064794155, rs1064794809, rs1553352505, rs267607939, rs876658187, rs1064793561, rs1064795653, rs1064795329, rs267608011, rs1064794075, rs1553411392, rs1023534466, rs1553412609, rs1064794388, rs1064793600, rs1064795256, rs1064795591, rs1064794055, rs1064794164, rs1553414010, rs1064793671, rs1064794943, rs876660853, rs1064793489, rs1064795629, rs1064794384, rs1553333072, rs1553333078, rs1553333127, rs1553333500, rs1064793895, rs760190301, rs1064795341, rs1064793607, rs587778968, rs1064795441, rs1064794612, rs1064795515, rs1064794267, rs1064793823, rs1064794331, rs63750978, rs1064796500, rs1064794566, rs1064793234, rs757324104, rs1064794905, rs1064795447, rs1064796190, rs1064793868, rs1554304940, rs1064794083, rs1064795705, rs1064794173, rs1064794152, rs1085308057, rs1114167435, rs1114167883, rs1114167831, rs1114167877, rs1114167855, rs587782537, rs1114167814, rs1114167848, rs1114167845, rs979212552, rs1114167809, rs1114167858, rs1553356720, rs1114167833, rs1114167852, rs1114167835, rs1114167854, rs1114167815, rs267607982, rs1114167844, rs1114167805, rs730881762, rs1114167857, rs1114167832, rs1114167826, rs1114167841, rs1114167828, rs1114167818, rs1114167719, rs1114167776, rs1114167689, rs1114167728, rs1114167692, rs1114167725, rs1114167704, rs1114167696, rs1114167748, rs1114167763, rs1114167804, rs1114167731, rs1114167801, rs753796271, rs1114167736, rs1114167756, rs267608055, rs1114167746, rs1114167715, rs587782706, rs1114167750, rs1114167702, rs1114167765, rs587780670, rs1114167766, rs777159874, rs587782638, rs1114167747, rs1114167709, rs1114167694, rs786204048, rs1114167771, rs1114167794, rs1114167714, rs765411990, rs587782862, rs1114167773, rs1114167724, rs1114167707, rs1114167782, rs1114167793, rs1114167767, rs766905993, rs1114167723, rs1114167755, rs752404604, rs1114167706, rs1114167717, rs1114167783, rs1114167760, rs1553333599, rs1553333615, rs1553333644, rs1114167790, rs587779297, rs1553351549, rs753075410, rs63751271, rs371776176, rs63750689, rs1553369164, rs202145681, rs1553370310, rs1230083633, rs1553412966, rs1553413710, rs1348956744, rs1553331290, rs1553333421, rs1553333598, rs1416452389, rs1553333707, rs1553641362, rs63751448, rs1553648058, rs587778937, rs1553662753, rs1554292880, rs988423880, rs1553353114, rs63751119, rs1553647995, rs1553663750, rs1458321358, rs730881919, rs1553413178, rs63750443, rs63751596, rs1554309086, rs1553348794, rs1553348882, rs1553348898, rs1553348901, rs1553370371, rs1553365799, rs1553370431, rs1553366510, rs1553408158, rs1553366680, rs1553370404, rs1553411419, rs1553408136, rs1553412397, rs869040863, rs1553348842, rs1553348904, rs1553413599, rs1553413655, rs1553413732, rs1553414022, rs767021188, rs1553350966, rs1553412409, rs796532309, rs587779064, rs1553365711, rs1553333017, rs1553412649, rs1553333175, rs1553333301, rs1553333605, rs1553369100, rs1553369131, rs1553331722, rs1324100572, rs1553332776, rs761037236, rs1553412755, rs1553333438, rs1553333449, rs1553412835, rs1553412735, rs1553413424, rs1553414131, rs1553331337, rs1553332297, rs773262801, rs1553333185, rs1553331454, rs1553332151, rs1553333530, rs1553333633, rs587779285, rs1553333310, rs1553333321, rs1553333497, rs1553646681, rs1553647894, rs1553648195, rs1553653158, rs550890395, rs1064796057, rs1553651130, rs1553662800, rs1553665467, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