Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1	C5700310 MONDO:0100294	SDHAF1	Causal	19465911 22995659 23322652 26642834 26749241	Disgenet GWAS catalog
		SDHD	Causal	19584903 21348866 24367056 26008905 34012134 35060925	Disgenet GWAS catalog
		SDHB	Unknown	—	Disgenet
MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2	619166 C5436933	SDHAF1	Unknown	—	Disgenet HPO
MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3	619167 C5436934	SDHD	Unknown	—	Disgenet HPO
MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4	619224 C5543176	SDHB	Unknown	—	Disgenet HPO
MITOCHONDRIAL COMPLEX III DEFICIENCY	C1852372 MONDO:0015448 MESH:C565128	BCS1L	Unknown	17403714 19162478 25914718	Disgenet GWAS catalog
		CYC1	Unknown	23910460 25914718	CTD Disgenet GWAS catalog
		CYTB	Unknown	—	Disgenet
		LYRM7	Unknown	24014394 25914718	CTD Disgenet
		TTC19	Unknown	21278747 25914718	CTD Disgenet
		UQCC2	Unknown	24385928 25914718	CTD Disgenet GWAS catalog
		UQCC3	Unknown	25008109 25914718	CTD Disgenet GWAS catalog
		UQCRB	Unknown	12709789 25914718	CTD ClinVar Disgenet
		UQCRC2	Unknown	23281071 25914718	CTD Disgenet GWAS catalog
		UQCRFS1	Unknown	32001716	CTD Disgenet
		UQCRH	Unknown	—	Disgenet
		UQCRQ	Unknown	18439546 25914718	CTD Disgenet
MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 1	MONDO:0007415	BCS1L	Causal	—	ClinVar GenCC
MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 2	MONDO:0014063	TTC19	Causal	—	ClinVar GenCC
MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 3	MONDO:0014064	UQCRB	Unknown	—	ClinVar GenCC
MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 4	MONDO:0014065	UQCRQ	Unknown	—	ClinVar GenCC
MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 5	MONDO:0014066	UQCRC2	Causal	23281071 28275242	ClinVar Disgenet
MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 6	MONDO:0014194	CYC1	Causal	23910460	ClinVar GWAS catalog
MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 7	MONDO:0014356	UQCC2	Causal	24385928 28804536	CTD ClinVar
MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 8	MONDO:0014364	LYRM7	Causal	24014394 26912632 27151179 29353736 30831263	ClinVar GWAS catalog
MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 9	MONDO:0014496	UQCC3	Causal	—	ClinVar
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1	124000 C3541471 OMIM:124000	BCS1L	Unknown	—	CTD Disgenet HPO
		CYC1	Unknown	—	Disgenet
		LYRM7	Unknown	—	Disgenet
		NCOR1	Unknown	—	Disgenet
		TTC19	Unknown	—	Disgenet
		UQCC2	Unknown	—	Disgenet
		UQCC3	Unknown	—	Disgenet
		UQCRB	Unknown	—	Disgenet
		UQCRC2	Unknown	—	Disgenet
		UQCRQ	Unknown	—	Disgenet
		ZSWIM7	Unknown	—	Disgenet
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10	618775 C5394051 MONDO:0032909	UQCRFS1	Causal	—	ClinVar Disgenet GenCC HPO
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 11	620137 C5774259 MONDO:0859321	UQCRH	Unknown	—	ClinVar Disgenet GenCC HPO
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2	C3554605 615157	NCOR1	Unknown	—	Disgenet
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2	C3554605 615157	TTC19	Unknown	—	Disgenet HPO
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3	615158 C3554606	UQCRB	Unknown	—	Disgenet HPO
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4	615159 C3554607	UQCRQ	Unknown	—	Disgenet HPO
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5	C3554608 615160	PDZD9	Unknown	—	Disgenet
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5	C3554608 615160	UQCRC2	Unknown	—	Disgenet HPO
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6	615453 C3809553	CYC1	Unknown	—	Disgenet HPO
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7	615824 C4014408	UQCC2	Unknown	—	Disgenet HPO
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8	615838 C4014440	LYRM7	Unknown	—	Disgenet HPO
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9	C4015253	LBHD1	Unknown	—	Disgenet

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Mitochondrial complex deficiency