Mitochondrial disease | Gene-Disease Associations & Pathways | GeDiPNet

GeDiPNet

Log in to bookmark this disease

Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
MITOCHONDRIAL DISEASE	MONDO:0044970	AARS2	Causal	21549344 24808023 29228266 29980628 30285085 31705293	ClinGen, GenCC	Aminoacyl-tRNA biosynthesis
		C1QBP	Causal	22904065 28498888 28942965 29123152 32652806 33344382 33977026 34003581 34419324 35119291 35310974 9305894	ClinGen, GWAS catalog	Apoptotic factor-mediated response Intrinsic Pathway of Fibrin Clot Formation Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function
		COX20	Causal	22095077 23125284 24202787 24403053 30656193 31079202 32606554 32999401 33751098	ClinGen, Orphanet	Thermogenesis TP53 Regulates Metabolic Genes Respiratory electron transport
		FOXRED1	Causal	20818383 20858599 22200994 25678554 28797839 30392038 30723688 33613441	ClinGen, Disgenet	—
		MPV17	Causal	16582910 16909392 1696177 22508010 22964873 24247928 26437932 26760297 29282788 29318572 30298599 30833296 33340416	ClinGen, GWAS catalog	Peroxisome Peroxisomal protein import
		MRPL39	Causal	33340416 37133451	ClinGen, Disgenet	Mitochondrial translation elongation Mitochondrial translation termination
		NARS2	Causal	25807530 26402642 29980628 31967322 32488467	CTD	Aminoacyl-tRNA biosynthesis
		NDUFC2	Causal	27509854 32969598	CTD, ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +13 more
		NDUFS1	Causal	11349233 20382551 21458341 22200994 24952175 25615419 33340416	ClinGen, GWAS catalog	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFS4	Causal	10944442 11181577 12616398 14749350 14765537 18396137 22326555 22653057 24020637 27079373 27671926 29590638 33340416 35379322 9463323	ClinGen, Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		RARS2	Causal	17847012 20635367 21273289 22569581 24639874 25809939 31536827 32071833 33209735	ClinGen, GWAS catalog	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
		RMND1	Causal	23022099 25058219 25604853 26395190 27412952	ClinGen, GWAS catalog	—
		SLC25A4	Causal	30013777 27693233 16155110 22187496 25732997 23401503	GWAS catalog	Calcium signaling pathway cGMP-PKG signaling pathway Necroptosis +15 more
		SURF1	Causal	10443880 22488715 23829769 25164807 27756633 29601977 36795052 9837813	ClinGen, Disgenet	TP53 Regulates Metabolic Genes Respiratory electron transport
		TK2	Causal	11687801 15639197 16908738 18467430 20123860 29602790 33340416	ClinGen, GWAS catalog	Pyrimidine metabolism Drug metabolism - other enzymes Metabolic pathways +2 more
		TMEM126B	Causal	22982022 27290639 27374773 27374774 27977873 29093663	ClinGen, GWAS catalog	Complex I biogenesis
		TRIT1	Causal	24901367 26857223 28185376 30977854 31140736 32088416 32376682 32948376 35418828 35568357	ClinGen, GWAS catalog	Metabolic pathways tRNA modification in the mitochondrion
		TRMT10C	Causal	27132592 33886802	CTD, ClinGen	tRNA processing in the mitochondrion tRNA modification in the mitochondrion rRNA processing in the mitochondrion
		TTC19	Causal	21278747 24397319 25652355 28673544 37927170	ClinGen, GWAS catalog	—