TIMM50 (translocase of inner mitochondrial membrane 50)

Gene

• Entrez ID: 92609
• Gene name: Translocase of inner mitochondrial membrane 50
• Gene symbol: TIMM50
• Synonyms (NCBI Gene): MGCA9, TIM50, TIM50L
• Disease Acronyms (UniProt): MGCA9
• Chromosome: 19
• Chromosome location: 19q13.2
• Summary: This gene encodes a subunit of the TIM23 inner mitochondrial membrane translocase complex. The encoded protein functions as the receptor subunit that recognizes the mitochondrial targeting signal, or presequence, on protein cargo that is destined for the

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35135520	C>A,G,T	Benign, pathogenic	Coding sequence variant, stop gained, missense variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs776019250	G>C,T	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs797044891	G>A	Pathogenic	Missense variant, coding sequence variant
rs1244226820	C>T	Pathogenic	Coding sequence variant, missense variant
rs1300848445	C>T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs1305711807	G>A	Pathogenic	Coding sequence variant, missense variant
rs1449758112	C>T	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016403	hsa-miR-193b-3p	Proteomics	21512034
MIRT025669	hsa-miR-7-5p	Microarray	19073608
MIRT052037	hsa-let-7b-5p	CLASH	23622248
MIRT051530	hsa-let-7e-5p	CLASH	23622248
MIRT046584	hsa-miR-222-3p	CLASH	23622248
MIRT046584	hsa-miR-222-3p	CLASH	23622248
MIRT043156	hsa-miR-324-5p	CLASH	23622248
MIRT041979	hsa-miR-484	CLASH	23622248
MIRT039882	hsa-miR-615-3p	CLASH	23622248
MIRT039882	hsa-miR-615-3p	CLASH	23622248
MIRT707094	hsa-miR-6732-3p	HITS-CLIP	21572407
MIRT707093	hsa-miR-10a-5p	HITS-CLIP	21572407
MIRT707092	hsa-miR-10b-5p	HITS-CLIP	21572407
MIRT707091	hsa-miR-339-5p	HITS-CLIP	21572407
MIRT707090	hsa-miR-4421	HITS-CLIP	21572407
MIRT707089	hsa-miR-5699-3p	HITS-CLIP	21572407
MIRT707088	hsa-miR-6895-3p	HITS-CLIP	21572407
MIRT707087	hsa-miR-593-3p	HITS-CLIP	21572407
MIRT707086	hsa-miR-4684-5p	HITS-CLIP	21572407
MIRT707085	hsa-miR-6818-3p	HITS-CLIP	21572407
MIRT676080	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT676079	hsa-miR-764	HITS-CLIP	23824327
MIRT676078	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT676077	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT676076	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT676075	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT677921	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT676074	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT676073	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT676072	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT676071	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT676070	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT676069	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT676068	hsa-miR-640	HITS-CLIP	23824327
MIRT676080	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT676079	hsa-miR-764	HITS-CLIP	23824327
