MFF (mitochondrial fission factor)

Gene

• Entrez ID: 56947
• Gene name: Mitochondrial fission factor
• Gene symbol: MFF
• Synonyms (NCBI Gene): C2orf33, EMPF2, GL004
• Disease Acronyms (UniProt): EMPF2
• Chromosome: 2
• Chromosome location: 2q36.3
• Summary: This is a nuclear gene encoding a protein that functions in mitochondrial and peroxisomal fission. The encoded protein recruits dynamin-1-like protein (DNM1L) to mitochondria. There are multiple pseudogenes for this gene on chromosomes 1, 5, and X. Altern

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs397514615	C>T	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, stop gained
rs753829320	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs879255690	AA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs886037862	->C	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1285225437	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020583	hsa-miR-155-5p	Proteomics	18668040
MIRT028269	hsa-miR-32-5p	Sequencing	20371350
MIRT054898	hsa-miR-27b-3p	Western blot	25431021
MIRT459539	hsa-miR-548av-3p	PAR-CLIP	20371350
MIRT459538	hsa-miR-4789-3p	PAR-CLIP	20371350
MIRT459537	hsa-miR-5580-3p	PAR-CLIP	20371350
MIRT459536	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT028269	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT459535	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT459534	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT459533	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT459532	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT459531	hsa-miR-1279	PAR-CLIP	20371350
MIRT459530	hsa-miR-4738-3p	PAR-CLIP	20371350
MIRT459529	hsa-miR-8064	PAR-CLIP	20371350
MIRT459528	hsa-miR-5589-3p	PAR-CLIP	20371350
MIRT459539	hsa-miR-548av-3p	PAR-CLIP	20371350
MIRT459538	hsa-miR-4789-3p	PAR-CLIP	20371350
MIRT459537	hsa-miR-5580-3p	PAR-CLIP	20371350
MIRT459536	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT028269	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT459535	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT459534	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT459533	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT459532	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT459531	hsa-miR-1279	PAR-CLIP	20371350
MIRT459530	hsa-miR-4738-3p	PAR-CLIP	20371350
MIRT459529	hsa-miR-8064	PAR-CLIP	20371350
MIRT459528	hsa-miR-5589-3p	PAR-CLIP	20371350
MIRT545000	hsa-miR-548aa	PAR-CLIP	20371350
MIRT544999	hsa-miR-548ap-3p	PAR-CLIP	20371350
MIRT544998	hsa-miR-548t-3p	PAR-CLIP	20371350
MIRT544997	hsa-miR-3662	PAR-CLIP	20371350
MIRT544996	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT544995	hsa-miR-3646	PAR-CLIP	20371350
MIRT544994	hsa-miR-519a-3p	PAR-CLIP	20371350
MIRT544993	hsa-miR-519b-3p	PAR-CLIP	20371350
MIRT544992	hsa-miR-519c-3p	PAR-CLIP	20371350
MIRT544991	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT544990	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT544989	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT544988	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT544987	hsa-miR-3666	PAR-CLIP	20371350
MIRT544985	hsa-miR-4295	PAR-CLIP	20371350
MIRT544986	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT544984	hsa-miR-1323	PAR-CLIP	20371350
MIRT544983	hsa-miR-548o-3p	PAR-CLIP	20371350
MIRT544982	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT544981	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT544980	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT544979	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT544978	hsa-miR-1468-3p	PAR-CLIP	20371350
MIRT459528	hsa-miR-5589-3p	PAR-CLIP	20371350
MIRT544977	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT544976	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT544975	hsa-miR-548aw	PAR-CLIP	20371350
MIRT459539	hsa-miR-548av-3p	PAR-CLIP	20371350
MIRT459538	hsa-miR-4789-3p	PAR-CLIP	20371350
MIRT459537	hsa-miR-5580-3p	PAR-CLIP	20371350
