EPHX2 (epoxide hydrolase 2)

Gene

• Entrez ID: 2053
• Gene name: Epoxide hydrolase 2
• Gene symbol: EPHX2
• Synonyms (NCBI Gene): ABHD20, CEH, SEH
• Chromosome: 8
• Chromosome location: 8p21.2-p21.1
• Summary: This gene encodes a member of the epoxide hydrolase family. The protein, found in both the cytosol and peroxisomes, binds to specific epoxides and converts them to the corresponding dihydrodiols. Mutations in this gene have been associated with familial h

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs751141	G>A	Risk-factor	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT690137	hsa-miR-5683	HITS-CLIP	23313552
MIRT690136	hsa-miR-4700-3p	HITS-CLIP	23313552
MIRT690135	hsa-miR-1197	HITS-CLIP	23313552
MIRT690134	hsa-miR-4778-5p	HITS-CLIP	23313552
MIRT690133	hsa-miR-4436a	HITS-CLIP	23313552
MIRT690132	hsa-miR-5000-3p	HITS-CLIP	23313552
MIRT690131	hsa-miR-600	HITS-CLIP	23313552
MIRT690130	hsa-miR-3117-5p	HITS-CLIP	23313552
MIRT690129	hsa-miR-2116-5p	HITS-CLIP	23313552
MIRT690128	hsa-miR-6888-3p	HITS-CLIP	23313552
MIRT690127	hsa-miR-4743-3p	HITS-CLIP	23313552
MIRT661586	hsa-miR-29a-3p	HITS-CLIP	23824327
MIRT661585	hsa-miR-29b-3p	HITS-CLIP	23824327
MIRT661584	hsa-miR-29c-3p	HITS-CLIP	23824327
MIRT661583	hsa-miR-6871-3p	HITS-CLIP	23824327
MIRT661582	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT661581	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT661580	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT661579	hsa-miR-1470	HITS-CLIP	23824327
MIRT661578	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT661577	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT661576	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT661575	hsa-miR-4469	HITS-CLIP	23824327
MIRT661574	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT661573	hsa-miR-4287	HITS-CLIP	23824327
MIRT661572	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT661571	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT661570	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT661569	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT661568	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT661567	hsa-miR-26b-3p	HITS-CLIP	23824327
MIRT661566	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT661565	hsa-miR-5682	HITS-CLIP	23824327
MIRT661564	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT661563	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT661562	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT661561	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT661560	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT661559	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT661558	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT690137	hsa-miR-5683	HITS-CLIP	23313552
MIRT690136	hsa-miR-4700-3p	HITS-CLIP	23313552
MIRT690135	hsa-miR-1197	HITS-CLIP	23313552
MIRT690134	hsa-miR-4778-5p	HITS-CLIP	23313552
MIRT690133	hsa-miR-4436a	HITS-CLIP	23313552
MIRT690132	hsa-miR-5000-3p	HITS-CLIP	23313552
MIRT690131	hsa-miR-600	HITS-CLIP	23313552
MIRT690130	hsa-miR-3117-5p	HITS-CLIP	23313552
MIRT690129	hsa-miR-2116-5p	HITS-CLIP	23313552
MIRT690128	hsa-miR-6888-3p	HITS-CLIP	23313552
MIRT690127	hsa-miR-4743-3p	HITS-CLIP	23313552
MIRT661586	hsa-miR-29a-3p	HITS-CLIP	23824327
MIRT661585	hsa-miR-29b-3p	HITS-CLIP	23824327
MIRT661584	hsa-miR-29c-3p	HITS-CLIP	23824327
MIRT661583	hsa-miR-6871-3p	HITS-CLIP	23824327
MIRT661582	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT661581	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT661580	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT661579	hsa-miR-1470	HITS-CLIP	23824327
MIRT661578	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT661577	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT661576	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT661575	hsa-miR-4469	HITS-CLIP	23824327
MIRT661574	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT661573	hsa-miR-4287	HITS-CLIP	23824327
MIRT661572	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT661571	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT661570	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT661569	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT661568	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT661567	hsa-miR-26b-3p	HITS-CLIP	23824327
MIRT661566	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT661565	hsa-miR-5682	HITS-CLIP	23824327
MIRT661564	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT661563	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT661562	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT661561	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT661560	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT661559	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT661558	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT966821	hsa-miR-103a	CLIP-seq
MIRT966822	hsa-miR-107	CLIP-seq
MIRT966823	hsa-miR-15a	CLIP-seq
MIRT966824	hsa-miR-15b	CLIP-seq
MIRT966825	hsa-miR-16	CLIP-seq
MIRT966826	hsa-miR-195	CLIP-seq
MIRT966827	hsa-miR-424	CLIP-seq
MIRT966828	hsa-miR-4530	CLIP-seq
MIRT966829	hsa-miR-497	CLIP-seq
MIRT2220939	hsa-miR-3192	CLIP-seq
MIRT2220940	hsa-miR-326	CLIP-seq
MIRT2220941	hsa-miR-330-5p	CLIP-seq
MIRT2220942	hsa-miR-4314	CLIP-seq
MIRT2220943	hsa-miR-4646-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	IBA	21873635
GO:0000287	Function	Magnesium ion binding	IDA	12574510
GO:0004301	Function	Epoxide hydrolase activity	IDA	8342951, 10862610, 21217101, 22798687
GO:0005777	Component	Peroxisome	IBA	21873635
GO:0005777	Component	Peroxisome	IDA	16314446, 18513744
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005829	Component	Cytosol	IDA	8342951, 16314446, 18513744
GO:0005829	Component	Cytosol	TAS
GO:0006625	Process	Protein targeting to peroxisome	TAS
GO:0009636	Process	Response to toxic substance	IEA
GO:0010628	Process	Positive regulation of gene expression	IDA	18974052
GO:0015643	Function	Toxic substance binding	IDA	15096040
GO:0016311	Process	Dephosphorylation	IDA	12574508, 22217705
GO:0016787	Function	Hydrolase activity	IBA	21873635
GO:0016791	Function	Phosphatase activity	IDA	12574508, 15196990
GO:0019373	Process	Epoxygenase P450 pathway	TAS
GO:0033885	Function	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity	IEA
GO:0042577	Function	Lipid phosphatase activity	IBA	21873635
GO:0042577	Function	Lipid phosphatase activity	IDA	12574510
GO:0042632	Process	Cholesterol homeostasis	IBA	21873635
GO:0042632	Process	Cholesterol homeostasis	IDA	18974052
GO:0042759	Process	Long-chain fatty acid biosynthetic process	TAS
GO:0042803	Function	Protein homodimerization activity	IDA	15096040, 18513744
GO:0046272	Process	Stilbene catabolic process	IDA	8342951
GO:0046839	Process	Phospholipid dephosphorylation	IBA	21873635
GO:0046839	Process	Phospholipid dephosphorylation	IDA	12574510
GO:0052642	Function	Lysophosphatidic acid phosphatase activity	IDA	22217705, 22387545
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0090181	Process	Regulation of cholesterol metabolic process	IMP	18974052
GO:0097176	Process	Epoxide metabolic process	IDA	21217101, 22798687

Other IDs

• MIM: 132811
• HGNC: 3402
• e!Ensembl: ENSG00000120915

Protein

• UniProt ID: P34913
• Protein name: Bifunctional epoxide hydrolase 2 [Includes: Cytosolic epoxide hydrolase 2 (CEH) (EC 3.3.2.10) (Epoxide hydratase) (Soluble epoxide hydrolase) (SEH); Lipid-phosphate phosphatase (EC 3.1.3.76)]
• Protein function: Bifunctional enzyme (PubMed:12574510). The C-terminal domain has epoxide hydrolase activity and acts on epoxides (alkene oxides, oxiranes) and arene oxides (PubMed:12574510, PubMed:12869654, PubMed:22798687). Plays a role in xenobiotic metabolis
• PDB: 1S8O, 1VJ5, 1ZD2, 1ZD3, 1ZD4, 1ZD5, 3ANS, 3ANT, 3I1Y, 3I28, 3KOO, 3OTQ, 3PDC, 3WK4, 3WK5, 3WK6, 3WK7, 3WK8, 3WK9, 3WKA, 3WKB, 3WKC, 3WKD, 3WKE, 4C4X, 4C4Y, 4C4Z, 4HAI, 4J03, 4JNC, 4OCZ, 4OD0, 4X6X, 4X6Y, 4Y2J, 4Y2P, 4Y2Q, 4Y2R, 4Y2S, 4Y2T, 4Y2U, 4Y2V, 4Y2X, 4Y2Y, 5AHX, 5AI0, 5AI4, 5AI5, 5AI6, 5AI8, 5AI9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00702	Hydrolase	3 → 197		Domain
  PF00561	Abhydrolase_1	259 → 531	alpha/beta hydrolase fold	Domain

• Sequence:

