Leigh syndrome

Disease Term Disease ID Gene Symbol Classification References Source
LEIGH SYNDROME
MONDO:0009723
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
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
TACO1 Unknown
19503089 25044680 27319982
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 , FRENCH CANADIAN TYPE
C1857355MESH:C537004
LRPPRC Unknown
12529507
CTD Disgenet
SURF1 Unknown
16326995
CTD Disgenet
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
C1838951
ND2 Unknown — Disgenet
ND5 Unknown — Disgenet
ND6 Unknown — Disgenet
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY
C1850599
SURF1 Causal — Disgenet
LEIGH SYNDROME WITH CARDIOMYOPATHY
MONDO:0019083
NDUFAF3 Unknown
27986404
Disgenet
NDUFB8 Unknown
29429571
GWAS catalog
NDUFS2 Unknown
22036843
GenCC
SURF1 Unknown
23829769
GenCC
LEIGH SYNDROME WITH LEUKODYSTROPHY
MONDO:0016815
COX15 Unknown
15235026 15863660
GWAS catalog
COXFA4 Unknown
23746447
CTD
ECHS1 Unknown
25393721
GWAS catalog
FOXRED1 Unknown
20818383 22644603
GWAS catalog
LIPT1 Unknown
24341803
-
MTFMT Unknown
22499348 23499752 24461907
Disgenet
NDUFA10 Unknown
21150889 22644603
GWAS catalog
NDUFA12 Unknown
21617257 22644603
GWAS catalog
NDUFA13 Unknown
25901006
GWAS catalog
NDUFA2 Unknown
18513682 22644603
CTD
NDUFA9 Unknown
22114105
GWAS catalog
NDUFAF2 Unknown
20818383 22644603
Disgenet