PDIA3 (protein disulfide isomerase family A member 3)

Gene

• Entrez ID: 2923
• Gene name: Protein disulfide isomerase family A member 3
• Gene symbol: PDIA3
• Synonyms (NCBI Gene): ER60, ERp57, ERp60, ERp61, GRP57, GRP58, HEL-S-269, HEL-S-93n, HsT17083, P58, PI-PLC
• Chromosome: 15
• Chromosome location: 15q15.3
• Summary: This gene encodes a protein of the endoplasmic reticulum that interacts with lectin chaperones calreticulin and calnexin to modulate folding of newly synthesized glycoproteins. The protein was once thought to be a phospholipase; however, it has been demon

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1555455456	G>A	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023749	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT025802	hsa-miR-7-5p	Sequencing	20371350
MIRT054720	hsa-miR-494-3p	Luciferase reporter assay, Western blot	24823364
MIRT718883	hsa-miR-146a-3p	HITS-CLIP	19536157
MIRT718882	hsa-miR-301a-5p	HITS-CLIP	19536157
MIRT718881	hsa-miR-301b-5p	HITS-CLIP	19536157
MIRT718880	hsa-miR-3921	HITS-CLIP	19536157
MIRT718879	hsa-miR-4653-5p	HITS-CLIP	19536157
MIRT718878	hsa-miR-4502	HITS-CLIP	19536157
MIRT718877	hsa-miR-4534	HITS-CLIP	19536157
MIRT718876	hsa-miR-8082	HITS-CLIP	19536157
MIRT718875	hsa-miR-3134	HITS-CLIP	19536157
MIRT025802	hsa-miR-7-5p	HITS-CLIP	19536157
MIRT342370	hsa-miR-6077	HITS-CLIP	19536157
MIRT342365	hsa-miR-520d-5p	HITS-CLIP	19536157
MIRT342364	hsa-miR-524-5p	HITS-CLIP	19536157
MIRT718874	hsa-miR-4273	HITS-CLIP	19536157
MIRT281136	hsa-miR-148a-3p	Luciferase reporter assay, qRT-PCR, Western blot	26004124
MIRT281136	hsa-miR-148a-3p	Luciferase reporter assay, qRT-PCR, Western blot	26004124
MIRT718883	hsa-miR-146a-3p	HITS-CLIP	19536157
MIRT718882	hsa-miR-301a-5p	HITS-CLIP	19536157
MIRT718881	hsa-miR-301b-5p	HITS-CLIP	19536157
MIRT718880	hsa-miR-3921	HITS-CLIP	19536157
MIRT718879	hsa-miR-4653-5p	HITS-CLIP	19536157
MIRT718878	hsa-miR-4502	HITS-CLIP	19536157
MIRT718877	hsa-miR-4534	HITS-CLIP	19536157
MIRT718876	hsa-miR-8082	HITS-CLIP	19536157
MIRT718875	hsa-miR-3134	HITS-CLIP	19536157
MIRT025802	hsa-miR-7-5p	HITS-CLIP	19536157
MIRT342370	hsa-miR-6077	HITS-CLIP	19536157
MIRT342365	hsa-miR-520d-5p	HITS-CLIP	19536157
MIRT342364	hsa-miR-524-5p	HITS-CLIP	19536157
MIRT718874	hsa-miR-4273	HITS-CLIP	19536157
MIRT1221400	hsa-miR-1208	CLIP-seq
MIRT1221401	hsa-miR-125a-5p	CLIP-seq
MIRT1221402	hsa-miR-125b	CLIP-seq
MIRT1221403	hsa-miR-1285	CLIP-seq
MIRT1221404	hsa-miR-1291	CLIP-seq
MIRT1221405	hsa-miR-1307	CLIP-seq
MIRT1221406	hsa-miR-3183	CLIP-seq
MIRT1221407	hsa-miR-3187-5p	CLIP-seq
MIRT1221408	hsa-miR-3613-3p	CLIP-seq
MIRT1221409	hsa-miR-3615	CLIP-seq
MIRT1221410	hsa-miR-3617	CLIP-seq
MIRT1221411	hsa-miR-3909	CLIP-seq
MIRT1221412	hsa-miR-3936	CLIP-seq
MIRT1221413	hsa-miR-3942-3p	CLIP-seq
MIRT1221414	hsa-miR-4319	CLIP-seq
MIRT1221415	hsa-miR-4324	CLIP-seq
MIRT1221416	hsa-miR-4424	CLIP-seq
MIRT1221417	hsa-miR-4452	CLIP-seq
MIRT1221418	hsa-miR-4638-5p	CLIP-seq
MIRT1221419	hsa-miR-4640-3p	CLIP-seq
MIRT1221420	hsa-miR-4694-5p	CLIP-seq
MIRT1221421	hsa-miR-4703-3p	CLIP-seq
MIRT1221422	hsa-miR-4723-3p	CLIP-seq
MIRT1221423	hsa-miR-4729	CLIP-seq
MIRT1221424	hsa-miR-4778-5p	CLIP-seq
MIRT1221425	hsa-miR-4796-3p	CLIP-seq
MIRT1221426	hsa-miR-520g	CLIP-seq
MIRT1221427	hsa-miR-520h	CLIP-seq
MIRT1221428	hsa-miR-570	CLIP-seq
MIRT1221429	hsa-miR-582-3p	CLIP-seq
MIRT1221430	hsa-miR-584	CLIP-seq
MIRT1221431	hsa-miR-612	CLIP-seq
MIRT1221432	hsa-miR-641	CLIP-seq
MIRT1221433	hsa-miR-668	CLIP-seq
MIRT1221434	hsa-miR-7	CLIP-seq
MIRT2063896	hsa-miR-1207-3p	CLIP-seq