  MTLRAAVFDLDGVLALPAVFGVLGRTEEALALPRGLLNDAFQKGGPEGATTRLMKGEITL
  SQWIPLMEENCRKCSETAKVCLPKNFSIKEIFDKAISARKINRPMLQAALMLRKKGFTTA
  ILTNTWLDDRAERDGLAQLMCELKMHFDFLIESCQVGMVKPEPQIYKFLLDTLKASPSEV
  VFLDDIGANLKPARDLGMVTILVQDTDTALKELEKVTGIQLLNTPAPLPTSCNPSDMSHG
  YVTVKPRVRLHFVELGSGPAVCLCHGFPESWYSWRYQIPALAQAGYRVLAMDMKGYGESS
  APPEIEEYCMEVLCKEMVTFLDKLGLSQAVFIGHDWGGMLVWYMALFYPERVRAVASLNT
  PFIPANPNMSPLESIKANPVFDYQLYFQEPGVAEAELEQNLSRTFKSLFRASDESVLSMH
  KVCEAGGLFVNSPEEPSLSRMVTEEEIQFYVQQFKKSGFRGPLNWYRNMERNWKWACKSL
  GRKILIPALMVTAEKDFVLVPQMSQHMEDWIPHLKRGHIEDCGHWTQMDKPTEVNQILIK
  WLDSDARNPPVVSKM

• Sequence length: 555

Pathways

KEGG:

Arachidonic acid metabolism
Metabolic pathways
Peroxisome
Chemical carcinogenesis - receptor activation
Chemical carcinogenesis - reactive oxygen species

Reactome:

Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)
Biosynthesis of maresins
Peroxisomal protein import

