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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
MITOCHONDRIAL COMPLEX III DEFICIENCY UQCRFS1 Unknown CTD, Disgenet
UQCRH Unknown — Disgenet
UQCRQ Unknown CTD, Disgenet
MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 4 UQCRQ Unknown — ClinVar, GenCC
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 NCOR1 Unknown — Disgenet
UQCRQ Unknown — Disgenet
ZSWIM7 Unknown — Disgenet —
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 11 UQCRH Unknown — ClinVar, Disgenet, GenCC, HPO
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 NCOR1 Unknown — Disgenet
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 UQCRQ Unknown — Disgenet, HPO
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 PDZD9 Unknown — Disgenet —
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 LBHD1 Unknown — Disgenet —
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 COA3 Unknown — Disgenet
COX1 Unknown — Disgenet
COX15 Unknown — ClinVar, Disgenet
COX18 Unknown — Disgenet
COX2 Unknown — Disgenet
COX3 Unknown — Disgenet
COXFA4 Unknown — GenCC —
CUTC Unknown — Disgenet —
ENTPD7 Unknown — Disgenet
NCAPH2 Unknown — Disgenet
NDUFA4 Unknown — Disgenet
SCO2 Unknown — ClinVar, Disgenet
STXBP2 Unknown — Disgenet
TYMP Unknown — Disgenet
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 STXBP2 Unknown — Disgenet
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 13 COA6 Unknown — Disgenet, HPO
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14 COA3 Unknown ClinVar, Disgenet, GWAS catalog, HPO
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 COX8A Unknown — ClinVar, Disgenet, GenCC, HPO
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 KAT14 Unknown — Disgenet —
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 COA5 Unknown — Disgenet
COA6 Unknown — Disgenet
COX15 Unknown — Disgenet
NCAPH2 Unknown — Disgenet
SCO2 Unknown — Disgenet, HPO
TYMP Unknown — Disgenet
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21 NDUFA4 Unknown — Disgenet
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 SYNJ2BP-COX16 Unknown — Disgenet —
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 LRPPRC Unknown — HPO
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6 COX15 Unknown — HPO
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 9 COA5 Unknown — Disgenet, HPO
MITOCHONDRIAL COMPLEX V DEFICIENCY, MITOCHONDRIAL TYPE 1 ATP6 Unknown — Disgenet
ATP8 Unknown — Disgenet
COX1 Unknown — Disgenet
COX2 Unknown — Disgenet
COX3 Unknown — Disgenet
ND4L Unknown — Disgenet
ND5 Unknown — Disgenet
MITOCHONDRIAL COMPLEX V DEFICIENCY, NUCLEAR TYPE 1 ATPAF2 Unknown — CTD, ClinVar, Disgenet, GenCC, HPO —
MITOCHONDRIAL COMPLEX V DEFICIENCY, NUCLEAR TYPE 2 TMEM70 Unknown CTD, ClinVar, GWAS catalog, HPO —
MITOCHONDRIAL COMPLEX V DEFICIENCY, NUCLEAR TYPE 3 ATP5F1E Unknown — CTD, ClinVar, Disgenet, GenCC, HPO
MITOCHONDRIAL COMPLEX V DEFICIENCY, NUCLEAR TYPE 4A ATP5F1A Unknown ClinVar, Disgenet, GWAS catalog, HPO
MITOCHONDRIAL COMPLEX V DEFICIENCY, NUCLEAR TYPE 4B ATP5F1A Unknown CTD, ClinVar, Disgenet, GWAS catalog, HPO
MITOCHONDRIAL COMPLEX V DEFICIENCY, NUCLEAR TYPE 5 ATP5F1D Unknown ClinVar, Disgenet, GWAS catalog, HPO
ND5 Unknown — Disgenet
NDUFV1 Unknown — Disgenet
MITOCHONDRIAL COMPLEX V DEFICIENCY, NUCLEAR TYPE 7 ATP5PO Unknown — ClinVar, Disgenet, HPO
All119 Causal69 Unknown88