MIRT676078	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT676077	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT676076	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT676075	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT676074	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT676073	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT676072	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT676071	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT676070	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT676069	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT676068	hsa-miR-640	HITS-CLIP	23824327
MIRT676080	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT676079	hsa-miR-764	HITS-CLIP	23824327
MIRT676078	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT676077	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT676076	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT676075	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT677921	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT677920	hsa-miR-4635	HITS-CLIP	23824327
MIRT676074	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT676073	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT676072	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT677919	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT676071	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT676070	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT676069	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT676068	hsa-miR-640	HITS-CLIP	23824327
MIRT676082	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT676081	hsa-miR-520h	HITS-CLIP	23824327
MIRT676080	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT676079	hsa-miR-764	HITS-CLIP	23824327
MIRT676078	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT676077	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT676076	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT676075	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT676074	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT676073	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT676072	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT676071	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT676070	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT676069	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT676068	hsa-miR-640	HITS-CLIP	23824327
MIRT640216	hsa-miR-890	HITS-CLIP	23824327
MIRT640215	hsa-miR-4293	HITS-CLIP	23824327
MIRT640214	hsa-miR-5690	HITS-CLIP	23824327
MIRT640213	hsa-miR-544b	HITS-CLIP	23824327
MIRT640212	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT640211	hsa-miR-1827	HITS-CLIP	23824327
MIRT640210	hsa-miR-6827-5p	HITS-CLIP	23824327
MIRT640209	hsa-miR-6090	HITS-CLIP	23824327
MIRT640208	hsa-miR-4300	HITS-CLIP	23824327
MIRT640207	hsa-miR-5591-5p	HITS-CLIP	23824327
MIRT640206	hsa-miR-6726-5p	HITS-CLIP	23824327
MIRT640205	hsa-miR-920	HITS-CLIP	23824327
MIRT640204	hsa-miR-7977	HITS-CLIP	23824327
MIRT640203	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT640202	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT640201	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT640200	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT640199	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT640198	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT640197	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT640196	hsa-miR-3689c	HITS-CLIP	23824327
