MTFMT (mitochondrial methionyl-tRNA formyltransferase)

Gene

• Entrez ID: 123263
• Gene name: Mitochondrial methionyl-tRNA formyltransferase
• Gene symbol: MTFMT
• Synonyms (NCBI Gene): COXPD15, FMT1, MC1DN27
• Disease Acronyms (UniProt): COXPD15, MC1DN27
• Chromosome: 15
• Chromosome location: 15q22.31
• Summary: The protein encoded by this nuclear gene localizes to the mitochondrion, where it catalyzes the formylation of methionyl-tRNA. [provided by RefSeq, Jun 2011]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs199599204	G>A,C,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign	Coding sequence variant, missense variant, non coding transcript variant, synonymous variant
rs200286768	G>A,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, synonymous variant, stop gained
rs201431517	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant, intron variant
rs372732702	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, synonymous variant
rs397514613	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs397514614	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs587777244	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs587777417	AGCACCCG>-	Pathogenic, likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs587777418	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs587777419	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs751294162	T>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs754222633	AA>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs777725264	CTTT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs863224897	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1064793194	A>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555404423	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020872	hsa-miR-155-5p	Proteomics	18668040
MIRT036679	hsa-miR-935	CLASH	23622248
MIRT696763	hsa-miR-3974	HITS-CLIP	23313552
MIRT696762	hsa-miR-624-3p	HITS-CLIP	23313552
MIRT696761	hsa-miR-4293	HITS-CLIP	23313552
MIRT696760	hsa-miR-4457	HITS-CLIP	23313552
MIRT696759	hsa-miR-125b-2-3p	HITS-CLIP	23313552
MIRT696758	hsa-miR-1288-5p	HITS-CLIP	23313552
MIRT696757	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT462508	hsa-miR-4433a-3p	HITS-CLIP	23313552
MIRT696756	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT696755	hsa-miR-4786-5p	HITS-CLIP	23313552
MIRT696754	hsa-miR-513b-5p	HITS-CLIP	23313552
MIRT462512	hsa-miR-6808-5p	PAR-CLIP	20371350
MIRT462511	hsa-miR-6893-5p	PAR-CLIP	20371350
MIRT462510	hsa-miR-940	PAR-CLIP	20371350
MIRT462509	hsa-miR-4459	PAR-CLIP	20371350
MIRT462508	hsa-miR-4433a-3p	PAR-CLIP	20371350
MIRT462507	hsa-miR-665	PAR-CLIP	20371350
MIRT462506	hsa-miR-6840-3p	PAR-CLIP	20371350
MIRT462505	hsa-miR-635	PAR-CLIP	20371350
MIRT462504	hsa-miR-6774-5p	PAR-CLIP	20371350
MIRT462503	hsa-miR-4722-5p	PAR-CLIP	20371350
MIRT462502	hsa-miR-6894-5p	PAR-CLIP	20371350
MIRT462501	hsa-miR-296-5p	PAR-CLIP	20371350
MIRT462500	hsa-miR-1273e	PAR-CLIP	20371350
MIRT462499	hsa-miR-6724-5p	PAR-CLIP	20371350
MIRT462498	hsa-miR-6773-5p	PAR-CLIP	20371350
MIRT462509	hsa-miR-4459	PAR-CLIP	20371350
MIRT462508	hsa-miR-4433a-3p	PAR-CLIP	20371350
MIRT462507	hsa-miR-665	PAR-CLIP	20371350
MIRT462506	hsa-miR-6840-3p	PAR-CLIP	20371350
MIRT462505	hsa-miR-635	PAR-CLIP	20371350
MIRT462504	hsa-miR-6774-5p	PAR-CLIP	20371350
MIRT462503	hsa-miR-4722-5p	PAR-CLIP	20371350
MIRT462502	hsa-miR-6894-5p	PAR-CLIP	20371350
MIRT462501	hsa-miR-296-5p	PAR-CLIP	20371350
MIRT462500	hsa-miR-1273e	PAR-CLIP	20371350
MIRT462499	hsa-miR-6724-5p	PAR-CLIP	20371350
MIRT462498	hsa-miR-6773-5p	PAR-CLIP	20371350
MIRT462513	hsa-miR-3714	PAR-CLIP	21572407
MIRT462512	hsa-miR-6808-5p	PAR-CLIP	21572407
MIRT462511	hsa-miR-6893-5p	PAR-CLIP	21572407
MIRT462510	hsa-miR-940	PAR-CLIP	21572407
MIRT462509	hsa-miR-4459	PAR-CLIP	21572407
MIRT462508	hsa-miR-4433a-3p	PAR-CLIP	21572407
MIRT462507	hsa-miR-665	PAR-CLIP	21572407
MIRT462506	hsa-miR-6840-3p	PAR-CLIP	21572407
MIRT462505	hsa-miR-635	PAR-CLIP	21572407
MIRT462504	hsa-miR-6774-5p	PAR-CLIP	21572407
MIRT462503	hsa-miR-4722-5p	PAR-CLIP	21572407
MIRT462502	hsa-miR-6894-5p	PAR-CLIP	21572407
MIRT462501	hsa-miR-296-5p	PAR-CLIP	21572407
MIRT462500	hsa-miR-1273e	PAR-CLIP	21572407
MIRT462499	hsa-miR-6724-5p	PAR-CLIP	21572407
MIRT462498	hsa-miR-6773-5p	PAR-CLIP	21572407
MIRT462513	hsa-miR-3714	PAR-CLIP	21572407
MIRT462512	hsa-miR-6808-5p	PAR-CLIP	21572407
MIRT462511	hsa-miR-6893-5p	PAR-CLIP	21572407
MIRT462510	hsa-miR-940	PAR-CLIP	21572407
MIRT462509	hsa-miR-4459	PAR-CLIP	21572407
MIRT462508	hsa-miR-4433a-3p	PAR-CLIP	21572407
MIRT462507	hsa-miR-665	PAR-CLIP	21572407
MIRT462506	hsa-miR-6840-3p	PAR-CLIP	21572407
MIRT462505	hsa-miR-635	PAR-CLIP	21572407
MIRT462504	hsa-miR-6774-5p	PAR-CLIP	21572407
MIRT462503	hsa-miR-4722-5p	PAR-CLIP	21572407
MIRT462502	hsa-miR-6894-5p	PAR-CLIP	21572407
MIRT462501	hsa-miR-296-5p	PAR-CLIP	21572407
MIRT462500	hsa-miR-1273e	PAR-CLIP	21572407
MIRT462499	hsa-miR-6724-5p	PAR-CLIP	21572407
MIRT462498	hsa-miR-6773-5p	PAR-CLIP	21572407
MIRT462512	hsa-miR-6808-5p	PAR-CLIP	23446348
MIRT462511	hsa-miR-6893-5p	PAR-CLIP	23446348
MIRT462510	hsa-miR-940	PAR-CLIP	23446348
MIRT462509	hsa-miR-4459	PAR-CLIP	23446348
MIRT462508	hsa-miR-4433a-3p	PAR-CLIP	23446348
MIRT462507	hsa-miR-665	PAR-CLIP	23446348
MIRT462506	hsa-miR-6840-3p	PAR-CLIP	23446348
MIRT462505	hsa-miR-635	PAR-CLIP	23446348
MIRT462504	hsa-miR-6774-5p	PAR-CLIP	23446348
MIRT462503	hsa-miR-4722-5p	PAR-CLIP	23446348
MIRT462502	hsa-miR-6894-5p	PAR-CLIP	23446348
MIRT462501	hsa-miR-296-5p	PAR-CLIP	23446348
MIRT462500	hsa-miR-1273e	PAR-CLIP	23446348
MIRT462499	hsa-miR-6724-5p	PAR-CLIP	23446348
MIRT462498	hsa-miR-6773-5p	PAR-CLIP	23446348
MIRT462513	hsa-miR-3714	PAR-CLIP	23592263
MIRT462512	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT462511	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT462510	hsa-miR-940	PAR-CLIP	23592263
MIRT462509	hsa-miR-4459	PAR-CLIP	23592263
MIRT462508	hsa-miR-4433a-3p	PAR-CLIP	23592263
MIRT462507	hsa-miR-665	PAR-CLIP	23592263
MIRT462506	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT462505	hsa-miR-635	PAR-CLIP	23592263
MIRT462504	hsa-miR-6774-5p	PAR-CLIP	23592263
MIRT462503	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT462502	hsa-miR-6894-5p	PAR-CLIP	23592263
MIRT462501	hsa-miR-296-5p	PAR-CLIP	23592263
MIRT462500	hsa-miR-1273e	PAR-CLIP	23592263
MIRT462499	hsa-miR-6724-5p	PAR-CLIP	23592263
MIRT462498	hsa-miR-6773-5p	PAR-CLIP	23592263
MIRT696763	hsa-miR-3974	HITS-CLIP	23313552
MIRT696762	hsa-miR-624-3p	HITS-CLIP	23313552
MIRT696761	hsa-miR-4293	HITS-CLIP	23313552
MIRT696760	hsa-miR-4457	HITS-CLIP	23313552
MIRT696759	hsa-miR-125b-2-3p	HITS-CLIP	23313552
MIRT696758	hsa-miR-1288-5p	HITS-CLIP	23313552
MIRT696757	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT462508	hsa-miR-4433a-3p	HITS-CLIP	23313552
MIRT696756	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT696755	hsa-miR-4786-5p	HITS-CLIP	23313552
MIRT696754	hsa-miR-513b-5p	HITS-CLIP	23313552
MIRT462512	hsa-miR-6808-5p	PAR-CLIP	20371350
MIRT462511	hsa-miR-6893-5p	PAR-CLIP	20371350
MIRT462510	hsa-miR-940	PAR-CLIP	20371350
MIRT462509	hsa-miR-4459	PAR-CLIP	20371350
MIRT462508	hsa-miR-4433a-3p	PAR-CLIP	20371350
MIRT462507	hsa-miR-665	PAR-CLIP	20371350
MIRT462506	hsa-miR-6840-3p	PAR-CLIP	20371350
MIRT462505	hsa-miR-635	PAR-CLIP	20371350
MIRT462504	hsa-miR-6774-5p	PAR-CLIP	20371350
MIRT462503	hsa-miR-4722-5p	PAR-CLIP	20371350
MIRT462502	hsa-miR-6894-5p	PAR-CLIP	20371350
MIRT462501	hsa-miR-296-5p	PAR-CLIP	20371350
MIRT462500	hsa-miR-1273e	PAR-CLIP	20371350
MIRT462499	hsa-miR-6724-5p	PAR-CLIP	20371350
MIRT462498	hsa-miR-6773-5p	PAR-CLIP	20371350
MIRT462509	hsa-miR-4459	PAR-CLIP	20371350
MIRT462508	hsa-miR-4433a-3p	PAR-CLIP	20371350
MIRT462507	hsa-miR-665	PAR-CLIP	20371350
MIRT462506	hsa-miR-6840-3p	PAR-CLIP	20371350
MIRT462505	hsa-miR-635	PAR-CLIP	20371350
MIRT462504	hsa-miR-6774-5p	PAR-CLIP	20371350
MIRT462503	hsa-miR-4722-5p	PAR-CLIP	20371350
MIRT462502	hsa-miR-6894-5p	PAR-CLIP	20371350
MIRT462501	hsa-miR-296-5p	PAR-CLIP	20371350
MIRT462500	hsa-miR-1273e	PAR-CLIP	20371350
MIRT462499	hsa-miR-6724-5p	PAR-CLIP	20371350
MIRT462498	hsa-miR-6773-5p	PAR-CLIP	20371350
MIRT462513	hsa-miR-3714	PAR-CLIP	21572407
MIRT462512	hsa-miR-6808-5p	PAR-CLIP	21572407
MIRT462511	hsa-miR-6893-5p	PAR-CLIP	21572407
MIRT462510	hsa-miR-940	PAR-CLIP	21572407
MIRT462509	hsa-miR-4459	PAR-CLIP	21572407
MIRT462508	hsa-miR-4433a-3p	PAR-CLIP	21572407
MIRT462507	hsa-miR-665	PAR-CLIP	21572407
MIRT462506	hsa-miR-6840-3p	PAR-CLIP	21572407
MIRT462505	hsa-miR-635	PAR-CLIP	21572407
MIRT462504	hsa-miR-6774-5p	PAR-CLIP	21572407
MIRT462503	hsa-miR-4722-5p	PAR-CLIP	21572407
MIRT462502	hsa-miR-6894-5p	PAR-CLIP	21572407
MIRT462501	hsa-miR-296-5p	PAR-CLIP	21572407
MIRT462500	hsa-miR-1273e	PAR-CLIP	21572407
MIRT462499	hsa-miR-6724-5p	PAR-CLIP	21572407
MIRT462498	hsa-miR-6773-5p	PAR-CLIP	21572407
MIRT462513	hsa-miR-3714	PAR-CLIP	21572407
MIRT462512	hsa-miR-6808-5p	PAR-CLIP	21572407
MIRT462511	hsa-miR-6893-5p	PAR-CLIP	21572407
MIRT462510	hsa-miR-940	PAR-CLIP	21572407
MIRT462509	hsa-miR-4459	PAR-CLIP	21572407
MIRT462508	hsa-miR-4433a-3p	PAR-CLIP	21572407
MIRT462507	hsa-miR-665	PAR-CLIP	21572407
MIRT462506	hsa-miR-6840-3p	PAR-CLIP	21572407
MIRT462505	hsa-miR-635	PAR-CLIP	21572407
MIRT462504	hsa-miR-6774-5p	PAR-CLIP	21572407
MIRT462503	hsa-miR-4722-5p	PAR-CLIP	21572407
MIRT462502	hsa-miR-6894-5p	PAR-CLIP	21572407
MIRT462501	hsa-miR-296-5p	PAR-CLIP	21572407
MIRT462500	hsa-miR-1273e	PAR-CLIP	21572407
MIRT462499	hsa-miR-6724-5p	PAR-CLIP	21572407
MIRT462498	hsa-miR-6773-5p	PAR-CLIP	21572407
MIRT462512	hsa-miR-6808-5p	PAR-CLIP	23446348
MIRT462511	hsa-miR-6893-5p	PAR-CLIP	23446348
MIRT462510	hsa-miR-940	PAR-CLIP	23446348
MIRT462509	hsa-miR-4459	PAR-CLIP	23446348
MIRT462508	hsa-miR-4433a-3p	PAR-CLIP	23446348
MIRT462507	hsa-miR-665	PAR-CLIP	23446348
MIRT462506	hsa-miR-6840-3p	PAR-CLIP	23446348
MIRT462505	hsa-miR-635	PAR-CLIP	23446348
MIRT462504	hsa-miR-6774-5p	PAR-CLIP	23446348
MIRT462503	hsa-miR-4722-5p	PAR-CLIP	23446348
MIRT462502	hsa-miR-6894-5p	PAR-CLIP	23446348
MIRT462501	hsa-miR-296-5p	PAR-CLIP	23446348
MIRT462500	hsa-miR-1273e	PAR-CLIP	23446348
MIRT462499	hsa-miR-6724-5p	PAR-CLIP	23446348
MIRT462498	hsa-miR-6773-5p	PAR-CLIP	23446348
MIRT462513	hsa-miR-3714	PAR-CLIP	23592263
MIRT462512	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT462511	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT462510	hsa-miR-940	PAR-CLIP	23592263
MIRT462509	hsa-miR-4459	PAR-CLIP	23592263
MIRT462508	hsa-miR-4433a-3p	PAR-CLIP	23592263
MIRT462507	hsa-miR-665	PAR-CLIP	23592263
MIRT462506	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT462505	hsa-miR-635	PAR-CLIP	23592263
MIRT462504	hsa-miR-6774-5p	PAR-CLIP	23592263
MIRT462503	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT462502	hsa-miR-6894-5p	PAR-CLIP	23592263
MIRT462501	hsa-miR-296-5p	PAR-CLIP	23592263
MIRT462500	hsa-miR-1273e	PAR-CLIP	23592263
MIRT462499	hsa-miR-6724-5p	PAR-CLIP	23592263
MIRT462498	hsa-miR-6773-5p	PAR-CLIP	23592263
MIRT1163015	hsa-miR-103b	CLIP-seq
MIRT1163016	hsa-miR-1236	CLIP-seq
MIRT1163017	hsa-miR-1243	CLIP-seq
MIRT1163018	hsa-miR-1262	CLIP-seq
MIRT1163019	hsa-miR-1827	CLIP-seq
MIRT1163020	hsa-miR-198	CLIP-seq
MIRT1163021	hsa-miR-2114	CLIP-seq
MIRT1163022	hsa-miR-223	CLIP-seq
MIRT1163023	hsa-miR-3122	CLIP-seq
MIRT1163024	hsa-miR-3160-3p	CLIP-seq
MIRT1163025	hsa-miR-3165	CLIP-seq
MIRT1163026	hsa-miR-3607-3p	CLIP-seq
MIRT1163027	hsa-miR-365	CLIP-seq
MIRT1163028	hsa-miR-3650	CLIP-seq
MIRT1163029	hsa-miR-3656	CLIP-seq
MIRT1163030	hsa-miR-3662	CLIP-seq
MIRT1163031	hsa-miR-3667-5p	CLIP-seq
MIRT1163032	hsa-miR-3672	CLIP-seq
MIRT1163033	hsa-miR-3675-3p	CLIP-seq
MIRT1163034	hsa-miR-3686	CLIP-seq
MIRT1163035	hsa-miR-3689a-3p	CLIP-seq
MIRT1163036	hsa-miR-3689c	CLIP-seq
MIRT1163037	hsa-miR-3689d	CLIP-seq
MIRT1163038	hsa-miR-369-3p	CLIP-seq
MIRT1163039	hsa-miR-371-3p	CLIP-seq
MIRT1163040	hsa-miR-371b-3p	CLIP-seq
MIRT1163041	hsa-miR-374a	CLIP-seq
MIRT1163042	hsa-miR-374b	CLIP-seq
MIRT1163043	hsa-miR-3913-3p	CLIP-seq
MIRT1163044	hsa-miR-3913-5p	CLIP-seq
MIRT1163045	hsa-miR-3929	CLIP-seq
MIRT1163046	hsa-miR-4320	CLIP-seq
MIRT1163047	hsa-miR-4327	CLIP-seq
MIRT1163048	hsa-miR-4419b	CLIP-seq
MIRT1163049	hsa-miR-4433	CLIP-seq
MIRT1163050	hsa-miR-4462	CLIP-seq
MIRT1163051	hsa-miR-4478	CLIP-seq
MIRT1163052	hsa-miR-4487	CLIP-seq
MIRT1163053	hsa-miR-4633-3p	CLIP-seq
MIRT1163054	hsa-miR-4649-3p	CLIP-seq
MIRT1163055	hsa-miR-4683	CLIP-seq
MIRT1163056	hsa-miR-4697-3p	CLIP-seq
MIRT1163057	hsa-miR-4701-3p	CLIP-seq
MIRT1163058	hsa-miR-4728-5p	CLIP-seq
MIRT1163059	hsa-miR-4730	CLIP-seq
MIRT1163060	hsa-miR-4753-3p	CLIP-seq
MIRT1163061	hsa-miR-4778-3p	CLIP-seq
MIRT1163062	hsa-miR-4790-3p	CLIP-seq
MIRT1163063	hsa-miR-4797-5p	CLIP-seq
MIRT1163064	hsa-miR-485-5p	CLIP-seq
MIRT1163065	hsa-miR-488	CLIP-seq
MIRT1163066	hsa-miR-489	CLIP-seq
MIRT1163067	hsa-miR-502-5p	CLIP-seq
MIRT1163068	hsa-miR-515-3p	CLIP-seq
MIRT1163069	hsa-miR-519e	CLIP-seq
MIRT1163070	hsa-miR-542-3p	CLIP-seq
MIRT1163071	hsa-miR-558	CLIP-seq
MIRT1163072	hsa-miR-658	CLIP-seq
MIRT1163073	hsa-miR-661	CLIP-seq
MIRT1163074	hsa-miR-759	CLIP-seq
MIRT1163075	hsa-miR-765	CLIP-seq
MIRT738773	hsa-miR-890	CLIP-seq
MIRT1163076	hsa-miR-942	CLIP-seq
MIRT1163028	hsa-miR-3650	CLIP-seq
MIRT1163037	hsa-miR-3689d	CLIP-seq
MIRT1163053	hsa-miR-4633-3p	CLIP-seq
MIRT1163062	hsa-miR-4790-3p	CLIP-seq
MIRT1163015	hsa-miR-103b	CLIP-seq
MIRT2046808	hsa-miR-1227	CLIP-seq
MIRT1163017	hsa-miR-1243	CLIP-seq
MIRT1163018	hsa-miR-1262	CLIP-seq
MIRT1163019	hsa-miR-1827	CLIP-seq
MIRT2046809	hsa-miR-2054	CLIP-seq
MIRT1163021	hsa-miR-2114	CLIP-seq
MIRT2046810	hsa-miR-2964a-3p	CLIP-seq
MIRT2046811	hsa-miR-302f	CLIP-seq
MIRT1163023	hsa-miR-3122	CLIP-seq
MIRT1163024	hsa-miR-3160-3p	CLIP-seq
MIRT2046812	hsa-miR-3192	CLIP-seq
MIRT1163026	hsa-miR-3607-3p	CLIP-seq
MIRT2046813	hsa-miR-3622b-5p	CLIP-seq
MIRT1163028	hsa-miR-3650	CLIP-seq
MIRT2046814	hsa-miR-3654	CLIP-seq
MIRT2046815	hsa-miR-3664-3p	CLIP-seq
MIRT1163032	hsa-miR-3672	CLIP-seq
MIRT1163033	hsa-miR-3675-3p	CLIP-seq
MIRT1163034	hsa-miR-3686	CLIP-seq
MIRT1163035	hsa-miR-3689a-3p	CLIP-seq
MIRT1163036	hsa-miR-3689c	CLIP-seq
MIRT1163037	hsa-miR-3689d	CLIP-seq
MIRT1163039	hsa-miR-371-3p	CLIP-seq
MIRT1163040	hsa-miR-371b-3p	CLIP-seq
MIRT2046816	hsa-miR-378	CLIP-seq
MIRT2046817	hsa-miR-378b	CLIP-seq
MIRT2046818	hsa-miR-378c	CLIP-seq
MIRT2046819	hsa-miR-378d	CLIP-seq
MIRT2046820	hsa-miR-378e	CLIP-seq
MIRT2046821	hsa-miR-378f	CLIP-seq
MIRT2046822	hsa-miR-378h	CLIP-seq
MIRT2046823	hsa-miR-378i	CLIP-seq
MIRT1163044	hsa-miR-3913-5p	CLIP-seq
MIRT1163045	hsa-miR-3929	CLIP-seq
MIRT2046824	hsa-miR-422a	CLIP-seq
MIRT2046825	hsa-miR-4252	CLIP-seq
MIRT1163048	hsa-miR-4419b	CLIP-seq
MIRT1163049	hsa-miR-4433	CLIP-seq
MIRT1163051	hsa-miR-4478	CLIP-seq
MIRT1163052	hsa-miR-4487	CLIP-seq
MIRT1163053	hsa-miR-4633-3p	CLIP-seq
MIRT2046826	hsa-miR-4645-5p	CLIP-seq
MIRT1163054	hsa-miR-4649-3p	CLIP-seq
MIRT2046827	hsa-miR-4662a-5p	CLIP-seq
MIRT2046828	hsa-miR-4673	CLIP-seq
MIRT2046829	hsa-miR-4676-5p	CLIP-seq
MIRT2046830	hsa-miR-4684-5p	CLIP-seq
MIRT2046831	hsa-miR-4695-5p	CLIP-seq
MIRT1163057	hsa-miR-4701-3p	CLIP-seq
MIRT1163058	hsa-miR-4728-5p	CLIP-seq
MIRT1163059	hsa-miR-4730	CLIP-seq
MIRT2046832	hsa-miR-4755-3p	CLIP-seq
MIRT1163061	hsa-miR-4778-3p	CLIP-seq
MIRT1163062	hsa-miR-4790-3p	CLIP-seq
MIRT1163063	hsa-miR-4797-5p	CLIP-seq
MIRT1163064	hsa-miR-485-5p	CLIP-seq
MIRT2046833	hsa-miR-490-3p	CLIP-seq
MIRT2046834	hsa-miR-508-5p	CLIP-seq
MIRT2046835	hsa-miR-510	CLIP-seq
MIRT2046836	hsa-miR-512-5p	CLIP-seq
MIRT1163068	hsa-miR-515-3p	CLIP-seq
MIRT1163069	hsa-miR-519e	CLIP-seq
MIRT1163070	hsa-miR-542-3p	CLIP-seq
MIRT2046837	hsa-miR-550a	CLIP-seq
MIRT1163071	hsa-miR-558	CLIP-seq
MIRT2046838	hsa-miR-575	CLIP-seq
MIRT1163072	hsa-miR-658	CLIP-seq
MIRT1163073	hsa-miR-661	CLIP-seq
MIRT1163074	hsa-miR-759	CLIP-seq
MIRT738773	hsa-miR-890	CLIP-seq
MIRT1163015	hsa-miR-103b	CLIP-seq
MIRT1163017	hsa-miR-1243	CLIP-seq
MIRT1163018	hsa-miR-1262	CLIP-seq
MIRT1163019	hsa-miR-1827	CLIP-seq
MIRT1163021	hsa-miR-2114	CLIP-seq
MIRT2275921	hsa-miR-2467-5p	CLIP-seq
MIRT2046810	hsa-miR-2964a-3p	CLIP-seq
MIRT2046811	hsa-miR-302f	CLIP-seq
MIRT1163023	hsa-miR-3122	CLIP-seq
MIRT2275922	hsa-miR-3135b	CLIP-seq
MIRT1163024	hsa-miR-3160-3p	CLIP-seq
MIRT1163025	hsa-miR-3165	CLIP-seq
MIRT2275923	hsa-miR-3188	CLIP-seq
MIRT2046812	hsa-miR-3192	CLIP-seq
MIRT1163026	hsa-miR-3607-3p	CLIP-seq
MIRT1163028	hsa-miR-3650	CLIP-seq
MIRT2275924	hsa-miR-3652	CLIP-seq
MIRT1163029	hsa-miR-3656	CLIP-seq
MIRT2046815	hsa-miR-3664-3p	CLIP-seq
MIRT1163032	hsa-miR-3672	CLIP-seq
MIRT1163034	hsa-miR-3686	CLIP-seq
MIRT1163035	hsa-miR-3689a-3p	CLIP-seq
MIRT1163036	hsa-miR-3689c	CLIP-seq
MIRT1163037	hsa-miR-3689d	CLIP-seq
MIRT1163039	hsa-miR-371-3p	CLIP-seq
MIRT1163040	hsa-miR-371b-3p	CLIP-seq
MIRT1163044	hsa-miR-3913-5p	CLIP-seq
MIRT1163045	hsa-miR-3929	CLIP-seq
MIRT2275925	hsa-miR-3975	CLIP-seq
MIRT2046825	hsa-miR-4252	CLIP-seq
MIRT2275926	hsa-miR-4286	CLIP-seq
MIRT1163046	hsa-miR-4320	CLIP-seq
MIRT1163047	hsa-miR-4327	CLIP-seq
MIRT1163048	hsa-miR-4419b	CLIP-seq
MIRT2275927	hsa-miR-4430	CLIP-seq
MIRT1163049	hsa-miR-4433	CLIP-seq
MIRT1163051	hsa-miR-4478	CLIP-seq
MIRT1163052	hsa-miR-4487	CLIP-seq
MIRT1163053	hsa-miR-4633-3p	CLIP-seq
MIRT2275928	hsa-miR-4640-5p	CLIP-seq
MIRT1163054	hsa-miR-4649-3p	CLIP-seq
MIRT1163055	hsa-miR-4683	CLIP-seq
MIRT2046831	hsa-miR-4695-5p	CLIP-seq
MIRT1163057	hsa-miR-4701-3p	CLIP-seq
MIRT2275929	hsa-miR-4726-5p	CLIP-seq
MIRT1163058	hsa-miR-4728-5p	CLIP-seq
MIRT1163059	hsa-miR-4730	CLIP-seq
MIRT1163061	hsa-miR-4778-3p	CLIP-seq
MIRT1163062	hsa-miR-4790-3p	CLIP-seq
MIRT2275930	hsa-miR-4793-3p	CLIP-seq
MIRT2275931	hsa-miR-4793-5p	CLIP-seq
MIRT2275932	hsa-miR-4794	CLIP-seq
MIRT1163063	hsa-miR-4797-5p	CLIP-seq
MIRT1163064	hsa-miR-485-5p	CLIP-seq
MIRT2046833	hsa-miR-490-3p	CLIP-seq
MIRT2046834	hsa-miR-508-5p	CLIP-seq
MIRT2046835	hsa-miR-510	CLIP-seq
MIRT2046836	hsa-miR-512-5p	CLIP-seq
