Leigh syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
LEIGH SYNDROME
MONDO:0009723
NDUFAF4 Unknown
18179882 23670274 25613900 28853723
ClinGen, GWAS catalog
NDUFAF8 Unknown
27499296 31866046
ClinGen, GWAS catalog
NDUFB8 Unknown
27509854 27626371 29429571 31127358
ClinGen, GWAS catalog
NDUFC2 Unknown
27509854 27626371 32969598
ClinGen, GenCC
NDUFV2 Unknown
26008862 27509854
CTD, ClinGen
NUBPL Unknown
19752196 20818383 22826544 23553477 25613900 29982452 30897263 31917109
ClinGen, Orphanet
NUP62 Unknown — ClinGen
OPA1 Unknown
17428816 18853439 28442211 28494813 33092941
ClinGen, GWAS catalog
PDHA1 Unknown
19924563 20002461 21914562 23840713 28918066 8498846 8664900 9187674
ClinGen, GWAS catalog
PDHB Unknown
19924563 21914562 25356417 25613900 27977873 29501567 31127358
ClinGen, GWAS catalog
PDHX Unknown
12557299 14518830 15303005 16566017 21139605 25087164 27977873
ClinGen, Disgenet
PDSS2 Unknown
10972372 17186472 18437205 21139605 21983691 23150520 27977873 29967258
ClinGen, Disgenet
PET100 Unknown
24462369 25293719 25613900 8702496
ClinGen, GWAS catalog —
PET117 Unknown
25613900 27998984 28386624
ClinGen, GWAS catalog —
PNPT1 Unknown
20691904 23084291 27759031 28645153 30046113
ClinGen, GWAS catalog
POLG Unknown
16464011 16957900 18828154 25613900 26519465
ClinGen, Disgenet
PTCD3 Unknown
19427859 25613900 30607703
ClinGen, GWAS catalog
RANBP2 Unknown
17887960 18853439 26110162
CTD, ClinGen
RNASEH1 Unknown
12667461 26094573 28215579 31271879
ClinGen, Disgenet
SCO1 Unknown — ClinVar
SCO2 Unknown
10545952 11673586 15229189 16083427 18924171 19837698 20159436
CTD, ClinGen, ClinVar
SDHAF1 Unknown
19465911 22995659 26749241
ClinGen, GWAS catalog —
SERAC1 Unknown
22683713 23707711 23918762 29205472
ClinGen, GWAS catalog —
SLC19A3 Unknown
19879271 23423671 23469184 23482991 23589815 24166474 24878502 26975589 27191787 27896110
ClinGen, GWAS catalog
SLC25A19 Unknown
17035501 18280798 19798730 28856750 31295743 31506564
ClinGen, Disgenet
SLC25A4 Unknown
25613900 27693233 27977873 31271879
ClinGen, Disgenet
SLC25A46 Unknown
25613900 26168012 26951855 27390132 28376083 28376086 28934388
ClinGen, GWAS catalog —
SLC39A8 Unknown
22563477 25613900 27995398 29453449
CTD, ClinGen
SQOR Unknown
22067608 27977873 32160317
ClinGen, Disgenet
SSBP1 Unknown
25613900 27977873 31479473 31550240
ClinGen, GWAS catalog
SUCLA2 Unknown
15877282 17287286 17301081 23010432 23385875 23759946 24319143 25582465 25613900 26475597 26952923 27913098 28769029
ClinGen, Disgenet
SUCLG1 Unknown
17668387 19526370 20197121 20453710 20693550 25613900 27484306 29217198 9128182
ClinGen, GWAS catalog
TARS2 Unknown
24827421 25613900 27977873 33153448
CTD, ClinGen
TIMMDC1 Unknown
24344204 25613900 28604674
ClinGen, GWAS catalog