MIRT640195	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT640194	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT640193	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT707094	hsa-miR-6732-3p	HITS-CLIP	21572407
MIRT707093	hsa-miR-10a-5p	HITS-CLIP	21572407
MIRT707092	hsa-miR-10b-5p	HITS-CLIP	21572407
MIRT707091	hsa-miR-339-5p	HITS-CLIP	21572407
MIRT707090	hsa-miR-4421	HITS-CLIP	21572407
MIRT707089	hsa-miR-5699-3p	HITS-CLIP	21572407
MIRT707088	hsa-miR-6895-3p	HITS-CLIP	21572407
MIRT707087	hsa-miR-593-3p	HITS-CLIP	21572407
MIRT707086	hsa-miR-4684-5p	HITS-CLIP	21572407
MIRT707085	hsa-miR-6818-3p	HITS-CLIP	21572407
MIRT676080	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT676079	hsa-miR-764	HITS-CLIP	23824327
MIRT676078	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT676077	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT676076	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT676075	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT677921	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT676074	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT676073	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT676072	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT676071	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT676070	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT676069	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT676068	hsa-miR-640	HITS-CLIP	23824327
MIRT676080	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT676079	hsa-miR-764	HITS-CLIP	23824327
MIRT676078	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT676077	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT676076	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT676075	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT676074	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT676073	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT676072	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT676071	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT676070	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT676069	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT676068	hsa-miR-640	HITS-CLIP	23824327
MIRT676080	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT676079	hsa-miR-764	HITS-CLIP	23824327
MIRT676078	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT676077	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT676076	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT676075	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT677921	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT677920	hsa-miR-4635	HITS-CLIP	23824327
MIRT676074	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT676073	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT676072	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT677919	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT676071	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT676070	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT676069	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT676068	hsa-miR-640	HITS-CLIP	23824327
MIRT676082	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT676081	hsa-miR-520h	HITS-CLIP	23824327
MIRT676080	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT676079	hsa-miR-764	HITS-CLIP	23824327
