Optic atrophy

Disease Term Disease ID Gene Symbol Classification References Source
Autosomal recessive isolated optic atrophy 98676 ACO2 Causal Pathogenic evidence from ClinVar - ClinVar
RTN4IP1 Causal Pathogenic evidence from ClinVar - ClinVar
YME1L1 Causal Pathogenic evidence from ClinVar - ClinVar
Optic Atrophy C0029124 ACO2 Causal Pathogenic evidence from ClinVar - ClinVar
AFG3L2 Causal Pathogenic evidence from ClinVar - ClinVar
DNM1L Causal Pathogenic evidence from ClinVar 17460227 ClinVar
OPA1 Causal Pathogenic evidence from ClinVar - ClinVar
OPA3 Causal Pathogenic evidence from ClinVar - ClinVar
SPG7 Causal Pathogenic evidence from ClinVar - ClinVar
TMEM126A Causal Pathogenic evidence from ClinVar - ClinVar
WFS1 Causal Pathogenic evidence from ClinVar - ClinVar
YME1L1 Causal Pathogenic evidence from ClinVar - ClinVar
AAAS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AARS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ABCA4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ABHD12 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24697911, 29571850 -
ACOX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ACTL6B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ADAM22 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ADAR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AGBL5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AGXT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AHI1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AHR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ALG13 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ALG3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AMPD2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ANTXR1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AP3B2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ARHGEF18 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ARL2BP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ARL3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ARL6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ARSA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ARV1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ARVCF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ARX Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ASPA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ATAD3A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27640307 -
OPTIC ATROPHY 9 C4225384 ACO2 Causal Pathogenic evidence from ClinVar 22405087, 25351951 ClinVar
Autosomal dominant optic atrophy, classic form 98673 DNM1L Causal Pathogenic evidence from ClinVar - ClinVar
OPA1 Causal Pathogenic evidence from ClinVar - ClinVar
Optic Atrophy 1 C0338508 DNM1L Causal Pathogenic evidence from ClinVar 28969390 ClinVar
OPA1 Causal Pathogenic evidence from ClinVar 9917792, 11017079, 11017080, 11440988, 11440989, 11810270, 12036970, 12566046, 14961560, 15948788, 16513463, 16617242, 18204809, 18360822, 19319978, 19325939, 19900585, 19969356, 20185555, 22382025, 22857269, 23384603, 23401657, 23409176, 27604308 ClinVar
OPA3 Causal Pathogenic evidence from ClinVar 26190011 ClinVar
OPTIC ATROPHY 5 (disorder) C1853139 DNM1L Causal Pathogenic evidence from ClinVar 17460227, 27145208, 28969390 ClinVar
OPTIC ATROPHY 1 AND DEAFNESS C1852267 OPA1 Causal Pathogenic evidence from ClinVar - ClinVar
Autosomal recessive optic atrophy, OPA7 type 227976 TMEM126A Causal Pathogenic evidence from ClinVar - ClinVar
OPTIC ATROPHY 7 (disorder) C2751812 TMEM126A Causal Pathogenic evidence from ClinVar 19327736, 22815638, 31119195 ClinVar
OPTIC ATROPHY 11 C4310628 YME1L1 Causal Pathogenic evidence from ClinVar 27495975, 30544562 ClinVar