Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
DEPLETION OF MITOCHONDRIAL DEOXYRIBONUCLEIC ACID	C0342782	DGUOK	Unknown	—	Disgenet	Purine metabolism Metabolic pathways Nucleotide metabolism +1 more
		DTYMK	Unknown	—	Disgenet	Pyrimidine metabolism Metabolic pathways Nucleotide metabolism +1 more
		FBXL4	Unknown	—	Disgenet	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
		MPV17	Unknown	—	Disgenet	Peroxisome Peroxisomal protein import
		POLG	Unknown	—	Disgenet	Base excision repair
		POLG2	Unknown	—	Disgenet	Base excision repair Transcriptional activation of mitochondrial biogenesis
		POLGARF	Unknown	—	Disgenet	—
		RRM2B	Unknown	—	Disgenet	Purine metabolism Pyrimidine metabolism Glutathione metabolism +6 more
		SUCLA2	Unknown	—	Disgenet	Citrate cycle (TCA cycle) Propanoate metabolism Metabolic pathways +2 more
		SUCLG1	Unknown	—	Disgenet	Citrate cycle (TCA cycle) Propanoate metabolism Metabolic pathways +2 more
		TK2	Unknown	—	Disgenet	Pyrimidine metabolism Drug metabolism - other enzymes Metabolic pathways +2 more
		TWNK	Unknown	—	Disgenet	Spinocerebellar ataxia Transcriptional activation of mitochondrial biogenesis
MITOCHONDRIAL DNA DEPLETION SYNDROME	MONDO:0018158	DTYMK	Unknown	—	GenCC	Pyrimidine metabolism Metabolic pathways Nucleotide metabolism +1 more
MITOCHONDRIAL DNA DEPLETION SYNDROME	MONDO:0018158	POLG2	Unknown	11917141 16685652 20405137 21555342 23197651 27592148 28078310 28215579	ClinVar	Base excision repair Transcriptional activation of mitochondrial biogenesis
MITOCHONDRIAL DNA DEPLETION SYNDROME 1	C4551995 MONDO:0011283 603041 OMIM:603041	TYMP	Causal	15781193 16178026 19028666 19853446 20301358 21933806 9924029	ClinVar, Disgenet, CTD, HPO	Pyrimidine metabolism Drug metabolism - other enzymes Metabolic pathways +4 more
		FANCI	Unknown	—	Disgenet	Fanconi anemia pathway Fanconi Anemia Pathway TP53 Regulates Transcription of DNA Repair Genes
		NCAPH2	Unknown	—	Disgenet	Condensation of Prophase Chromosomes
		POLG	Unknown	—	ClinVar, Disgenet, CTD, HPO	Base excision repair
		POLGARF	Unknown	—	Disgenet	—
		RRM2B	Unknown	—	Disgenet	Purine metabolism Pyrimidine metabolism Glutathione metabolism +6 more
		SCO2	Unknown	—	Disgenet	Central carbon metabolism in cancer TP53 Regulates Metabolic Genes Respiratory electron transport
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	Calcium signaling pathway cGMP-PKG signaling pathway Necroptosis +15 more
MITOCHONDRIAL DNA DEPLETION SYNDROME 12A , AUTOSOMAL DOMINANT	617184 C4310676 MONDO:0014959 OMIM:617184	SLC25A4	Unknown	27693233 30046662	CTD, ClinVar, Disgenet, HPO	Calcium signaling pathway cGMP-PKG signaling pathway Necroptosis +15 more
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	Calcium signaling pathway cGMP-PKG signaling pathway Necroptosis +15 more
MITOCHONDRIAL DNA DEPLETION SYNDROME 13	MONDO:0014198 615471 OMIM:615471	FBXL4	Causal	23993194	ClinVar, GWAS catalog, CTD, HPO	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
MITOCHONDRIAL DNA DEPLETION SYNDROME 14	616896 C4225163 MONDO:0014820 OMIM:616896	OPA1	Unknown	—	CTD, ClinVar, Disgenet, GenCC, HPO	Mitophagy - animal Spinocerebellar ataxia Regulation of Apoptosis