MIRT459536	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT028269	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT459535	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT459534	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT459533	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT459532	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT459531	hsa-miR-1279	PAR-CLIP	20371350
MIRT459530	hsa-miR-4738-3p	PAR-CLIP	20371350
MIRT459529	hsa-miR-8064	PAR-CLIP	20371350
MIRT459528	hsa-miR-5589-3p	PAR-CLIP	20371350
MIRT545000	hsa-miR-548aa	PAR-CLIP	21572407
MIRT544999	hsa-miR-548ap-3p	PAR-CLIP	21572407
MIRT544998	hsa-miR-548t-3p	PAR-CLIP	21572407
MIRT459539	hsa-miR-548av-3p	PAR-CLIP	21572407
MIRT544996	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT544995	hsa-miR-3646	PAR-CLIP	21572407
MIRT544994	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT544993	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT544992	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT459538	hsa-miR-4789-3p	PAR-CLIP	21572407
MIRT459537	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT544991	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT544990	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT544989	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT544988	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT544987	hsa-miR-3666	PAR-CLIP	21572407
MIRT544985	hsa-miR-4295	PAR-CLIP	21572407
MIRT544986	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT544984	hsa-miR-1323	PAR-CLIP	21572407
MIRT544983	hsa-miR-548o-3p	PAR-CLIP	21572407
MIRT459531	hsa-miR-1279	PAR-CLIP	21572407
MIRT459530	hsa-miR-4738-3p	PAR-CLIP	21572407
MIRT544982	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT544981	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT544980	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT544979	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT544978	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT459529	hsa-miR-8064	PAR-CLIP	21572407
MIRT459528	hsa-miR-5589-3p	PAR-CLIP	21572407
MIRT544977	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT544976	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT544975	hsa-miR-548aw	PAR-CLIP	21572407
MIRT556139	hsa-miR-106a-3p	PAR-CLIP	21572407
MIRT545000	hsa-miR-548aa	PAR-CLIP	21572407
MIRT544999	hsa-miR-548ap-3p	PAR-CLIP	21572407
MIRT544998	hsa-miR-548t-3p	PAR-CLIP	21572407
MIRT544997	hsa-miR-3662	PAR-CLIP	21572407
MIRT544996	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT544995	hsa-miR-3646	PAR-CLIP	21572407
MIRT544994	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT544993	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT544992	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT544991	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT544990	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT544989	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT544988	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT544987	hsa-miR-3666	PAR-CLIP	21572407
MIRT544985	hsa-miR-4295	PAR-CLIP	21572407
MIRT544986	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT544984	hsa-miR-1323	PAR-CLIP	21572407
MIRT544983	hsa-miR-548o-3p	PAR-CLIP	21572407
MIRT544982	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT544981	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT544980	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT544979	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT544978	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT459528	hsa-miR-5589-3p	PAR-CLIP	21572407
MIRT544977	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT544976	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT544975	hsa-miR-548aw	PAR-CLIP	21572407
MIRT459539	hsa-miR-548av-3p	PAR-CLIP	23446348
MIRT459538	hsa-miR-4789-3p	PAR-CLIP	23446348
MIRT459537	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT459536	hsa-miR-25-3p	PAR-CLIP	23446348
MIRT028269	hsa-miR-32-5p	PAR-CLIP	23446348