1553652930, rs1434898623, rs1553665683, rs1554298087, rs1554295967, rs1554297040, rs1554298741, rs1554294393, rs1554297523, rs1554293920, rs1554301486, rs1554304974, rs1553348896, rs1553368675, rs1203462814, rs1553369665, rs1553350721, rs1553369812, rs1553361261, rs1553370443, rs1553408388, rs1553413717, rs63749973, rs1553412064, rs1553408467, rs267608062, rs765873566, rs730881815, rs1553414578, rs1553331665, rs1553331366, rs1553332166, rs1553413663, rs1553332622, rs1553333164, rs63751137, rs1553642777, rs1553648068, rs1553332733, rs1553644123, rs1553648149, rs1302248679, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664702, rs1553647969, rs1437454428, rs1231406078, rs1554293991, rs1554297488, rs1554297534, rs1064794577, rs1554297764, rs1554298082, rs876661256, rs1554298056, rs1554293810, rs939641251, rs1554304979, rs1554297058, rs1554298067, rs1554306288, rs151244108, rs1553412129, rs1054003194, rs1553412824, rs1553413253, rs1553332671, rs1553333168, rs1553333700, rs63751101, rs1553646764, rs1554300689, rs1554297877, rs1437858319, rs1432436629, rs1553648225, rs1553352462, rs1553332772, rs1553648201, rs1553333635, rs1554297125, rs753256070, rs1553414092, rs587779923, rs1554297962, rs1553361162, rs1554294448, rs1553412495, rs1253275403, rs1553350167, rs267607937, rs1553361231, rs730881755, rs1553408306, rs1553365719, rs1553370366, rs1553370397, rs1553412441, rs1553412960, rs1553411391, rs770110491, rs1553350466, rs1553350758, rs1553413116, rs1553413294, rs1553413074, rs1553361289, rs1553413640, rs1553413784, rs1553414488, rs1553331242, rs1553410300, rs1553414498, rs1553332312, rs1553412502, rs1114167705, rs1553331659, rs1553332768, rs1553414102, rs1553414395, rs1553414519, rs1553331228, rs1553333674, rs1553638868, rs1553663981, rs1553644277, rs1553665866, rs1554297082, rs1554297564, rs1394474494, rs1554293959, rs587782175, rs1554297285, rs1554298786, rs1553356605, rs1553356700, rs1553369034, rs1553370435, rs1553413305, rs1553331304, rs1553652883, rs63751435, rs1553653195, rs1553662622, rs1554293975, rs1554297164, rs1554297342, rs1554297636, rs1461669945, rs1553658104, rs1553350250, rs1553410230, rs1554304745, rs1554298756, rs1553648220, rs1559543768, rs745487791, rs1558438591, rs1558508067, rs1558508343, rs1558645195, rs1558658971, rs1558661368, rs1558663954, rs1558390582, rs1558392228, rs1558461615, rs1558466434, rs1558519611, rs1558521949, rs1558644886, rs587782101, rs1558661380, rs1558662873, rs1558392033, rs1558394093, rs1559544064, rs63750584, rs1558459096, rs1060501994, rs63751667, rs878853704, rs1558665297, rs1558387361, rs1558393006, rs1558394104, rs1559524070, rs1559530646, rs1553645226, rs1559551570, rs1559575107, rs1559597322, rs1558451119, rs1558459882, rs1558478567, rs1562605623, rs1562614946, rs781078805, rs1558644683, rs1558658980, rs1558659056, rs1558659699, rs1558667222, rs1558668156, rs1558668258, rs1558393070, rs1558394336, rs1562626204, rs1562629003, rs1562632035, rs587782602, rs1562634737, rs1562635799, rs1562669585, rs1060500702, rs1559539489, rs1559553501, rs1562616355, rs1562644987, rs764171734, rs1562711587, rs1562598658, rs1562604682, rs1562664845, rs1562678257, rs1558666177, rs1562633172, rs1559558071, rs1261282733, rs63750832, rs587778978, rs1064795063, rs1558511051, rs63751097, rs765763906, rs1562626070, rs1562671