MIRT676078	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT676077	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT676076	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT676075	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT676074	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT676073	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT676072	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT676071	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT676070	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT676069	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT676068	hsa-miR-640	HITS-CLIP	23824327
MIRT640216	hsa-miR-890	HITS-CLIP	23824327
MIRT640215	hsa-miR-4293	HITS-CLIP	23824327
MIRT640214	hsa-miR-5690	HITS-CLIP	23824327
MIRT640213	hsa-miR-544b	HITS-CLIP	23824327
MIRT640212	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT640211	hsa-miR-1827	HITS-CLIP	23824327
MIRT640210	hsa-miR-6827-5p	HITS-CLIP	23824327
MIRT640209	hsa-miR-6090	HITS-CLIP	23824327
MIRT640208	hsa-miR-4300	HITS-CLIP	23824327
MIRT640207	hsa-miR-5591-5p	HITS-CLIP	23824327
MIRT640206	hsa-miR-6726-5p	HITS-CLIP	23824327
MIRT640205	hsa-miR-920	HITS-CLIP	23824327
MIRT640204	hsa-miR-7977	HITS-CLIP	23824327
MIRT640203	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT640202	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT640201	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT640200	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT640199	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT640198	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT640197	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT640196	hsa-miR-3689c	HITS-CLIP	23824327
MIRT640195	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT640194	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT640193	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT1425060	hsa-miR-10a	CLIP-seq
MIRT1425061	hsa-miR-10b	CLIP-seq
MIRT1425062	hsa-miR-1285	CLIP-seq
MIRT1425063	hsa-miR-1291	CLIP-seq
MIRT1425064	hsa-miR-1299	CLIP-seq
MIRT1425065	hsa-miR-3187-5p	CLIP-seq
MIRT1425066	hsa-miR-3938	CLIP-seq
MIRT1425067	hsa-miR-3977	CLIP-seq
MIRT1425068	hsa-miR-4252	CLIP-seq
MIRT1425069	hsa-miR-4527	CLIP-seq
MIRT1425070	hsa-miR-4709-5p	CLIP-seq
MIRT1425071	hsa-miR-4725-5p	CLIP-seq
MIRT1425072	hsa-miR-4786-5p	CLIP-seq
MIRT1425073	hsa-miR-504	CLIP-seq
MIRT1425074	hsa-miR-508-5p	CLIP-seq
MIRT1425075	hsa-miR-612	CLIP-seq
MIRT1425076	hsa-miR-661	CLIP-seq
MIRT1425077	hsa-miR-671-5p	CLIP-seq
MIRT1425078	hsa-miR-766	CLIP-seq
MIRT1425079	hsa-miR-769-5p	CLIP-seq
MIRT1425080	hsa-miR-875-3p	CLIP-seq
MIRT2127381	hsa-miR-106a	CLIP-seq
MIRT2127382	hsa-miR-106b	CLIP-seq
MIRT1425062	hsa-miR-1285	CLIP-seq
MIRT2127383	hsa-miR-150	CLIP-seq
MIRT2127384	hsa-miR-17	CLIP-seq
MIRT2127385	hsa-miR-20a	CLIP-seq
MIRT2127386	hsa-miR-20b	CLIP-seq
MIRT2127387	hsa-miR-214	CLIP-seq
MIRT2127388	hsa-miR-302a	CLIP-seq
MIRT2127389	hsa-miR-302b	CLIP-seq
MIRT2127390	hsa-miR-302c	CLIP-seq
MIRT2127391	hsa-miR-302d	CLIP-seq
MIRT2127392	hsa-miR-302e	CLIP-seq
MIRT1425065	hsa-miR-3187-5p	CLIP-seq
MIRT2127393	hsa-miR-3614-5p	CLIP-seq
MIRT2127394	hsa-miR-3619-5p	CLIP-seq
MIRT2127395	hsa-miR-3665	CLIP-seq
MIRT2127396	hsa-miR-372	CLIP-seq