MIRT2275933	hsa-miR-513b	CLIP-seq
MIRT1163068	hsa-miR-515-3p	CLIP-seq
MIRT1163069	hsa-miR-519e	CLIP-seq
MIRT2275934	hsa-miR-541	CLIP-seq
MIRT1163070	hsa-miR-542-3p	CLIP-seq
MIRT1163071	hsa-miR-558	CLIP-seq
MIRT2275935	hsa-miR-624	CLIP-seq
MIRT2275936	hsa-miR-654-5p	CLIP-seq
MIRT1163072	hsa-miR-658	CLIP-seq
MIRT1163073	hsa-miR-661	CLIP-seq
MIRT1163074	hsa-miR-759	CLIP-seq
MIRT1163075	hsa-miR-765	CLIP-seq
MIRT2275937	hsa-miR-766	CLIP-seq
MIRT738773	hsa-miR-890	CLIP-seq
MIRT1163019	hsa-miR-1827	CLIP-seq
MIRT1163023	hsa-miR-3122	CLIP-seq
MIRT1163024	hsa-miR-3160-3p	CLIP-seq
MIRT1163025	hsa-miR-3165	CLIP-seq
MIRT1163029	hsa-miR-3656	CLIP-seq
MIRT1163035	hsa-miR-3689a-3p	CLIP-seq
MIRT1163036	hsa-miR-3689c	CLIP-seq
MIRT1163043	hsa-miR-3913-3p	CLIP-seq
MIRT1163044	hsa-miR-3913-5p	CLIP-seq
MIRT1163045	hsa-miR-3929	CLIP-seq
MIRT2046825	hsa-miR-4252	CLIP-seq
MIRT1163048	hsa-miR-4419b	CLIP-seq
MIRT1163049	hsa-miR-4433	CLIP-seq
MIRT1163051	hsa-miR-4478	CLIP-seq
MIRT1163052	hsa-miR-4487	CLIP-seq
MIRT2275928	hsa-miR-4640-5p	CLIP-seq
MIRT1163055	hsa-miR-4683	CLIP-seq
MIRT2275929	hsa-miR-4726-5p	CLIP-seq
MIRT1163058	hsa-miR-4728-5p	CLIP-seq
MIRT2275930	hsa-miR-4793-3p	CLIP-seq
MIRT2275931	hsa-miR-4793-5p	CLIP-seq
MIRT2275932	hsa-miR-4794	CLIP-seq
MIRT1163064	hsa-miR-485-5p	CLIP-seq
MIRT1163066	hsa-miR-489	CLIP-seq
MIRT2046834	hsa-miR-508-5p	CLIP-seq
MIRT1163071	hsa-miR-558	CLIP-seq
MIRT1163073	hsa-miR-661	CLIP-seq
MIRT2275937	hsa-miR-766	CLIP-seq
MIRT1163019	hsa-miR-1827	CLIP-seq
MIRT2454543	hsa-miR-22	CLIP-seq
MIRT2046810	hsa-miR-2964a-3p	CLIP-seq
MIRT2046811	hsa-miR-302f	CLIP-seq
MIRT1163023	hsa-miR-3122	CLIP-seq
MIRT1163025	hsa-miR-3165	CLIP-seq
MIRT2046812	hsa-miR-3192	CLIP-seq
MIRT2454544	hsa-miR-3613-3p	CLIP-seq
MIRT1163029	hsa-miR-3656	CLIP-seq
MIRT2046815	hsa-miR-3664-3p	CLIP-seq
MIRT1163033	hsa-miR-3675-3p	CLIP-seq
MIRT1163035	hsa-miR-3689a-3p	CLIP-seq
MIRT1163036	hsa-miR-3689c	CLIP-seq
MIRT1163044	hsa-miR-3913-5p	CLIP-seq
MIRT1163045	hsa-miR-3929	CLIP-seq
MIRT1163048	hsa-miR-4419b	CLIP-seq
MIRT1163049	hsa-miR-4433	CLIP-seq
MIRT1163051	hsa-miR-4478	CLIP-seq
MIRT2454545	hsa-miR-4520a-5p	CLIP-seq
MIRT2454546	hsa-miR-4520b-5p	CLIP-seq
MIRT1163054	hsa-miR-4649-3p	CLIP-seq
MIRT1163055	hsa-miR-4683	CLIP-seq
MIRT2046830	hsa-miR-4684-5p	CLIP-seq
MIRT2046831	hsa-miR-4695-5p	CLIP-seq
MIRT1163058	hsa-miR-4728-5p	CLIP-seq
MIRT1163064	hsa-miR-485-5p	CLIP-seq
MIRT2046833	hsa-miR-490-3p	CLIP-seq
MIRT2046835	hsa-miR-510	CLIP-seq
MIRT2046836	hsa-miR-512-5p	CLIP-seq
MIRT2454547	hsa-miR-548c-3p	CLIP-seq
MIRT2046837	hsa-miR-550a	CLIP-seq
MIRT1163072	hsa-miR-658	CLIP-seq
MIRT1163019	hsa-miR-1827	CLIP-seq
MIRT2046810	hsa-miR-2964a-3p	CLIP-seq
MIRT2046811	hsa-miR-302f	CLIP-seq
MIRT2046812	hsa-miR-3192	CLIP-seq
MIRT2046815	hsa-miR-3664-3p	CLIP-seq
MIRT1163035	hsa-miR-3689a-3p	CLIP-seq
MIRT1163036	hsa-miR-3689c	CLIP-seq
MIRT1163045	hsa-miR-3929	CLIP-seq
MIRT1163048	hsa-miR-4419b	CLIP-seq
MIRT1163049	hsa-miR-4433	CLIP-seq
MIRT1163051	hsa-miR-4478	CLIP-seq
MIRT1163054	hsa-miR-4649-3p	CLIP-seq
MIRT2046831	hsa-miR-4695-5p	CLIP-seq
MIRT1163058	hsa-miR-4728-5p	CLIP-seq
MIRT1163064	hsa-miR-485-5p	CLIP-seq
MIRT2046833	hsa-miR-490-3p	CLIP-seq
MIRT2046835	hsa-miR-510	CLIP-seq
MIRT2046836	hsa-miR-512-5p	CLIP-seq
MIRT2046837	hsa-miR-550a	CLIP-seq
MIRT1163015	hsa-miR-103b	CLIP-seq
MIRT1163016	hsa-miR-1236	CLIP-seq
MIRT2574831	hsa-miR-128	CLIP-seq
MIRT1163019	hsa-miR-1827	CLIP-seq
MIRT2574832	hsa-miR-1972	CLIP-seq
MIRT1163020	hsa-miR-198	CLIP-seq
MIRT1163021	hsa-miR-2114	CLIP-seq
MIRT2454543	hsa-miR-22	CLIP-seq
MIRT2574833	hsa-miR-24	CLIP-seq
MIRT2046810	hsa-miR-2964a-3p	CLIP-seq
MIRT2046811	hsa-miR-302f	CLIP-seq
MIRT1163023	hsa-miR-3122	CLIP-seq
MIRT1163024	hsa-miR-3160-3p	CLIP-seq
MIRT1163025	hsa-miR-3165	CLIP-seq
MIRT2046812	hsa-miR-3192	CLIP-seq
MIRT1163026	hsa-miR-3607-3p	CLIP-seq
MIRT2574834	hsa-miR-3609	CLIP-seq
MIRT2454544	hsa-miR-3613-3p	CLIP-seq
MIRT2574835	hsa-miR-3622a-5p	CLIP-seq
MIRT1163027	hsa-miR-365	CLIP-seq
MIRT1163028	hsa-miR-3650	CLIP-seq
MIRT1163029	hsa-miR-3656	CLIP-seq
MIRT2046815	hsa-miR-3664-3p	CLIP-seq
MIRT1163031	hsa-miR-3667-5p	CLIP-seq
MIRT1163033	hsa-miR-3675-3p	CLIP-seq
MIRT1163034	hsa-miR-3686	CLIP-seq
MIRT1163035	hsa-miR-3689a-3p	CLIP-seq
MIRT1163036	hsa-miR-3689c	CLIP-seq
MIRT1163037	hsa-miR-3689d	CLIP-seq
MIRT1163038	hsa-miR-369-3p	CLIP-seq
MIRT2574836	hsa-miR-371-5p	CLIP-seq
MIRT2574837	hsa-miR-371b-5p	CLIP-seq
MIRT1163041	hsa-miR-374a	CLIP-seq
MIRT1163042	hsa-miR-374b	CLIP-seq
MIRT1163044	hsa-miR-3913-5p	CLIP-seq
MIRT1163045	hsa-miR-3929	CLIP-seq
MIRT2574838	hsa-miR-3978	CLIP-seq
MIRT2574839	hsa-miR-4269	CLIP-seq
MIRT2574840	hsa-miR-4284	CLIP-seq
MIRT2574841	hsa-miR-4316	CLIP-seq
MIRT1163047	hsa-miR-4327	CLIP-seq
MIRT1163048	hsa-miR-4419b	CLIP-seq
MIRT2574842	hsa-miR-4432	CLIP-seq
MIRT1163049	hsa-miR-4433	CLIP-seq
MIRT1163051	hsa-miR-4478	CLIP-seq
MIRT1163052	hsa-miR-4487	CLIP-seq
MIRT2574843	hsa-miR-4519	CLIP-seq
MIRT2454545	hsa-miR-4520a-5p	CLIP-seq
MIRT2454546	hsa-miR-4520b-5p	CLIP-seq
MIRT1163053	hsa-miR-4633-3p	CLIP-seq
MIRT2046826	hsa-miR-4645-5p	CLIP-seq
MIRT1163054	hsa-miR-4649-3p	CLIP-seq
MIRT2046828	hsa-miR-4673	CLIP-seq
MIRT1163055	hsa-miR-4683	CLIP-seq
MIRT2046830	hsa-miR-4684-5p	CLIP-seq
MIRT2046831	hsa-miR-4695-5p	CLIP-seq
MIRT2574844	hsa-miR-4699-5p	CLIP-seq
MIRT2574845	hsa-miR-4709-3p	CLIP-seq
MIRT1163058	hsa-miR-4728-5p	CLIP-seq
MIRT1163060	hsa-miR-4753-3p	CLIP-seq
MIRT2046832	hsa-miR-4755-3p	CLIP-seq
MIRT1163061	hsa-miR-4778-3p	CLIP-seq
MIRT1163062	hsa-miR-4790-3p	CLIP-seq
MIRT2574846	hsa-miR-4796-3p	CLIP-seq
MIRT1163064	hsa-miR-485-5p	CLIP-seq
MIRT1163065	hsa-miR-488	CLIP-seq
MIRT2046833	hsa-miR-490-3p	CLIP-seq
MIRT2046835	hsa-miR-510	CLIP-seq
MIRT2046836	hsa-miR-512-5p	CLIP-seq
MIRT2574847	hsa-miR-548ac	CLIP-seq
MIRT2574848	hsa-miR-548ae	CLIP-seq
MIRT2574849	hsa-miR-548ah	CLIP-seq
MIRT2574850	hsa-miR-548aj	CLIP-seq
MIRT2574851	hsa-miR-548am	CLIP-seq
MIRT2454547	hsa-miR-548c-3p	CLIP-seq
MIRT2574852	hsa-miR-548d-3p	CLIP-seq
MIRT2574853	hsa-miR-548t	CLIP-seq
MIRT2574854	hsa-miR-548x	CLIP-seq
MIRT2574855	hsa-miR-548z	CLIP-seq
MIRT2046837	hsa-miR-550a	CLIP-seq
MIRT1163071	hsa-miR-558	CLIP-seq
MIRT2574856	hsa-miR-564	CLIP-seq
MIRT1163072	hsa-miR-658	CLIP-seq
MIRT1163076	hsa-miR-942	CLIP-seq
MIRT1163015	hsa-miR-103b	CLIP-seq
MIRT1163016	hsa-miR-1236	CLIP-seq
MIRT2574831	hsa-miR-128	CLIP-seq
MIRT1163019	hsa-miR-1827	CLIP-seq
MIRT2574832	hsa-miR-1972	CLIP-seq
MIRT1163020	hsa-miR-198	CLIP-seq
MIRT2454543	hsa-miR-22	CLIP-seq
MIRT2046810	hsa-miR-2964a-3p	CLIP-seq
MIRT2046811	hsa-miR-302f	CLIP-seq
MIRT1163023	hsa-miR-3122	CLIP-seq
MIRT1163024	hsa-miR-3160-3p	CLIP-seq
MIRT1163025	hsa-miR-3165	CLIP-seq
MIRT2046812	hsa-miR-3192	CLIP-seq
MIRT1163026	hsa-miR-3607-3p	CLIP-seq
MIRT2574834	hsa-miR-3609	CLIP-seq
MIRT2454544	hsa-miR-3613-3p	CLIP-seq
MIRT2574835	hsa-miR-3622a-5p	CLIP-seq
MIRT1163027	hsa-miR-365	CLIP-seq
MIRT1163028	hsa-miR-3650	CLIP-seq
MIRT1163029	hsa-miR-3656	CLIP-seq
MIRT2046815	hsa-miR-3664-3p	CLIP-seq
MIRT1163033	hsa-miR-3675-3p	CLIP-seq
MIRT1163034	hsa-miR-3686	CLIP-seq
MIRT1163035	hsa-miR-3689a-3p	CLIP-seq
MIRT1163036	hsa-miR-3689c	CLIP-seq
MIRT1163037	hsa-miR-3689d	CLIP-seq
MIRT1163038	hsa-miR-369-3p	CLIP-seq
MIRT2574836	hsa-miR-371-5p	CLIP-seq
MIRT2574837	hsa-miR-371b-5p	CLIP-seq
MIRT1163041	hsa-miR-374a	CLIP-seq
MIRT1163042	hsa-miR-374b	CLIP-seq
MIRT1163044	hsa-miR-3913-5p	CLIP-seq
MIRT1163045	hsa-miR-3929	CLIP-seq
MIRT2574838	hsa-miR-3978	CLIP-seq
MIRT2574839	hsa-miR-4269	CLIP-seq
MIRT2574841	hsa-miR-4316	CLIP-seq
MIRT1163048	hsa-miR-4419b	CLIP-seq
MIRT2574842	hsa-miR-4432	CLIP-seq
MIRT1163049	hsa-miR-4433	CLIP-seq
MIRT1163051	hsa-miR-4478	CLIP-seq
MIRT1163052	hsa-miR-4487	CLIP-seq
MIRT2574843	hsa-miR-4519	CLIP-seq
MIRT2454545	hsa-miR-4520a-5p	CLIP-seq
MIRT2454546	hsa-miR-4520b-5p	CLIP-seq
MIRT2046826	hsa-miR-4645-5p	CLIP-seq
MIRT1163054	hsa-miR-4649-3p	CLIP-seq
MIRT2046828	hsa-miR-4673	CLIP-seq
MIRT1163055	hsa-miR-4683	CLIP-seq
MIRT2046830	hsa-miR-4684-5p	CLIP-seq
MIRT2046831	hsa-miR-4695-5p	CLIP-seq
MIRT2574844	hsa-miR-4699-5p	CLIP-seq
MIRT2574845	hsa-miR-4709-3p	CLIP-seq
MIRT1163058	hsa-miR-4728-5p	CLIP-seq
MIRT1163060	hsa-miR-4753-3p	CLIP-seq
MIRT2046832	hsa-miR-4755-3p	CLIP-seq
MIRT1163061	hsa-miR-4778-3p	CLIP-seq
MIRT1163062	hsa-miR-4790-3p	CLIP-seq
MIRT2275931	hsa-miR-4793-5p	CLIP-seq
MIRT2275932	hsa-miR-4794	CLIP-seq
MIRT2574846	hsa-miR-4796-3p	CLIP-seq
MIRT1163064	hsa-miR-485-5p	CLIP-seq
MIRT1163065	hsa-miR-488	CLIP-seq
MIRT2046833	hsa-miR-490-3p	CLIP-seq
MIRT2046835	hsa-miR-510	CLIP-seq
MIRT2046836	hsa-miR-512-5p	CLIP-seq
MIRT2275934	hsa-miR-541	CLIP-seq
MIRT2574847	hsa-miR-548ac	CLIP-seq
MIRT2574848	hsa-miR-548ae	CLIP-seq
MIRT2574849	hsa-miR-548ah	CLIP-seq
MIRT2574850	hsa-miR-548aj	CLIP-seq
MIRT2574851	hsa-miR-548am	CLIP-seq
MIRT2454547	hsa-miR-548c-3p	CLIP-seq
MIRT2574852	hsa-miR-548d-3p	CLIP-seq
MIRT2574853	hsa-miR-548t	CLIP-seq
MIRT2574854	hsa-miR-548x	CLIP-seq
MIRT2574855	hsa-miR-548z	CLIP-seq
