MSRB3 (methionine sulfoxide reductase B3)

Gene

• Entrez ID: 253827
• Gene name: Methionine sulfoxide reductase B3
• Gene symbol: MSRB3
• Synonyms (NCBI Gene): DFNB74
• Disease Acronyms (UniProt): DFNB74
• Chromosome: 12
• Chromosome location: 12q14.3
• Summary: The protein encoded by this gene catalyzes the reduction of methionine sulfoxide to methionine. This enzyme acts as a monomer and requires zinc as a cofactor. Several transcript variants encoding two different isoforms have been found for this gene. One o

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs144038296	C>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs149258390	C>A,T	Pathogenic	Synonymous variant, intron variant, stop gained, coding sequence variant
rs201306709	G>A	Likely-pathogenic, not-provided	Genic downstream transcript variant, splice acceptor variant
rs387907088	T>G	Pathogenic	Missense variant, coding sequence variant
rs751906778	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022224	hsa-miR-124-3p	Microarray	18668037
MIRT026193	hsa-miR-192-5p	Microarray	19074876
MIRT656117	hsa-miR-6858-3p	HITS-CLIP	23824327
MIRT656116	hsa-miR-4676-5p	HITS-CLIP	23824327
MIRT656115	hsa-miR-575	HITS-CLIP	23824327
MIRT656114	hsa-miR-2392	HITS-CLIP	23824327
MIRT656113	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT656112	hsa-miR-1193	HITS-CLIP	23824327
MIRT656111	hsa-miR-193b-5p	HITS-CLIP	23824327
MIRT656110	hsa-miR-4662a-5p	HITS-CLIP	23824327
MIRT656109	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT656108	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT656107	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT656106	hsa-miR-5096	HITS-CLIP	23824327
MIRT656105	hsa-miR-1303	HITS-CLIP	23824327
MIRT733797	hsa-miR-107	Microarray, qRT-PCR	33789319
MIRT656117	hsa-miR-6858-3p	HITS-CLIP	23824327
MIRT656116	hsa-miR-4676-5p	HITS-CLIP	23824327
MIRT656115	hsa-miR-575	HITS-CLIP	23824327
MIRT656114	hsa-miR-2392	HITS-CLIP	23824327
MIRT656113	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT656112	hsa-miR-1193	HITS-CLIP	23824327
MIRT656111	hsa-miR-193b-5p	HITS-CLIP	23824327
MIRT656110	hsa-miR-4662a-5p	HITS-CLIP	23824327
MIRT656109	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT656108	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT656107	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT656106	hsa-miR-5096	HITS-CLIP	23824327
MIRT656105	hsa-miR-1303	HITS-CLIP	23824327
MIRT1161872	hsa-miR-1	CLIP-seq
MIRT1161873	hsa-miR-1200	CLIP-seq
MIRT1161874	hsa-miR-128	CLIP-seq
MIRT1161875	hsa-miR-1305	CLIP-seq
MIRT1161876	hsa-miR-136	CLIP-seq
