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	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 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 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 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	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 8B	C3150172	RRM2B	Unknown	—	Disgenet	Purine metabolism Pyrimidine metabolism Glutathione metabolism +6 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 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

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