MIRT2127397	hsa-miR-373	CLIP-seq
MIRT2127398	hsa-miR-3934	CLIP-seq
MIRT2127399	hsa-miR-4438	CLIP-seq
MIRT2127400	hsa-miR-4459	CLIP-seq
MIRT1425070	hsa-miR-4709-5p	CLIP-seq
MIRT2127401	hsa-miR-4731-5p	CLIP-seq
MIRT2127402	hsa-miR-4779	CLIP-seq
MIRT1425072	hsa-miR-4786-5p	CLIP-seq
MIRT1425074	hsa-miR-508-5p	CLIP-seq
MIRT2127403	hsa-miR-5095	CLIP-seq
MIRT2127404	hsa-miR-512-3p	CLIP-seq
MIRT2127405	hsa-miR-519d	CLIP-seq
MIRT2127406	hsa-miR-520a-3p	CLIP-seq
MIRT2127407	hsa-miR-520b	CLIP-seq
MIRT2127408	hsa-miR-520c-3p	CLIP-seq
MIRT2127409	hsa-miR-520d-3p	CLIP-seq
MIRT2127410	hsa-miR-520e	CLIP-seq
MIRT2127411	hsa-miR-520g	CLIP-seq
MIRT1425075	hsa-miR-612	CLIP-seq
MIRT2127412	hsa-miR-644	CLIP-seq
MIRT1425076	hsa-miR-661	CLIP-seq
MIRT2127413	hsa-miR-761	CLIP-seq
MIRT1425078	hsa-miR-766	CLIP-seq
MIRT1425079	hsa-miR-769-5p	CLIP-seq
MIRT2127414	hsa-miR-93	CLIP-seq
MIRT2127381	hsa-miR-106a	CLIP-seq
MIRT2127382	hsa-miR-106b	CLIP-seq
MIRT1425062	hsa-miR-1285	CLIP-seq
MIRT1425064	hsa-miR-1299	CLIP-seq
MIRT2349188	hsa-miR-1304	CLIP-seq
MIRT2349189	hsa-miR-136	CLIP-seq
MIRT2127383	hsa-miR-150	CLIP-seq
MIRT2127384	hsa-miR-17	CLIP-seq
MIRT2127385	hsa-miR-20a	CLIP-seq
MIRT2127386	hsa-miR-20b	CLIP-seq
MIRT2349190	hsa-miR-2467-5p	CLIP-seq
MIRT2127388	hsa-miR-302a	CLIP-seq
MIRT2127389	hsa-miR-302b	CLIP-seq
MIRT2127390	hsa-miR-302c	CLIP-seq
MIRT2127391	hsa-miR-302d	CLIP-seq
MIRT2127392	hsa-miR-302e	CLIP-seq
MIRT1425065	hsa-miR-3187-5p	CLIP-seq
MIRT2349191	hsa-miR-3188	CLIP-seq
MIRT2349192	hsa-miR-3545-3p	CLIP-seq
MIRT2127393	hsa-miR-3614-5p	CLIP-seq
MIRT2349193	hsa-miR-3663-5p	CLIP-seq
MIRT2349194	hsa-miR-3664-3p	CLIP-seq
MIRT2127396	hsa-miR-372	CLIP-seq
MIRT2127397	hsa-miR-373	CLIP-seq
MIRT2349195	hsa-miR-3929	CLIP-seq
MIRT2127398	hsa-miR-3934	CLIP-seq
MIRT2349196	hsa-miR-3975	CLIP-seq
MIRT2349197	hsa-miR-4419b	CLIP-seq
MIRT2349198	hsa-miR-4433	CLIP-seq
MIRT2127399	hsa-miR-4438	CLIP-seq
MIRT2349199	hsa-miR-4453	CLIP-seq
MIRT2127400	hsa-miR-4459	CLIP-seq
MIRT2349200	hsa-miR-4478	CLIP-seq
MIRT1425069	hsa-miR-4527	CLIP-seq
MIRT2349201	hsa-miR-4538	CLIP-seq
MIRT2349202	hsa-miR-4695-5p	CLIP-seq
MIRT1425070	hsa-miR-4709-5p	CLIP-seq
MIRT2349203	hsa-miR-4722-5p	CLIP-seq
MIRT2127401	hsa-miR-4731-5p	CLIP-seq
MIRT2349204	hsa-miR-4760-5p	CLIP-seq
MIRT2349205	hsa-miR-4768-3p	CLIP-seq
MIRT2127402	hsa-miR-4779	CLIP-seq
MIRT1425072	hsa-miR-4786-5p	CLIP-seq
MIRT2349206	hsa-miR-485-5p	CLIP-seq
MIRT1425074	hsa-miR-508-5p	CLIP-seq
MIRT2127403	hsa-miR-5095	CLIP-seq
MIRT2349207	hsa-miR-510	CLIP-seq
MIRT2127404	hsa-miR-512-3p	CLIP-seq
MIRT2349208	hsa-miR-515-5p	CLIP-seq
MIRT2127405	hsa-miR-519d	CLIP-seq
MIRT2127406	hsa-miR-520a-3p	CLIP-seq
MIRT2127407	hsa-miR-520b	CLIP-seq
MIRT2127408	hsa-miR-520c-3p	CLIP-seq
MIRT2127409	hsa-miR-520d-3p	CLIP-seq
MIRT2127410	hsa-miR-520e	CLIP-seq
MIRT2127411	hsa-miR-520g	CLIP-seq
MIRT1425075	hsa-miR-612	CLIP-seq
MIRT2349209	hsa-miR-635	CLIP-seq
MIRT1425076	hsa-miR-661	CLIP-seq
MIRT1425077	hsa-miR-671-5p	CLIP-seq
MIRT2349210	hsa-miR-7	CLIP-seq
MIRT1425078	hsa-miR-766	CLIP-seq
MIRT1425079	hsa-miR-769-5p	CLIP-seq
MIRT1425080	hsa-miR-875-3p	CLIP-seq
MIRT2127414	hsa-miR-93	CLIP-seq
MIRT2349211	hsa-miR-940	CLIP-seq
MIRT2127381	hsa-miR-106a	CLIP-seq
MIRT2127382	hsa-miR-106b	CLIP-seq
