PRKRA (protein activator of interferon induced protein kinase EIF2AK2)

Gene

• Entrez ID: 8575
• Gene name: Protein activator of interferon induced protein kinase EIF2AK2
• Gene symbol: PRKRA
• Synonyms (NCBI Gene): DYT16, HSD14, PACT, RAX
• Disease Acronyms (UniProt): DYT16
• Chromosome: 2
• Chromosome location: 2q31.2
• Summary: This gene encodes a protein kinase activated by double-stranded RNA which mediates the effects of interferon in response to viral infection. Mutations in this gene have been associated with dystonia. Alternative splicing results in multiple transcript var

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs730880307	AT>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006123	hsa-miR-122-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21937511
MIRT006123	hsa-miR-122-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21937511
MIRT006128	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	21935352
MIRT006128	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	21935352
MIRT006123	hsa-miR-122-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21937511
MIRT006123	hsa-miR-122-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21937511
MIRT006128	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	21935352
MIRT006128	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	21935352
MIRT006123	hsa-miR-122-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21937511
MIRT006123	hsa-miR-122-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21937511
MIRT006128	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	21935352
MIRT006128	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	21935352
MIRT1263682	hsa-miR-3065-5p	CLIP-seq
MIRT1263683	hsa-miR-495	CLIP-seq
MIRT2077602	hsa-miR-340	CLIP-seq
MIRT2077603	hsa-miR-561	CLIP-seq
MIRT2601131	hsa-miR-1179	CLIP-seq
MIRT2601132	hsa-miR-122	CLIP-seq
MIRT2601133	hsa-miR-127-5p	CLIP-seq
MIRT2601134	hsa-miR-1276	CLIP-seq
MIRT1263682	hsa-miR-3065-5p	CLIP-seq
MIRT2601135	hsa-miR-3134	CLIP-seq
MIRT2601136	hsa-miR-3150b-3p	CLIP-seq
MIRT2601137	hsa-miR-3617	CLIP-seq
MIRT2601138	hsa-miR-3659	CLIP-seq
MIRT2601139	hsa-miR-4534	CLIP-seq
MIRT2601140	hsa-miR-4689	CLIP-seq
MIRT2601141	hsa-miR-4709-3p	CLIP-seq
MIRT2601142	hsa-miR-4784	CLIP-seq
MIRT2601143	hsa-miR-4786-3p	CLIP-seq
MIRT1263683	hsa-miR-495	CLIP-seq
MIRT2601144	hsa-miR-516b	CLIP-seq
MIRT2601145	hsa-miR-520d-5p	CLIP-seq
MIRT2601146	hsa-miR-524-5p	CLIP-seq
MIRT2601147	hsa-miR-548n	CLIP-seq
MIRT2601148	hsa-miR-548t	CLIP-seq
MIRT2077603	hsa-miR-561	CLIP-seq
MIRT2601149	hsa-miR-621	CLIP-seq
MIRT2601150	hsa-miR-641	CLIP-seq
MIRT2601131	hsa-miR-1179	CLIP-seq
MIRT2601132	hsa-miR-122	CLIP-seq
MIRT2601133	hsa-miR-127-5p	CLIP-seq
MIRT2601134	hsa-miR-1276	CLIP-seq
MIRT1263682	hsa-miR-3065-5p	CLIP-seq
MIRT2601135	hsa-miR-3134	CLIP-seq
MIRT2601136	hsa-miR-3150b-3p	CLIP-seq
MIRT2601137	hsa-miR-3617	CLIP-seq
MIRT2601138	hsa-miR-3659	CLIP-seq
MIRT2601139	hsa-miR-4534	CLIP-seq
MIRT2601140	hsa-miR-4689	CLIP-seq
MIRT2601141	hsa-miR-4709-3p	CLIP-seq
MIRT2601142	hsa-miR-4784	CLIP-seq
MIRT2601143	hsa-miR-4786-3p	CLIP-seq
MIRT1263683	hsa-miR-495	CLIP-seq
MIRT2601144	hsa-miR-516b	CLIP-seq
MIRT2601145	hsa-miR-520d-5p	CLIP-seq
MIRT2601146	hsa-miR-524-5p	CLIP-seq
MIRT2601149	hsa-miR-621	CLIP-seq
MIRT2601150	hsa-miR-641	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003725	Function	Double-stranded RNA binding	IDA	23661684
GO:0005515	Function	Protein binding	IPI	16424907, 17452327, 18096616, 20064372, 21516116, 21858095, 21900206, 21903422, 21994455, 22810585, 23455922, 23661684, 23853584, 23870315, 25416956, 25910212, 28591694, 31515488, 32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	17452327
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006468	Process	Protein phosphorylation	IEA
GO:0006955	Process	Immune response	TAS	9687506
GO:0008047	Function	Enzyme activator activity	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	TAS	9687506
GO:0009615	Process	Response to virus	TAS	9687506
GO:0010586	Process	MiRNA metabolic process	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016032	Process	Viral process	IEA
GO:0019899	Function	Enzyme binding	IPI	23661684
GO:0030422	Process	Production of siRNA involved in RNA interference	IDA	17452327
GO:0030422	Process	Production of siRNA involved in RNA interference	TAS
GO:0031054	Process	Pre-miRNA processing	IDA	16424907, 23661684
GO:0034599	Process	Cellular response to oxidative stress	IEA
GO:0035196	Process	Production of miRNAs involved in gene silencing by miRNA	IDA	23661684
GO:0042473	Process	Outer ear morphogenesis	IEA
GO:0042474	Process	Middle ear morphogenesis	IEA
GO:0042802	Function	Identical protein binding	IPI	16169070, 21900206, 25416956, 32296183
GO:0042803	Function	Protein homodimerization activity	IPI	17452327
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048705	Process	Skeletal system morphogenesis	IEA
GO:0050790	Process	Regulation of catalytic activity	IEA
GO:0050821	Process	Protein stabilization	IMP	16424907
GO:0070578	Component	RISC-loading complex	IDA	23661684
GO:0070883	Function	Pre-miRNA binding	IDA	23661684
GO:2001244	Process	Positive regulation of intrinsic apoptotic signaling pathway	IEA