MITOCHONDRIAL DNA DEPLETION SYNDROME 15	C4310690 617156 MONDO:0014943 OMIM:617156	MPV17	Unknown	—	Disgenet	Peroxisome Peroxisomal protein import
MITOCHONDRIAL DNA DEPLETION SYNDROME 15	C4310690 617156 MONDO:0014943 OMIM:617156	TFAM	Unknown	27448789 29021295 32399598 34647195 9500544	CTD, ClinVar, Disgenet, HPO	Apelin signaling pathway Huntington disease Mitochondrial transcription initiation +1 more
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	Base excision repair Transcriptional activation of mitochondrial biogenesis
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	Base excision repair Transcriptional activation of mitochondrial biogenesis
MITOCHONDRIAL DNA DEPLETION SYNDROME 17	618567 C5231412 MONDO:0032815	MRM2	Causal	—	ClinVar, Disgenet, GenCC, HPO	rRNA modification in the mitochondrion
MITOCHONDRIAL DNA DEPLETION SYNDROME 18	618811 C5394140 MONDO:0032932	SLC25A21	Causal	29517768	ClinVar, Disgenet, GWAS catalog, HPO	Lysine catabolism
MITOCHONDRIAL DNA DEPLETION SYNDROME 19	618972 C5436514 MONDO:0033545	SLC25A10	Causal	—	ClinVar, Disgenet, GenCC, HPO	Proximal tubule bicarbonate reclamation Sulfide oxidation to sulfate Organic anion transporters +1 more
MITOCHONDRIAL DNA DEPLETION SYNDROME 2	609560 C3149750 OMIM:609560	TK2	Unknown	—	CTD, Disgenet, HPO	Pyrimidine metabolism Drug metabolism - other enzymes Metabolic pathways +2 more
MITOCHONDRIAL DNA DEPLETION SYNDROME 20	C5676934 619780 MONDO:0030696	ASIC2	Unknown	—	Disgenet	Taste transduction Inflammatory mediator regulation of TRP channels Stimuli-sensing channels
MITOCHONDRIAL DNA DEPLETION SYNDROME 20	C5676934 619780 MONDO:0030696	LIG3	Unknown	32107856 33855352	CTD, ClinVar, Disgenet, HPO	Base excision repair Resolution of AP sites via the single-nucleotide replacement pathway APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway +3 more
MITOCHONDRIAL DNA DEPLETION SYNDROME 21	621071 MONDO:0976132	GUK1	Unknown	—	ClinVar, HPO	Purine metabolism Metabolic pathways Nucleotide metabolism +1 more
MITOCHONDRIAL DNA DEPLETION SYNDROME 3	251880 MONDO:0009636 OMIM:251880	DGUOK	Unknown	—	CTD, ClinVar, GenCC, HPO	Purine metabolism Metabolic pathways Nucleotide metabolism +1 more
MITOCHONDRIAL DNA DEPLETION SYNDROME 4A	MONDO:0008758 203700 OMIM:203700	POLG	Unknown	—	GenCC, CTD, HPO	Base excision repair
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B	C3150914 MONDO:0013350 613662 OMIM:613662	EDAR	Causal	—	Disgenet	Cytokine-cytokine receptor interaction NF-kappa B signaling pathway TNFs bind their physiological receptors
		POLG	Causal	27604308	ClinVar, CTD, Disgenet, HPO	Base excision repair
		FANCI	Unknown	—	Disgenet	Fanconi anemia pathway Fanconi Anemia Pathway TP53 Regulates Transcription of DNA Repair Genes
		POLGARF	Unknown	—	Disgenet	—
		RANBP2	Unknown	—	Disgenet	Nucleocytoplasmic transport Viral life cycle - HIV-1 Amyotrophic lateral sclerosis +32 more
MITOCHONDRIAL DNA DEPLETION SYNDROME 5	612073 OMIM:612073	SUCLA2	Unknown	—	CTD, HPO	Citrate cycle (TCA cycle) Propanoate metabolism Metabolic pathways +2 more