MIRT1161877	hsa-miR-1976	CLIP-seq
MIRT1161878	hsa-miR-206	CLIP-seq
MIRT1161879	hsa-miR-2113	CLIP-seq
MIRT1161880	hsa-miR-2467-3p	CLIP-seq
MIRT1161881	hsa-miR-3138	CLIP-seq
MIRT1161882	hsa-miR-3153	CLIP-seq
MIRT1161883	hsa-miR-3199	CLIP-seq
MIRT1161884	hsa-miR-3678-3p	CLIP-seq
MIRT1161885	hsa-miR-377	CLIP-seq
MIRT1161886	hsa-miR-3941	CLIP-seq
MIRT1161887	hsa-miR-4279	CLIP-seq
MIRT1161888	hsa-miR-4297	CLIP-seq
MIRT1161889	hsa-miR-4324	CLIP-seq
MIRT1161890	hsa-miR-4491	CLIP-seq
MIRT1161891	hsa-miR-4497	CLIP-seq
MIRT1161892	hsa-miR-4657	CLIP-seq
MIRT1161893	hsa-miR-466	CLIP-seq
MIRT1161894	hsa-miR-4672	CLIP-seq
MIRT1161895	hsa-miR-4699-5p	CLIP-seq
MIRT1161896	hsa-miR-4722-3p	CLIP-seq
MIRT1161897	hsa-miR-4760-3p	CLIP-seq
MIRT1161898	hsa-miR-4781-3p	CLIP-seq
MIRT1161899	hsa-miR-4800-5p	CLIP-seq
MIRT1161900	hsa-miR-496	CLIP-seq
MIRT1161901	hsa-miR-544b	CLIP-seq
MIRT1161902	hsa-miR-548t	CLIP-seq
MIRT1161903	hsa-miR-552	CLIP-seq
MIRT1161904	hsa-miR-607	CLIP-seq
MIRT1161905	hsa-miR-613	CLIP-seq
MIRT1161906	hsa-miR-616	CLIP-seq
MIRT1161907	hsa-miR-640	CLIP-seq
MIRT1161908	hsa-miR-764	CLIP-seq
MIRT1161909	hsa-miR-938	CLIP-seq
MIRT1161876	hsa-miR-136	CLIP-seq
MIRT1161910	hsa-miR-150	CLIP-seq
MIRT1161877	hsa-miR-1976	CLIP-seq
MIRT1161887	hsa-miR-4279	CLIP-seq
MIRT1161888	hsa-miR-4297	CLIP-seq
MIRT1161891	hsa-miR-4497	CLIP-seq
MIRT1161911	hsa-miR-4757-5p	CLIP-seq
MIRT1161907	hsa-miR-640	CLIP-seq
MIRT1161912	hsa-miR-25	CLIP-seq
MIRT1161883	hsa-miR-3199	CLIP-seq
MIRT1161913	hsa-miR-32	CLIP-seq
MIRT1161914	hsa-miR-363	CLIP-seq
MIRT1161915	hsa-miR-367	CLIP-seq
MIRT1161916	hsa-miR-4277	CLIP-seq
MIRT1161917	hsa-miR-4317	CLIP-seq
MIRT1161918	hsa-miR-4325	CLIP-seq
MIRT1161903	hsa-miR-552	CLIP-seq
MIRT1161908	hsa-miR-764	CLIP-seq
MIRT1161919	hsa-miR-92a	CLIP-seq
MIRT1161920	hsa-miR-92b	CLIP-seq
MIRT1161876	hsa-miR-136	CLIP-seq
MIRT1161876	hsa-miR-136	CLIP-seq
MIRT1161877	hsa-miR-1976	CLIP-seq
MIRT1161907	hsa-miR-640	CLIP-seq
MIRT2046426	hsa-miR-4727-5p	CLIP-seq
MIRT2046427	hsa-miR-590-3p	CLIP-seq
MIRT2275505	hsa-miR-4695-3p	CLIP-seq
MIRT2275506	hsa-miR-4735-5p	CLIP-seq
MIRT2275507	hsa-miR-4775	CLIP-seq
MIRT2275508	hsa-miR-3670	CLIP-seq
MIRT2275509	hsa-miR-556-5p	CLIP-seq
MIRT1161885	hsa-miR-377	CLIP-seq
MIRT2391125	hsa-miR-587	CLIP-seq
MIRT2465671	hsa-miR-1281	CLIP-seq
MIRT1161910	hsa-miR-150	CLIP-seq
MIRT2465672	hsa-miR-498	CLIP-seq
MIRT2574514	hsa-miR-105	CLIP-seq
MIRT2574515	hsa-miR-1257	CLIP-seq
MIRT1161874	hsa-miR-128	CLIP-seq
MIRT2465671	hsa-miR-1281	CLIP-seq
MIRT2574516	hsa-miR-1298	CLIP-seq
MIRT2574517	hsa-miR-135a	CLIP-seq
MIRT2574518	hsa-miR-135b	CLIP-seq
MIRT2574519	hsa-miR-1468	CLIP-seq
MIRT1161910	hsa-miR-150	CLIP-seq
MIRT2574520	hsa-miR-1915	CLIP-seq
MIRT2574521	hsa-miR-197	CLIP-seq
MIRT2574522	hsa-miR-2116	CLIP-seq
MIRT2574523	hsa-miR-221	CLIP-seq
MIRT2574524	hsa-miR-222	CLIP-seq
MIRT2574525	hsa-miR-2355-3p	CLIP-seq
MIRT2574526	hsa-miR-3064-3p	CLIP-seq
MIRT2574527	hsa-miR-3121-5p	CLIP-seq
MIRT2574528	hsa-miR-3126-3p	CLIP-seq
MIRT2574529	hsa-miR-3128	CLIP-seq
MIRT2574530	hsa-miR-3135b	CLIP-seq
MIRT2574531	hsa-miR-3143	CLIP-seq
MIRT2574532	hsa-miR-3168	CLIP-seq
MIRT1161883	hsa-miR-3199	CLIP-seq
MIRT2574533	hsa-miR-3607-5p	CLIP-seq
MIRT2574534	hsa-miR-3611	CLIP-seq
MIRT2574535	hsa-miR-365	CLIP-seq
MIRT2574536	hsa-miR-3664-3p	CLIP-seq
MIRT2574537	hsa-miR-3925-3p	CLIP-seq
MIRT2574538	hsa-miR-3975	CLIP-seq
MIRT2574539	hsa-miR-411	CLIP-seq
MIRT2574540	hsa-miR-4257	CLIP-seq
MIRT2574541	hsa-miR-4282	CLIP-seq
MIRT2574542	hsa-miR-4433	CLIP-seq
MIRT2574543	hsa-miR-4459	CLIP-seq
MIRT2574544	hsa-miR-4487	CLIP-seq
MIRT2574545	hsa-miR-4641	CLIP-seq
MIRT2574546	hsa-miR-4720-5p	CLIP-seq
MIRT2275506	hsa-miR-4735-5p	CLIP-seq
MIRT2574547	hsa-miR-4738-3p	CLIP-seq
MIRT2574548	hsa-miR-4749-3p	CLIP-seq
MIRT2574549	hsa-miR-4768-3p	CLIP-seq
MIRT2275507	hsa-miR-4775	CLIP-seq
MIRT2574550	hsa-miR-4787-3p	CLIP-seq
MIRT2574551	hsa-miR-4794	CLIP-seq
MIRT2574552	hsa-miR-4797-3p	CLIP-seq
MIRT2574553	hsa-miR-4797-5p	CLIP-seq
MIRT2574554	hsa-miR-4799-3p	CLIP-seq
MIRT2574555	hsa-miR-4802-3p	CLIP-seq
MIRT2574556	hsa-miR-4803	CLIP-seq
MIRT2574557	hsa-miR-483-5p	CLIP-seq
MIRT2465672	hsa-miR-498	CLIP-seq
MIRT2574558	hsa-miR-499-3p	CLIP-seq
MIRT2574559	hsa-miR-499a-3p	CLIP-seq
MIRT2574560	hsa-miR-520a-5p	CLIP-seq
MIRT2574561	hsa-miR-525-5p	CLIP-seq
MIRT2574562	hsa-miR-548u	CLIP-seq
MIRT2574563	hsa-miR-570	CLIP-seq
MIRT2574564	hsa-miR-576-5p	CLIP-seq
MIRT2574565	hsa-miR-578	CLIP-seq
MIRT2391125	hsa-miR-587	CLIP-seq
MIRT2046427	hsa-miR-590-3p	CLIP-seq
MIRT2574566	hsa-miR-593	CLIP-seq
MIRT2574567	hsa-miR-676	CLIP-seq
MIRT2574568	hsa-miR-766	CLIP-seq
MIRT2685433	hsa-miR-1178	CLIP-seq
MIRT2685434	hsa-miR-1252	CLIP-seq
MIRT2465671	hsa-miR-1281	CLIP-seq
MIRT2685435	hsa-miR-1299	CLIP-seq
MIRT2574517	hsa-miR-135a	CLIP-seq
MIRT2574518	hsa-miR-135b	CLIP-seq
MIRT2685436	hsa-miR-137	CLIP-seq
MIRT1161910	hsa-miR-150	CLIP-seq
MIRT2685437	hsa-miR-1587	CLIP-seq
MIRT2574520	hsa-miR-1915	CLIP-seq
MIRT2574522	hsa-miR-2116	CLIP-seq
MIRT2574523	hsa-miR-221	CLIP-seq
MIRT2574524	hsa-miR-222	CLIP-seq
MIRT2574525	hsa-miR-2355-3p	CLIP-seq
MIRT2574526	hsa-miR-3064-3p	CLIP-seq
MIRT2574527	hsa-miR-3121-5p	CLIP-seq
MIRT2574528	hsa-miR-3126-3p	CLIP-seq
MIRT2574529	hsa-miR-3128	CLIP-seq
MIRT2574530	hsa-miR-3135b	CLIP-seq
MIRT2574532	hsa-miR-3168	CLIP-seq
MIRT1161883	hsa-miR-3199	CLIP-seq
MIRT2574534	hsa-miR-3611	CLIP-seq
MIRT2685438	hsa-miR-3652	CLIP-seq
MIRT2574536	hsa-miR-3664-3p	CLIP-seq
MIRT2685439	hsa-miR-3913-3p	CLIP-seq
MIRT2574538	hsa-miR-3975	CLIP-seq
MIRT2574539	hsa-miR-411	CLIP-seq
MIRT1161888	hsa-miR-4297	CLIP-seq
MIRT2685440	hsa-miR-4420	CLIP-seq
MIRT2685441	hsa-miR-4430	CLIP-seq
MIRT2574542	hsa-miR-4433	CLIP-seq
MIRT2574543	hsa-miR-4459	CLIP-seq
MIRT2574544	hsa-miR-4487	CLIP-seq
MIRT2685442	hsa-miR-4492	CLIP-seq
MIRT1161891	hsa-miR-4497	CLIP-seq
MIRT2685443	hsa-miR-4498	CLIP-seq
MIRT2685444	hsa-miR-4656	CLIP-seq
MIRT2685445	hsa-miR-4675	CLIP-seq
MIRT2574546	hsa-miR-4720-5p	CLIP-seq
MIRT2275506	hsa-miR-4735-5p	CLIP-seq
MIRT2685446	hsa-miR-4741	CLIP-seq
MIRT2574548	hsa-miR-4749-3p	CLIP-seq
MIRT2574549	hsa-miR-4768-3p	CLIP-seq
MIRT2275507	hsa-miR-4775	CLIP-seq
MIRT2574550	hsa-miR-4787-3p	CLIP-seq
MIRT2574551	hsa-miR-4794	CLIP-seq
MIRT2574552	hsa-miR-4797-3p	CLIP-seq
MIRT2574553	hsa-miR-4797-5p	CLIP-seq
MIRT2574554	hsa-miR-4799-3p	CLIP-seq
MIRT2574555	hsa-miR-4802-3p	CLIP-seq
MIRT2574557	hsa-miR-483-5p	CLIP-seq
MIRT2685447	hsa-miR-489	CLIP-seq
MIRT2465672	hsa-miR-498	CLIP-seq
MIRT2574558	hsa-miR-499-3p	CLIP-seq
MIRT2574559	hsa-miR-499a-3p	CLIP-seq
MIRT2685448	hsa-miR-550a	CLIP-seq
MIRT1161903	hsa-miR-552	CLIP-seq
MIRT2574563	hsa-miR-570	CLIP-seq
MIRT2046427	hsa-miR-590-3p	CLIP-seq
MIRT2574567	hsa-miR-676	CLIP-seq
MIRT2685449	hsa-miR-718	CLIP-seq
MIRT2685450	hsa-miR-762	CLIP-seq
MIRT1161908	hsa-miR-764	CLIP-seq
MIRT2685451	hsa-miR-875-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA	14699060
GO:0005783	Component	Endoplasmic reticulum	IDA	14699060
GO:0005829	Component	Cytosol	TAS
GO:0006979	Process	Response to oxidative stress	IEA
GO:0008270	Function	Zinc ion binding	IDA	14699060
GO:0030091	Process	Protein repair	IDA	14699060
GO:0030091	Process	Protein repair	TAS
GO:0033743	Function	Peptide-methionine (R)-S-oxide reductase activity	IBA	21873635
GO:0033743	Function	Peptide-methionine (R)-S-oxide reductase activity	IDA	14699060
GO:0033745	Function	L-methionine-(R)-S-oxide reductase activity	IEA

Other IDs

• MIM: 613719
• HGNC: 27375
• e!Ensembl: ENSG00000174099

Protein

• UniProt ID: Q8IXL7
• Protein name: Methionine-R-sulfoxide reductase B3 (MsrB3) (EC 1.8.4.12) (EC 1.8.4.14)
• Protein function: Catalyzes the reduction of free and protein-bound methionine sulfoxide to methionine. Isoform 2 is essential for hearing.