MIRT459535	hsa-miR-363-3p	PAR-CLIP	23446348
MIRT459534	hsa-miR-367-3p	PAR-CLIP	23446348
MIRT459533	hsa-miR-92a-3p	PAR-CLIP	23446348
MIRT459532	hsa-miR-92b-3p	PAR-CLIP	23446348
MIRT459531	hsa-miR-1279	PAR-CLIP	23446348
MIRT459530	hsa-miR-4738-3p	PAR-CLIP	23446348
MIRT459529	hsa-miR-8064	PAR-CLIP	23446348
MIRT459528	hsa-miR-5589-3p	PAR-CLIP	23446348
MIRT459539	hsa-miR-548av-3p	PAR-CLIP	23446348
MIRT459538	hsa-miR-4789-3p	PAR-CLIP	23446348
MIRT459537	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT459531	hsa-miR-1279	PAR-CLIP	23446348
MIRT459530	hsa-miR-4738-3p	PAR-CLIP	23446348
MIRT459529	hsa-miR-8064	PAR-CLIP	23446348
MIRT459528	hsa-miR-5589-3p	PAR-CLIP	23446348
MIRT459539	hsa-miR-548av-3p	PAR-CLIP	23446348
MIRT459538	hsa-miR-4789-3p	PAR-CLIP	23446348
MIRT459537	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT459531	hsa-miR-1279	PAR-CLIP	23446348
MIRT459530	hsa-miR-4738-3p	PAR-CLIP	23446348
MIRT459529	hsa-miR-8064	PAR-CLIP	23446348
MIRT459528	hsa-miR-5589-3p	PAR-CLIP	23446348
MIRT459539	hsa-miR-548av-3p	PAR-CLIP	23592263
MIRT459538	hsa-miR-4789-3p	PAR-CLIP	23592263
MIRT459537	hsa-miR-5580-3p	PAR-CLIP	23592263
MIRT459536	hsa-miR-25-3p	PAR-CLIP	23592263
MIRT028269	hsa-miR-32-5p	PAR-CLIP	23592263
MIRT459535	hsa-miR-363-3p	PAR-CLIP	23592263
MIRT459534	hsa-miR-367-3p	PAR-CLIP	23592263
MIRT459533	hsa-miR-92a-3p	PAR-CLIP	23592263
MIRT459532	hsa-miR-92b-3p	PAR-CLIP	23592263
MIRT459531	hsa-miR-1279	PAR-CLIP	23592263
MIRT459530	hsa-miR-4738-3p	PAR-CLIP	23592263
MIRT459529	hsa-miR-8064	PAR-CLIP	23592263
MIRT459528	hsa-miR-5589-3p	PAR-CLIP	23592263
MIRT459539	hsa-miR-548av-3p	PAR-CLIP	20371350
MIRT459538	hsa-miR-4789-3p	PAR-CLIP	20371350
MIRT459537	hsa-miR-5580-3p	PAR-CLIP	20371350
MIRT459536	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT028269	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT459535	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT459534	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT459533	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT459532	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT459531	hsa-miR-1279	PAR-CLIP	20371350
MIRT459530	hsa-miR-4738-3p	PAR-CLIP	20371350
MIRT459529	hsa-miR-8064	PAR-CLIP	20371350
MIRT459528	hsa-miR-5589-3p	PAR-CLIP	20371350
MIRT459539	hsa-miR-548av-3p	PAR-CLIP	20371350
MIRT459538	hsa-miR-4789-3p	PAR-CLIP	20371350
MIRT459537	hsa-miR-5580-3p	PAR-CLIP	20371350
MIRT459536	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT028269	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT459535	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT459534	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT459533	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT459532	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT459531	hsa-miR-1279	PAR-CLIP	20371350
MIRT459530	hsa-miR-4738-3p	PAR-CLIP	20371350
MIRT459529	hsa-miR-8064	PAR-CLIP	20371350
MIRT459528	hsa-miR-5589-3p	PAR-CLIP	20371350
MIRT545000	hsa-miR-548aa	PAR-CLIP	20371350
MIRT544999	hsa-miR-548ap-3p	PAR-CLIP	20371350
MIRT544998	hsa-miR-548t-3p	PAR-CLIP	20371350
MIRT544997	hsa-miR-3662	PAR-CLIP	20371350
MIRT544996	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT544995	hsa-miR-3646	PAR-CLIP	20371350
MIRT544994	hsa-miR-519a-3p	PAR-CLIP	20371350
MIRT544993	hsa-miR-519b-3p	PAR-CLIP	20371350
MIRT544992	hsa-miR-519c-3p	PAR-CLIP	20371350
MIRT544991	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT544990	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT544989	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT544988	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT544987	hsa-miR-3666	PAR-CLIP	20371350
MIRT544985	hsa-miR-4295	PAR-CLIP	20371350
MIRT544986	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT544984	hsa-miR-1323	PAR-CLIP	20371350
MIRT544983	hsa-miR-548o-3p	PAR-CLIP	20371350