MIRT1425062	hsa-miR-1285	CLIP-seq
MIRT2127383	hsa-miR-150	CLIP-seq
MIRT2127384	hsa-miR-17	CLIP-seq
MIRT2127385	hsa-miR-20a	CLIP-seq
MIRT2127386	hsa-miR-20b	CLIP-seq
MIRT2127388	hsa-miR-302a	CLIP-seq
MIRT2127389	hsa-miR-302b	CLIP-seq
MIRT2127390	hsa-miR-302c	CLIP-seq
MIRT2127391	hsa-miR-302d	CLIP-seq
MIRT2127392	hsa-miR-302e	CLIP-seq
MIRT1425065	hsa-miR-3187-5p	CLIP-seq
MIRT2127396	hsa-miR-372	CLIP-seq
MIRT2127397	hsa-miR-373	CLIP-seq
MIRT2127398	hsa-miR-3934	CLIP-seq
MIRT1425070	hsa-miR-4709-5p	CLIP-seq
MIRT2127401	hsa-miR-4731-5p	CLIP-seq
MIRT1425074	hsa-miR-508-5p	CLIP-seq
MIRT2127403	hsa-miR-5095	CLIP-seq
MIRT2127404	hsa-miR-512-3p	CLIP-seq
MIRT2127405	hsa-miR-519d	CLIP-seq
MIRT2127406	hsa-miR-520a-3p	CLIP-seq
MIRT2127407	hsa-miR-520b	CLIP-seq
MIRT2127408	hsa-miR-520c-3p	CLIP-seq
MIRT2127409	hsa-miR-520d-3p	CLIP-seq
MIRT2127410	hsa-miR-520e	CLIP-seq
MIRT2127411	hsa-miR-520g	CLIP-seq
MIRT1425075	hsa-miR-612	CLIP-seq
MIRT1425076	hsa-miR-661	CLIP-seq
MIRT1425078	hsa-miR-766	CLIP-seq
MIRT2127414	hsa-miR-93	CLIP-seq
MIRT2461482	hsa-miR-1273f	CLIP-seq
MIRT2461483	hsa-miR-3149	CLIP-seq
MIRT2461484	hsa-miR-3170	CLIP-seq
MIRT2461485	hsa-miR-411	CLIP-seq
MIRT2461486	hsa-miR-4735-5p	CLIP-seq
MIRT2461487	hsa-miR-4775	CLIP-seq
MIRT2461488	hsa-miR-590-3p	CLIP-seq
MIRT2461482	hsa-miR-1273f	CLIP-seq
MIRT2461483	hsa-miR-3149	CLIP-seq
MIRT2461485	hsa-miR-411	CLIP-seq
MIRT2461486	hsa-miR-4735-5p	CLIP-seq
MIRT2461487	hsa-miR-4775	CLIP-seq
MIRT2461488	hsa-miR-590-3p	CLIP-seq
MIRT2127381	hsa-miR-106a	CLIP-seq
MIRT2127382	hsa-miR-106b	CLIP-seq
MIRT2461482	hsa-miR-1273f	CLIP-seq
MIRT2642479	hsa-miR-1283	CLIP-seq
MIRT2349189	hsa-miR-136	CLIP-seq
MIRT2127383	hsa-miR-150	CLIP-seq
MIRT2127384	hsa-miR-17	CLIP-seq
MIRT2127385	hsa-miR-20a	CLIP-seq
MIRT2127386	hsa-miR-20b	CLIP-seq
MIRT2642480	hsa-miR-218	CLIP-seq
MIRT2127388	hsa-miR-302a	CLIP-seq
MIRT2127389	hsa-miR-302b	CLIP-seq
MIRT2127390	hsa-miR-302c	CLIP-seq
MIRT2127391	hsa-miR-302d	CLIP-seq
MIRT2127392	hsa-miR-302e	CLIP-seq
MIRT2461483	hsa-miR-3149	CLIP-seq
MIRT2461484	hsa-miR-3170	CLIP-seq
MIRT2642481	hsa-miR-3613-3p	CLIP-seq
MIRT2642482	hsa-miR-3667-5p	CLIP-seq
MIRT2642483	hsa-miR-3675-3p	CLIP-seq
MIRT2127396	hsa-miR-372	CLIP-seq
MIRT2127397	hsa-miR-373	CLIP-seq
MIRT2127398	hsa-miR-3934	CLIP-seq
MIRT2461485	hsa-miR-411	CLIP-seq
MIRT2642484	hsa-miR-4282	CLIP-seq
MIRT2642485	hsa-miR-4286	CLIP-seq
MIRT2127399	hsa-miR-4438	CLIP-seq
MIRT2642486	hsa-miR-4716-5p	CLIP-seq
MIRT2127401	hsa-miR-4731-5p	CLIP-seq
MIRT2461486	hsa-miR-4735-5p	CLIP-seq
MIRT2461487	hsa-miR-4775	CLIP-seq
MIRT2127403	hsa-miR-5095	CLIP-seq
MIRT2127404	hsa-miR-512-3p	CLIP-seq
MIRT2349208	hsa-miR-515-5p	CLIP-seq
MIRT2127405	hsa-miR-519d	CLIP-seq
MIRT2127406	hsa-miR-520a-3p	CLIP-seq
MIRT2127407	hsa-miR-520b	CLIP-seq
MIRT2127408	hsa-miR-520c-3p	CLIP-seq
MIRT2127409	hsa-miR-520d-3p	CLIP-seq
MIRT2127410	hsa-miR-520e	CLIP-seq
MIRT2127411	hsa-miR-520g	CLIP-seq
MIRT2461488	hsa-miR-590-3p	CLIP-seq
MIRT2642487	hsa-miR-636	CLIP-seq
MIRT2642488	hsa-miR-885-3p	CLIP-seq
MIRT2127414	hsa-miR-93	CLIP-seq
MIRT2127381	hsa-miR-106a	CLIP-seq
MIRT2127382	hsa-miR-106b	CLIP-seq
MIRT2461482	hsa-miR-1273f	CLIP-seq
MIRT1425062	hsa-miR-1285	CLIP-seq
MIRT2349188	hsa-miR-1304	CLIP-seq
MIRT2349189	hsa-miR-136	CLIP-seq
MIRT2127383	hsa-miR-150	CLIP-seq