• PDB: 6QA0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01641	SelR	49 → 168	SelR domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:15914630, ECO:0000269|PubMed:21185009}.
• Sequence:

  MSPRRTLPRPLSLCLSLCLCLCLAAALGSAQSGSCRDKKNCKVVFSQQELRKRLTPLQYH
  VTQEKGTESAFEGEYTHHKDPGIYKCVVCGTPLFKSETKFDSGSGWPSFHDVINSEAITF
  TDDFSYGMHRVETSCSQCGAHLGHIFDDGPRPTGKRYCINSAALSFTPADSSGTAEGGSG
  VASPAQADKAEL

• Sequence length: 192

Pathways

Reactome:

Protein repair

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Deafness	DEAFNESS, AUTOSOMAL RECESSIVE 74	rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822, rs118203957, rs111706634, rs118203988, rs1559365985, rs118203989, rs1559371613, rs1559372640, rs1559366000, rs118204026, rs118204027, rs118204028, rs118204029, rs118204030, rs118204031, rs1601632909, rs779841884, rs104893975, rs1581972457, rs1562687726, rs1562687295, rs398122997, rs119103279, rs28940307, rs137852839, rs121918339, rs876661301, rs28942097, rs28941781, rs876657371, rs267607120, rs1567381218, rs193919333, rs1564568849, rs1023746725, rs121908072, rs121908073, rs1169090943, rs121908076, rs786200882, rs786200883, rs1569770998, rs1569726455, rs121908134, rs121908136, rs1569771486, rs1569712066, rs28937893, rs104893883, rs104893882, rs74315205, rs1584317722, rs111033308, rs80338848, rs28939086, rs80338849, rs111033244, rs111033303, rs121908364, rs121908362, rs121908363, rs765884316, rs111033307, rs111033348, rs2129315781, rs121908365, rs111033199, rs111033254, rs111033205, rs111033313, rs121908366, rs111033212, rs786200885, rs74315437, rs111033270, rs121908348, rs121908349, rs111033271, rs121908351, rs121908352, rs121908354, rs137853001, rs199469706, rs137853002, rs137853003, rs137852999, rs28939084, rs137853000, rs1480243085, rs397515359, rs151045328, rs121908370, rs104894414, rs80356600, rs80356584, rs2147483647, rs80356605, rs80356593, rs28937591, rs80356602, rs80356596, rs80356586, rs2128781753, rs28937588, rs80358277, rs28939710, rs80358271, rs80358278, rs80358276, rs80358272, rs80358279, rs121908927, rs121908929, rs28938175, rs121908930, rs121908932, rs121908934, rs121908965, rs121908966, rs121908967, rs121908968, rs748108031, rs121908969, rs121908971, rs769884586, rs121908972, rs746051220, rs1270302810, rs1567664131, rs121909058, rs966621865, rs121909059, rs121909060, rs1591437831, rs1281790755, rs121909061, rs121909063, rs1591462832, rs398124631, rs121909056, rs121909057, rs137853073, rs121909110, rs121909111, rs1476157529, rs104894478, rs80356460, rs121912557, rs1562201376, rs121912558, rs121912561, rs1562283089, rs121965079, rs41298133, rs28934610, rs121965081, rs2135550200, rs121965082, rs2135478294, rs121965084, rs1555102843, rs121918379, rs1372141763, rs121918380, rs1191259480, rs267607037, rs80338834, rs80338829, rs80338828, rs80338831, rs121913657, rs137853235, rs1788701297, rs35887622, rs80338944, rs104894396, rs104894397, rs80338939, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs886037624, rs80338943, rs80338945, rs104894401, rs104894406, rs104894407, rs72474224, rs886037625, rs28931595, rs28931593, rs80338940, rs104894413, rs104894409, rs72561723, rs121912947, rs121912948, rs121912950, rs28999111, rs104894544, rs104894545, rs104894546, rs104894547, rs267606630, rs267606631, rs267606932, rs1801002, rs80338941, rs80356587, rs80356590, rs80356591, rs80356595, rs80356594, rs80356598, rs281875328, rs281875329, rs80338950, rs201539845, rs387906700, rs387906915, rs387906930, rs387906999, rs387907000, rs748150647, rs387907001, rs946085339, rs387907002, rs387907015, rs387907016, rs387907017, rs75949023, rs387