Mitochondrial complex deficiency

Disease Term Disease ID Gene Symbol Classification References Source
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1
MONDO:0100224252010
FOXRED1 Causal
20818383 20858599 22200994 25525159 25678554 6257446
CTD
NDUFS4 Causal
10944442 11181577 16213125 19107570 22326555 24231806 29264396
ClinVar GWAS catalog HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
618233C4748768MONDO:0032616
NDUFAF2 Causal
18180188
ClinVar Disgenet HPO
ERCC8 Unknown — Disgenet
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11
618234C4748769MONDO:0032617
NDUFAF1 Causal
17557076 20818383 21931170 24963768
ClinVar Disgenet HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12
301020C4746984MONDO:0026720
NDUFA1 Causal — ClinVar Disgenet GenCC HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13
618235C4748770MONDO:0032618
NDUFA2 Causal
18513682 25590979 27159321 28857146 32154054
ClinVar Disgenet GWAS catalog HPO
TMCO6 Unknown — Disgenet
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14
618236C4748777MONDO:0032619
NDUFA11 Causal
18306244 26425740
ClinVar Disgenet HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15
618237C4748778MONDO:0032620
NDUFAF4 Unknown
18179882 22200994 26425749 28853723
ClinVar Disgenet HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16
618238C4748785MONDO:0032621
NDUFAF5 Causal — ClinVar Disgenet GenCC HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17
618239C4748786MONDO:0032622
NDUFAF6 Causal — ClinVar Disgenet GenCC HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
618240C4748790MONDO:0032623
NDUFAF3 Causal
19463981 26425749
ClinVar Disgenet HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19
618241C4748791MONDO:0032624
FOXRED1 Causal
20858599 10080174 17262856 23553477 20382551 22499348 12616398 15159508 11349233 11181577 21203893 9837812 10330338 19185523 16200211 15824269 10944442 20818383 9463323
ClinVar Disgenet GWAS catalog HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
618222C4748737MONDO:0032606
NDUFS8 Causal — ClinVar Disgenet GenCC HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
611126C4747517
ACAD9 Unknown — Disgenet HPO
CFAP92 Unknown — Disgenet
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21
618242C4748792MONDO:0032625
NUBPL Causal — ClinVar Disgenet GenCC HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22
618243C4748796MONDO:0032626
NDUFA10 Causal
21150889 22200994 26741492 28247337
ClinVar Disgenet GWAS catalog HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23
618244C4748799MONDO:0032627
NDUFA12 Causal
33715266 21617257
ClinVar Disgenet HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24
618245C4748803MONDO:0032628
NDUFB9 Causal — ClinVar Disgenet GenCC HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25
618246C4748806MONDO:0032629
NDUFB3 Causal
27091925 22277967 22499348
ClinVar Disgenet GWAS catalog HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26
618247C4748809MONDO:0032630
NDUFA9 Causal
21617257 22114105 28135719 28671271 5910587
ClinVar Disgenet HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27
618248C4748826MONDO:0032631
MTFMT Causal — ClinVar Disgenet HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28
618249C4748827MONDO:0032632
NDUFA13 Causal — ClinVar Disgenet GenCC HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29
618250C4748830MONDO:0032633
TMEM126B Causal
27374774 27374773
ClinVar Disgenet GWAS catalog HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3
618224C4748752MONDO:0032608
NDUFS7 Causal — ClinVar Disgenet GenCC HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30
301021C4746985MONDO:0026721
NDUFB11 Causal
27102574 27488349
ClinVar Disgenet GWAS catalog HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31
618251C4748838MONDO:0032634
TIMMDC1 Causal
28604674 30981218 33278652
ClinVar Disgenet GWAS catalog HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32
618252C4748839MONDO:0032635
NDUFB8 Causal
29429571
ClinVar Disgenet HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33
618253C4748840MONDO:0032636
NDUFA6 Causal
20818383 30245030
ClinVar Disgenet GWAS catalog HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34
618776C5394053MONDO:0032910
NDUFAF8 Causal
31866046
ClinVar Disgenet GWAS catalog HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35
C5436576619003
NARS1 Unknown — Disgenet
NDUFB10 Unknown — Disgenet HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36
619170C5436935MONDO:0030902
NDUFC2 Causal
32969598
CTD ClinVar Disgenet HPO
NDUFC2-KCTD14 Unknown — Disgenet
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37
619272C5543281MONDO:0030997
NDUFA8 Causal
15576045 20818383 27626380 32385911 33153867
ClinVar Disgenet GWAS catalog HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 39
620135C5774258MONDO:0859320
NDUFB7 Causal
33502047
ClinVar Disgenet GWAS catalog HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4
618225C4748753MONDO:0032609
NDUFV1 Causal — ClinVar Disgenet GenCC HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5
618226C4748754MONDO:0032610
NDUFS1 Causal — ClinVar Disgenet GenCC HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6
618228C4748759MONDO:0032611
NDUFS2 Causal
9585441 11220739 20819849 22036843 22142868
ClinVar Disgenet GWAS catalog HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7
618229C4748760MONDO:0032612
NDUFV2 Causal
12754703 1920150 21548921 26008862 28429146
ClinVar Disgenet GWAS catalog HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
618230C4748766MONDO:0032613
NDUFS3 Causal
14729820 19167255 22499248 24028823 30140060
ClinVar Disgenet HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9
618232C4748767MONDO:0032615
NDUFS6 Causal
107932 15372108 19259137 21364701 22200994 30948790
CTD ClinVar Disgenet HPO
MRPL36 Unknown — Disgenet
MITOCHONDRIAL COMPLEX II DEFICIENCY
C1855008MESH:C565375MONDO:0009641
SDHA Unknown
22972948
CTD Disgenet GWAS catalog
SDHAF1 Unknown — Disgenet GenCC
SDHB Unknown
22972948
Disgenet GenCC
SDHD Unknown — Disgenet GenCC
MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1
252011C5700310MONDO:0100294
SDHA Causal — ClinVar Disgenet GenCC HPO