MIRT2127384	hsa-miR-17	CLIP-seq
MIRT2127385	hsa-miR-20a	CLIP-seq
MIRT2127386	hsa-miR-20b	CLIP-seq
MIRT2127388	hsa-miR-302a	CLIP-seq
MIRT2127389	hsa-miR-302b	CLIP-seq
MIRT2127390	hsa-miR-302c	CLIP-seq
MIRT2127391	hsa-miR-302d	CLIP-seq
MIRT2127392	hsa-miR-302e	CLIP-seq
MIRT2461483	hsa-miR-3149	CLIP-seq
MIRT2461484	hsa-miR-3170	CLIP-seq
MIRT1425065	hsa-miR-3187-5p	CLIP-seq
MIRT2127396	hsa-miR-372	CLIP-seq
MIRT2127397	hsa-miR-373	CLIP-seq
MIRT2127398	hsa-miR-3934	CLIP-seq
MIRT2461485	hsa-miR-411	CLIP-seq
MIRT2127399	hsa-miR-4438	CLIP-seq
MIRT1425070	hsa-miR-4709-5p	CLIP-seq
MIRT2642486	hsa-miR-4716-5p	CLIP-seq
MIRT2127401	hsa-miR-4731-5p	CLIP-seq
MIRT2461486	hsa-miR-4735-5p	CLIP-seq
MIRT2461487	hsa-miR-4775	CLIP-seq
MIRT1425074	hsa-miR-508-5p	CLIP-seq
MIRT2127403	hsa-miR-5095	CLIP-seq
MIRT2127404	hsa-miR-512-3p	CLIP-seq
MIRT2349208	hsa-miR-515-5p	CLIP-seq
MIRT2127405	hsa-miR-519d	CLIP-seq
MIRT2127406	hsa-miR-520a-3p	CLIP-seq
MIRT2127407	hsa-miR-520b	CLIP-seq
MIRT2127408	hsa-miR-520c-3p	CLIP-seq
MIRT2127409	hsa-miR-520d-3p	CLIP-seq
MIRT2127410	hsa-miR-520e	CLIP-seq
MIRT2127411	hsa-miR-520g	CLIP-seq
MIRT2461488	hsa-miR-590-3p	CLIP-seq
MIRT1425075	hsa-miR-612	CLIP-seq
MIRT1425076	hsa-miR-661	CLIP-seq
MIRT1425078	hsa-miR-766	CLIP-seq
MIRT2127414	hsa-miR-93	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001836	Process	Release of cytochrome c from mitochondria	IDA	15044455
GO:0003723	Function	RNA binding	IEA
GO:0004721	Function	Phosphoprotein phosphatase activity	IBA	21873635
GO:0004721	Function	Phosphoprotein phosphatase activity	IDA	15044455
GO:0004722	Function	Protein serine/threonine phosphatase activity	IDA	15044455
GO:0004725	Function	Protein tyrosine phosphatase activity	IDA	15044455
GO:0005134	Function	Interleukin-2 receptor binding	IDA	15044455
GO:0005515	Function	Protein binding	IPI	12620389, 15044455, 25852190, 31980649
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	IDA
GO:0005743	Component	Mitochondrial inner membrane	IDA	15044455
GO:0005744	Component	TIM23 mitochondrial import inner membrane translocase complex	IBA	21873635
GO:0005744	Component	TIM23 mitochondrial import inner membrane translocase complex	IPI	15044455
GO:0006470	Process	Protein dephosphorylation	IDA	15044455
GO:0007006	Process	Mitochondrial membrane organization	IMP	15044455
GO:0016021	Component	Integral component of membrane	IEA
GO:0016607	Component	Nuclear speck	IDA	16008839
GO:0030150	Process	Protein import into mitochondrial matrix	IBA	21873635
GO:0035335	Process	Peptidyl-tyrosine dephosphorylation	IEA
GO:0043021	Function	Ribonucleoprotein complex binding	IDA	16008839

Other IDs

• MIM: 607381
• HGNC: 23656
• e!Ensembl: ENSG00000105197

Protein

• UniProt ID: Q3ZCQ8
• Protein name: Mitochondrial import inner membrane translocase subunit TIM50
• Protein function: Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane (PubMed:30190335, PubMed:38828998). Has some phosphatase activity in vitro; howeve
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03031	NIF	148 → 295	NLI interacting factor-like phosphatase	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Expressed at higher level in brain, kidney and liver (at protein level). {ECO:0000269|PubMed:15044455, ECO:0000269|PubMed:16008839}.