907088, rs149258390, rs387907149, rs782540538, rs397515411, rs370965183, rs397515412, rs1233562246, rs397514588, rs902734999, rs397514599, rs1029389440, rs397514607, rs397514608, rs397515435, rs111033206, rs111033201, rs397516295, rs111033437, rs111033233, rs199897298, rs111033214, rs111033178, rs111033347, rs111033187, rs111033174, rs111033448, rs111033182, rs397516317, rs368657015, rs397516322, rs111033215, rs111033232, rs397516326, rs111033283, rs111033285, rs397516411, rs111033314, rs397516413, rs397516414, rs111033305, rs111033220, rs111033311, rs111033306, rs397516416, rs397516417, rs111033407, rs397516418, rs111033316, rs111033312, rs397516420, rs111033257, rs397516421, rs397516424, rs111033309, rs111033318, rs397516427, rs111033241, rs111033302, rs145254330, rs111033380, rs111033242, rs111033256, rs111033454, rs111033245, rs111033297, rs111033451, rs111033293, rs111033361, rs397516871, rs111033299, rs111033204, rs111033253, rs397516873, rs104894408, rs111033295, rs397516874, rs76434661, rs111033217, rs111033420, rs111033335, rs111033294, rs111033190, rs111033401, rs200451098, rs397517287, rs373462792, rs372466080, rs397517323, rs56264519, rs374793617, rs201632198, rs147231991, rs181949335, rs397517452, rs202033121, rs151001642, rs370898981, rs188119157, rs111033383, rs111033405, rs199766465, rs111033373, rs111033349, rs587777040, rs397515581, rs397515582, rs1443739332, rs397515583, rs397515589, rs397515590, rs397515591, rs201329629, rs397515596, rs397515598, rs199848801, rs397515601, rs147321712, rs143939430, rs397515605, rs397515608, rs397515609, rs397515610, rs1648206560, rs398122967, rs398123006, rs398123070, rs431905513, rs431905517, rs431905518, rs200656442, rs587777147, rs199700840, rs1064792854, rs483352866, rs483353048, rs483353050, rs483353049, rs587777424, rs587777691, rs587777692, rs202138002, rs281865414, rs183258549, rs137853969, rs587783647, rs587783646, rs143343083, rs606231308, rs606231410, rs794729665, rs724160024, rs724160022, rs724160025, rs724160021, rs724160020, rs724160026, rs724160018, rs724160016, rs724160015, rs724160014, rs200147906, rs397515597, rs727504567, rs727505088, rs727503430, rs727503428, rs727505273, rs545947177, rs727504301, rs727503329, rs727504709, rs376764423, rs727503066, rs730880338, rs727504302, rs148690740, rs139956283, rs727503442, rs199839039, rs727503443, rs377480477, rs727503444, rs727504304, rs372526764, rs727503493, rs377015931, rs201587138, rs373937326, rs727503309, rs201978571, rs727503315, rs727505104, rs727503062, rs111033403, rs797044491, rs797044512, rs730882242, rs786201027, rs794728016, rs539699299, rs786204504, rs786204581, rs370588279, rs786204421, rs746238617, rs786204730, rs542620119, rs786204600, rs146281367, rs786204474, rs786204601, rs786204450, rs786204739, rs368119540, rs200455203, rs752807925, rs786204523, rs748706627, rs786204597, rs771748289, rs773528125, rs786204690, rs756484720, rs786204491, rs781534323, rs104894395, rs111033296, rs371024165, rs368027306, rs371100799, rs786204841, rs786205880, rs786205881, rs772264564, rs794729637, rs875989828, rs869320674, rs797044960, rs1553165199, rs797044965, rs797044966, rs797044967, rs797044968, rs797044969, rs797044970, rs797044972, rs797044907, rs797045596, rs778909195, rs863225243, rs863225431, rs863225432, rs864309523, rs864309524, rs869312750, rs869312749, rs754391973, rs201650281, rs397516875, rs532203068, rs876657776, rs762352115, rs876657653, rs757820624, rs138527651, rs773404494, rs876657754, rs876657656, rs876657658, rs766753922, rs759174628, rs876657725, rs772536599, rs765468034, rs184435771, rs143797113, rs782