MIRT1221400	hsa-miR-1208	CLIP-seq
MIRT2063897	hsa-miR-31	CLIP-seq
MIRT2063898	hsa-miR-3688-5p	CLIP-seq
MIRT2063899	hsa-miR-4446-5p	CLIP-seq
MIRT2063900	hsa-miR-4520a-5p	CLIP-seq
MIRT2063901	hsa-miR-4520b-5p	CLIP-seq
MIRT1221423	hsa-miR-4729	CLIP-seq
MIRT1221433	hsa-miR-668	CLIP-seq
MIRT1221400	hsa-miR-1208	CLIP-seq
MIRT1221401	hsa-miR-125a-5p	CLIP-seq
MIRT1221402	hsa-miR-125b	CLIP-seq
MIRT1221404	hsa-miR-1291	CLIP-seq
MIRT1221405	hsa-miR-1307	CLIP-seq
MIRT2292396	hsa-miR-3115	CLIP-seq
MIRT1221406	hsa-miR-3183	CLIP-seq
MIRT1221409	hsa-miR-3615	CLIP-seq
MIRT1221411	hsa-miR-3909	CLIP-seq
MIRT1221413	hsa-miR-3942-3p	CLIP-seq
MIRT1221414	hsa-miR-4319	CLIP-seq
MIRT1221415	hsa-miR-4324	CLIP-seq
MIRT2063900	hsa-miR-4520a-5p	CLIP-seq
MIRT2063901	hsa-miR-4520b-5p	CLIP-seq
MIRT1221418	hsa-miR-4638-5p	CLIP-seq
MIRT1221422	hsa-miR-4723-3p	CLIP-seq
MIRT1221423	hsa-miR-4729	CLIP-seq
MIRT1221424	hsa-miR-4778-5p	CLIP-seq
MIRT1221425	hsa-miR-4796-3p	CLIP-seq
MIRT1221433	hsa-miR-668	CLIP-seq
MIRT2392315	hsa-miR-1255a	CLIP-seq
MIRT2392316	hsa-miR-1255b	CLIP-seq
MIRT2063900	hsa-miR-4520a-5p	CLIP-seq
MIRT2063901	hsa-miR-4520b-5p	CLIP-seq
MIRT2392317	hsa-miR-4738-3p	CLIP-seq
MIRT2392318	hsa-miR-890	CLIP-seq
MIRT2590475	hsa-miR-1283	CLIP-seq
MIRT1221403	hsa-miR-1285	CLIP-seq
MIRT1221407	hsa-miR-3187-5p	CLIP-seq
MIRT2590476	hsa-miR-3647-3p	CLIP-seq
MIRT2590477	hsa-miR-4428	CLIP-seq
MIRT1221417	hsa-miR-4452	CLIP-seq
MIRT2590478	hsa-miR-4694-3p	CLIP-seq
MIRT2590479	hsa-miR-522	CLIP-seq
MIRT1221428	hsa-miR-570	CLIP-seq
MIRT2590480	hsa-miR-577	CLIP-seq
MIRT1221429	hsa-miR-582-3p	CLIP-seq
MIRT1221431	hsa-miR-612	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002474	Process	Antigen processing and presentation of peptide antigen via MHC class I	TAS
GO:0002479	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003756	Function	Protein disulfide isomerase activity	IBA	21873635
GO:0004197	Function	Cysteine-type endopeptidase activity	TAS	9399589
GO:0004629	Function	Phospholipase C activity	TAS
GO:0005515	Function	Protein binding	IPI	15896298, 16905107, 17055437, 17170699, 17947644, 20802462, 21057456, 21670307, 21941299, 22665516, 23826168, 26496610, 30833792, 32814053
GO:0005615	Component	Extracellular space	IDA	19995400
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005783	Component	Endoplasmic reticulum	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	IDA	23826168
GO:0005783	Component	Endoplasmic reticulum	TAS	16130169
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006457	Process	Protein folding	IBA	21873635
GO:0006457	Process	Protein folding	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0009986	Component	Cell surface	IBA	21873635
GO:0009986	Component	Cell surface	IDA	19995400
GO:0015036	Function	Disulfide oxidoreductase activity	TAS	22013210
GO:0015037	Function	Peptide disulfide oxidoreductase activity	IDA	16677074
GO:0018215	Process	Protein phosphopantetheinylation	IEA
GO:0034975	Process	Protein folding in endoplasmic reticulum	TAS	22013210
GO:0034976	Process	Response to endoplasmic reticulum stress	IBA	21873635
GO:0042470	Component	Melanosome	IEA
GO:0042802	Function	Identical protein binding	IPI	16905107
GO:0042824	Component	MHC class I peptide loading complex	IDA	17947644, 21263072
GO:0045335	Component	Phagocytic vesicle	TAS
GO:0055038	Component	Recycling endosome membrane	TAS
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0098761	Process	Cellular response to interleukin-7	IEA
GO:2001238	Process	Positive regulation of extrinsic apoptotic signaling pathway	IEA