TRMU Unknown
25058219 27689697 29980628 30369941 33365252
ClinGen, GWAS catalog —
TSFM Unknown
17033963 25037205 25613900 27677415 27977873 30297209
ClinGen, Disgenet —
TTC19 Unknown
21278747 24397319 25452764 25613900 25772319 25887401 28673544 29961508
ClinGen, GWAS catalog —
UQCRQ Unknown
18439546 25613900 32412666 34684815 34733232
ClinGen
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
C1838951
ND2 Unknown
9270604 12796552 9501263 17352390 17152068 25118196 11938446 26095671 14595656 17400793 10746566 9556461 18828154 16996290 8395787 7550341 24781757
Disgenet
LEIGH SYNDROME WITH CARDIOMYOPATHY
MONDO:0019083
NDUFAF3 Unknown
27986404
Disgenet
NDUFB8 Unknown
29429571
GWAS catalog, ClinGen
LEIGH SYNDROME WITH LEUKODYSTROPHY
MONDO:0016815
COX15 Unknown
15235026 15863660
GWAS catalog, ClinGen
FOXRED1 Unknown
20818383 22644603
GWAS catalog, ClinGen —
MTFMT Unknown
22499348 23499752 24461907
Disgenet, ClinGen
NDUFAF2 Unknown
20818383 22644603
Disgenet, ClinGen
NDUFAF5 Unknown
19542079 22644603
GWAS catalog, ClinGen
NDUFAF6 Unknown
18614015 22644603
GenCC, ClinGen
NDUFS1 Unknown
15824269 22644603
Disgenet, ClinGen
NDUFS7 Unknown
17275378 17604671 22644603
GWAS catalog, ClinGen
NDUFS8 Unknown
15159508 22499348 22644603
Disgenet, ClinGen
NDUFV1 Unknown
21696386 22644603 23266820
GWAS catalog, ClinGen
NDUFV2 Unknown
26008862
GWAS catalog, ClinGen
PDHA1 Unknown
8498846 15384102 20002461
CTD, ClinGen
PET100 Unknown
24462369
GWAS catalog, ClinGen —
SLC19A3 Unknown
23423671
Disgenet, ClinGen
LEIGH SYNDROME WITH NEPHROTIC SYNDROME
MONDO:0016816
PDSS2 Unknown
17186472 20301352
Disgenet, ClinGen
All107 Causal21 Unknown101
Related Diseases Diseases that share the most curated genes with Leigh syndrome.
5 View disease cluster →
Mitochondrial complex deficiency 48 shared genesNDUFA10, NDUFA12, NDUFA9, NDUFAF2, NDUFAF6, ND2, NDUFS3, NDUFS2, TTC19, LRPPRC, NDUFA2, TIMMDC1 +36 more Related via 48 shared genes including NDUFA10, NDUFA12, NDUFA9. Mitochondrial disease 72 shared genesHIBCH, TRMU, IARS2, MTRFR, NARS2, NDUFA10, NDUFA12, NDUFA9, NDUFAF2, NDUFAF6, ND2, NDUFS3 +60 more Related via 72 shared genes including HIBCH, TRMU, IARS2. Mitochondrial encephalomyopathy 11 shared genesMTRFR, FARS2, NDUFS2, POLG, DNM1L, SCO2, NDUFV2, LONP1, FBXL4, FOXRED1, MFF Related via 11 shared genes including MTRFR, FARS2, NDUFS2. Cytochrome c oxidase deficiency 11 shared genesLRPPRC, SCO2, SCO1, COX15, SURF1, PET100, COX10, TACO1, COX4I1, COX8A, PET117 Related via 11 shared genes including LRPPRC, SCO2, SCO1. Combined oxidative phosphorylation deficiency 14 shared genesMTRFR, NARS2, PNPT1, EARS2, FARS2, AIFM1, TSFM, MTFMT, TARS2, GTPBP3, GFM2, GFM1 +2 more Related via 14 shared genes including MTRFR, NARS2, PNPT1.