MITOCHONDRIAL DNA DEPLETION SYNDROME 6	256810 MONDO:0009747	MPV17	Unknown	16582910 18695062	CTD, ClinVar, HPO	Peroxisome Peroxisomal protein import
MITOCHONDRIAL DNA DEPLETION SYNDROME 7	271245 MONDO:0010060 OMIM:271245	TWNK	Unknown	16135556 17722119 18775955 21681116 25355836 26970254 27551684 27650058 31455392 32234020	CTD, GWAS catalog, HPO	Spinocerebellar ataxia Transcriptional activation of mitochondrial biogenesis
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A	MONDO:0012792 612075 C2749861 OMIM:612075	RRM2B	Causal	28482374 23968935 23107649 19616983 17486094	ClinVar, GWAS catalog, CTD, Disgenet, HPO	Purine metabolism Pyrimidine metabolism Glutathione metabolism +6 more
MITOCHONDRIAL DNA DEPLETION SYNDROME 8B	C3150172	RRM2B	Unknown	—	Disgenet	Purine metabolism Pyrimidine metabolism Glutathione metabolism +6 more
MITOCHONDRIAL DNA DEPLETION SYNDROME 9	MONDO:0009504 245400 C3151476 OMIM:245400	SUCLG1	Causal	27604308	ClinVar, GenCC, CTD, Disgenet, HPO	Citrate cycle (TCA cycle) Propanoate metabolism Metabolic pathways +2 more
MITOCHONDRIAL DNA DEPLETION SYNDROME HEPATOCEREBRORENAL FORM	C5190602	TWNK	Unknown	—	Disgenet	Spinocerebellar ataxia Transcriptional activation of mitochondrial biogenesis
MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH METHYLMALONIC ACIDURIA	1933 MONDO:0012791	SUCLA2	Causal	15877282 17287286 17301081 20301762 26475597	ClinVar, Disgenet, Orphanet	Citrate cycle (TCA cycle) Propanoate metabolism Metabolic pathways +2 more
MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH RENAL TUBULOPATHY	255235	RRM2B	Unknown	24741716	Orphanet	Purine metabolism Pyrimidine metabolism Glutathione metabolism +6 more
MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH VARIABLE CRANIOFACIAL ANOMALIES	369897	FBXL4	Unknown	23993193 23993194	Orphanet	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH METHYLMALONIC ACIDURIA, AUTOSOMAL RECESSIVE	C3501372	SUCLA2	Unknown	—	Disgenet	Citrate cycle (TCA cycle) Propanoate metabolism Metabolic pathways +2 more
MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE	C3711125	RRM2B	Unknown	—	Disgenet	Purine metabolism Pyrimidine metabolism Glutathione metabolism +6 more
	C3711125	TYMP	Unknown	—	Disgenet	Pyrimidine metabolism Drug metabolism - other enzymes Metabolic pathways +4 more
MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM DUE TO DGUOK DEFICIENCY	279934	DGUOK	Unknown	20301766	Orphanet	Purine metabolism Metabolic pathways Nucleotide metabolism +1 more
MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRORENAL FORM	363534 MONDO:0018197	TWNK	Unknown	23375728	GWAS catalog, Orphanet	Spinocerebellar ataxia Transcriptional activation of mitochondrial biogenesis
MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM	254875 C3501891 MONDO:0012301	TK2	Causal	23230576	ClinVar, Disgenet, GenCC, Orphanet	Pyrimidine metabolism Drug metabolism - other enzymes Metabolic pathways +2 more

Mitochondrial dna depletion syndrome

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