Other IDs

• MIM: 602046
• HGNC: 4606
• e!Ensembl: ENSG00000167004

Protein

• UniProt ID: P30101
• Protein name: Protein disulfide-isomerase A3 (EC 5.3.4.1) (58 kDa glucose-regulated protein) (58 kDa microsomal protein) (p58) (Disulfide isomerase ER-60) (Endoplasmic reticulum resident protein 57) (ER protein 57) (ERp57) (Endoplasmic reticulum resident protein 60) (E
• Protein function: Protein disulfide isomerase that catalyzes the formation, isomerization, and reduction or oxidation of disulfide bonds in client proteins and functions as a protein folding chaperone (PubMed:11825568, PubMed:16193070, PubMed:27897272, PubMed:361
• PDB: 2ALB, 2DMM, 2H8L, 3F8U, 6ENY, 7QNG, 7QPD
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00085	Thioredoxin	26 → 130	Thioredoxin	Domain
  PF13848	Thioredoxin_6	160 → 355		Domain
  PF00085	Thioredoxin	377 → 482	Thioredoxin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in the flagellum and head region of spermatozoa (at protein level) (PubMed:20400973). Expressed in liver, stomach and colon (at protein level). Expressed in gastric parietal cells and chief cells (at protein level) (PubMed:241
• Sequence:

  MRLRRLALFPGVALLLAAARLAAASDVLELTDDNFESRISDTGSAGLMLVEFFAPWCGHC
  KRLAPEYEAAATRLKGIVPLAKVDCTANTNTCNKYGVSGYPTLKIFRDGEEAGAYDGPRT
  ADGIVSHLKKQAGPASVPLRTEEEFKKFISDKDASIVGFFDDSFSEAHSEFLKAASNLRD
  NYRFAHTNVESLVNEYDDNGEGIILFRPSHLTNKFEDKTVAYTEQKMTSGKIKKFIQENI
  FGICPHMTEDNKDLIQGKDLLIAYYDVDYEKNAKGSNYWRNRVMMVAKKFLDAGHKLNFA
  VASRKTFSHELSDFGLESTAGEIPVVAIRTAKGEKFVMQEEFSRDGKALERFLQDYFDGN
  LKRYLKSEPIPESNDGPVKVVVAENFDEIVNNENKDVLIEFYAPWCGHCKNLEPKYKELG
  EKLSKDPNIVIAKMDATANDVPSPYEVRGFPTIYFSPANKKLNPKKYEGGRELSDFISYL
  QREATNPPVIQEEKPKKKKKAQEDL