255281, rs876661405, rs876661408, rs777112652, rs878853223, rs878853225, rs878853229, rs878853230, rs753896285, rs140236996, rs878853224, rs878853235, rs878853236, rs878853226, rs774312182, rs878853232, rs878853239, rs377385081, rs878853227, rs878853228, rs878853238, rs878853231, rs878854409, rs878854410, rs878854412, rs878854413, rs878854414, rs878854415, rs779445819, rs774518779, rs1554358720, rs374742590, rs750188782, rs886043441, rs886043616, rs763975867, rs370730786, rs886044666, rs886052676, rs201636911, rs1057516658, rs1057516953, rs1057516988, rs1057516881, rs768245266, rs912147281, rs777333979, rs777008062, rs147952620, rs142498437, rs1057517000, rs376653349, rs1057516243, rs1057517303, rs542079779, rs1057516472, rs770832663, rs758685587, rs1057516342, rs757027638, rs1057517261, rs1057517251, rs1057517264, rs138138689, rs377145777, rs201892914, rs376535635, rs1057517521, rs770116143, rs1057517508, rs767178508, rs199883710, rs1057517491, rs1057517519, rs371086981, rs1057517839, rs766631025, rs201895089, rs1057519601, rs1057519603, rs779077039, rs1057519604, rs1057519606, rs1057519607, rs1057523846, rs763797356, rs139805921, rs1060499651, rs751447996, rs781688103, rs1060499805, rs1060499810, rs1060499799, rs1060499808, rs727503483, rs1056396947, rs1060499788, rs1060499791, rs778251205, rs1060499792, rs1060499793, rs1060499789, rs1060499790, rs764153521, rs1060499800, rs1060499803, rs1060499801, rs1060499802, rs747656448, rs1060499794, rs375916159, rs1060499804, rs1060499798, rs373520843, rs1060499811, rs1060499809, rs549095193, rs141142414, rs554847663, rs571594379, rs1555543836, rs549138385, rs1064797088, rs1064797096, rs1555501320, rs1131691778, rs748302886, rs756790858, rs777911261, rs768620276, rs200090033, rs775633137, rs372855769, rs780170125, rs1555512658, rs778748895, rs1355262412, rs782166819, rs782063761, rs1199012623, rs1378679640, rs1569308571, rs756147087, rs1554874373, rs1554856042, rs753580324, rs1553353527, rs1403112959, rs1553356452, rs1554352234, rs1554352676, rs1554355011, rs201562855, rs1554360358, rs1554360678, rs763006761, rs192366176, rs1554360816, rs749013429, rs1399914687, rs1554362735, rs1390562340, rs1554871816, rs758382198, rs750880909, rs1554874879, rs1554874900, rs1264310782, rs1554877797, rs144948296, rs1248889536, rs752649606, rs530520654, rs1555341794, rs141774369, rs760461823, rs537227442, rs750078356, rs773916549, rs782292032, rs1555546699, rs1477766714, rs1555896285, rs1555342014, rs775828835, rs574007567, rs1306586204, rs1555683951, rs781546107, rs769443188, rs771720649, rs769260536, rs762551629, rs1554882652, rs371465450, rs1554357231, rs1221876133, rs1293971731, rs775428246, rs772430523, rs1157646266, rs748854592, rs748868741, rs375459945, rs397517376, rs764178233, rs771264491, rs759523751, rs763915229, rs373058706, rs1555051455, rs782539587, rs1064797090, rs866476223, rs1555547112, rs1245338270, rs952235302, rs771844359, rs750130520, rs571007078, rs768257384, rs936479651, rs1554275988, rs551348450, rs1554218566, rs1553950635, rs1409994676, rs201326023, rs918684449, rs747076316, rs1554359693, rs1045933779, rs1554354787, rs1275009555, rs121908361, rs201660407, rs1554359670, rs1205712508, rs768471577, rs1554360707, rs142656144, rs1554362815, rs1554822897, rs1168400018, rs1554822703, rs1328440878, rs756692340, rs1554833249, rs1554883705, rs143842048, rs1304228309, rs778110397, rs1187887456, rs1298596518, rs1223763703, rs758555088, rs147956944, rs1207247951, rs1554960388, rs1554960390, rs771279169, rs1283092935, rs1317951509, rs1385324903, rs921755529, rs782064437, rs775496999, rs1253943370, rs568