MIRT544982	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT544981	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT544980	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT544979	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT544978	hsa-miR-1468-3p	PAR-CLIP	20371350
MIRT459528	hsa-miR-5589-3p	PAR-CLIP	20371350
MIRT544977	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT544976	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT544975	hsa-miR-548aw	PAR-CLIP	20371350
MIRT459539	hsa-miR-548av-3p	PAR-CLIP	20371350
MIRT459538	hsa-miR-4789-3p	PAR-CLIP	20371350
MIRT459537	hsa-miR-5580-3p	PAR-CLIP	20371350
MIRT459536	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT028269	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT459535	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT459534	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT459533	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT459532	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT459531	hsa-miR-1279	PAR-CLIP	20371350
MIRT459530	hsa-miR-4738-3p	PAR-CLIP	20371350
MIRT459529	hsa-miR-8064	PAR-CLIP	20371350
MIRT459528	hsa-miR-5589-3p	PAR-CLIP	20371350
MIRT545000	hsa-miR-548aa	PAR-CLIP	21572407
MIRT544999	hsa-miR-548ap-3p	PAR-CLIP	21572407
MIRT544998	hsa-miR-548t-3p	PAR-CLIP	21572407
MIRT459539	hsa-miR-548av-3p	PAR-CLIP	21572407
MIRT544996	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT544995	hsa-miR-3646	PAR-CLIP	21572407
MIRT544994	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT544993	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT544992	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT459538	hsa-miR-4789-3p	PAR-CLIP	21572407
MIRT459537	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT544991	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT544990	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT544989	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT544988	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT544987	hsa-miR-3666	PAR-CLIP	21572407
MIRT544985	hsa-miR-4295	PAR-CLIP	21572407
MIRT544986	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT544984	hsa-miR-1323	PAR-CLIP	21572407
MIRT544983	hsa-miR-548o-3p	PAR-CLIP	21572407
MIRT459531	hsa-miR-1279	PAR-CLIP	21572407
MIRT459530	hsa-miR-4738-3p	PAR-CLIP	21572407
MIRT544982	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT544981	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT544980	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT544979	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT544978	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT459529	hsa-miR-8064	PAR-CLIP	21572407
MIRT459528	hsa-miR-5589-3p	PAR-CLIP	21572407
MIRT544977	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT544976	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT544975	hsa-miR-548aw	PAR-CLIP	21572407
MIRT556139	hsa-miR-106a-3p	PAR-CLIP	21572407
MIRT545000	hsa-miR-548aa	PAR-CLIP	21572407
MIRT544999	hsa-miR-548ap-3p	PAR-CLIP	21572407
MIRT544998	hsa-miR-548t-3p	PAR-CLIP	21572407
MIRT544997	hsa-miR-3662	PAR-CLIP	21572407
MIRT544996	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT544995	hsa-miR-3646	PAR-CLIP	21572407
MIRT544994	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT544993	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT544992	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT544991	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT544990	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT544989	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT544988	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT544987	hsa-miR-3666	PAR-CLIP	21572407
MIRT544985	hsa-miR-4295	PAR-CLIP	21572407
MIRT544986	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT544984	hsa-miR-1323	PAR-CLIP	21572407
MIRT544983	hsa-miR-548o-3p	PAR-CLIP	21572407
MIRT544982	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT544981	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT544980	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT544979	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT544978	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT459528	hsa-miR-5589-3p	PAR-CLIP	21572407