• Sequence length: 505

Pathways

KEGG:

Protein processing in endoplasmic reticulum
Antigen processing and presentation
Human cytomegalovirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection

Reactome:

ER-Phagosome pathway
Calnexin/calreticulin cycle
Antigen Presentation: Folding, assembly and peptide loading of class I MHC

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Mental retardation	Mental Retardation	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	17566973
Spinocerebellar ataxia	SPINOCEREBELLAR ATAXIA 17	rs80356538, rs80356539, rs56144125, rs28937887, rs80356544, rs80356540, rs80356542, rs1941485201, rs121918306, rs151344520, rs151344519, rs151344521, rs151344523, rs151344512, rs193922926, rs104894393, rs587776685, rs121908216, rs121908215, rs121908217, rs121909326, rs121918511, rs121918512, rs121918513, rs121918514, rs121918515, rs121918516, rs121918517, rs121918518, rs1555808841, rs104894699, rs104894700, rs121912425, rs121913123, rs267606939, rs201486601, rs387906679, rs151344514, rs151344515, rs151344517, rs387907033, rs387907089, rs794726680, rs761213683, rs794726681, rs1555779353, rs151344513, rs151344518, rs151344522, rs397514535, rs397514536, rs318240735, rs386134171, rs386134158, rs386134159, rs386134160, rs386134161, rs386134162, rs386134163, rs386134164, rs386134165, rs386134166, rs386134168, rs386134170, rs386134169, rs146859515, rs373728971, rs397515475, rs397515476, rs587777052, rs121908247, rs121908200, rs398122959, rs587777127, rs587777128, rs587777235, rs587777340, rs587777341, rs587777342, rs587777344, rs587777345, rs587777346, rs587777347, rs587780326, rs587777670, rs587777671, rs606231451, rs606231452, rs540331226, rs144272231, rs690016544, rs727502823, rs372250159, rs793888526, rs876657385, rs869320748, rs876657386, rs786205229, rs876657387, rs774694340, rs786205867, rs794727411, rs797044955, rs797044872, rs797045634, rs797045240, rs765592794, rs797045900, rs748445058, rs863223919, rs765987297, rs863224882, rs753611141, rs869025292, rs869025293, rs755221106, rs869312685, rs751181600, rs886037832, rs875989881, rs372245668, rs879255601, rs876657414, rs752281590, rs879253883, rs1114167316, rs879255651, rs879255653, rs879255654, rs886039392, rs540839115, rs886039762, rs201128942, rs886041279, rs531656357, rs1057519453, rs1057519454, rs573267388, rs1057519561, rs200277996, rs1064795856, rs749320057, rs750331613, rs1131692265, rs761564262, rs1555768154, rs1210764379, rs758937084, rs1555475283, rs1555475375, rs760424025, rs1555806333, rs1554308513, rs1554274719, rs1554317158, rs201920319, rs1553724533, rs1554985851, rs768831597, rs1554986345, rs1555755878, rs1554902760, rs368143665, rs1555370787, rs1322796318, rs1553756062, rs772345347, rs149905705, rs1555475794, rs760752847, rs1555781806, rs1555738369, rs1554986337, rs1184563885, rs1553758021, rs1559718601, rs1206950481, rs1568523843, rs748984540, rs1557539450, rs1557541619, rs771145682, rs1564808324, rs1567283195, rs752352896, rs1557794465, rs547792505, rs193922929, rs1571636501, rs1571636508, rs1571939827, rs1571939905, rs1559603328, rs1562374476, rs1599651549, rs1590020571, rs1598832526, rs1575415900, rs779142717, rs781016340, rs1366090807, rs1579319300, rs1311909367, rs1589625941, rs749656742, rs1317590341, rs1599943097, rs1590955348, rs749679347, rs1590911156, rs1395191127, rs1405576707, rs541484241, rs1598820860, rs1598832568, rs1589611043, rs758809498, rs754446573	24413982