Other IDs

• MIM: 603424
• HGNC: 9438
• e!Ensembl: ENSG00000180228

Protein

• UniProt ID: O75569
• Protein name: Interferon-inducible double-stranded RNA-dependent protein kinase activator A (PKR-associated protein X) (PKR-associating protein X) (Protein activator of the interferon-induced protein kinase) (Protein kinase, interferon-inducible double-stranded RNA-dep
• Protein function: Activates EIF2AK2/PKR in the absence of double-stranded RNA (dsRNA), leading to phosphorylation of EIF2S1/EFI2-alpha and inhibition of translation and induction of apoptosis. Required for siRNA production by DICER1 and for subsequent siRNA-media
• PDB: 2DIX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00035	dsrm	35 → 99	Double-stranded RNA binding motif	Domain
  PF00035	dsrm	127 → 192	Double-stranded RNA binding motif	Domain
  PF16482	Staufen_C	218 → 310	Staufen C-terminal domain	Domain

• Sequence:

  MSQSRHRAEAPPLEREDSGTFSLGKMITAKPGKTPIQVLHEYGMKTKNIPVYECERSDVQ
  IHVPTFTFRVTVGDITCTGEGTSKKLAKHRAAEAAINILKANASICFAVPDPLMPDPSKQ
  PKNQLNPIGSLQELAIHHGWRLPEYTLSQEGGPAHKREYTTICRLESFMETGKGASKKQA
  KRNAAEKFLAKFSNISPENHISLTNVVGHSLGCTWHSLRNSPGEKINLLKRSLLSIPNTD
  YIQLLSEIAKEQGFNITYLDIDELSANGQYQCLAELSTSPITVCHGSGISCGNAQSDAAH
  NALQYLKIIAERK

• Sequence length: 313

Pathways

Reactome:

MicroRNA (miRNA) biogenesis
Small interfering RNA (siRNA) biogenesis

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Dermatitis	Dermatitis, Atopic	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	25574825
Dystonia	Dystonia Disorders, Idiopathic familial dystonia, Adult-Onset Dystonias, Adult-Onset Idiopathic Focal Dystonias, Adult-Onset Idiopathic Torsion Dystonias, Autosomal Dominant Familial Dystonia, Autosomal Recessive Familial Dystonia, Childhood Onset Dystonias, Dystonia, Primary, Dystonia, Secondary, Dystonias, Sporadic, Familial Dystonia, DYSTONIA 16 (disorder), Dystonia 16	rs1586456293, rs1586456350, rs1586456278, rs267607112, rs137852968, rs80358233, rs121434410, rs730880307, rs104894433, rs104894437, rs2140127822, rs104894438, rs2140074226, rs104894439, rs104894440, rs2140073990, rs104894441, rs104894444, rs80356532, rs80356533, rs80356535, rs80356536, rs80356537, rs267606670, rs104893665, rs121917747, rs121909739, rs80359818, rs387907176, rs387907177, rs387907281, rs387907282, rs398122887, rs387907312, rs587776922, rs1565132917, rs587776923, rs1277790116, rs398122924, rs398122925, rs398122926, rs398122927, rs398122928, rs587776983, rs397515577, rs587777428, rs587777771, rs397515382, rs606231443, rs606231442, rs606231441, rs549006436, rs606231439, rs606231437, rs606231435, rs606231434, rs557052809, rs606231432, rs542652468, rs786205675, rs775863165, rs767517186, rs139260335, rs796053263, rs796053254, rs767399782, rs864309572, rs869320661, rs779204655, rs879253875, rs886039379, rs1555865401, rs587777468, rs886041396, rs1057518117, rs782175860, rs1057518953, rs113371321, rs1057518942, rs1057519278, rs1057519279, rs1057519280, rs1057519281, rs1057519282, rs1057519283, rs1057519284, rs988395114, rs1060500993, rs1064795234, rs1064797245, rs1064797344, rs1131691345, rs1131691307, rs749414480, rs1555358507, rs1555727493, rs1555362835, rs1555859571, rs763183959, rs1555859157, rs1555731819, rs879255368, rs1555731976, rs1554599616, rs1554599983, rs1554599712, rs1555360050, rs760768475, rs1566687487, rs1568379151, rs1563644456, rs1563646198, rs1563644810, rs1568853466, rs1573882268, rs1252185897, rs1586456404, rs1590612392, rs1590658782, rs1599706613, rs1599715341, rs1599719130, rs1590168246, rs1590169710, rs1599689373, rs1599712456, rs1599712523, rs1599719534, rs1586457084, rs1478393931, rs748888652, rs1599679995, rs1599680351, rs1459799356, rs1599687853, rs1599706511, rs1599725621, rs1586459408, rs1596050386, rs1599676503, rs1566687244, rs1586457060, rs1599665134, rs1599668553, rs1670619549, rs1802674870, rs1802756440, rs2075090666, rs1969024891, rs1802672249, rs2039866854	18243799, 26990861, 25142429, 18420150, 25914261, 26231208
Mental retardation	Profound Mental Retardation, Mental deficiency, Intellectual Disability	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	21937992
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	23472185
Parkinson disease	Parkinsonian Disorders, Autosomal Dominant Juvenile Parkinson Disease, PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121918104, rs1589451049, rs104893877, rs104893878, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106	18243799
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	25574825

Associations from Text Mining
Disease Name	Relationship Type	References
Asthma	Associate	35597955
Carcinoma Hepatocellular	Associate	35035655
Colorectal Neoplasms	Associate	27107574, 27859935
Dermatitis Atopic	Associate	25574825
Dystonia	Associate	22842711, 25150291, 26231208, 33049316, 33236446, 35625640
Inflammation	Associate	29170442
Lupus Erythematosus Systemic	Stimulate	20538795
Multiple Sclerosis	Associate	36755464
Myotonic Dystrophy	Associate	34520479
Neoplasms	Associate	27107574, 33406242
Neurodegenerative Diseases	Associate	29170442
Parkinsonian Disorders	Stimulate	22842711
Parkinsonism Dystonia Infantile	Associate	22842711
Psoriasis	Associate	25574825
Triple Negative Breast Neoplasms	Associate	36077333