MIRT544977	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT544976	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT544975	hsa-miR-548aw	PAR-CLIP	21572407
MIRT459539	hsa-miR-548av-3p	PAR-CLIP	23446348
MIRT459538	hsa-miR-4789-3p	PAR-CLIP	23446348
MIRT459537	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT459536	hsa-miR-25-3p	PAR-CLIP	23446348
MIRT028269	hsa-miR-32-5p	PAR-CLIP	23446348
MIRT459535	hsa-miR-363-3p	PAR-CLIP	23446348
MIRT459534	hsa-miR-367-3p	PAR-CLIP	23446348
MIRT459533	hsa-miR-92a-3p	PAR-CLIP	23446348
MIRT459532	hsa-miR-92b-3p	PAR-CLIP	23446348
MIRT459531	hsa-miR-1279	PAR-CLIP	23446348
MIRT459530	hsa-miR-4738-3p	PAR-CLIP	23446348
MIRT459529	hsa-miR-8064	PAR-CLIP	23446348
MIRT459528	hsa-miR-5589-3p	PAR-CLIP	23446348
MIRT459539	hsa-miR-548av-3p	PAR-CLIP	23446348
MIRT459538	hsa-miR-4789-3p	PAR-CLIP	23446348
MIRT459537	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT459531	hsa-miR-1279	PAR-CLIP	23446348
MIRT459530	hsa-miR-4738-3p	PAR-CLIP	23446348
MIRT459529	hsa-miR-8064	PAR-CLIP	23446348
MIRT459528	hsa-miR-5589-3p	PAR-CLIP	23446348
MIRT459539	hsa-miR-548av-3p	PAR-CLIP	23446348
MIRT459538	hsa-miR-4789-3p	PAR-CLIP	23446348
MIRT459537	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT459531	hsa-miR-1279	PAR-CLIP	23446348
MIRT459530	hsa-miR-4738-3p	PAR-CLIP	23446348
MIRT459529	hsa-miR-8064	PAR-CLIP	23446348
MIRT459528	hsa-miR-5589-3p	PAR-CLIP	23446348
MIRT459539	hsa-miR-548av-3p	PAR-CLIP	23592263
MIRT459538	hsa-miR-4789-3p	PAR-CLIP	23592263
MIRT459537	hsa-miR-5580-3p	PAR-CLIP	23592263
MIRT459536	hsa-miR-25-3p	PAR-CLIP	23592263
MIRT028269	hsa-miR-32-5p	PAR-CLIP	23592263
MIRT459535	hsa-miR-363-3p	PAR-CLIP	23592263
MIRT459534	hsa-miR-367-3p	PAR-CLIP	23592263
MIRT459533	hsa-miR-92a-3p	PAR-CLIP	23592263
MIRT459532	hsa-miR-92b-3p	PAR-CLIP	23592263
MIRT459531	hsa-miR-1279	PAR-CLIP	23592263
MIRT459530	hsa-miR-4738-3p	PAR-CLIP	23592263
MIRT459529	hsa-miR-8064	PAR-CLIP	23592263
MIRT459528	hsa-miR-5589-3p	PAR-CLIP	23592263
MIRT1146071	hsa-miR-1262	CLIP-seq
MIRT1146072	hsa-miR-1267	CLIP-seq
MIRT1146073	hsa-miR-1269	CLIP-seq
MIRT1146074	hsa-miR-1269b	CLIP-seq
MIRT1146075	hsa-miR-1283	CLIP-seq
MIRT1146076	hsa-miR-1288	CLIP-seq
MIRT1146077	hsa-miR-1293	CLIP-seq
MIRT1146078	hsa-miR-1299	CLIP-seq
MIRT1146079	hsa-miR-130a	CLIP-seq
MIRT1146080	hsa-miR-130b	CLIP-seq
MIRT1146081	hsa-miR-139-5p	CLIP-seq
MIRT1146082	hsa-miR-144	CLIP-seq
MIRT1146083	hsa-miR-150	CLIP-seq
MIRT1146084	hsa-miR-1827	CLIP-seq
MIRT1146085	hsa-miR-19a	CLIP-seq
MIRT1146086	hsa-miR-19b	CLIP-seq
MIRT1146087	hsa-miR-2467-3p	CLIP-seq
MIRT1146088	hsa-miR-25	CLIP-seq
MIRT1146089	hsa-miR-301a	CLIP-seq
MIRT1146090	hsa-miR-301b	CLIP-seq
MIRT1146091	hsa-miR-3127-5p	CLIP-seq
MIRT1146092	hsa-miR-3138	CLIP-seq
MIRT1146093	hsa-miR-3163	CLIP-seq
MIRT1146094	hsa-miR-3180-5p	CLIP-seq
MIRT1146095	hsa-miR-32	CLIP-seq
MIRT1146096	hsa-miR-363	CLIP-seq
MIRT1146097	hsa-miR-3667-3p	CLIP-seq
MIRT1146098	hsa-miR-367	CLIP-seq
MIRT1146099	hsa-miR-3672	CLIP-seq
MIRT1146100	hsa-miR-3678-3p	CLIP-seq
MIRT1146101	hsa-miR-3911	CLIP-seq
MIRT1146102	hsa-miR-4259	CLIP-seq
MIRT1146103	hsa-miR-4267	CLIP-seq
MIRT1146104	hsa-miR-4455	CLIP-seq
MIRT1146105	hsa-miR-4483	CLIP-seq
MIRT1146106	hsa-miR-4502	CLIP-seq
MIRT1146107	hsa-miR-450b-5p	CLIP-seq
MIRT1146108	hsa-miR-4515	CLIP-seq
MIRT1146109	hsa-miR-454	CLIP-seq
MIRT1146110	hsa-miR-4645-3p	CLIP-seq
MIRT1146111	hsa-miR-4666-3p	CLIP-seq
MIRT1146112	hsa-miR-4684-5p	CLIP-seq
MIRT1146113	hsa-miR-4691-5p	CLIP-seq
MIRT1146114	hsa-miR-4701-3p	CLIP-seq
MIRT1146115	hsa-miR-4713-5p	CLIP-seq
MIRT1146116	hsa-miR-4740-5p	CLIP-seq
MIRT1146117	hsa-miR-4762-5p	CLIP-seq
MIRT1146118	hsa-miR-4782-5p	CLIP-seq
MIRT1146119	hsa-miR-4800-5p	CLIP-seq
MIRT1146120	hsa-miR-499a-5p	CLIP-seq
MIRT1146121	hsa-miR-516b	CLIP-seq
MIRT1146122	hsa-miR-518a-5p	CLIP-seq
MIRT1146123	hsa-miR-519a	CLIP-seq
