Leber hereditary optic neuropathy

Disease Term Disease ID Gene Symbol Classification References Source
LEBER HEREDITARY OPTIC NEUROPATHY
104MONDO:0010788
DNAJC30 Unknown
33465056
CTD Orphanet
NDUFS2 Unknown
28031252
GWAS catalog Orphanet
LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE
MONDO:0030309
DNAJC30 Causal
33465056
GWAS catalog
LEBER OPTIC ATROPHY AND DYSTONIA
C1839040
ND1 Unknown — Disgenet
ND3 Unknown — Disgenet
ND4 Unknown — Disgenet
ND5 Unknown — Disgenet
ND6 Unknown — Disgenet
LEBER OPTIC ATROPHY, SUSCEPTIBILITY TO
MONDO:0010640
PRICKLE3 Unknown — ClinVar
LEBER PLUS DISEASE
C4304725
NDUFAF5 Causal — Disgenet
ND3 Unknown — Disgenet
ND4 Unknown — Disgenet
ND6 Unknown — Disgenet
LEBER-LIKE HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE 1
619382C5543589MONDO:0958183
DNAJC30 Causal — ClinVar Disgenet HPO
LEBER-LIKE HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE 2
620569C5882713MONDO:0958197
NDUFS2 Causal — ClinVar Disgenet HPO
OPTIC ATROPHY, HEREDITARY, LEBER
C0917796MESH:D029242
ATP6 Unknown — CTD Disgenet
ATP8 Unknown — Disgenet
COX1 Unknown — Disgenet
COX2 Unknown — Disgenet
COX3 Unknown — CTD Disgenet
CYTB Unknown — CTD Disgenet
DNAJC30 Unknown — Disgenet
EPHX1 Unknown — Disgenet
IL1A Unknown
7979221
CTD Disgenet
IL1B Unknown
7979221
CTD Disgenet
LRAT Unknown
16250670 17011878
CTD Disgenet
ND1 Unknown
15342361 15505787 24569607 27449621 29991444
CTD Disgenet
ND2 Unknown — CTD Disgenet
ND3 Unknown — Disgenet
ND4 Unknown
15342361 24569607
CTD Disgenet
ND4L Unknown — CTD Disgenet
ND5 Unknown
31669237
CTD Disgenet
ND6 Unknown
15342361 24569607 31669237
CTD Disgenet
NDUFS2 Unknown — Disgenet
PARL Unknown — Disgenet
PRICKLE3 Unknown — CTD Disgenet
RDH12 Unknown — Disgenet
RP1 Unknown — Disgenet
RPE65 Unknown
16828753 17011878
CTD Disgenet
RPGRIP1 Unknown — Disgenet
SOD2 Unknown — Disgenet
TP53 Unknown — Disgenet