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Alzheimer disease	Alzheimer`s Disease	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	29777097
Autism spectrum disorder	Autism Spectrum Disorders	rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728, rs762292772, rs864321694, rs869312878, rs758432471, rs750896617, rs886039692, rs886039770, rs201037487, rs200483989, rs1057518198, rs1057517708, rs780267761, rs1555910143, rs1057519632, rs775225727, rs751037529, rs1064794848, rs1064795655, rs1131691548, rs1135401811, rs1553248081, rs1454466097, rs1554480537, rs1553578503, rs1553518509, rs774152851, rs1554481395, rs1554464807, rs1554401434, rs1561824498, rs1396313317, rs1564801388, rs1564801473, rs1564950387, rs1565527302, rs1569513495, rs1569305431, rs143944436, rs1563183492, rs1561846159, rs1565819425, rs1562957809, rs1585645641, rs1585016242, rs1595127294, rs1585667374, rs1585653028, rs1585653240, rs1592919048, rs1585645384, rs1789927813	30890645
Hypercholesterolemia	Hypercholesterolemia	rs28942111, rs28942112, rs137852912, rs121908025, rs28942082, rs28942083, rs121908028, rs121908030, rs28942079, rs28942084, rs121908032, rs387906302, rs387906303, rs121908033, rs121908034, rs387906304, rs387906305, rs121908036, rs387906306, rs121908037, rs200238879, rs121908040, rs267607213, rs121908041, rs121908042, rs145787161, rs121908043, rs121908044, rs121908324, rs1557703339, rs121908325, rs1553170279, rs755104973, rs1461905374, rs781585299, rs121918386, rs587776886, rs193922566, rs137943601, rs193922567, rs193922569, rs193922571, rs144467873, rs137853966, rs137853965, rs377271627, rs144172724, rs139043155, rs368657165, rs146200173, rs368562025, rs139624145, rs370777955, rs373646964, rs137929307, rs374045590, rs139617694, rs730880131, rs730880130, rs730882080, rs200727689, rs557344672, rs730882085, rs730882086, rs730882090, rs544453230, rs730882098, rs570942190, rs193922568, rs730882102, rs730882109, rs201102492, rs730882110, rs793888522, rs793888517, rs146651743, rs794728683, rs794728585, rs376459828, rs768563000, rs794728584, rs375009082, rs869025453, rs869025454, rs758194385, rs769446356, rs869320649, rs869320652, rs875989888, rs551747280, rs544203837, rs875989889, rs875989890, rs875989891, rs875989893, rs875989894, rs771019366, rs563390335, rs875989895, rs875989896, rs875989897, rs875989898, rs769383881, rs875989900, rs537484504, rs875989901, rs199774121, rs875989902, rs875989903, rs121908027, rs875989905, rs875989906, rs577934998, rs121908029, rs875989907, rs875989908, rs875989909, rs11547917, rs875989911, rs875989910, rs875989912, rs761954844, rs875989914, rs767767730, rs875989915, rs875989916, rs875989917, rs765696008, rs552422789, rs28942078, rs875989919, rs875989920, rs875989921, rs875989922, rs875989925, rs875989926, rs875989927, rs875989928, rs875989929, rs875989930, rs875989932, rs370245937, rs875989934, rs875989935, rs875989936, rs875989937, rs775092314, rs875989938, rs875989941, rs875989943, rs750518671, rs28942085, rs876657697, rs756039188, rs878854026, rs878854028, rs878854027, rs879254363, rs879254368, rs879254374, rs879254382, rs879254383, rs879254384, rs201016593, rs879254386, rs879254385, rs879254387, rs879254388, rs879254390, rs879254393, rs879254394, rs879254395, rs879254396, rs879254397, rs879254398, rs879254399, rs879254400, rs2228671, rs879254401, rs776421777, rs879254402, rs879254403, rs879254404, rs879254405, rs879254406, rs879254407, rs879254408, rs879254409, rs879254410, rs879254411, rs879254412, rs879254413, rs879254414, rs879254415, rs754676104, rs387906301, rs879254417, rs879254418, rs879254419, rs879254423, rs879254422, rs879254424, rs879254425, rs879254426, rs879254428, rs879254430, rs879254432, rs879254433, rs879254434, rs1555802710, rs879254435, rs879254436, rs879254437, rs879254438, rs879254439, rs758927662, rs879254440, rs879254442, rs879254443, rs879254445, rs879254447, rs879254446, rs879254448, rs879254452, rs199570811, rs879254453, rs879254455, rs777640882, rs749038326, rs372828849, rs745776977, rs879254456, rs879254457, rs139400379, rs372845091, rs879254458, rs879254459, rs879254460, rs879254461, rs764797225, rs879254464, rs879254463, rs879254465, rs112029328, rs879254466, rs879254467, rs879254470, rs879254471, rs879254472, rs879254475, rs879254476, rs879254477, rs879254478, rs879254479, rs879254480, rs879254