MIRT1146124	hsa-miR-527	CLIP-seq
MIRT1146125	hsa-miR-532-3p	CLIP-seq
MIRT1146126	hsa-miR-548o	CLIP-seq
MIRT1146127	hsa-miR-7	CLIP-seq
MIRT1146128	hsa-miR-875-3p	CLIP-seq
MIRT1146129	hsa-miR-92a	CLIP-seq
MIRT1146130	hsa-miR-92b	CLIP-seq
MIRT2041540	hsa-miR-1208	CLIP-seq
MIRT2041541	hsa-miR-141	CLIP-seq
MIRT2041542	hsa-miR-200a	CLIP-seq
MIRT1146091	hsa-miR-3127-5p	CLIP-seq
MIRT1146092	hsa-miR-3138	CLIP-seq
MIRT1146101	hsa-miR-3911	CLIP-seq
MIRT1146104	hsa-miR-4455	CLIP-seq
MIRT2041543	hsa-miR-452	CLIP-seq
MIRT2041544	hsa-miR-4676-3p	CLIP-seq
MIRT1146119	hsa-miR-4800-5p	CLIP-seq
MIRT2041545	hsa-miR-580	CLIP-seq
MIRT2271150	hsa-miR-186	CLIP-seq
MIRT1146088	hsa-miR-25	CLIP-seq
MIRT1146095	hsa-miR-32	CLIP-seq
MIRT1146096	hsa-miR-363	CLIP-seq
MIRT1146098	hsa-miR-367	CLIP-seq
MIRT2271151	hsa-miR-4720-3p	CLIP-seq
MIRT2271152	hsa-miR-4796-5p	CLIP-seq
MIRT2271153	hsa-miR-4804-3p	CLIP-seq
MIRT2271154	hsa-miR-495	CLIP-seq
MIRT2271155	hsa-miR-548a-3p	CLIP-seq
MIRT2271156	hsa-miR-548e	CLIP-seq
MIRT2271157	hsa-miR-548f	CLIP-seq
MIRT1146126	hsa-miR-548o	CLIP-seq
MIRT1146129	hsa-miR-92a	CLIP-seq
MIRT1146130	hsa-miR-92b	CLIP-seq
MIRT2390848	hsa-miR-4765	CLIP-seq
MIRT2390849	hsa-miR-542-3p	CLIP-seq
MIRT1146071	hsa-miR-1262	CLIP-seq
MIRT1146072	hsa-miR-1267	CLIP-seq
MIRT1146073	hsa-miR-1269	CLIP-seq
MIRT1146074	hsa-miR-1269b	CLIP-seq
MIRT1146075	hsa-miR-1283	CLIP-seq
MIRT1146076	hsa-miR-1288	CLIP-seq
MIRT1146077	hsa-miR-1293	CLIP-seq
MIRT1146078	hsa-miR-1299	CLIP-seq
MIRT1146081	hsa-miR-139-5p	CLIP-seq
MIRT1146082	hsa-miR-144	CLIP-seq
MIRT1146083	hsa-miR-150	CLIP-seq
MIRT1146084	hsa-miR-1827	CLIP-seq
MIRT2570273	hsa-miR-2053	CLIP-seq
MIRT1146091	hsa-miR-3127-5p	CLIP-seq
MIRT1146092	hsa-miR-3138	CLIP-seq
MIRT2570274	hsa-miR-3144-3p	CLIP-seq
MIRT1146094	hsa-miR-3180-5p	CLIP-seq
MIRT2570275	hsa-miR-3613-3p	CLIP-seq
MIRT2570276	hsa-miR-3616-5p	CLIP-seq
MIRT2570277	hsa-miR-3647-5p	CLIP-seq
MIRT1146097	hsa-miR-3667-3p	CLIP-seq
MIRT1146099	hsa-miR-3672	CLIP-seq
MIRT2570278	hsa-miR-3682-5p	CLIP-seq
MIRT1146101	hsa-miR-3911	CLIP-seq
MIRT2570279	hsa-miR-409-3p	CLIP-seq
MIRT1146102	hsa-miR-4259	CLIP-seq
MIRT1146103	hsa-miR-4267	CLIP-seq
MIRT2570280	hsa-miR-4427	CLIP-seq
MIRT1146104	hsa-miR-4455	CLIP-seq
MIRT1146105	hsa-miR-4483	CLIP-seq
MIRT1146106	hsa-miR-4502	CLIP-seq
MIRT1146107	hsa-miR-450b-5p	CLIP-seq
MIRT1146108	hsa-miR-4515	CLIP-seq
MIRT1146110	hsa-miR-4645-3p	CLIP-seq
MIRT2570281	hsa-miR-4680-3p	CLIP-seq
MIRT1146112	hsa-miR-4684-5p	CLIP-seq
MIRT1146113	hsa-miR-4691-5p	CLIP-seq
MIRT1146114	hsa-miR-4701-3p	CLIP-seq
MIRT1146115	hsa-miR-4713-5p	CLIP-seq
MIRT1146116	hsa-miR-4740-5p	CLIP-seq
MIRT2570282	hsa-miR-4762-3p	CLIP-seq
MIRT1146117	hsa-miR-4762-5p	CLIP-seq
MIRT1146118	hsa-miR-4782-5p	CLIP-seq
MIRT2570283	hsa-miR-4795-5p	CLIP-seq
MIRT2271152	hsa-miR-4796-5p	CLIP-seq
MIRT1146119	hsa-miR-4800-5p	CLIP-seq
MIRT2570284	hsa-miR-488	CLIP-seq
MIRT1146120	hsa-miR-499a-5p	CLIP-seq
MIRT1146121	hsa-miR-516b	CLIP-seq
MIRT1146122	hsa-miR-518a-5p	CLIP-seq
MIRT1146124	hsa-miR-527	CLIP-seq
MIRT1146125	hsa-miR-532-3p	CLIP-seq
MIRT2271155	hsa-miR-548a-3p	CLIP-seq
MIRT2271156	hsa-miR-548e	CLIP-seq
MIRT2271157	hsa-miR-548f	CLIP-seq
MIRT1146126	hsa-miR-548o	CLIP-seq
MIRT2570285	hsa-miR-569	CLIP-seq
MIRT2570286	hsa-miR-573	CLIP-seq
MIRT2570287	hsa-miR-591	CLIP-seq
MIRT2570288	hsa-miR-653	CLIP-seq
MIRT1146127	hsa-miR-7	CLIP-seq
MIRT1146128	hsa-miR-875-3p	CLIP-seq
MIRT2570289	hsa-miR-875-5p	CLIP-seq
MIRT1146071	hsa-miR-1262	CLIP-seq
MIRT1146073	hsa-miR-1269	CLIP-seq
MIRT1146074	hsa-miR-1269b	CLIP-seq
MIRT1146075	hsa-miR-1283	CLIP-seq
MIRT1146076	hsa-miR-1288	CLIP-seq
MIRT1146077	hsa-miR-1293	CLIP-seq
MIRT1146078	hsa-miR-1299	CLIP-seq
MIRT1146081	hsa-miR-139-5p	CLIP-seq
MIRT1146083	hsa-miR-150	CLIP-seq
MIRT2684937	hsa-miR-154	CLIP-seq
MIRT1146084	hsa-miR-1827	CLIP-seq
MIRT2570273	hsa-miR-2053	CLIP-seq
MIRT1146091	hsa-miR-3127-5p	CLIP-seq
MIRT1146092	hsa-miR-3138	CLIP-seq
MIRT2570274	hsa-miR-3144-3p	CLIP-seq
