PITRM1 (pitrilysin metallopeptidase 1)

Gene

• Entrez ID: 10531
• Gene name: Pitrilysin metallopeptidase 1
• Gene symbol: PITRM1
• Synonyms (NCBI Gene): MP1, PreP, SCAR30
• Disease Acronyms (UniProt): SCAR30
• Chromosome: 10
• Chromosome location: 10p15.2
• Summary: The protein encoded by this gene is an ATP-dependent metalloprotease that degrades post-cleavage mitochondrial transit peptides. The encoded protein binds zinc and can also degrade amyloid beta A4 protein, suggesting a possible role in Alzheimer`s disease

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049603	hsa-miR-92a-3p	CLASH	23622248
MIRT041475	hsa-miR-193b-3p	CLASH	23622248
MIRT038903	hsa-miR-93-3p	CLASH	23622248
MIRT037980	hsa-miR-502-3p	CLASH	23622248
MIRT035886	hsa-miR-1303	CLASH	23622248
MIRT439966	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439966	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1236965	hsa-let-7a	CLIP-seq
MIRT1236966	hsa-let-7b	CLIP-seq
MIRT1236967	hsa-let-7c	CLIP-seq
MIRT1236968	hsa-let-7d	CLIP-seq
MIRT1236969	hsa-let-7e	CLIP-seq
MIRT1236970	hsa-let-7f	CLIP-seq
MIRT1236971	hsa-let-7g	CLIP-seq
MIRT1236972	hsa-let-7i	CLIP-seq
MIRT1236973	hsa-miR-1236	CLIP-seq
MIRT1236974	hsa-miR-1343	CLIP-seq
MIRT1236975	hsa-miR-202	CLIP-seq
MIRT1236976	hsa-miR-3609	CLIP-seq
MIRT1236977	hsa-miR-3647-3p	CLIP-seq
MIRT1236978	hsa-miR-4458	CLIP-seq
MIRT1236979	hsa-miR-4500	CLIP-seq
MIRT1236980	hsa-miR-4639-3p	CLIP-seq
MIRT1236981	hsa-miR-4662a-3p	CLIP-seq
MIRT1236982	hsa-miR-4712-5p	CLIP-seq
MIRT1236983	hsa-miR-4722-3p	CLIP-seq
MIRT1236984	hsa-miR-4760-5p	CLIP-seq
MIRT1236985	hsa-miR-4763-5p	CLIP-seq
MIRT1236986	hsa-miR-4777-5p	CLIP-seq
MIRT1236987	hsa-miR-4802-3p	CLIP-seq
MIRT1236988	hsa-miR-518d-5p	CLIP-seq
MIRT1236989	hsa-miR-519b-5p	CLIP-seq
MIRT1236990	hsa-miR-519c-5p	CLIP-seq
MIRT1236991	hsa-miR-520c-5p	CLIP-seq
MIRT1236992	hsa-miR-520d-5p	CLIP-seq
MIRT1236993	hsa-miR-520g	CLIP-seq
MIRT1236994	hsa-miR-520h	CLIP-seq
MIRT1236995	hsa-miR-524-5p	CLIP-seq
MIRT1236996	hsa-miR-526a	CLIP-seq
MIRT1236997	hsa-miR-548ad	CLIP-seq
MIRT1236998	hsa-miR-548ah	CLIP-seq
MIRT1236999	hsa-miR-596	CLIP-seq
MIRT1237000	hsa-miR-668	CLIP-seq
MIRT1237001	hsa-miR-770-5p	CLIP-seq
MIRT1237002	hsa-miR-98	CLIP-seq
MIRT1236965	hsa-let-7a	CLIP-seq
MIRT1236966	hsa-let-7b	CLIP-seq
MIRT1236967	hsa-let-7c	CLIP-seq
MIRT1236968	hsa-let-7d	CLIP-seq
MIRT1236969	hsa-let-7e	CLIP-seq
MIRT1236970	hsa-let-7f	CLIP-seq
MIRT1236971	hsa-let-7g	CLIP-seq
MIRT1236972	hsa-let-7i	CLIP-seq
MIRT1236975	hsa-miR-202	CLIP-seq
MIRT1236978	hsa-miR-4458	CLIP-seq
MIRT1236979	hsa-miR-4500	CLIP-seq
MIRT1236986	hsa-miR-4777-5p	CLIP-seq
MIRT1236988	hsa-miR-518d-5p	CLIP-seq
MIRT1236989	hsa-miR-519b-5p	CLIP-seq
MIRT1236990	hsa-miR-519c-5p	CLIP-seq
MIRT1236991	hsa-miR-520c-5p	CLIP-seq
MIRT1236996	hsa-miR-526a	CLIP-seq
MIRT1236997	hsa-miR-548ad	CLIP-seq
MIRT1237002	hsa-miR-98	CLIP-seq
MIRT1236965	hsa-let-7a	CLIP-seq
MIRT1236966	hsa-let-7b	CLIP-seq
MIRT1236967	hsa-let-7c	CLIP-seq