481, rs774723292, rs879254482, rs879254485, rs879254483, rs879254484, rs879254487, rs879254488, rs879254489, rs879254490, rs879254491, rs879254492, rs879254493, rs879254494, rs879254496, rs879254497, rs879254499, rs875989899, rs879254500, rs879254501, rs879254502, rs879254503, rs879254505, rs879254504, rs879254506, rs879254507, rs879254509, rs879254510, rs879254512, rs879254514, rs879254515, rs879254516, rs755799528, rs879254517, rs879254518, rs748944640, rs879254519, rs879254520, rs879254521, rs879254522, rs879254523, rs879254524, rs879254525, rs879254526, rs879254528, rs879254530, rs879254531, rs879254532, rs879254533, rs879254534, rs879254535, rs879254536, rs766094434, rs879254537, rs879254538, rs763998635, rs879254540, rs879254542, rs879254543, rs879254545, rs879254546, rs879254547, rs879254548, rs752596535, rs879254549, rs879254550, rs879254551, rs879254552, rs879254554, rs879254555, rs879254557, rs879254556, rs879254558, rs879254560, rs879254559, rs769318035, rs879254561, rs879254562, rs879254563, rs879254565, rs879254564, rs879254566, rs879254567, rs879254568, rs879254569, rs879254570, rs879254572, rs879254571, rs879254573, rs879254574, rs879254575, rs879254577, rs879254579, rs879254580, rs879254581, rs879254582, rs879254584, rs748672083, rs879254588, rs879254591, rs879254592, rs879254593, rs879254594, rs879254595, rs879254596, rs879254597, rs879254598, rs879254599, rs879254600, rs771917370, rs879254602, rs879254605, rs879254606, rs764042910, rs879254607, rs879254608, rs879254610, rs879254609, rs879254611, rs879254612, rs879254613, rs879254614, rs879254615, rs879254616, rs879254358, rs1555803428, rs879254619, rs373822756, rs879254620, rs879254622, rs756613387, rs879254623, rs879254624, rs1555803424, rs879254627, rs879254625, rs879254626, rs879254628, rs879254629, rs879254630, rs1555803414, rs879254631, rs1555803423, rs1555803426, rs879254632, rs879254633, rs879254635, rs879254634, rs879254636, rs879254638, rs1555803427, rs879254639, rs879254640, rs879254641, rs879254642, rs746091400, rs879254644, rs121908035, rs879254645, rs879254646, rs879254647, rs879254651, rs879254652, rs1555803643, rs1555803644, rs879254653, rs879254655, rs879254656, rs879254658, rs879254659, rs879254660, rs879254662, rs879254663, rs879254664, rs879254666, rs759109699, rs879254667, rs879254668, rs879254669, rs879254670, rs879254671, rs879254672, rs879254673, rs879254674, rs879254675, rs879254677, rs879254678, rs879254681, rs879254682, rs879254683, rs773328511, rs879254684, rs879254685, rs879254686, rs879254688, rs879254689, rs879254691, rs879254692, rs730882089, rs879254693, rs140241383, rs375495026, rs879254697, rs879254696, rs879254699, rs879254700, rs879254701, rs879254702, rs879254703, rs879254704, rs879254705, rs879254706, rs879254708, rs879254710, rs879254712, rs767618089, rs879254713, rs879254714, rs879254716, rs879254717, rs757252110, rs879254718, rs879254719, rs879254720, rs879254721, rs879254723, rs879254725, rs879254727, rs879254728, rs13306512, rs879254729, rs879254734, rs112366278, rs879254735, rs879254736, rs746834464, rs879254737, rs879254738, rs879254739, rs879254740, rs879254743, rs879254744, rs879254745, rs879254746, rs879254747, rs879254748, rs879254749, rs767024374, rs879254751, rs879254752, rs879254753, rs879254754, rs879254755, rs879254757, rs755757866, rs879254758, rs777524402, rs730882096, rs879254760, rs879254761, rs879254762, rs879254763, rs879254764, rs748300548, rs879254765, rs879254767, rs879254768, rs879254769, rs13306515, rs879254770, rs879254771, rs879254773, rs879254774, rs755449669, rs879254775, rs879254777, rs879254778, rs879254781, rs879254780, rs879254782, rs879254783, rs879254784, rs879254786, rs879254788, rs879254789, rs746982741, rs879254791, rs768430352, rs113669610, rs879254792, rs879254794, rs879254796, rs879254797, rs879254799, rs1555804777, rs879254800, rs773064328, rs879254801, rs879254802, rs1555804793, rs879254804, rs879254805, rs879254807, rs879254806, rs879254811, rs879254812, rs879254814, rs879254813, rs879254815, rs879254816, rs879254817, rs879254820, rs879254819, rs879254821, rs879254823, rs879254824, rs879254826, rs879254827, rs879254828, rs879254829, rs879254830, rs879254832, rs879254833, rs879254835, rs879254837, rs879254838, rs879254839, rs879254840, rs879254841, rs879254842, rs879254844, rs879254846, rs773658037, rs869320651, rs774439908, rs879254848, rs879254849, rs879254850, rs879254851, rs879254854, rs879254855, rs879254856, rs745343524, rs879254857, rs879254858, rs779732323, rs879254859, rs879254862, rs879254863, rs879254864, rs879254865, rs879254866, rs879254867, rs879254868, rs879254869, rs879254872, rs879254873, rs879254874, rs775924858, rs879254875, rs531005522, rs879254879, rs879254880, rs879254881, rs879254882, rs879254883, rs879254884, rs879254885, rs879254886, rs879254887, rs879254888, rs879254892, rs879254893, rs201967266, rs879254896, rs879254898, rs879254899, rs879254901, rs879254902, rs879254904, rs879254907, rs879254906, rs879254913, rs879254915, rs879254916, rs879254918, rs879254919, rs751603969, rs879254921, rs879254922, rs879254923, rs755667663, rs879254924, rs730882103, rs879254927, rs879254929, rs879254930, rs879254931, rs879254932, rs879254933, rs879254935, rs879254939, rs879254941, rs755389753, rs879254945, rs879254947, rs879254948, rs879254949, rs879254950, rs879254951, rs746939188, rs879254952, rs879254955, rs879254956, rs879254957, rs879254958, rs879254959, rs769370816, rs879254962, rs879254963, rs879254964, rs879254965, rs759876319, rs879254966, rs28942081, rs879254967, rs879254970, rs879254969, rs879254971, rs28941776, rs879254973, rs879254972, rs879254975, rs879254976, rs879254977, rs879254978, rs879254979, rs879254980, rs879254981, rs879254982, rs879254985, rs879254984, rs879254986, rs879254988, rs879254989, rs746959386, rs879254990, rs879254991, rs879254994, rs879254996, rs879254998, rs879254999, rs879255000, rs138947766, rs879255001, rs879255003, rs879255004, rs879255005, rs879255006, rs879255007, rs879255009, rs879255008, rs879255011, rs879255012, rs879255013, rs879255014, rs879255015, rs879255016, rs875989931, rs879255019, rs879255020, rs879255021, rs879255022, rs879255026, rs753707206, rs879255027, rs879255028, rs879255029, rs879255031, rs879255032, rs879255033, rs879255034, rs879255035, rs879255038, rs879255037, rs879255039, rs879255041, rs879255044, rs879255046, rs879255049, rs879255050, rs879255051, rs879255052, rs747134711, rs879255053, rs879255054, rs879255055, rs875989933, rs879255057, rs879255058, rs879255059, rs879255060, rs879255061, rs879255063, rs879255065, rs879255066, rs879255069, rs879255068, rs879255070, rs754536745, rs879255073, rs879255076, rs879255077, rs879255078, rs879255079, rs879255082, rs1555807275, rs879255088, rs879255089, rs879255090, rs879255092, rs773693079, rs879255093, rs879255096, rs879255097, rs879255098, rs1555807306, rs879255101, rs879255102, rs879255104, rs752935814, rs879255106, rs150021927, rs879255107, rs879255109, rs879255108, rs879255110, rs879255112, rs770744861, rs745753810, rs879255113, rs879255114, rs879255115, rs879255116, rs879255117, rs760436036, rs879255118, rs201637900, rs121908031, rs879255120, rs879255121, rs2569548, rs879255122, rs879255123, rs879255124, rs879255126, rs879255125, rs879255127, rs751228587, rs879255128, rs879255130, rs369943481, rs879255131, rs879255132, rs879255133, rs879255134, rs112954220, rs776217028, rs879255135, rs879255136, rs879255138, rs879255139, rs879255140, rs879255141, rs879255142, rs879255144, rs879255145, rs879255146, rs879255147, rs879255153, rs879255155, rs879255156, rs879255157, rs879255158, rs879255159, rs879255160, rs879255161, rs879255163, rs879255164, rs370018159, rs879255166, rs879255167, rs879255168, rs879255169, rs879255172, rs879255174, rs763625913, rs879255175, rs879255176, rs879255177, rs879255178, rs879255181, rs879255185, rs879255186, rs879255188, rs879255187, rs767790696, rs879255193, rs879255194, rs879255196, rs879255197, rs879255198, rs879255200, rs879255202, rs879255204, rs773618064, rs879255207, rs879255209, rs879255210, rs879255212, rs879255213, rs879255215, rs879255217, rs747344293, rs879255218, rs879255219, rs879255222, rs377437226, rs879255224, rs879255227, rs879255229, rs1555803632, rs886039829, rs886039830, rs886039831, rs1057515537, rs774615547, rs1057516129, rs1057516132, rs1057516133, rs1057516135, rs777326720, rs751122998, rs1057516130, rs774069731, rs879254847, rs1057516134, rs867272973, rs1057516127, rs763147599, rs1057519647, rs1057519648, rs1057519649, rs1057519650, rs751317621, rs774016801, rs1057519652, rs1057519653, rs1057519654, rs1555803257, rs1057519655, rs879254601, rs1057519657, rs1057519662, rs879254