039, rs1558518588, rs1558461683, rs63751115, rs1558644995, rs1558659265, rs1558660612, rs1559521039, rs1559574795, rs1562626011, rs1562636427, rs1559578422, rs772491283, rs1573424223, rs730881784, rs1573446614, rs1573451108, rs1558464008, rs1573484655, rs1573566217, rs1573566488, rs1573567212, rs63750078, rs1573567340, rs1573567537, rs1573567630, rs1573569948, rs1573570621, rs1573574086, rs1573578423, rs1573578439, rs1573579206, rs1572698011, rs1572708636, rs1473648816, rs1276159036, rs1572716371, rs1572719776, rs1572719974, rs1572720016, rs1572720562, rs1572720704, rs778555956, rs1553412720, rs1572723270, rs1572723640, rs587779221, rs1572725436, rs1572725803, rs1572726309, rs1572726468, rs63750985, rs1572727440, rs1572727797, rs1572729033, rs367758473, rs587779253, rs1572730002, rs1572730065, rs1315445200, rs1572735072, rs1572735943, rs1572738865, rs1572745157, rs754469538, rs1572746365, rs1572747837, rs1575376458, rs1575376830, rs1575395515, rs63750507, rs1575469070, rs1575481212, rs1575537843, rs1575620443, rs1575621386, rs1575621506, rs63750740, rs1386031101, rs1575640892, rs1583285552, rs1583299686, rs1583318494, rs1583320992, rs1243063129, rs757679199, rs1583375182, rs762387250, rs36038802, rs267608035, rs1572716545, rs1572739097, rs1575628928, rs746306598, rs1572747278, rs1572747685, rs1583374709, rs1572708580, rs1572736122, rs1575414321, rs1573437173, rs1573456772, rs1583316404, rs1583363851, rs1572727176, rs1573423412, rs1573440880, rs1573442100, rs369670665, rs1573451078, rs1573547745, rs1573548065, rs1573553636, rs1573567132, rs63750234, rs63751409, rs138465383, rs1573573619, rs1572720192, rs1572720794, rs1572722737, rs1572723723, rs1572725235, rs745483465, rs1572728039, rs1572728112, rs1572728472, rs1572729161, rs1175196087, rs1572736128, rs1572738533, rs1572739043, rs891318615, rs1572741984, rs1572745084, rs1572746382, rs1572746488, rs1060504739, rs1575414904, rs1575448385, rs1575469505, rs1466223609, rs63750198, rs1575639851, rs1575640960, rs1583269216, rs1583285344, rs1583319050, rs1583334346, rs1562651617, rs1583410315, rs767028531, rs1573566175, rs1572739119, rs1572746025, rs1575449402, rs1325835006, rs1672250353, rs1672664863, rs1672951706, rs1673066717, rs1673067879, rs1673070318, rs1666728055, rs1667076589, rs63751433, rs1667245819, rs1667245915, rs1667313093, rs1667395869, rs1667504677, rs1668118988, rs1668692410, rs587779313, rs1669058948, rs1669059418, rs1669245178, rs1669252923, rs1669287624, rs1007311950, rs1669354866, rs1669364351, rs1669365820, rs41295270, rs1669441162, rs1669445829, rs1669451548, rs1669467747, rs1669486855, rs1669487701, rs1669491751, rs1669493890, rs1669760609, rs1669874125, rs1670044220, rs1670120965, rs2080898853, rs2080899985, rs2081922847, rs2083403132, rs2083405700, rs2085310643, rs2085311497, rs2085415927, rs2085469647, rs1782934080, rs1782947222, rs1782958183, rs1782962828, rs1064793426, rs63750456, rs1783004175, rs1783147885, rs1783516106, rs1344095646, rs1784299649, rs1784536095, rs1784802468, rs1784806713, rs1221485925, rs1299958102, rs1669882321, rs2082517369, rs1673083690, rs1667266283, rs1307026290, rs1672953209, rs1667575488	17683511
Epileptic encephalopathy	Encephalopathies	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325	22498344
Esophagus neoplasm	Squamous cell carcinoma of esophagus	rs28934578, rs121918714, rs1567556006, rs1575166666	11241319
