Neuroaxonal dystrophy

Disease Term Disease ID Gene Symbol Classification References Source
Infantile neuroaxonal dystrophy 35069 PLA2G6 Causal Pathogenic evidence from ClinVar - ClinVar
Infantile Neuroaxonal Dystrophy C0270724 PLA2G6 Causal Pathogenic evidence from ClinVar 16783378, 17033970, 18359254, 18570303, 18799783, 19138334, 19893029, 20584031, 20619503, 20669327, 20886109, 20947703, 22934738, 23749988, 24108619, 24745848, 25164370, 25326637, 26196026, 26668131, 27268037, 27378808, 28821231, 29903433, 30772976 ClinVar
NAGA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2243144 -
TECPR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26555167 -
Adult Neuroaxonal Dystrophy C0751716 NAGA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2243144 -
TECPR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26555167 -
Juvenile Neuroaxonal Dystrophy C0751717 NAGA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2243144 -
TECPR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26555167 -
Late Infantile Neuroaxonal Dystrophy C0751718 NAGA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2243144 -
TECPR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26555167 -
Neuroaxonal Dystrophies C0338473 NAGA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2243144 -
TECPR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26555167 -