MIRT2046837	hsa-miR-550a	CLIP-seq
MIRT1163071	hsa-miR-558	CLIP-seq
MIRT2574856	hsa-miR-564	CLIP-seq
MIRT2275936	hsa-miR-654-5p	CLIP-seq
MIRT1163072	hsa-miR-658	CLIP-seq
MIRT1163076	hsa-miR-942	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004479	Function	Methionyl-tRNA formyltransferase activity	IBA	21873635
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0006413	Process	Translational initiation	IEA
GO:0071951	Process	Conversion of methionyl-tRNA to N-formyl-methionyl-tRNA	IBA	21873635

Other IDs

• MIM: 611766
• HGNC: 29666
• e!Ensembl: ENSG00000103707

Protein

• UniProt ID: Q96DP5
• Protein name: Methionyl-tRNA formyltransferase, mitochondrial (MtFMT) (EC 2.1.2.9)
• Protein function: Methionyl-tRNA formyltransferase that formylates methionyl-tRNA in mitochondria and is crucial for translation initiation.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00551	Formyl_trans_N	97 → 220	Formyl transferase	Domain
  PF02911	Formyl_trans_C	243 → 350	Formyl transferase, C-terminal domain	Domain

• Sequence:

  MRVLVRRCWGPPLAHGARRGRPSPQWRALARLGWEDCRDSRVREKPPWRVLFFGTDQFAR
  EALRALHAARENKEEELIDKLEVVTMPSPSPKGLPVKQYAVQSQLPVYEWPDVGSGEYDV
  GVVASFGRLLNEALILKFPYGILNVHPSCLPRWRGPAPVIHTVLHGDTVTGVTIMQIRPK
  RFDVGPILKQETVPVPPKSTAKELEAVLSRLGANMLISVLKNLPESLSNGRQQPMEGATY
  APKISAGTSCIKWEEQTSEQIFRLYRAIGNIIPLQTLWMANTIKLLDLVEVNSSVLADPK
  LTGQALIPGSVIYHKQSQILLVYCKDGWIGVRSVMLKKSLTATDFYNGYLHPWYQKNSQA
  QPSQCRFQTLRLPTKKKQKKTVAMQQCIE

• Sequence length: 389

Pathways

KEGG:

Aminoacyl-tRNA biosynthesis
Metabolic pathways

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019	24461907, 21907147
Cerebellar ataxia	Progressive cerebellar ataxia	rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
Combined oxidative phosphorylation deficiency	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, Combined oxidative phosphorylation defect type 15	rs587776508, rs576462794, rs118203917, rs387906327, rs139430866, rs387906962, rs138119149, rs387907061, rs1562800908, rs397515421, rs397514598, rs397514610, rs397514611, rs397514612, rs201431517, rs397514613, rs397514614, rs200286768, rs397515463, rs397515464, rs397515465, rs397515466, rs587777218, rs587777244, rs587777417, rs587777418, rs587777419, rs587777583, rs587777584, rs587777585, rs587777589, rs587777591, rs587777593, rs587777594, rs115079861, rs587777788, rs144972972, rs606231472, rs869320746, rs886037734, rs730880255, rs886037735, rs886037736, rs730882154, rs730882155, rs794726869, rs114638163, rs143712760, rs780383722, rs200105202, rs1554169353, rs751459058, rs775690041, rs863224897, rs863225449, rs869025313, rs869025314, rs869025315, rs781798317, rs754022333, rs869320703, rs869320704, rs771894262, rs764427452, rs879255657, rs778100619, rs759477396, rs1057518742, rs1057518743, rs1057517685, rs1057519299, rs1057523346, rs1057524183, rs1060502161, rs184469579, rs1064794140, rs755122704, rs1064797230, rs202183509, rs1131691396, rs1131692037, rs1161932777, rs144042123, rs777725264, rs563189672, rs763672163, rs746538436, rs1554042187, rs767427194, rs1555532483, rs1394499137, rs1555532484, rs763658299, rs763770476, rs199863563, rs148620369, rs1554147776, rs761385155, rs1555575927, rs1555576642, rs1554169280, rs1407198979, rs1274363168, rs1555726849, rs770871640, rs1555404423, rs924099073, rs775439829, rs1554268077, rs1308121771, rs1047420796, rs1322974029, rs751069628, rs368934219, rs761709212, rs1555342802, rs761334309, rs1554116357, rs536000212, rs565910322, rs376766195, rs1562168768, rs763443331, rs1370579526, rs755068980, rs1567773277, rs761097220, rs780533096, rs746356243, rs1559114055, rs752550279, rs1559094461, rs146988468, rs1561990552, rs1298860043, rs746746116, rs1568293849, rs1559359546, rs1561938413, rs565224393, rs1565216037, rs1035101172, rs1565235204, rs763770414, rs764714439, rs777185638, rs1169927428, rs1229314240, rs1429774361, rs374954001, rs1599560256, rs1582724664, rs1574663066, rs778120270, rs1574675683, rs1365308037, rs1582970514, rs777028011, rs1582957532, rs1170907347, rs773688171, rs1777047446, rs947204455, rs1049082567, rs754537066, rs758094541, rs1689552727, rs2077262520, rs748779965, rs1785349774	21907147, 24461907, 27564080, 22499348, 26633545, 25288793, 23499752, 24123792
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377, rs2856655, rs587776700, rs387906397, rs104894204, rs121434470, rs104894828, rs121964855, rs121964856, rs121964858, rs74315380, rs104894724, rs104894725, rs104894727, rs104894728, rs104894729, rs104894730, rs267607127, rs2147283135, rs267607128, rs267607125, rs104894502, rs104894503, rs104894504, rs28933405, rs111033560, rs121434594, rs80338797, rs104893748, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs121913633, rs121913634, rs3218714, rs121913636, rs121913637, rs121913638, rs121913639, rs121913641, rs121913642, rs121913643, rs121913647, rs121913650, rs121913651, rs36211715, rs121913654, rs267606911, rs267606908, rs730880850, rs121912675, rs267606629, rs193922680, rs1600482909, rs387906898, rs199476398, rs387907079, rs199474815, rs199474703, rs199476305, rs199476306, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922649, rs36211723, rs187830361, rs193922383, rs193922386, rs193922390, rs193922697, rs387907267, rs397507520, rs727505017, rs397515888, rs397515889, rs397515891, rs397515893, rs397515894, rs397515895, rs397515896, rs397515897, rs397515903, rs397515905, rs375882485, rs397515907, rs397515910, rs397515912, rs397515916, rs397515920, rs397515925, rs397515926, rs397515931, rs397515933, rs397515934, rs397515935, rs397515937, rs397515942, rs397515943, rs397515944, rs397515947, rs397515948, rs397515952, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515965, rs397515966, rs397515970, rs397515972, rs397515973, rs397515974, rs397515975, rs397515977, rs376395543, rs397515979, rs397515982, rs397515987, rs397515990, rs397515991, rs397515992, rs397515995, rs397515997, rs397516001, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs397516010, rs397516013, rs397516014, rs373746463, rs397516019, rs397516020, rs397516022, rs397516023, rs397516029, rs397516031, rs397516032, rs397516035, rs397516037, rs397516038, rs397516040, rs397516042, rs397516044, rs397516047, rs397516049, rs397516052, rs397516056, rs397516057, rs397516058, rs397516059, rs397516061, rs397516067, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs201078659, rs397516082, rs397516083, rs1555122751, rs397516088, rs397516089, rs397516095, rs397516098, rs397516101, rs397516103, rs397516110, rs397516127, rs371898076, rs397516132, rs397516134, rs397516142, rs3218716, rs397516153, rs397516154, rs397516155, rs397516156, rs397516157, rs397516160, rs397516161, rs397516165, rs397516166, rs397516170, rs397516171, rs397516172, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516238, rs397516248, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516266, rs397516269, rs397516340, rs397516347, rs121917760, rs397516349, rs397516353, rs397516354, rs397516355, rs397516357, rs397516373, rs397516406, rs397516455, rs397516456, rs397516457, rs397516463, rs397516464, rs45525839, rs397516470, rs397516471, rs45578238, rs111377893, rs397516736, rs397516738, rs397516739, rs397516751, rs397516752, rs397516784, rs397517283, rs397514752, rs143697995, rs267607490, rs199472948, rs138193236, rs398123279, rs869320740, rs606231340, rs606231324, rs587779392, rs587779393, rs587782951, rs587782957, rs587782958, rs587782962, rs587782965, rs138049878, rs376897125, rs368765949, rs727504247, rs376923877, rs727504277, rs727504255, rs727504246, rs727504331, rs727503513, rs727504392, rs397516039, rs727504271, rs727504321, rs727504289, rs727504305, rs727503172, rs573821685, rs727503176, rs727503178, rs727504423, rs727503180, rs727504333, rs727503182, rs727504265, rs727503184, rs727503186, rs727503187, rs727504252, rs727504864, rs727504334, rs727503192, rs397515932, rs727504366, rs727504248, rs727504287, rs200411226, rs727503204, rs727504329, rs727504269, rs573916965, rs367947846, rs727503210, rs730880335, rs727503166, rs727504390, rs730880361, rs727504276, rs111683277, rs727503174, rs727503175, rs727504349, rs727504314, rs727504371, rs730880341, rs727504293, rs727503195, rs111437311, rs727503202, rs727503203, rs727504279, rs727505152, rs727503209, rs727503211, rs727503212, rs727503217, rs727503219, rs730880366, rs727503220, rs727504356, rs727504311, rs727503261, rs727503264, rs727504238, rs148808089, rs727503271, rs727504409, rs727503276, rs727504283, rs727503296, rs45544633, rs727503246, rs727503252, rs727503253, rs202141173, rs2754158, rs727504310, rs727503260, rs727504272, rs727504240, rs727503263, rs727504239, rs727504925, rs727504237, rs727504236, rs727505202, rs727504267, rs727503278, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504264, rs727504275, rs727503500, rs727503503, rs727503120, rs730880336, rs730880337, rs730880362, rs730880210, rs730880143, rs730880159, rs730881116, rs730881122, rs730