Gastric cancer	Hereditary Diffuse Gastric Cancer	rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802, rs28933369, rs121912469, rs80358011, rs397507262, rs80359439, rs397507333, rs80359543, rs80358831, rs80359596, rs80358920, rs80358972, rs80359659, rs397507404, rs397514661, rs80359516, rs200495564, rs80358419, rs80359274, rs80359283, rs80358427, rs80358428, rs80358435, rs81002805, rs397507660, rs397507663, rs80359391, rs80359443, rs81002797, rs80359466, rs397507752, rs80359484, rs80359603, rs397507954, rs80359058, rs80359071, rs397507981, rs80359121, rs80357086, rs80357064, rs397508936, rs80357695, rs80357661, rs397509035, rs80357544, rs80357577, rs80357881, rs80357296, rs80356923, rs80356866, rs80357504, rs80357390, rs80357239, rs80358099, rs397509284, rs80357258, rs199474738, rs199474747, rs587779204, rs63750439, rs267608076, rs587779246, rs63749999, rs267608078, rs63751327, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs267608154, rs200640585, rs80358018, rs80357857, rs80357882, rs180177103, rs587779815, rs587779865, rs587779872, rs587780059, rs121912666, rs587780088, rs587780104, rs200432447, rs180177100, rs587780226, rs587780784, rs587776416, rs587781276, rs587781629, rs587781694, rs587781727, rs587781730, rs587781807, rs587781894, rs587781948, rs121913344, rs587782292, rs587782350, rs587782558, rs587782719, rs587782885, rs587783057, rs730881833, rs730881411, rs730881336, rs139770721, rs730881869, rs730881633, rs730882007, rs786203115, rs765123255, rs1553333738, rs762083530, rs786202800, rs17174393, rs55996097, rs750621215, rs786203451, rs747604569, rs764389018, rs786204433, rs786204862, rs772821016, rs779582317, rs863225406, rs193922343, rs759965045, rs63749919, rs760228510, rs746481984, rs762307622, rs876659736, rs876660933, rs747727055, rs1450394308, rs876658348, rs876658431, rs876659326, rs876660444, rs730881369, rs878853865, rs753862052, rs587780024, rs138941496, rs886040739, rs886040744, rs886040347, rs878854957, rs886040123, rs398122662, rs886040942, rs1057517104, rs1057516320, rs1057516683, rs879254046, rs1057517253, rs587781927, rs985033810, rs1057519989, rs775464903, rs374230313, rs758304323, rs1060501599, rs758081262, rs1060500126, rs1060502734, rs587776408, rs1060501695, rs1114167816, rs1114167596, rs1114167667, rs1555460315, rs1135402788, rs1554086196, rs730881919, rs773356478, rs769237459, rs1553653158, rs587782087, rs1555107263, rs1555119940, rs1403784434, rs1342519012, rs751710099, rs1553616361, rs1553619721, rs1270783041, rs775036118, rs1555288557, rs1555460548, rs1555461154, rs1298667185, rs1553622218, rs63751101, rs1349928568, rs771936821, rs1021662947, rs1555921011, rs81002831, rs1555124506, rs1555574803, rs1060502716, rs1555605362, rs747057367, rs1565385010, rs1567554500, rs1567516230, rs1558644995, rs1555591308, rs778306619, rs1566231194, rs1603328466, rs1570406302, rs1586108714, rs768362387, rs1597713777, rs1060502926, rs1597867185, rs1591517571, rs1591663236, rs1593903006, rs1555284779, rs1597096243, rs45459799, rs1597360340, rs587781905, rs864622481, rs1601753141, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs2080473458, rs1591387978, rs1224428422, rs1597747184, rs2082309297, rs2051929740, rs147542208	12115524, 21364592
