Mitochondrial complex deficiency

Disease Term Disease ID Gene Symbol Classification References Source
MITOCHONDRIAL COMPLEX 1 DEFICIENCY, NUCLEAR TYPE 35
MONDO:0033560
NDUFB10 Causal
28040730
ClinVar Disgenet
MITOCHONDRIAL COMPLEX 2 DEFICIENCY, NUCLEAR TYPE 2
MONDO:0030935
SDHAF1 Causal — ClinVar GenCC
MITOCHONDRIAL COMPLEX 2 DEFICIENCY, NUCLEAR TYPE 3
MONDO:0030937
SDHD Causal — ClinVar GenCC
MITOCHONDRIAL COMPLEX 2 DEFICIENCY, NUCLEAR TYPE 4
MONDO:0030974
SDHB Causal
22972948 26642834 26925370 27604842
ClinVar Orphanet
MITOCHONDRIAL COMPLEX 5 DEFICIENCY, NUCLEAR TYPE 6
MONDO:0032869
ATP5MK Unknown — ClinVar
MITOCHONDRIAL COMPLEX I DEFICIENCY
C1838979MONDO:0100133MESH:C537475
ACAD9 Causal — Disgenet
FOXRED1 Causal
20858599
Disgenet HPO
NDUFA13 Causal — Disgenet
NDUFAF4 Causal
18179882 22644603
Disgenet GWAS catalog
NDUFAF5 Causal
18940309 22644603
Disgenet GWAS catalog
NDUFB10 Causal
28040730
Disgenet GWAS catalog
NDUFB3 Causal
22277967 22499348
CTD Disgenet
NDUFS4 Causal
9463323 22644603
CTD Disgenet GWAS catalog
NDUFV1 Causal
22644603
Disgenet
NUBPL Causal
20818383 22644603 23553477
Disgenet GWAS catalog
SLC25A10 Causal — Disgenet
TMEM126B Causal
27374773 27374774
Disgenet GWAS catalog
AMACR Unknown — Disgenet
CFAP92 Unknown — Disgenet
ERCC8 Unknown — Disgenet
MRPL36 Unknown — Disgenet
ND1 Unknown — Disgenet
ND2 Unknown — Disgenet
ND3 Unknown — Disgenet
ND4 Unknown — Disgenet
NDUFA1 Unknown
17262856 19185523 21596602 22644603
Disgenet
NDUFA10 Unknown — Disgenet
NDUFA11 Unknown
18306244 22644603
Disgenet GWAS catalog
NDUFA2 Unknown — Disgenet
NDUFA6 Unknown
30245030
Disgenet Orphanet
NDUFAF1 Unknown
17557076
Disgenet
NDUFAF2 Unknown
16200211
Disgenet GWAS catalog
NDUFAF3 Unknown
19463981 22644603
Disgenet
NDUFAF8 Unknown
31866046
Disgenet GWAS catalog
NDUFB11 Unknown — Disgenet
NDUFB9 Unknown
22200994
Disgenet GWAS catalog
NDUFS1 Unknown
20382551 22644603
CTD Disgenet
NDUFS2 Unknown
15576045 22644603
Disgenet GWAS catalog
NDUFS3 Unknown
22499348
Disgenet GenCC
NDUFS6 Unknown
15372108 19259137 22644603
Disgenet GenCC
NDUFS7 Unknown
22644603
Disgenet GWAS catalog
NDUFS8 Unknown
22499348 22644603
Disgenet GenCC
NDUFV2 Unknown
12754703 22644603 26008862
Disgenet GWAS catalog
SLC35G2 Unknown — Disgenet GenCC
TCIRG1 Unknown — Disgenet
TIMMDC1 Unknown
28604674
Disgenet GWAS catalog
TMCO6 Unknown — Disgenet
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
C4746992
ND3 Unknown — Disgenet
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE
MONDO:0009640
NDUFS4 Unknown — GenCC
NDUFS6 Unknown
15372108 19259137 22474353 23320803 25902503 27290639
CTD