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: 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

• 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 name	Disease term	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 name	Disease term	dbSNP ID	References
Benign neoplasm	Benign Neoplasm		17353921
Coronary syndrome	Acute Coronary Syndrome	rs4986893	21751358
Liver carcinoma	Liver carcinoma		21472284
Malignant neoplasm	Malignant Neoplasms		17353921
Neoplasms	Neoplasms		17353921
Prostatic neoplasms	Prostatic Neoplasms		17566973