Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
DEPLETION OF MITOCHONDRIAL DEOXYRIBONUCLEIC ACID	C0342782	DGUOK	Unknown	—	Disgenet
		DTYMK	Unknown	—	Disgenet
		FBXL4	Unknown	—	Disgenet
		MPV17	Unknown	—	Disgenet
		POLG	Unknown	—	Disgenet
		POLG2	Unknown	—	Disgenet
		POLGARF	Unknown	—	Disgenet
		RRM2B	Unknown	—	Disgenet
		SUCLA2	Unknown	—	Disgenet
		SUCLG1	Unknown	—	Disgenet
		TK2	Unknown	—	Disgenet
		TWNK	Unknown	—	Disgenet
MITOCHONDRIAL DNA DEPLETION SYNDROME	MONDO:0018158	DTYMK	Unknown	—	GenCC
MITOCHONDRIAL DNA DEPLETION SYNDROME	MONDO:0018158	POLG2	Unknown	11917141 16685652 20405137 21555342 23197651 27592148 28078310 28215579	ClinVar
MITOCHONDRIAL DNA DEPLETION SYNDROME 1	C4551995 MONDO:0011283 603041 OMIM:603041	TYMP	Causal	15781193 16178026 19028666 19853446 20301358 21933806 9924029	ClinVar Disgenet
		FANCI	Unknown	—	Disgenet
		NCAPH2	Unknown	—	Disgenet
		POLG	Unknown	—	CTD HPO
		POLGARF	Unknown	—	Disgenet
		RRM2B	Unknown	—	Disgenet
		SCO2	Unknown	—	Disgenet
MITOCHONDRIAL DNA DEPLETION SYNDROME 11	615084 C3554462 MONDO:0014039 OMIM:615084	MGME1	Causal	23313956 25058219 28097321 28594148 28711739	CTD ClinVar Disgenet HPO
MITOCHONDRIAL DNA DEPLETION SYNDROME 12	C4321247	SLC25A4	Unknown	—	Disgenet
MITOCHONDRIAL DNA DEPLETION SYNDROME 12A , AUTOSOMAL DOMINANT	617184 C4310676 MONDO:0014959 OMIM:617184	SLC25A4	Unknown	27693233 30046662	CTD ClinVar Disgenet HPO
MITOCHONDRIAL DNA DEPLETION SYNDROME 12B , AUTOSOMAL RECESSIVE	615418 C3809443 MONDO:0014175 OMIM:615418	SLC25A4	Unknown	10974536 15647764 16155110 21232697 22187496 23401503 2547778 25732997 8479824 9207786	CTD ClinGen ClinVar Disgenet GWAS catalog HPO
MITOCHONDRIAL DNA DEPLETION SYNDROME 13	MONDO:0014198 615471 OMIM:615471	FBXL4	Causal	23993194	ClinVar GWAS catalog
MITOCHONDRIAL DNA DEPLETION SYNDROME 14	616896 C4225163 MONDO:0014820 OMIM:616896	OPA1	Unknown	—	CTD ClinVar Disgenet GenCC HPO
MITOCHONDRIAL DNA DEPLETION SYNDROME 15	C4310690 617156 MONDO:0014943 OMIM:617156	MPV17	Unknown	—	Disgenet
MITOCHONDRIAL DNA DEPLETION SYNDROME 15	C4310690 617156 MONDO:0014943 OMIM:617156	TFAM	Unknown	27448789 29021295 32399598 34647195 9500544	CTD ClinVar Disgenet HPO
MITOCHONDRIAL DNA DEPLETION SYNDROME 16	C5193142 618528 MONDO:0032799	MILR1	Unknown	—	Disgenet
MITOCHONDRIAL DNA DEPLETION SYNDROME 16	C5193142 618528 MONDO:0032799	POLG2	Unknown	—	ClinVar Disgenet GenCC HPO
MITOCHONDRIAL DNA DEPLETION SYNDROME 16B	C5543632 619425 MONDO:0030326	MILR1	Unknown	—	Disgenet
MITOCHONDRIAL DNA DEPLETION SYNDROME 16B	C5543632 619425 MONDO:0030326	POLG2	Unknown	—	ClinVar Disgenet HPO
MITOCHONDRIAL DNA DEPLETION SYNDROME 17	618567 C5231412 MONDO:0032815	MRM2	Causal	—	ClinVar Disgenet GenCC HPO
MITOCHONDRIAL DNA DEPLETION SYNDROME 18	618811 C5394140 MONDO:0032932	SLC25A21	Causal	29517768	ClinVar Disgenet GWAS catalog HPO
MITOCHONDRIAL DNA DEPLETION SYNDROME 19	618972 C5436514 MONDO:0033545	SLC25A10	Causal	—	ClinVar Disgenet GenCC HPO
MITOCHONDRIAL DNA DEPLETION SYNDROME 2	609560 C3149750 OMIM:609560	TK2	Unknown	—	CTD Disgenet HPO
MITOCHONDRIAL DNA DEPLETION SYNDROME 20	C5676934 619780 MONDO:0030696	ASIC2	Unknown	—	Disgenet
MITOCHONDRIAL DNA DEPLETION SYNDROME 20	C5676934 619780 MONDO:0030696	LIG3	Unknown	32107856 33855352	CTD ClinVar Disgenet HPO
MITOCHONDRIAL DNA DEPLETION SYNDROME 21	621071 MONDO:0976132	GUK1	Unknown	—	ClinVar HPO
MITOCHONDRIAL DNA DEPLETION SYNDROME 3	251880 MONDO:0009636 OMIM:251880	DGUOK	Unknown	—	CTD ClinVar GenCC HPO
MITOCHONDRIAL DNA DEPLETION SYNDROME 4A	MONDO:0008758 203700 OMIM:203700	POLG	Unknown	—	GenCC
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B	C3150914 613662 OMIM:613662 MONDO:0013350	EDAR	Causal	—	Disgenet
		POLG	Causal	—	CTD Disgenet HPO
		FANCI	Unknown	—	Disgenet

Mitochondrial dna depletion syndrome