880162, rs730880605, rs730880604, rs730880600, rs730880702, rs730880598, rs730880597, rs730880699, rs730880592, rs730880675, rs730880720, rs730880719, rs730880672, rs730880668, rs730880718, rs730880666, rs730880586, rs730880584, rs11570112, rs730880578, rs730880576, rs730880660, rs730880657, rs730880655, rs730880654, rs730880653, rs730880652, rs730880714, rs730880651, rs730880558, rs730880649, rs730880647, rs730880713, rs730880646, rs730880546, rs727503197, rs730880695, rs730880644, rs730880640, rs730880712, rs730880544, rs730880542, rs730880541, rs730880538, rs730880533, rs730880531, rs730880641, rs730880639, rs397515890, rs730880724, rs730880635, rs730880723, rs730880686, rs730880631, rs730880678, rs730880629, rs730880684, rs368121566, rs730880621, rs730880681, rs375607980, rs730880618, rs730880680, rs730880679, rs730880677, rs730880704, rs730880703, rs730880721, rs730880698, rs730880664, rs730880663, rs730880662, rs730880659, rs730880916, rs727504558, rs730880759, rs730880756, rs730880750, rs730880749, rs730880748, rs730880736, rs727504241, rs727504299, rs730880732, rs730880883, rs730880930, rs730880929, rs730880875, rs370310929, rs730880926, rs730880864, rs730880856, rs397516268, rs730880922, rs730880845, rs730880388, rs730881091, rs786204352, rs786204339, rs786204338, rs786204336, rs786204329, rs2069544, rs281865416, rs773317399, rs121913648, rs730880809, rs863224483, rs863224899, rs863224900, rs863225120, rs863225121, rs863225107, rs863225114, rs863225113, rs863225104, rs863225105, rs863225112, rs863225106, rs863225109, rs863225111, rs863225100, rs863225103, rs863225102, rs863225097, rs863225101, rs730880876, rs863225272, rs863225271, rs190228518, rs863225269, rs761507504, rs864622224, rs1057515421, rs869025470, rs869025469, rs869025461, rs869025468, rs869025460, rs869025467, rs869025466, rs869025465, rs869025464, rs869025463, rs869025459, rs869025462, rs727503512, rs876657706, rs876657705, rs876657703, rs876657702, rs727503213, rs876657884, rs878854428, rs878853831, rs878853842, rs1562999443, rs1563003848, rs1562991002, rs879255639, rs886037900, rs886037902, rs886037901, rs886038822, rs886039030, rs886039185, rs754664923, rs141019458, rs1057517766, rs1057517767, rs779650200, rs1057518030, rs1057517711, rs1057519503, rs1057520814, rs1060499673, rs1060501480, rs1060501484, rs1060501481, rs1060501478, rs1064792936, rs1060501475, rs1060501479, rs1064792935, rs1060501436, rs1060501448, rs1060501443, rs1060501452, rs1060505018, rs1060499604, rs781135153, rs1064796231, rs1064793202, rs977277400, rs1064793429, rs771929829, rs745811346, rs1114167419, rs1114167361, rs1555409659, rs1555123389, rs1131691514, rs1131692185, rs1131692058, rs1553279294, rs1555120920, rs1555121924, rs1555338319, rs1555120300, rs1555121488, rs373792537, rs1444727212, rs1555338462, rs1555120937, rs1555123629, rs794727046, rs1555123633, rs1555121172, rs1555123438, rs1555336467, rs1555338658, rs1213930919, rs1432810664, rs1555122188, rs764743402, rs974671846, rs1420159591, rs745688425, rs1555338080, rs200889953, rs1555120258, rs1298025872, rs767039057, rs1555120529, rs1555121247, rs774521272, rs1555122156, rs1555123473, rs1555123496, rs1555123597, rs1555337701, rs2856897, rs869312381, rs1555122928, rs1555123743, rs1554401581, rs1555120651, rs868819340, rs1555122053, rs730880742, rs758891557, rs1555337794, rs1555338378, rs1555338758, rs1245885836, rs1566530698, rs1566513862, rs1565629792, rs730880751, rs727504294, rs1563001548, rs1565622952, rs1565625473, rs1565626409, rs1565627536, rs1565628062, rs1565628486, rs1565631430, rs1391622163, rs1131691685, rs749007293, rs1566535491, rs1565624090, rs1565625777, rs1565631428, rs1568858210, rs1566537070, rs1565627566, rs1567864804, rs1563161306, rs1565622703, rs190765116, rs1595843598, rs1565625795, rs1565628078, rs774316050, rs1565631381, rs1565631424, rs1566531421, rs730880872, rs730880870, rs1566536418, rs1566536436, rs1565623216, rs1265248322, rs113276889, rs1562998062, rs1419032418, rs1565627615, rs1565624196, rs1595843640, rs1595846398, rs764950910, rs1600448065, rs1600462474, rs1417887060, rs1600477808, rs1600480573, rs1050997719, rs1420394583, rs1595840648, rs1595841063, rs1595843549, rs1595843758, rs1595845565, rs1595845888, rs1595846344, rs1595846475, rs1595849931, rs1595070747, rs1246272841, rs730880741, rs1173617248, rs1595085409, rs730880879, rs1299079662, rs1595848628, rs1595849603, rs1450218521, rs1571627587, rs1603037717, rs1603038411, rs1595850762, rs777702465, rs1595841736, rs1595842238, rs1595845204, rs1025692267, rs1595070689, rs1198682781, rs2095879705, rs201911056, rs727504425, rs141414377, rs1596303148, rs1595841206, rs1595844714, rs1595842632, rs1595843828, rs113709679, rs1595841552, rs1595849742, rs754529157, rs1709195189, rs1342121466, rs2095880935, rs2095883508, rs2095884984, rs2095889902, rs2095891411, rs2095898532, rs780625785, rs1892592854, rs1892948780, rs2095879167, rs1956121988, rs2095893477, rs2095894178, rs1801002279, rs1892956157
Mental retardation	Severe 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
Leigh syndrome	Leigh Disease	rs267606829, rs137852863, rs121908577, rs1445075330, rs121908985, rs104893898, rs28939679, rs104894705, rs1568985256, rs199476144, rs199474672, rs118192098, rs118192100, rs199476133, rs199476135, rs199476138, rs267606614, rs207459999, rs199476104, rs199476105, rs199476107, rs199476109, rs267606893, rs267606897, rs28384199, rs267606890, rs199476117, rs267606891, rs267606889, rs199476118, rs199476123, rs121918657, rs28933402, rs782316919, rs121913659, rs768050261, rs121913660, rs121913661, rs201431517, rs1556423632, rs587776949, rs201889294, rs398123061, rs398124308, rs587776434, rs587776438, rs587776440, rs1556423547, rs587776497, rs587776498, rs797045055, rs375169579, rs782490558, rs782190413, rs863224228, rs863224229, rs757486575, rs750831299, rs863224926, rs864309500, rs761389904, rs147816470, rs150613320, rs782623477, rs782007828, rs782349178, rs1057517942, rs199683937, rs1057521059, rs1057520688, rs781948238, rs782024654, rs782289759, rs1131692037, rs1161932777, rs1242159511, rs773850151, rs1553997617, rs1554768246, rs1410388157, rs1554059248, rs1554062427, rs1267554976, rs1391748504, rs376281345, rs772294726, rs1554768333, rs149718203, rs536758576, rs1555066709, rs1053850536, rs1564349176, rs782061187, rs762620949, rs1219762677, rs761097220, rs747359752, rs782609482, rs1229474296, rs782682492, rs1564349087, rs1588688823, rs1588691786, rs1603222000, rs1603223363, rs1603224017, rs1603220522, rs1603221804, rs1603222011, rs1603222119, rs1574663066, rs778120270, rs1574675683, rs1559047521, rs747249702, rs1244071473, rs1588693841, rs746519257, rs1591111808, rs766830864, rs1363125797, rs1836430953	24461907, 21907147
Leukodystrophy	Leukodystrophy	rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604, rs1382083552, rs1576101665, rs1576080546, rs1576074651, rs1367958450, rs932183417
Mitochondrial complex deficiency	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27	rs267606829, rs267606830, rs587776513, rs121918134, rs121918135, rs121918136, rs137853192, rs137853193, rs183973249, rs137853184, rs118203929, rs267606689, rs11544803, rs63751061, rs137852863, rs1554076324, rs104894554, rs1561102614, rs267606913, rs28939714, rs104894270, rs121908571, rs121908572, rs121908573, rs28937590, rs121908575, rs121908576, rs121908577, rs121908578, rs121908579, rs121908580, rs144885874, rs587776629, rs104894630, rs121434428, rs121434429, rs1445075330, rs121908985, rs104893898, rs104893899, rs28939679, rs121912639, rs1168752295, rs104894560, rs104894555, rs104894556, rs104894557, rs387906383, rs104894705, rs121434479, rs1568985256, rs9809219, rs137852767, rs1061517, rs137852768, rs28384199, rs267606890, rs267606888, rs104894884, rs104894885, rs121913659, rs768050261, rs121913660, rs121913661, rs397515383, rs199422224, rs199592341, rs387906872, rs387906873, rs387906929, rs387906956, rs368949613, rs115532916, rs377022708, rs1586636643, rs387907070, rs387907087, rs747166010, rs387907094, rs587776904, rs387907139, rs387907199, rs397514617, rs397514618, rs587776949, rs374661051, rs879255565, rs751631278, rs552722349, rs397515447, rs372691318, rs587777004, rs776388520, rs587777041, rs587777042, rs398124308, rs794726691, rs794726692, rs587777220, rs752513525, rs587777410, rs587777433, rs142441643, rs587777784, rs587777785, rs587777787, rs606231426, rs786205436, rs765093638, rs796052056, rs201430951, rs370009373, rs377025174, rs747956412, rs757982865, rs768720209, rs757486575, rs750831299, rs863224123, rs576780935, rs863224844, rs753711253, rs149753643, rs150283105, rs869025602, rs869025603, rs869025604, rs869025605, rs531254130, rs761389904, rs876658477, rs886037835, rs141542003, rs746165168, rs878854628, rs142609245, rs573006534, rs886037857, rs150613320, rs766454175, rs752670374, rs768768823, rs749196764, rs1057516255, rs1057519073, rs1057519414, rs1057519415, rs757043077, rs768273248, rs1057519084, rs1057519085, rs1057519086, rs199683937, rs776838028, rs367956888, rs1057521059, rs199754807, rs777501387, rs150966634, rs770131276, rs1555834773, rs1085307492, rs1131691065, rs781525096, rs370411488, rs1135402749, rs151279101, rs1555338209, rs1555695342, rs1555530551, rs1555703272, rs749110767, rs1348957889, rs867410737, rs1569463838, rs758833609, rs750830935, rs1023075742, rs1554599411, rs1555745989, rs376281345, rs772294726, rs1554076306, rs1554076309, rs536758576, rs765915512, rs1555066709, rs567437692, rs1239013578, rs1554843251, rs1554843434, rs781099275, rs763006208, rs747359752, rs3210083, rs1568344751, rs1242465339, rs1568346416, rs1485032272, rs750971390, rs767543623, rs1597176845, rs138275059, rs1171276645, rs1318084629, rs1598367619, rs1598368033, rs745332456, rs778516878, rs1603223730, rs146599698, rs1321888585, rs1579936916, rs1411237396, rs1591111808, rs1592704794, rs1600305570, rs1411381518, rs1426201422, rs759254294, rs1906247824, rs770749420, rs766026673, rs1475753965, rs1970827483	24461907, 23499752, 22499348