MIRT2684938	hsa-miR-3185	CLIP-seq
MIRT2570275	hsa-miR-3613-3p	CLIP-seq
MIRT2570276	hsa-miR-3616-5p	CLIP-seq
MIRT2570277	hsa-miR-3647-5p	CLIP-seq
MIRT1146097	hsa-miR-3667-3p	CLIP-seq
MIRT2570278	hsa-miR-3682-5p	CLIP-seq
MIRT1146101	hsa-miR-3911	CLIP-seq
MIRT2570279	hsa-miR-409-3p	CLIP-seq
MIRT1146102	hsa-miR-4259	CLIP-seq
MIRT2570280	hsa-miR-4427	CLIP-seq
MIRT1146104	hsa-miR-4455	CLIP-seq
MIRT1146105	hsa-miR-4483	CLIP-seq
MIRT1146106	hsa-miR-4502	CLIP-seq
MIRT1146107	hsa-miR-450b-5p	CLIP-seq
MIRT1146108	hsa-miR-4515	CLIP-seq
MIRT2570281	hsa-miR-4680-3p	CLIP-seq
MIRT1146112	hsa-miR-4684-5p	CLIP-seq
MIRT1146113	hsa-miR-4691-5p	CLIP-seq
MIRT1146114	hsa-miR-4701-3p	CLIP-seq
MIRT1146115	hsa-miR-4713-5p	CLIP-seq
MIRT1146116	hsa-miR-4740-5p	CLIP-seq
MIRT2570282	hsa-miR-4762-3p	CLIP-seq
MIRT1146117	hsa-miR-4762-5p	CLIP-seq
MIRT1146118	hsa-miR-4782-5p	CLIP-seq
MIRT2570283	hsa-miR-4795-5p	CLIP-seq
MIRT1146119	hsa-miR-4800-5p	CLIP-seq
MIRT2570284	hsa-miR-488	CLIP-seq
MIRT1146120	hsa-miR-499a-5p	CLIP-seq
MIRT1146121	hsa-miR-516b	CLIP-seq
MIRT1146122	hsa-miR-518a-5p	CLIP-seq
MIRT1146124	hsa-miR-527	CLIP-seq
MIRT1146125	hsa-miR-532-3p	CLIP-seq
MIRT2271155	hsa-miR-548a-3p	CLIP-seq
MIRT2271156	hsa-miR-548e	CLIP-seq
MIRT2271157	hsa-miR-548f	CLIP-seq
MIRT1146126	hsa-miR-548o	CLIP-seq
MIRT2570285	hsa-miR-569	CLIP-seq
MIRT2570286	hsa-miR-573	CLIP-seq
MIRT2570287	hsa-miR-591	CLIP-seq
MIRT2570288	hsa-miR-653	CLIP-seq
MIRT1146127	hsa-miR-7	CLIP-seq
MIRT1146128	hsa-miR-875-3p	CLIP-seq
MIRT2570289	hsa-miR-875-5p	CLIP-seq
MIRT2684939	hsa-miR-876-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000266	Process	Mitochondrial fission	ISS
GO:0001836	Process	Release of cytochrome c from mitochondria	IMP	18353969
GO:0005515	Function	Protein binding	IPI	21149567, 26358295, 29464060
GO:0005739	Component	Mitochondrion	IDA
GO:0005741	Component	Mitochondrial outer membrane	IDA	21149567
GO:0005777	Component	Peroxisome	IBA	21873635
GO:0005777	Component	Peroxisome	IDA	18353969, 23921378
GO:0006626	Process	Protein targeting to mitochondrion	IBA	21873635
GO:0006626	Process	Protein targeting to mitochondrion	IMP	21149567
GO:0006626	Process	Protein targeting to mitochondrion	ISS
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008053	Process	Mitochondrial fusion	IMP	23921378
GO:0010821	Process	Regulation of mitochondrion organization	IMP	18353969, 21149567
GO:0016559	Process	Peroxisome fission	IMP	18353969, 21149567
GO:0031307	Component	Integral component of mitochondrial outer membrane	IBA	21873635
GO:0032592	Component	Integral component of mitochondrial membrane	IDA	18353969
GO:0032991	Component	Protein-containing complex	IDA	18353969
GO:0042802	Function	Identical protein binding	IPI	18353969
GO:0042803	Function	Protein homodimerization activity	IDA	23530241
GO:0043653	Process	Mitochondrial fragmentation involved in apoptotic process	IMP	18353969, 21149567
GO:0070584	Process	Mitochondrion morphogenesis	IMP	21149567
GO:0090141	Process	Positive regulation of mitochondrial fission	IBA	21873635
GO:0090141	Process	Positive regulation of mitochondrial fission	IDA	23283981, 23530241
GO:0090200	Process	Positive regulation of release of cytochrome c from mitochondria	IMP	21149567
GO:0090314	Process	Positive regulation of protein targeting to membrane	IDA	23283981
GO:1900063	Process	Regulation of peroxisome organization	IMP	18353969

Other IDs

• MIM: 614785
• HGNC: 24858
• e!Ensembl: ENSG00000168958

Protein

• UniProt ID: Q9GZY8
• Protein name: Mitochondrial fission factor
• Protein function: Plays a role in mitochondrial and peroxisomal fission (PubMed:18353969, PubMed:23530241, PubMed:24196833). Promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface (PubMed:23
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05644	Miff	27 → 342	Mitochondrial and peroxisomal fission factor Mff	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in heart, kidney, liver, brain, muscle, and stomach. {ECO:0000269|PubMed:18353969}.