618, rs1057519659, rs1057519660, rs1057519661, rs1057519663, rs1057519664, rs1057519665, rs1057519666, rs373869746, rs879254803, rs1057519668, rs1057519669, rs1057519670, rs1057519671, rs1057519672, rs1057519673, rs1057519674, rs879254993, rs1057519676, rs1057519679, rs1057519682, rs1057519683, rs1057519685, rs1057519687, rs1057519690, rs1060499931, rs1060499919, rs1064792905, rs1060499921, rs1060499922, rs1555805127, rs1060499923, rs1060499924, rs1060499926, rs1060499927, rs1555808044, rs1555808111, rs1060499930, rs770696696, rs1060500988, rs1060500987, rs879254637, rs1064794259, rs1555800611, rs1131692189, rs1555802312, rs1131692191, rs1131692192, rs1555803259, rs1131692193, rs1131692194, rs121908039, rs1131692195, rs1131692197, rs1131692198, rs148698650, rs1131692201, rs1131692202, rs879254715, rs370471092, rs1131692203, rs1131692204, rs1131692205, rs1131692206, rs1131692207, rs1131692208, rs1131692209, rs1131692210, rs1131692211, rs1131692214, rs1131692215, rs1131692217, rs1555806546, rs1131692219, rs879255095, rs1131692220, rs1131692221, rs200793488, rs1131692223, rs1131692224, rs1131692225, rs1131692226, rs1135402767, rs1555805507, rs1553137543, rs1382988295, rs1555802270, rs934496989, rs1555806455, rs1555807335, rs1555803481, rs1555804717, rs1372204035, rs1553135930, rs1057519691, rs1254346075, rs1553137693, rs1553137699, rs886046435, rs1553382295, rs1553382319, rs1553382325, rs1442815965, rs747606537, rs5742904, rs1553385404, rs1553385715, rs1555800620, rs1555800631, rs1555800632, rs1555800648, rs1555800724, rs1555802242, rs1555802245, rs1555802258, rs1555802287, rs200660051, rs1398808477, rs1555802822, rs752191968, rs1555803191, rs1555803213, rs879254529, rs754933794, rs1555803327, rs1555803337, rs1555803354, rs1013147010, rs1555803383, rs1555803391, rs753319170, rs1555803409, rs1555803432, rs1555803449, rs1555803641, rs1555803701, rs1555803837, rs1555803841, rs1555803879, rs1555803891, rs1555804443, rs1555804700, rs730882099, rs1225797407, rs879254871, rs1555805337, rs1555805348, rs1555805360, rs1555805380, rs1555805490, rs1555805530, rs1555805531, rs1555805985, rs1555806110, rs1555806448, rs1555806467, rs1555806582, rs778408161, rs1555807261, rs1555807390, rs1555807388, rs1555807421, rs1555807465, rs1555807475, rs1555808008, rs1555808107, rs1555808114, rs1555808118, rs1555808120, rs1555808139, rs875989942, rs1555809471, rs1555809490, rs1555809520, rs1555800701, rs762417023, rs1555802259, rs1555802291, rs1555803186, rs1555803254, rs1555803280, rs879254541, rs1555803455, rs1555803439, rs1555803471, rs1555803912, rs1555804467, rs1555804545, rs1555805947, rs879254992, rs1555807356, rs1555808143, rs1555805930, rs1201229554, rs1555806529, rs779921498, rs1555807206, rs753151497, rs1208216597, rs1555803908, rs1323416354, rs1555805409, rs1555805413, rs774467219, rs1555806088, rs1568600415, rs777903106, rs1568606711, rs1568610747, rs1568600459, rs1568592055, rs1568582652, rs1568591929, rs1568594903, rs1568600328, rs1600743301, rs750383461, rs1600683731, rs1600704961, rs1600715039, rs1600720921, rs1555804729, rs1600727337, rs1600727715, rs1600732894, rs1600726930, rs1600742966, rs1600762098, rs1600765031, rs1600715089, rs879255149, rs1600715567, rs1600732566, rs1257344396, rs1572802096, rs763778803, rs2044384127, rs2077272442, rs2077276411, rs2077276612, rs2077282480, rs2077297994, rs879254707, rs2077361078, rs2077408020, rs2077409930, rs2077412367, rs2077417709, rs2077419273, rs2077459772, rs2077475503, rs2077534881, rs762148512, rs140807148, rs2077460968, rs2077315885, rs2077271255
Hyperlipoproteinemia	Hyperlipoproteinemia Type IIa	rs118204056, rs118204057, rs118204058, rs118204059, rs1563572716, rs118204060, rs118204067, rs118204062, rs118204074, rs118204063, rs118204064, rs1563569634, rs118204065, rs118204066, rs1563575252, rs118204068, rs118204069, rs118204070, rs766134215, rs118204071, rs118204072, rs118204073, rs118204075, rs118204076, rs118204077, rs118204078, rs118204079, rs118204080, rs118204081, rs118204082, rs121917821, rs121918393, rs397514253, rs397514254, rs121918394, rs2122132718, rs121918396, rs121918397, rs387906567, rs587777637, rs587777638, rs587777639, rs587777640, rs587777641, rs587777642, rs587777643, rs886037774, rs201079485, rs1554517725, rs371282890, rs35414700
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	30890645