Mitochondrial encephalomyopathy	Mitochondrial Encephalomyopathies	rs121434462, rs199474661, rs121434456, rs207459999, rs387906731, rs387906736	24461907, 21907147
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Retinitis pigmentosa	Retinitis Pigmentosa	rs267606794, rs200691042, rs397704718, rs202193201, rs267606793, rs2147483647, rs779886453, rs267606691, rs794728002, rs878853253, rs137853189, rs137853190, rs137853112, rs137853113, rs137853114, rs483352894, rs121908282, rs549625604, rs137852832, rs1587620953, rs104893680, rs587777805, rs386834261, rs104894474, rs104894475, rs28940315, rs387906272, rs202126574, rs267607017, rs80338903, rs397518008, rs111033367, rs121912599, rs80338902, rs111033364, rs111033272, rs121912600, rs587776538, rs111033334, rs80338904, rs121909398, rs119103286, rs587777809, rs121434241, rs121434242, rs121434243, rs121434236, rs121434238, rs121434239, rs121434240, rs267607034, rs267606874, rs267606876, rs267606875, rs1555468634, rs28940869, rs193919337, rs587776589, rs119475042, rs587776590, rs119475043, rs1600344451, rs1600337143, rs587776591, rs121908140, rs1085307049, rs111033258, rs121908142, rs111033267, rs137852959, rs121908175, rs121908178, rs121908179, rs138043021, rs397515359, rs397515360, rs730880273, rs119489105, rs371956016, rs1600169350, rs104894492, rs104894493, rs28937873, rs121912631, rs1567160967, rs886037612, rs137853005, rs62635656, rs62635655, rs62635654, rs28939720, rs137853137, rs62636291, rs62636275, rs281865175, rs104894082, rs869320726, rs869320727, rs104894083, rs869320728, rs121909073, rs121909074, rs121909075, rs121909076, rs1581734819, rs1581742970, rs104894672, rs104894178, rs201578674, rs61751386, rs267607077, rs121918532, rs1567360969, rs137852696, rs104893967, rs61750173, rs118203888, rs62638644, rs62638651, rs62642057, rs62638634, rs62638637, rs137852549, rs606231180, rs606231181, rs62638646, rs2147248070, rs137852550, rs137852284, rs104894925, rs28933687, rs104894926, rs2147081376, rs104894927, rs35689081, rs113624356, rs121917777, rs104893768, rs29001566, rs29001637, rs28933394, rs104893769, rs104893771, rs104893772, rs104893773, rs104893779, rs104893774, rs104893776, rs104893777, rs28933993, rs104893775, rs104893778, rs29001653, rs104893780, rs104893781, rs104893787, rs28933395, rs104893786, rs104893782, rs104893791, rs104893792, rs104893788, rs104893793, rs104893794, rs121918590, rs104893795, rs104893797, rs137853290, rs766278489, rs28933990, rs137853291, rs1598717056, rs121918579, rs121918580, rs730880317, rs121918581, rs1553801591, rs121918583, rs121918576, rs121918577, rs121918578, rs61752895, rs61752871, rs62637004, rs121917744, rs61752909, rs121917745, rs61755777, rs61755806, rs121918563, rs61755793, rs61755792, rs61755816, rs61755786, rs61755771, rs61755794, rs61755783, rs104894459, rs763191889, rs121912550, rs121912552, rs121909599, rs121909600, rs62625014, rs104893736, rs781781440, rs779514800, rs387906646, rs387906648, rs62653011, rs121909835, rs869320618, rs61751399, rs775098953, rs374390376, rs387906971, rs1911001854, rs147394623, rs786200928, rs1064792852, rs387907136, rs387907137, rs387907192, rs376586707, rs201188361, rs387907268, rs747425652, rs1573554264, rs387907314, rs199476194, rs62645748, rs397514574, rs397514575, rs374963432, rs397517964, rs369522997, rs111033379, rs111033264, rs202175091, rs111033265, rs111033418, rs397517973, rs397517974, rs397517976, rs397517977, rs397517978, rs151148854, rs111033518, rs397517983, rs397517984, rs111033385, rs111033417, rs397517988, rs397517989, rs397517990, rs397517994, rs111033273, rs397518003, rs397518010, rs397518011, rs397518013, rs397518014, rs397518018, rs375668376, rs397518021, rs397518022, rs397518023, rs111033386, rs111033268, rs397518029, rs111033280, rs397518036, rs397518039, rs397518041, rs397518043, rs397518046, rs41308425, rs397518048, rs73090721, rs111033263, rs146150511, rs387907367, rs386833717, rs386834012, rs386834019, rs386834024, rs386834152, rs398122391, rs879255568, rs398122960, rs398122961, rs398122962, rs398122963, rs398122964, rs398122525, rs398123298, rs398123336, rs1800728, rs398123538, rs398123575, rs398123576, rs372504780, rs398124544, rs398124618, rs398124619, rs149614625, rs587777086, rs431905521, rs61755781, rs61755785, rs61755787, rs61755796, rs61755800, rs61755805, rs61755807, rs61755810, rs61755817, rs62645935, rs281865373, rs61748433, rs62635002, rs62653030, rs281865304, rs62638633, rs62638645, rs62640589, rs61751276, rs61751281, rs61751282, rs62637006, rs62637007, rs61752873, rs281865285, rs61752883, rs61752884, rs281865286, rs61748550, rs61748558, rs61748559, rs61751385, rs61749409, rs61749414, rs61749418, rs61752401, rs61751263, rs62654397, rs61748526, rs61751395, rs61749433, rs61752407, rs62642570, rs61749451, rs61749459, rs61750065, rs61751398, rs62645946, rs61750137, rs61754044, rs61750140, rs61751402, rs281865377, rs61751388, rs61750152, rs62642574, rs61750155, rs61750567, rs61753023, rs61750571, rs61751406, rs61753029, rs61753030, rs61751389, rs61750639, rs61753043, rs61750653, rs61750654, rs61753046, rs63749055, rs62645958, rs62645944, rs62636511, rs281865168, rs281865171, rs281865166, rs62638179, rs281865188, rs62645754, rs62636264, rs62636266, rs62636267, rs62636273, rs62635659, rs62645752, rs137853923, rs730880283, rs587777272, rs587777273, rs202210819, rs587777376, rs587777377, rs483353056, rs587777599, rs527236085, rs527236089, rs527236091, rs527236088, rs527236090, rs527236097, rs527236098, rs148460146, rs527236101, rs527236100, rs527236102, rs527236062, rs527236055, rs527236056, rs527236109, rs527236108, rs527236111, rs527236112, rs527236092, rs527236059, rs527236058, rs527236077, rs527236072, rs527236075, rs527236073, rs527236065, rs527236074, rs527236071, rs527236068, rs527236069, rs527236078, rs527236066, rs527236076, rs527236070, rs527236067, rs527236082, rs527236060, rs527236061, rs372989281, rs527236079, rs527236116, rs527236087, rs201493928, rs527236105, rs527236083, rs527236134, rs527236096, rs527236113, rs527236114, rs527236086, rs527236094, rs144738703, rs527236095, rs199867882, rs527236099, rs114342808, rs527236139, rs527236137, rs527236127, rs527236124, rs527236126, rs527236125, rs527236121, rs527236123, rs55958016, rs527236120, rs527236118, rs587783013, rs727505116, rs727503731, rs146733615, rs727504867, rs727503715, rs727505343, rs727503723, rs727503725, rs730880349, rs727505337, rs727503736, rs727504893, rs727504075, rs730882149, rs730882261, rs148412181, rs746523071, rs786204428, rs750228923, rs749909863, rs786205444, rs786205445, rs786205447, rs786205450, rs767745816, rs2723341, rs786205493, rs368098126, rs761628767, rs786205533, rs786205534, rs786205535, rs786205545, rs786205564, rs763295314, rs797044561, rs793888523, rs786205610, rs786205626, rs786205644, rs786205652, rs750542962, rs863223342, rs863223341, rs863223338, rs863223344, rs863223339, rs863223340, rs779007169, rs863223343, rs786205856, rs786205857, rs786205858, rs794726979, rs372354156, rs794727120, rs794727139, rs794727197, rs794727281, rs754012367, rs373441420, rs761238771, rs775557680, rs794727579, rs794727631, rs797044735, rs201657446, rs372347027, rs148660051, rs779791079, rs753330544, rs794727903, rs875989821, rs781192528, rs386833744, rs746174328, rs797045089, rs752683070, rs770258677, rs797045120, rs376306240, rs368049814, rs770558150, rs797045224, rs863224862, rs863224894, rs759781200, rs771214648, rs372659908, rs201541131, rs869312182, rs869312180, rs869312179, rs758052437, rs869312177, rs869312188, rs869312183, rs869312187, rs1060499536, rs749012133, rs762951570, rs760225886, rs766590491, rs876657733, rs876657731, rs397517963, rs876657730, rs876657718, rs876661403, rs775177930, rs61750138, rs768278935, rs201471607, rs61749427, rs61752398, rs765707028, rs767648174, rs368675850, rs878853407, rs878853413, rs878853