• Sequence:

  MSKGTSSDTSLGRVSRAAFPSPTAAEMAEISRIQYEMEYTEGISQRMRVPEKLKVAPPNA
  DLEQGFQEGVPNASVIMQVPERIVVAGNNEDVSFSRPADLDLIQSTPFKPLALKTPPRVL
  TLSERPLDFLDLERPPTTPQNEEIRAVGRLKRERSMSENAVRQNGQLVRNDSLWHRSDSA
  PRNKISRFQAPISAPEYTVTPSPQQARVCPPHMLPEDGANLSSARGILSLIQSSTRRAYQ
  QILDVLDENRRPVLRGGSAAATSNPHHDNVRYGISNIDTTIEGTSDDLTVVDAASLRRQI
  IKLNRRLQLLEEENKERAKREMVMYSITVAFWLLNSWLWFRR

• Sequence length: 342

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
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
Encephalopathy	ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2, MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	rs118204095, rs118204096, rs118204101, rs118204109, rs118204119, rs28939378, rs121908531, rs28936674, rs80359829, rs80359828, rs80359816, rs80359814, rs2124448824, rs121909739, rs121909740, rs267607061, rs80359818, rs387906935, rs1563989427, rs387907312, rs387907313, rs397514615, rs587784391, rs587784397, rs587784396, rs587784390, rs587784393, rs75485205, rs794729221, rs368311455, rs796053264, rs796053263, rs796053254, rs796053253, rs80359823, rs794727642, rs796053272, rs80359841, rs375169579, rs747753388, rs863224237, rs863223953, rs864309522, rs864321623, rs200659479, rs864321622, rs369160589, rs878853161, rs879253874, rs879255685, rs886037861, rs879255686, rs886037862, rs753829320, rs879255690, rs886039517, rs769525399, rs776095655, rs886041590, rs1057517515, rs1057517477, rs1057517729, rs1057517822, rs1057518953, rs1057518694, rs1057521967, rs1057520545, rs1057521066, rs80359832, rs368458768, rs1131691330, rs539962457, rs1190703859, rs776874412, rs1417315589, rs1553155986, rs1553156053, rs1553156051, rs1553156069, rs1554523224, rs1553157935, rs1553155973, rs1259158687, rs1413339367, rs753161833, rs143595616, rs1285225437, rs1553169629, rs1553169787, rs762366252, rs1553170029, rs1187631754, rs1553169720, rs1479104927, rs1345986424, rs1557646673, rs1565548029, rs80359819, rs1210153519, rs1557646075, rs1570590834, rs1570592933, rs80359812, rs1570593665, rs760398697, rs1570601007, rs1387203768, rs1570592844, rs1570593820, rs1570601060, rs1592661973, rs1570590859, rs1570590905, rs1341055534, rs1570592604, rs201966320, rs1645359135, rs751557097, rs752468216, rs80359824, rs1159593580, rs1677398842	26783368, 22499341, 27604308
External ophthalmoplegia	External Ophthalmoplegia	rs1569484022
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Mitochondrial encephalomyopathy	Mitochondrial Encephalomyopathies	rs121434462, rs199474661, rs121434456, rs207459999, rs387906731, rs387906736
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
Myocardial infarction	Myocardial Infarction		23867156	ClinVar
Leigh Syndrome	Leigh syndrome			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Carcinoma Hepatocellular	Associate	35538029
Hypoxia	Stimulate	35042949
Lung Diseases	Associate	35042949
Mitochondrial Diseases	Stimulate	22878233
Muscular Dystrophy Congenital Megaconial Type	Associate	34518586
Myelodysplastic Syndromes	Associate	29725013
Neoplasms	Associate	31542392
Neurodegenerative Diseases	Associate	26008206
Ovarian Neoplasms	Associate	37291333
Pulmonary Arterial Hypertension	Associate	35042949
Pulmonary Disease Chronic Obstructive	Associate	38110986
Sjogren's Syndrome	Associate	35359935
Sleep Deprivation	Stimulate	22878233
Sleep Deprivation	Associate	24176854, 29725013
Vascular Diseases	Associate	33763168