Unknown
Disease term	Disease name	Evidence	References	Source
Coronary syndrome	Acute Coronary Syndrome		21751358	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Abortion Spontaneous	Associate	34996009
Adenocarcinoma	Associate	23782473, 25081282, 35445138
Adenocarcinoma of Lung	Stimulate	35724731
Alzheimer Disease	Associate	29725981
Amyotrophic Lateral Sclerosis	Associate	25913742
Aortic Valve Stenosis	Inhibit	31856737
Asthenozoospermia	Inhibit	25293813
Atherosclerosis	Associate	34983301
Atypical Squamous Cells of the Cervix	Associate	23782473
Azoospermia	Stimulate	39237030
Breast Neoplasms	Associate	22393307, 34732604, 36374169
Carcinogenesis	Associate	25081282, 25556465, 28373975, 33761087
Carcinoma Hepatocellular	Associate	21598303
Carcinoma Hepatocellular	Stimulate	28373975
Carcinoma Squamous Cell	Associate	23024775, 37549780
Cholangiocarcinoma	Stimulate	23118872
Colorectal Neoplasms	Associate	26513173
Congenital thrombotic disease due to Protein C deficiency	Associate	25031753
Death	Associate	28373975, 36429083
Dysplastic Nevus Syndrome	Stimulate	22470562
Endodermal Sinus Tumor	Stimulate	21793190
Esophageal Squamous Cell Carcinoma	Associate	20686364, 25556465, 31886273
Fatty Liver	Associate	26214517
Gallbladder Neoplasms	Associate	23782473
Gaucher Disease	Associate	36889696
Glioblastoma	Associate	33153019
Glioma	Stimulate	29207176
Glioma	Associate	32687065, 33153019, 35401558, 36325335
Haspeslagh Fryns Muelenaere syndrome	Associate	25221425
Hemoglobin SC Disease	Associate	23782473
Hepatitis B	Associate	28373975
Hepatitis B Chronic	Associate	28373975
Hypoxia	Associate	33785835
Infertility Male	Associate	39237030
Inflammation	Associate	32687065
Inflammation	Inhibit	33153019, 34983301
Laryngeal Neoplasms	Associate	25605256
Leukemia Myeloid Acute	Associate	27415599
Lymphatic Metastasis	Stimulate	23782473
Lymphatic Metastasis	Associate	31886273
Lymphatic Metastasis	Inhibit	34732604
Melanoma	Associate	30200275
Mucopolysaccharidosis I	Associate	39769211
Multiple Myeloma	Associate	24344029
Neoplasm Metastasis	Associate	36046686
Neoplasms	Associate	21598303, 22470562, 23782473, 25556465, 26513173, 29207176, 31697806, 32687065, 33153019, 33785835, 34929376, 35401558, 35724731, 37549780
Neoplasms	Stimulate	36046686
Neurodegenerative Diseases	Associate	39769211
Non alcoholic Fatty Liver Disease	Stimulate	26214517
Obesity	Associate	18567819, 21266224, 25293813
Ovarian Neoplasms	Associate	16036111, 24961659
Ovarian Neoplasms	Stimulate	39972314
Pancreatic Neoplasms	Associate	25031753
Parkinson Disease	Associate	34726906
Polycystic Ovary Syndrome	Associate	39702372
Prostatic Neoplasms	Associate	19820934, 20035634, 26771192, 33761087
Prostatitis	Associate	38460707
Pterygium	Associate	25221425
Rectal Neoplasms	Associate	31696471
Skin Neoplasms	Associate	37549780
Squamous Cell Carcinoma of Head and Neck	Associate	26745629
Stomach Neoplasms	Associate	12923326, 16718772, 33620602
Tarlov Cysts	Associate	25031753
Thyroid Cancer Papillary	Associate	34732604
Thyroid Carcinoma Anaplastic	Associate	37990304
Thyroiditis Autoimmune	Associate	34996009, 39702372
Uterine Cervical Dysplasia	Associate	23024775
Uterine Cervical Neoplasms	Associate	23024775
Vascular Diseases	Associate	34983301