MIRT1236968	hsa-let-7d	CLIP-seq
MIRT1236969	hsa-let-7e	CLIP-seq
MIRT1236970	hsa-let-7f	CLIP-seq
MIRT1236971	hsa-let-7g	CLIP-seq
MIRT1236972	hsa-let-7i	CLIP-seq
MIRT1236973	hsa-miR-1236	CLIP-seq
MIRT2069703	hsa-miR-1273	CLIP-seq
MIRT2069704	hsa-miR-1279	CLIP-seq
MIRT1236974	hsa-miR-1343	CLIP-seq
MIRT1236975	hsa-miR-202	CLIP-seq
MIRT2069705	hsa-miR-3148	CLIP-seq
MIRT2069706	hsa-miR-3158-3p	CLIP-seq
MIRT1236976	hsa-miR-3609	CLIP-seq
MIRT2069707	hsa-miR-3689d	CLIP-seq
MIRT2069708	hsa-miR-3978	CLIP-seq
MIRT2069709	hsa-miR-432	CLIP-seq
MIRT1236978	hsa-miR-4458	CLIP-seq
MIRT1236979	hsa-miR-4500	CLIP-seq
MIRT1236980	hsa-miR-4639-3p	CLIP-seq
MIRT1236981	hsa-miR-4662a-3p	CLIP-seq
MIRT1236982	hsa-miR-4712-5p	CLIP-seq
MIRT1236983	hsa-miR-4722-3p	CLIP-seq
MIRT1236985	hsa-miR-4763-5p	CLIP-seq
MIRT1236986	hsa-miR-4777-5p	CLIP-seq
MIRT1236988	hsa-miR-518d-5p	CLIP-seq
MIRT1236989	hsa-miR-519b-5p	CLIP-seq
MIRT1236990	hsa-miR-519c-5p	CLIP-seq
MIRT1236991	hsa-miR-520c-5p	CLIP-seq
MIRT1236992	hsa-miR-520d-5p	CLIP-seq
MIRT1236993	hsa-miR-520g	CLIP-seq
MIRT1236994	hsa-miR-520h	CLIP-seq
MIRT1236995	hsa-miR-524-5p	CLIP-seq
MIRT1236996	hsa-miR-526a	CLIP-seq
MIRT1236997	hsa-miR-548ad	CLIP-seq
MIRT1236998	hsa-miR-548ah	CLIP-seq
MIRT1236999	hsa-miR-596	CLIP-seq
MIRT1237000	hsa-miR-668	CLIP-seq
MIRT1237001	hsa-miR-770-5p	CLIP-seq
MIRT1237002	hsa-miR-98	CLIP-seq
MIRT1236965	hsa-let-7a	CLIP-seq
MIRT1236966	hsa-let-7b	CLIP-seq
MIRT1236967	hsa-let-7c	CLIP-seq
MIRT1236968	hsa-let-7d	CLIP-seq
MIRT1236969	hsa-let-7e	CLIP-seq
MIRT1236970	hsa-let-7f	CLIP-seq
MIRT1236971	hsa-let-7g	CLIP-seq
MIRT1236972	hsa-let-7i	CLIP-seq
MIRT1236975	hsa-miR-202	CLIP-seq
MIRT1236978	hsa-miR-4458	CLIP-seq
MIRT1236979	hsa-miR-4500	CLIP-seq
MIRT1236986	hsa-miR-4777-5p	CLIP-seq
MIRT1236988	hsa-miR-518d-5p	CLIP-seq
MIRT1236989	hsa-miR-519b-5p	CLIP-seq
MIRT1236990	hsa-miR-519c-5p	CLIP-seq
MIRT1236991	hsa-miR-520c-5p	CLIP-seq
MIRT1236996	hsa-miR-526a	CLIP-seq
MIRT1236997	hsa-miR-548ad	CLIP-seq
MIRT1236999	hsa-miR-596	CLIP-seq
MIRT1237002	hsa-miR-98	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004222	Function	Metalloendopeptidase activity	IBA	21873635
GO:0004222	Function	Metalloendopeptidase activity	IDA	10360838, 19196155
GO:0004222	Function	Metalloendopeptidase activity	IMP	16849325, 24931469
GO:0005739	Component	Mitochondrion	IDA
GO:0005759	Component	Mitochondrial matrix	IBA	21873635
GO:0005759	Component	Mitochondrial matrix	IDA	16849325, 19196155
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006508	Process	Proteolysis	IDA	10360838, 19196155
GO:0006508	Process	Proteolysis	IMP	16849325, 24931469
GO:0006626	Process	Protein targeting to mitochondrion	TAS
GO:0008047	Function	Enzyme activator activity	TAS	9733512
GO:0008237	Function	Metallopeptidase activity	EXP	19962426, 26697887
GO:0008270	Function	Zinc ion binding	IDA	24931469
GO:0016485	Process	Protein processing	IBA	21873635
GO:0050790	Process	Regulation of catalytic activity	IEA