Lung adenocarcinoma	Bronchioloalveolar Adenocarcinoma, Adenocarcinoma of lung (disorder)	rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382	28604730
Lung carcinoma	Non-Small Cell Lung Carcinoma, Squamous cell carcinoma of lung, Carcinoma of lung	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193	31326317, 28604730
Lung cancer	Malignant neoplasm of lung	rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135	26132489, 16176798, 11241319, 10441482, 17549345, 12214673
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	21716162

Unknown
Disease term	Disease name	Evidence	References	Source
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Stimulate	17683511
Adenocarcinoma	Associate	36289279
Adenocarcinoma of Lung	Associate	36289279
Adrenocortical Carcinoma	Associate	28073588
Arteriosclerosis Obliterans	Associate	23049750
Attention Deficit Disorder with Hyperactivity	Associate	21778150
Breast Neoplasms	Associate	15084249, 21975350, 28971320
Carcinogenesis	Associate	17683511, 29436633, 36289279
Carcinoma Hepatocellular	Associate	26414287, 29436633, 30148168, 32350062, 34255396, 39193514
Cardiovascular Diseases	Associate	29847509
Colonic Neoplasms	Associate	17683511
Colorectal Neoplasms	Associate	17683511
Coronary Artery Disease	Associate	36123879
Coronary Stenosis	Associate	36123879
Crohn Disease	Associate	24651583
Developmental Disabilities	Associate	36123879
Diabetes Mellitus Type 2	Associate	21964962
Diarrhea	Associate	28811232
Esophageal Neoplasms	Inhibit	19339270
Graft vs Host Disease	Associate	36211438
Hearing Loss	Associate	28432340
Hematologic Neoplasms	Associate	32131765
Hepatolenticular Degeneration	Associate	32131765
HIV Infections	Associate	19371316, 19779319, 28886044
Hypertension	Associate	22217675
Insulin Resistance	Associate	21964962
Intracranial Aneurysm	Associate	37689358
Kidney Diseases	Associate	15531436
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	34050721
Lung Diseases	Associate	26662855
Lung Neoplasms	Associate	10544257, 15225612, 21747048, 21791872, 23027621, 23049750, 23528144, 23591849, 24045616, 25416559, 26132489, 26662855, 26818358, 27488534, 28181923, 28182203, 29924316, 32803792, 38097766
Lung Neoplasms	Stimulate	28542511
Mental Disorders	Associate	20719908
Nasopharyngeal Carcinoma	Associate	26163617
Neoplasm Metastasis	Associate	30148168
Neoplasms	Associate	11376561, 21326246, 21791872, 23027621, 23963147, 30148168, 32131765, 38097766, 38256136
Neoplasms	Stimulate	17683511, 28971320
Neoplasms	Inhibit	34255396
Non alcoholic Fatty Liver Disease	Associate	19651758
Obesity Abdominal	Associate	21964962, 22160797
Ovarian Neoplasms	Associate	38097766
Pancreatic Neoplasms	Associate	24651674
Precancerous Conditions	Associate	32131765
Pulmonary Disease Chronic Obstructive	Associate	12832682, 23049750, 24045616, 25006744, 30694715, 32803792, 34404834
Pulmonary Emphysema	Associate	12832682
Rupture	Associate	37689358
Smoke Inhalation Injury	Associate	12832682, 21964962, 22160797, 22217675, 23528144, 28432340, 32803792, 37689358
Spinocerebellar Ataxia Autosomal Recessive 2	Associate	26132489
Squamous Cell Carcinoma of Head and Neck	Associate	35830713
Stomach Neoplasms	Associate	21364592, 28811232, 32131765
Tobacco Use Disorder	Associate	10544257, 21747048, 23027621, 24045616
Transposition of Great Vessels	Associate	33569925
Urinary Bladder Neoplasms	Associate	26725431