Hereditary leber optic atrophy

Disease Term Disease ID Gene Symbol Classification References Source
Optic Atrophy, Hereditary, Leber C0917796 NDUFS2 Causal Pathogenic evidence from ClinVar 28031252 ClinVar
ATP6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7726182 -
COX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1322638 -
COX3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8240356 -
CPLX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CYTB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1732158 -
IL1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7979221 -
IL1B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7979221 -
LRAT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16250670, 17011878 -
ND1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1417830, 1674640, 1900003, 1928099, 1959619, 2018041, 11479733, 12112111, 15342361, 15505787, 15972314, 19497304, 19555656, 22879922, 24569607, 24884847, 25194554, 27449621, 29991444 -
ND2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1732158, 1900003 -
ND4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1937476, 1959619, 1959931, 3201231, 9452107, 12707444, 15342361, 16120329, 24569607 -
ND4L Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8680405, 11935318 -
ND5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1732158, 1900003, 8213825, 12736867, 16240359, 16816025, 18332249, 27164671 -
ND6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1417830, 8470982, 8854108, 9452107, 10447650, 11133798, 15342361, 24569607 -
RPE65 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16828753, 17011878 -
TBC1D24 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -