Leigh syndrome

Disease Term Disease ID Gene Symbol Classification References Source
LEIGH DISEASE
C0023264MESH:D007888
ECHS1 Unknown
25125611 26099313
CTD Disgenet
IARS2 Unknown — Disgenet
LRPPRC Unknown — Disgenet
ND3 Unknown — Disgenet
ND5 Unknown — Disgenet
ND6 Unknown — Disgenet
NDUFS2 Unknown — Disgenet
NDUFS3 Unknown
14729820
CTD Disgenet
NDUFS4 Unknown
11181577
CTD Disgenet
SDHA Unknown — Disgenet
SURF1 Unknown
16765830
CTD Disgenet
TACO1 Unknown
19503089
CTD Disgenet
LEIGH SYNDROME
MONDO:0009723506
BCS1L Causal
10508156 11528392 19162478 21274865 25613900 28427446
ClinGen GWAS catalog
COX15 Causal
11788607 12474143 15235026 21723506 25613900 26039449
ClinGen GWAS catalog
ECHS1 Causal
25125611 25393721 25613900 26000322 26099313 26251176 27977873 28409271 28755360 29575569
ClinGen GWAS catalog
FARS2 Causal
22499341 22833457 26553276 27095821 27549011 27977873 29126765
ClinGen GWAS catalog
FBXL4 Causal
23993193 23993194 25613900 25868664 27977873 31969900
ClinGen GWAS catalog
FOXRED1 Causal — ClinGen GenCC
IARS2 Causal
25130867 25613900 29980628 30041933 39169373
CTD ClinGen Orphanet
MRPS34 Causal
25613900 25816300 28777931
CTD ClinGen
MTFMT Causal
21907147 23499752 24461907 29980628 30087118 30911575
ClinGen HPO
NDUFAF2 Causal
16200211 18180188 19384974 20571988 20818383 23702311 25613900
ClinGen GWAS catalog
NDUFAF5 Causal
18940309 19542079 21607760 23536703 25613900 29581464 30473481
ClinGen GWAS catalog
NDUFAF6 Causal
18614015 22019594 25613900 26741492 27623250 28639102 29531337 30642748 31967322 32020600
ClinGen Orphanet
NDUFS1 Causal — ClinGen GenCC
NDUFS4 Causal — ClinGen GenCC
NDUFS7 Causal
10360771 15269216 17604671 22644603 27509854 30429455 30972103
ClinGen Disgenet
NDUFS8 Causal
15159508 19672299 20818383 21924235 22200994 23430795 27509854 29285794 9837812
ClinVar
NDUFV1 Causal
11349233 19672299 21696386 23266820 23334465 27344648 27509854 29976978 30090137 30972103
ClinVar
SDHA Causal — ClinGen GenCC
SURF1 Causal
10443880 10556302 22488715 25164807 27756633 29601977 29933018 9837813 9843204
ClinVar
TPK1 Causal
18853439 22152682 25458521 27896076 30483896 30789823 31095747 31127358 31288420
CTD ClinGen
VPS13D Causal
20301423 29307555 29518281 29604224
CTD ClinGen
ADAR Unknown
11099415 25613900 26275108 27977873 30692772 31772029
CTD ClinGen
AIFM1 Unknown
15526035 18309327 18791645 20362274 22019070 25934856 28299359 29531799 29780003
ClinGen GWAS catalog
ATP5MK Unknown
18853439 21345788 29917077 30240627 31127358
ClinGen GWAS catalog
BTD Unknown
18645204 21051254 21907891 25613900 27977873
ClinGen GWAS catalog
CLPB Unknown
25597510 25597511 25650066 31917998
CTD ClinGen
COQ9 Unknown
19375058 20495179 23255162 25613900 25802402 26081641 29560582
ClinGen Orphanet
COX10 Unknown — ClinVar