Unknown
Disease term	Disease name	Evidence	References	Source
Congestive heart failure	Congestive heart failure		18443590	ClinVar
Heart failure	Heart failure, Left-Sided Heart Failure, Heart Failure, Right-Sided		18443590	ClinVar
Myocardial infarction	Myocardial Failure		18443590	ClinVar
Dental caries	Dental caries			GWAS
Lung adenocarcinoma	Lung adenocarcinoma	Validation that loss of Tgfbr2 results in more aggressive and T cell-excluded KP lung tumors		GWAS, CBGDA

Associations from Text Mining
Disease Name	Relationship Type	References
Acute Coronary Syndrome	Associate	23305094
Acute Kidney Injury	Associate	28552948, 36594097
Albuminuria	Associate	34040693
Alcoholism	Associate	35404482
Alzheimer Disease	Associate	37349091
Aneurysm	Associate	25216066
Anorexia Nervosa	Associate	23999524, 25824304, 28232135
Anxiety	Inhibit	36233100
Asthma	Associate	31670489
Atherosclerosis	Associate	11842228, 22525341, 23305094, 23466098, 34040693
Bipolar Disorder	Stimulate	32339103
Brain Damage Chronic	Associate	18319271
Brain Ischemia	Associate	25216066
Breast Neoplasms	Associate	25406731, 27150055, 33020551
Carcinoma Hepatocellular	Associate	31545220, 34278494, 35236335
Carcinoma Renal Cell	Associate	36475868, 38297313
Cardiovascular Diseases	Associate	16595607, 18537101, 24771868, 28460522, 30096423, 34040693
Carotid Stenosis	Associate	18537101, 26686738, 37247449
Cerebral Infarction	Associate	16115816, 18216721, 25216066, 25947240, 27087514, 28409162, 28835580, 37247449
Cerebrovascular Disorders	Associate	23466098
Chorioamnionitis	Associate	31885501, 33976432
Cognition Disorders	Associate	25277097
Colonic Neoplasms	Associate	34564978, 38179743
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	32192153
Coronary Artery Disease	Associate	18537101, 22503544
Coronary Disease	Associate	16595607, 19814804
Death	Associate	25216066
Depressive Disorder	Associate	31801286
Depressive Disorder Major	Stimulate	32339103
Diabetes Gestational	Associate	31801286, 37370090
Diabetes Mellitus	Associate	22503544
Diabetes Mellitus	Stimulate	30885203
Diabetes Mellitus Type 2	Associate	28409162, 29629376, 30885203
Diabetic Nephropathies	Associate	29629376, 34040693, 34545296
Dyslipidemias	Associate	38448299
Embolic Stroke	Associate	37247449
Essential Hypertension	Associate	25966114
Fatty Liver Alcoholic	Associate	31670489
Feeding and Eating Disorders	Associate	36233100
Glomerulonephritis	Associate	21429967
Glomerulonephritis IGA	Associate	21429967, 29717935
Glycosuria Renal	Associate	36475868
Head and Neck Neoplasms	Associate	35404482
Hereditary Breast and Ovarian Cancer Syndrome	Associate	25406731
Hyperlipoproteinemia Type II	Associate	37565868
Hypertension	Associate	11842228, 19814804, 28460522, 34040693, 38448299
Inflammation	Associate	11842228, 23466098, 24771868, 28460522, 29717935, 30885203, 32192153, 36233100, 36475868, 36594097
Inflammation	Inhibit	23305094
Inflammation	Stimulate	34040693
Intervertebral Disc Degeneration	Associate	38007425
Ischemia	Associate	25216066, 27087514, 28552948
Ischemic Stroke	Associate	28835580
Kidney Diseases	Associate	28552948, 36475868, 38448299
Kidney Failure Chronic	Associate	38448299
Liver Diseases	Associate	31670489
Lung Neoplasms	Associate	23370545
Mental Disorders	Associate	32339103
Metabolic Diseases	Associate	31670489
Metabolic Syndrome	Associate	25173047
Myocardial Infarction	Associate	22525341
Myocardial Ischemia	Associate	22525341
Neoplasms	Inhibit	25406731, 32687069, 36089125
Neoplasms	Associate	28460522
Neoplasms Adipose Tissue	Associate	32192153
Nervous System Diseases	Associate	28835580
Neurologic Manifestations	Associate	28835580
Obesity	Stimulate	32192153
Oropharyngeal Neoplasms	Associate	35404482
Pain	Associate	28460522
Prostatic Neoplasms	Associate	21281786, 32687069
Proteinuria	Associate	29717935
Psychological Distress	Associate	31801286
Pulmonary Disease Chronic Obstructive	Associate	26965288
Renal Insufficiency Chronic	Associate	38448299
Schizophrenia	Stimulate	32339103
Shock Septic	Associate	39609718
Squamous Cell Carcinoma of Head and Neck	Associate	29802697
Stroke	Associate	18319271, 25216066, 37247449
Subarachnoid Hemorrhage	Associate	25216066, 25388680
Vascular Diseases	Associate	23466098, 30885203
Vascular System Injuries	Associate	21429967