• Sequence:

  MAASAAVFSRLRSGLRLGSRGLCTRLATPPRRAPDQAAEIGSRGSTKAQGPQQQPGSEGP
  SYAKKVALWLAGLLGAGGTVSVVYIFGNNPVDENGAKIPDEFDNDPILVQQLRRTYKYFK
  DYRQMIIEPTSPCLLPDPLQEPYYQPPYTLVLELTGVLLHPEWSLATGWRFKKRPGIETL
  FQQLAPLYEIVIFTSETGMTAFPLIDSVDPHGFISYRLFRDATRYMDGHHVKDISCLNRD
  PARVVVVDCKKEAFRLQPYNGVALRPWDGNSDDRVLLDLSAFLKTIALNGVEDVRTVLEH
  YALEDDPLAAFKQRQSRLEQEEQQRLAELSKSNKQNLFLGSLTSRLWPRSKQP

• Sequence length: 353

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
3-methylglutaconic aciduria	3-METHYLGLUTACONIC ACIDURIA, TYPE IX	rs137854888, rs80356523, rs80356526, rs121434636, rs730880309, rs730880310, rs730880311, rs730880312, rs199474657, rs1603377590, rs104894941, rs2147483647, rs132630277, rs1603377747, rs1603376833, rs104894942, rs1603381671, rs587776741, rs28937899, rs387906755, rs387906756, rs387907218, rs397515738, rs397515740, rs397515747, rs587777224, rs759500860, rs748010262, rs786205138, rs144078282, rs200203460, rs786205139, rs876657402, rs794729166, rs794729167, rs797044891, rs748318386, rs876661038, rs876661112, rs878852999, rs878853654, rs777202372, rs1057516497, rs767006508, rs1057519080, rs1057519081, rs1057519082, rs1060500044, rs1085307797, rs1557194525, rs1244226820, rs974377052, rs781795144, rs1305711807, rs1557191074, rs1555087619, rs769894315, rs1557191170, rs1555736803, rs1555736814, rs1555736793, rs878853656, rs776019250, rs35135520, rs1569552731, rs1565424666, rs1568413644, rs1569552936, rs1603377945, rs1603381860, rs1587799880, rs1603376938, rs185461628, rs1219516037, rs780554501, rs368496010, rs2068570435, rs2068574381, rs2068331233	27573165, 31058414
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
Epileptic encephalopathy	Encephalopathies	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325
Infantile spasms	Infantile Spasm	rs387906686, rs1553579488, rs1553567561
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
Mitochondrial encephalopathy	Mitochondrial encephalopathy	rs199474671, rs199474672, rs776019250, rs35135520
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151
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

Unknown
Disease term	Disease name	Evidence	References	Source
3-Methylglutaconic aciduria	3-methylglutaconic aciduria type 9			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
3 Methylglutaconic Aciduria	Associate	27573165
Brain Diseases	Associate	30190335
Breast Neoplasms	Stimulate	21621504
Breast Neoplasms	Associate	26289846
Developmental Disabilities	Associate	27573165, 35019165
Endometrial Neoplasms	Associate	37259038
Epilepsy	Associate	27573165
Esophageal Neoplasms	Associate	32130753
Intellectual Disability	Associate	27573165, 35019165
Leigh Syndrome due to Mitochondrial Complex V Deficiency	Associate	27573165
Mitochondrial Diseases	Associate	30190335
Mitochondrial encephalopathy	Associate	27573165