410, rs878853354, rs878853353, rs750151209, rs761440783, rs199584830, rs878853350, rs878853349, rs143994166, rs878853327, rs878853328, rs760430056, rs878853394, rs868538598, rs879253768, rs879255547, rs200826424, rs368217569, rs886037911, rs886037947, rs886037948, rs886037949, rs764256655, rs751130485, rs886039450, rs886039449, rs145961131, rs886039422, rs753355844, rs748810737, rs886039867, rs886041040, rs886041502, rs748394238, rs770185023, rs753353134, rs886041773, rs886041376, rs886041178, rs758109813, rs750396156, rs886042613, rs749526785, rs886042722, rs371777049, rs115352681, rs773539640, rs886043417, rs886043587, rs201855602, rs886044304, rs770748359, rs770284500, rs141563823, rs752953889, rs762991211, rs749199721, rs1057517533, rs536593247, rs373208120, rs376894444, rs1057517844, rs374536346, rs116471343, rs865990202, rs1057517700, rs543698823, rs1057518922, rs1057518949, rs368088025, rs1057519193, rs556788423, rs1057519316, rs1057519427, rs1057519317, rs1057519341, rs1057520152, rs759898765, rs397517979, rs199840367, rs61750638, rs779466403, rs1057520213, rs766246531, rs1060499783, rs1060501181, rs987233144, rs1064793000, rs1064793001, rs767689418, rs1064793002, rs1060505042, rs748014296, rs62636260, rs1064793289, rs1064795279, rs200712760, rs1064795047, rs1064793506, rs1064793745, rs137954284, rs762150575, rs559155109, rs769671323, rs61755776, rs1064796020, rs199740930, rs1064794848, rs139842473, rs1064794342, rs1064794573, rs778884136, rs777849213, rs1555558169, rs1064797113, rs1064797133, rs1064797134, rs770011113, rs1064797215, rs4672457, rs1064797304, rs773065850, rs1064797364, rs1064797365, rs1085307446, rs1085307972, rs1085307968, rs62645747, rs753886165, rs1555962831, rs1556313552, rs140451304, rs539192853, rs749702843, rs752762669, rs1553449458, rs776788104, rs1553260517, rs145282040, rs773914330, rs757740068, rs1003869920, rs1553252388, rs762388072, rs762159022, rs1362058696, rs1553257498, rs1553257685, rs1288381992, rs1285853856, rs1388040238, rs1553263639, rs751111524, rs1553273280, rs1553274531, rs1035024403, rs746551311, rs780308389, rs1338169194, rs772808534, rs199683808, rs778234759, rs1553188588, rs1553192726, rs764759172, rs541717028, rs746238212, rs1553513437, rs569826109, rs367658438, rs1178184685, rs1553354861, rs754995805, rs770339774, rs1553681348, rs1553687058, rs1553780837, rs1553781176, rs771054395, rs201644238, rs780697796, rs745413794, rs567961453, rs781003757, rs370898371, rs1360937549, rs1553812554, rs753942596, rs144484128, rs146591309, rs773278338, rs1554338016, rs1554268546, rs1554269053, rs1554194404, rs1346842287, rs1554204963, rs1554152094, rs181169439, rs1554183432, rs1554183440, rs930421180, rs1291867456, rs1554214453, rs760798455, rs764163418, rs765129639, rs1554519533, rs1554519538, rs1554519546, rs1554519554, rs1554519555, rs1554519577, rs1554519635, rs1449723475, rs1554519651, rs769601671, rs1554520068, rs1554671407, rs756678484, rs1477733493, rs1555099048, rs1555050487, rs756632517, rs781670422, rs1555302710, rs766096417, rs377257254, rs773372123, rs756806434, rs1555488069, rs1555488573, rs760373259, rs1352458826, rs1555493707, rs750620302, rs189234741, rs752997229, rs1555801989, rs1555791188, rs1555793207, rs1555794302, rs748531024, rs1555961832, rs1555961849, rs1555961852, rs1555961964, rs1555962965, rs1555964122, rs1555964133, rs771039023, rs1555965653, rs1555965712, rs1555968526, rs1556318627, rs1556318633, rs1555468632, rs1555794509, rs1461319754, rs1555049194, rs1555468920, rs1231250334, rs1555792879, rs1555793828, rs1233480483, rs1161389116, rs1554090012, rs1554125521, rs1554417054, rs1554519822, rs1555961624, rs559371453, rs1555487977, rs1441549097, rs758052634, rs1553121073, rs758593134, rs1554289078, rs1553122926, rs764831063, rs754768875, rs374268850, rs1420628245, rs1553781140, rs1555961677, rs1555961787, rs1369414978, rs1366496013, rs774573692, rs534534437, rs769838859, rs777678022, rs753090404, rs201730567, rs199679165, rs143344549, rs777465132, rs1554163929, rs751176116, rs1553454799, rs564754426, rs1553250072, rs141672841, rs1553354826, rs201823777, rs1419157426, rs1553261478, rs1553253747, rs1309140887, rs776886395, rs1553681433, rs1553687118, rs370758397, rs1278053918, rs1555965107, rs1555474009, rs1423102192, rs1553515435, rs753994107, rs1554269081, rs769512989, rs1239043055, rs1555794205, rs1553272035, rs1555216730, rs1555550617, rs1553354522, rs748847284, rs1433546528, rs1555968248, rs1555968524, rs1556318642, rs1553263572, rs199636364, rs765476745, rs768161313, rs1553252499, rs763463859, rs1553248234, rs1553250192, rs1553252041, rs1177257719, rs1212608410, rs200871041, rs1553248216, rs757676723, rs747160949, rs764917754, rs1295968274, rs1553261898, rs1553250416, rs764182950, rs753505333, rs747063294, rs1553249294, rs1553252052, rs367674026, rs779572631, rs1553257707, rs746447649, rs1553268562, rs1553271002, rs1431048303, rs749452910, rs1553273330, rs1553274448, rs779716464, rs1553257705, rs1485173724, rs1553261372, rs1553250050, rs111033382, rs1553285919, rs1553287118, rs1553250150, rs1553299079, rs1162305984, rs199782530, rs370327669, rs944675223, rs769001387, rs199982344, rs1553313308, rs1553261479, rs988693758, rs1553313793, rs760302201, rs1553271001, rs1553313810, rs1414935620, rs749726310, rs1380261595, rs770383273, rs993185407, rs483353054, rs1553273412, rs1553273421, rs1269642027, rs1553268582, rs762608746, rs780779563, rs1553287070, rs1553294144, rs772124060, rs1553270954, rs1553259179, rs1553258122, rs775293551, rs1553272201, rs754374132, rs1553300016, rs1553274424, rs1553300558, rs772100045, rs771051185, rs1553272176, rs143521854, rs1553300340, rs745350407, rs756623509, rs764797292, rs1284826852, rs767078782, rs1342455785, rs1553320451, rs1177198729, rs372927796, rs1553250627, rs1394737087, rs768813865, rs748961218, rs771583281, rs1188025733, rs868562952, rs762384558, rs758571672, rs1553250952, rs1171672823, rs758303489, rs1553257761, rs1484339054, rs1553258097, rs1553258037, rs781223647, rs1187839124, rs767414973, rs376155416, rs1326370032, rs1427770112, rs528919874, rs764229134, rs750840208, rs752736741, rs1165454778, rs1554220416, rs751629543, rs1554171033, rs763028732, rs1168101857, rs747240928, rs1207247951, rs1555454566, rs199830550, rs192907397, rs1429137932, rs1558049084, rs1558151555, rs748983904, rs1057518826, rs1558366840, rs1212998897, rs746141070, rs1560121685, rs1560122302, rs1560134806, rs868349465, rs1562079314, rs1562109990, rs1562140604, rs1562154478, rs749410700, rs1246397238, rs1563329888, rs1563330595, rs1563983151, rs1566561006, rs1566888340, rs1566585766, rs1566945534, rs777989874, rs771551785, rs1568600184, rs1569235677, rs1569237206, rs1569238659, rs1569258901, rs767797828, rs1262416703, rs776591659, rs1557447255, rs747393487, rs140039128, rs1160669210, rs1569257917, rs745422941, rs988133284, rs766053952, rs748369458, rs1558251742, rs1559100465, rs281865520, rs776526721, rs777103184, rs1318739667, rs1471994744, rs1562481438, rs1562263385, rs778627080, rs758660532, rs41314534, rs1301139848, rs777629750, rs970990957, rs1466666397, rs779334655, rs1558146243, rs1569236971, rs1569237077, rs775957498, rs1566560531, rs1558112968, rs552517556, rs777215595, rs373203896, rs752930400, rs1569235999, rs779169631, rs1560046837, rs776727320, rs767994904, rs772057239, rs186643840, rs779983752, rs1562220891, rs1428612396, rs200862689, rs530749007, rs200248198, rs150412614, rs1360258103, rs1573592033, rs1578278438, rs1197105310, rs1582928662, rs777889289, rs1602347992, rs781705903, rs1571572235, rs1571945537, rs201238640, rs1571953381, rs1453306308, rs201863550, rs1571941465, rs1571941589, rs753908845, rs1572060087, rs771000800, rs1570382663, rs772421550, rs1572826522, rs959069360, rs1578278354, rs768210562, rs1578281136, rs766357803, rs750147338, rs1577296602, rs1581180469, rs1581190641, rs1265680220, rs976670244, rs1581312596, rs1581697849, rs753314164, rs61755811, rs748838955, rs1582221424, rs74419361, rs777482895, rs1582376609, rs1468020897, rs1585557752, rs1585563087, rs1250214380, rs1585563204, rs1585563965, rs1585564175, rs879399888, rs1585567204, rs368489658, rs1594866237, rs759339012, rs1595956455, rs1595956595, rs1365926616, rs775887058, rs1596974169, rs1596996962, rs1600341902, rs1600341931, rs1600355373, rs1600355502, rs1600360338, rs1600360654, rs1601891936, rs1601891967, rs1601892395, rs1601926125, rs1601943227, rs1601943268, rs1601943462, rs1602347792, rs1602349705, rs1603288875, rs754970095, rs1573592124, rs1573607809, rs1578097528, rs781377291, rs781616522, rs1581211727, rs1432643009, rs1167742176, rs1562998089, rs1422250479, rs762276925, rs1596976316, rs1600340117, rs1057520752, rs1601890980, rs62638627, rs1602653742, rs1571523755, rs1571525390, rs140260219, rs1571623023, rs1571170561, rs754899711, rs1572934951, rs1578491064, rs1578860254, rs1302809734, rs1581744084, rs1582764878, rs1584179629, rs1585561400, rs1591277785, rs762326108, rs777420525, rs1238109100, rs62638648, rs1576623563, rs1589420011, rs1597331616, rs201205811, rs763324776, rs770984400, rs760858249, rs748863844, rs770329105, rs772748858, rs1187991259, rs1281095503, rs1231668679, rs767882032, rs1225304963, rs371032798, rs1345460401, rs200387832, rs1293202153, rs1574426870, rs776204925, rs758899480, rs1582079626, rs776564041, rs1602190224, rs751413984, rs769723975, rs1584799745, rs776206391, rs1300041533, rs747512450, rs1571158279, rs561075447, rs1571878277, rs745348555, rs1571557864, rs1450635782, rs62635649, rs1571783742, rs759433119, rs1415484067, rs1415157305, rs752058510, rs1573613491, rs774577413, rs778383770, rs746291728, rs1003615909, rs1578278088, rs1578278417, rs371288618, rs1578281565, rs1578281706, rs373680665, rs1355802816, rs745704627, rs374017889, rs1037963003, rs1577301589, rs1577311264, rs1581164958, rs375659222, rs769824975, rs1582140331, rs902462590, rs983691310, rs1562079278, rs1305702728, rs928803207, rs1583260302, rs1583277585, rs1391928253, rs1583442540, rs1582176424, rs760283610, rs770659908, rs1585564369, rs1246790145, rs1589337745, rs888090139, rs1596997875, rs1597223214, rs1600324262, rs1600324442, rs1439576531, rs1600335289, rs1600337158, rs764232082, rs1600350656, rs1601917999, rs1601922202, rs1601923813, rs1601924184, rs1601947074, rs1601961064, rs1601974881, rs1601978817, rs1601978823, rs1601978925, rs1601982532, rs1602347637, rs1602355025, rs1600334904, rs1572027164, rs111033408, rs1571703801, rs1572827477, rs755429480, rs1600335148, rs1254494198, rs1601922877, rs1601924111, rs1589590737, rs1573627154, rs1573638426, rs778005207, rs1424131846, rs1582929649, rs1572263404, rs1582139965, rs1571848659, rs1571848744, rs1571524269, rs768905244, rs1571540258, rs760544654, rs1571681377, rs1571715796, rs768158580, rs368687374, rs1571805235, rs1557600322, rs1571253050, rs779743222, rs1574489337, rs1285501658, rs369937337, rs774215025, rs1572829514, rs1572875669, rs1316281505, rs1578279746, rs1578280574, rs1578280588, rs377600857, rs1575415957, rs1293620319, rs1578059695, rs759079269, rs1560621807, rs1577288305, rs1581164936, rs1581166539, rs1581217626, rs1581727126, rs1581738478, rs763272975, rs375978676, rs1582139184, rs1582139308, rs1168129071, rs1582146096, rs1582930081, rs1582932583, rs749103801, rs1582376398, rs1584728115, rs1585559122, rs1585563283, rs1585563328, rs1587620892, rs794726954, rs1589313739, rs1594214013, rs1371805993, rs1594224781, rs1594280914, rs1594246708, rs1594867516, rs1594867597, rs776270511, rs1595957521, rs1028371920, rs1597445687, rs1176869304, rs1597340989, rs886276412, rs1479239564, rs1600342032, rs1184467860, rs1555961440, rs1346308311, rs1601920423, rs1601920599, rs1601923388, rs1601923578, rs907856232, rs1601940608, rs281865302, rs1601951704, rs1601972255, rs1601972449, rs1601978991, rs1602342597, rs1602347786, rs1602347851, rs1276597208, rs1577301137, rs1561671507, rs1595009158, rs1597951232, rs1600342050, rs1602071514, rs1601931052, rs1602342663, rs1658062720, rs1653548589, rs1659645978, rs1659651471, rs1660519681, rs1664301074, rs771257822, rs1656419435, rs1656646424, rs754834155, rs948087886, rs755099565, rs1657965422, rs1657992030, rs1657996197, rs1386612395, rs1660298900, rs764113446, rs1259758261, rs1664490756, rs1667316070, rs1421761057, rs2032462132, rs758733024, rs2036149054, rs2039692173, rs1659900155, rs1659902823, rs1660937747, rs1661098509, rs1676223605, rs1676864299, rs748204331, rs1671239184, rs1706625164, rs1706833794, rs1707008452, rs2058802102, rs1717541693, rs1738719686, rs867483436, rs1734061767, rs1736425011, rs1736426982, rs1737229618, rs1737442897, rs1761073125, rs1752838269, rs1754418004, rs1773160727, rs986748364, rs1761908297, rs1488052513, rs1769471082, rs1455826633, rs1766367970, rs1300490966, rs1768038999, rs368159852, rs1766217655, rs1286660951, rs1238921380, rs1784160131, rs886210482, rs1806033536, rs1806033844, rs1806128576, rs1205613982, rs1830219226, rs777019428, rs1555210929, rs1836974640, rs1856758582, rs2036808766, rs1163040913, rs745934202, rs1257334132, rs2054205040, rs2051588436, rs2074970792, rs2073701678, rs2073702243, rs2073704298, rs2073708638, rs2073818085, rs1411470197, rs2073962058, rs2073962186, rs2073964950, rs1314226094, rs2073970897, rs2073971805, rs2067117666, rs2067124487, rs2067127275, rs2067159265, rs2067175855, rs2067180233, rs1854473658, rs2067185063, rs2067191541, rs2067192032, rs2067193671, rs2067194747, rs2067198376, rs2067203546, rs1601943325, rs2067498051, rs2067562201, rs2067845149, rs2067985165, rs2067987832, rs1924521431, rs1924897691, rs1924907742, rs1925391988, rs2037140260, rs2031451980, rs1358947010, rs1470798497, rs1601920131, rs34713174, rs1571948114, rs774677256, rs1581186849, rs1601920532, rs1578280614, rs1601951595, rs1585959862, rs748984657, rs1585963931, rs1572879569, rs201070350, rs1571805164, rs768445391, rs1044562973, rs1572829010, rs768837125, rs1582249186, rs1585569717, rs151141842, rs1600356790, rs778731851, rs369184026, rs1665487563, rs1657798642, rs771260365, rs750321557, rs767328784, rs1662880750, rs1424639717, rs1664846292, rs1667471296, rs769609970, rs2032072206, rs201529124, rs2034899784, rs1364987785, rs1191816747, rs780007963, rs1487540503, rs188492864, rs1688308445, rs1476585944, rs769632183, rs748396645, rs772325487, rs769445913, rs1673040470, rs2063883437, rs2084776162, rs2084776365, rs777851867, rs772867912, rs1476546899, rs145605739, rs759537984, rs141252097, rs754916169, rs748972748, rs1166245419, rs771640639, rs1768367412, rs764362221, rs1050742628, rs1299355731, rs184722374, rs1477705832, rs1561965266, rs761760327, rs1245304444, rs1431710414, rs1767601438, rs1764940309, rs1389794536, rs989589885, rs1769936722, rs1765726534, rs780433094, rs1231321479, rs765035454, rs759505780, rs774264204, rs1924904597, rs776014770, rs1662191792, rs1228475082, rs1772614934, rs1193854376, rs748946491, rs767630412, rs746128841, rs748977292, rs1767600988, rs1769267226, rs373232101, rs1167867158, rs1660515780, rs1664290387, rs866822473, rs963201816, rs1664325377, rs1664671663, rs1558138741, rs1656646221, rs1485393201, rs1657976232, rs1657992342, rs1657997730, rs762070900, rs1660922779, rs1661140054, rs1661687852, rs1662771528, rs1558121260, rs1665132445, rs755032078, rs2032459600, rs769198746, rs2034852728, rs2036054600, rs757154662, rs766370703, rs2038566220, rs1195779037, rs2039690812, rs1362964563, rs1242866408, rs775776288, rs1278226911, rs1238123416, rs1689010156, rs200711686, rs1667504255, rs753619551, rs1558490060, rs866543181, rs770399625, rs1472199114, rs764109533, rs1415160298, rs2084785435, rs1402468701, rs984572250, rs768694789, rs1237954156, rs1737429976, rs373037737, rs759563967, rs751589956, rs774204108, rs1409801782, rs1768346880, rs772549804, rs1431427428, rs1770904723, rs909730457, rs1245121527, rs1767699695, rs1295206142, rs746499646, rs1766006937, rs779372264, rs749460193, rs371886218, rs1488237523, rs1806079331, rs1489149705, rs955766374, rs1210263161, rs2073701307, rs2073926924, rs1342475527, rs2067114709, rs2067115815, rs866524368, rs1186795749, rs2067127718, rs1569235565, rs2067136586, rs2067140471, rs2067144007, rs2067146007, rs1555961509, rs2067157388, rs2067160273, rs2067161139, rs2067163605, rs2067164096, rs2067169934, rs2067170858, rs2067172824, rs2067174697, rs1233849070, rs2067176160, rs2067176379, rs1373833359, rs1601922510, rs2067182354, rs2067182636, rs2067182990, rs2067183162, rs2067184023, rs2067185564, rs2067186632, rs2067186762, rs2067187127, rs2067187550, rs2067187618, rs2067188031, rs2067188111, rs2067190364, rs2067190922, rs2067191154, rs2067191335, rs2067191635, rs1305342570, rs2067193056, rs2067194648, rs1569237670, rs762837543, rs760287363, rs1235430504, rs1371160062, rs2031604509, rs1558244152, rs2034951427, rs912980910, rs1662599697, rs1005130980, rs1334444660, rs898144119, rs1383907349, rs1753232409, rs1769469813, rs1961362638, rs2073798309, rs2073961843, rs1836931186, rs1661659605, rs1645824187, rs1343680080, rs1660517678, rs765676754, rs1366609497, rs1656942613, rs1347261858, rs1685567937, rs1667513233, rs1805984836, rs2073842959, rs2067140574, rs2067148119, rs2067166789, rs2067179633, rs2067200470, rs1924900389, rs2034938852
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Unknown
Disease term	Disease name	Evidence	References	Source
Ptosis	Blepharoptosis, Ptosis			ClinVar
Leigh Syndrome	Leigh syndrome			GenCC
Leigh Syndrome With Leukodystrophy	Leigh syndrome with leukodystrophy			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Basal Ganglia Diseases	Associate	30911575
Brain Stem Neoplasms	Associate	30911575
Cardiomyopathies	Associate	25911677
Colorectal Neoplasms	Associate	36299603
CoQ responsive OXPHOS deficiency	Associate	21907147
Leigh Disease	Associate	21907147, 23499752, 25911677, 30911575
Leukoencephalopathies	Associate	30911575
Mitochondrial Diseases	Associate	23499752, 25735936, 30911575