612627, rs1555341926, rs1555341931, rs1555342007, rs1555341783, rs1555341960, rs1555341993, rs1555341949, rs769486081, rs1555341954, rs749861944, rs961865375, rs369245990, rs148737918, rs759201338, rs1553191001, rs549556142, rs1330406146, rs998045226, rs375759781, rs1567658710, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs762876554, rs757327146, rs1564555185, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs751906778, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs1271250198, rs1567411469, rs1566528901, rs1302739538, rs1558014576, rs759414956, rs149712664, rs1567649945, rs1568839335, rs747955135, rs147717802, rs755471554, rs576724182, rs1564556995, rs762226905, rs773573968, rs1233145763, rs377748152, rs1564554148, rs1485674839, rs1562505728, rs1564803868, rs1565129771, rs756606635, rs774366025, rs1567620939, rs1557977732, rs773648511, rs1567396832, rs1557659237, rs1558482554, rs1558489384, rs1559875009, rs371544695, rs1562835480, rs1284633493, rs1562835515, rs746427774, rs1241745103, rs776268964, rs1187168418, rs1564386891, rs1564583413, rs1564544199, rs1564544348, rs1564795354, rs1344509500, rs1565536400, rs1591961566, rs1565331646, rs1565455391, rs1566528185, rs763904943, rs1567618790, rs1229200252, rs1567623176, rs866595552, rs1567638693, rs1555543432, rs1240409145, rs766250454, rs1568278651, rs1569034190, rs1569040134, rs1569042693, rs1569046250, rs1564602202, rs1564759653, rs1564791773, rs1565017125, rs1555076948, rs1338605788, rs751142446, rs773461233, rs1567658906, rs1429442821, rs201613240, rs202086317, rs1298804148, rs1291519904, rs763572195, rs1567624190, rs749136456, rs1418245706, rs1422767764, rs1562336726, rs1558472243, rs1274464930, rs1558485249, rs587783645, rs763898293, rs1591158999, rs771622183, rs1339709390, rs1584292992, rs760866131, rs1589156388, rs1591019480, rs1589072933, rs1591999307, rs111033477, rs889110926, rs1322423998, rs775776282, rs1597787868, rs984967571, rs760413427, rs773861155, rs1584344549, rs1720770872, rs773729617, rs752714222, rs1591224147, rs1597747826, rs1589079163, rs1589950125, rs1446588093, rs1591287317, rs1591310948, rs1591378140, rs1591514873, rs1597752877, rs766187994, rs281875327, rs1583335192, rs1598551290, rs111033290, rs1571147567, rs1571177726, rs1187285510, rs1584331188, rs1384677442, rs550153707, rs1583366400, rs1582024232, rs1599083635, rs1264383341, rs376104832, rs1366021609, rs757070287, rs1598914701, rs1601639680, rs759792660, rs1596339533, rs1601514990, rs1421964916, rs1952428470, rs1959056736, rs1442485603, rs2033273061, rs1407136283, rs963520367, rs951333133, rs1947057220, rs751369871, rs767270134, rs764867438, rs1288328459, rs2046752611, rs760069953, rs2032939837, rs1390498839, rs769983282, rs772048719, rs2094144044, rs1943288780, rs530874854	21185009, 24191262
Nonsyndromic deafness	Nonsyndromic Deafness	rs606231410, rs794729665, rs730880338, rs1566538321	21185009, 24191262, 26649646

Unknown
Disease term	Disease name	Evidence	References	Source
Glioblastoma	Glioblastoma	CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587		GWAS, CBGDA
Diabetes	Diabetes			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Alzheimer Disease	Associate	30775993
Brain Infarction	Associate	30775993
Brain Injuries	Associate	30775993
Colonic Neoplasms	Associate	37884639
Deafness	Associate	24949729
Hippocampal Sclerosis	Associate	36674637
Neoplasm Metastasis	Associate	25176350
Neoplasms	Associate	25176350
Non Muscle Invasive Bladder Neoplasms	Associate	31011911
Obesity	Associate	31900140
Prion Diseases	Associate	25313508
Snoring	Associate	32060260
Weight Gain	Associate	31900140