Other IDs

• MIM: 618211
• HGNC: 17663
• e!Ensembl: ENSG00000107959

Protein

• UniProt ID: Q5JRX3
• Protein name: Presequence protease, mitochondrial (hPreP) (EC 3.4.24.-) (Pitrilysin metalloproteinase 1) (Metalloprotease 1) (hMP1)
• Protein function: Metalloendopeptidase of the mitochondrial matrix that functions in peptide cleavage and degradation rather than in protein processing (PubMed:10360838, PubMed:16849325, PubMed:19196155, PubMed:24931469). Has an ATP-independent activity (PubMed:1
• PDB: 4L3T, 4NGE, 4RPU, 6XOS, 6XOT, 6XOU, 6XOV, 6XOW
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00675	Peptidase_M16	93 → 189	Insulinase (Peptidase family M16)	Family
  PF05193	Peptidase_M16_C	244 → 431	Peptidase M16 inactive domain	Domain
  PF08367	M16C_assoc	504 → 752	Peptidase M16C associated	Family
  PF05193	Peptidase_M16_C	768 → 959	Peptidase M16 inactive domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Expressed at higher level in muscle and heart compared to brain, pancreas, liver, lung and placenta. {ECO:0000269|PubMed:10360838}.
• Sequence:

  MWRCGGRQGLCVLRRLSGGHAHHRAWRWNSNRACERALQYKLGDKIHGFTVNQVTSVPEL
  FLTAVKLTHDDTGARYLHLAREDTNNLFSVQFRTTPMDSTGVPHILEHTVLCGSQKYPCR
  DPFFKMLNRSLSTFMNAFTASDYTLYPFSTQNPKDFQNLLSVYLDATFFPCLRELDFWQE
  GWRLEHENPSDPQTPLVFKGVVFNEMKGAFTDNERIFSQHLQNRLLPDHTYSVVSGGDPL
  CIPELTWEQLKQFHATHYHPSNARFFTYGNFPLEQHLKQIHEEALSKFQKIEPSTVVPAQ
  TPWDKPREFQITCGPDSFATDPSKQTTISVSFLLPDITDTFEAFTLSLLSSLLTSGPNSP
  FYKALIESGLGTDFSPDVGYNGYTREAYFSVGLQGIAEKDIETVRSLIDRTIDEVVEKGF
  EDDRIEALLHKIEIQMKHQSTSFGLMLTSYIASCWNHDGDPVELLKLGNQLAKFRQCLQE
  NPKFLQEKVKQYFKNNQHKLTLSMRPDDKYHEKQAQVEATKLKQKVEALSPGDRQQIYEK
  GLELRSQQSKPQDASCLPALKVSDIEPTIPVTELDVVLTAGDIPVQYCAQPTNGMVYFRA
  FSSLNTLPEELRPYVPLFCSVLTKLGCGLLDYREQAQQIELKTGGMSASPHVLPDDSHMD
  TYEQGVLFSSLCLDRNLPDMMQLWSEIFNNPCFEEEEHFKVLVKMTAQELANGIPDSGHL
  YASIRAGRTLTPAGDLQETFSGMDQVRLMKRIAEMTDIKPILRKLPRIKKHLLNGDNMRC
  SVNATPQQMPQTEKAVEDFLRSIGRSKKERRPVRPHTVEKPVPSSSGGDAHVPHGSQVIR
  KLVMEPTFKPWQMKTHFLMPFPVNYVGECIRTVPYTDPDHASLKILARLMTAKFLHTEIR
  EKGGAYGGGAKLSHNGIFTLYSYRDPNTIETLQSFGKAVDWAKSGKFTQQDIDEAKLSVF
  STVDAPVAPSDKGMDHFLYGLSDEMKQAHREQLFAVSHDKLLAVSDRYLGTGKSTHGLAI
  LGPENPKIAKDPSWIIQ

• Sequence length: 1037

Pathways

Reactome:

Mitochondrial protein import

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Mental retardation	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	29383861

Unknown
Disease term	Disease name	Evidence	References	Source
Myocardial infarction	Myocardial Infarction		21211798	ClinVar
Spinocerebellar Ataxia	spinocerebellar ataxia, autosomal recessive 30			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Cerebellar Diseases	Associate	29764912
Charcot Marie Tooth Disease	Associate	29383861
Drug Related Side Effects and Adverse Reactions	Associate	36190452
Episodic Ataxia	Associate	29764912
Glioma	Associate	32857715
Hypoxia	Inhibit	32857715
Macular Degeneration	Associate	27225020
Mental Retardation Autosomal Dominant 1	Associate	29383861
Nervous System Diseases	Associate	29383861
Scotoma	Associate	21303544
Spinocerebellar Ataxias	Associate	29764912