Disease Term Disease ID Gene Symbol Classification References Source
Duane Retraction Syndrome, Type 2 C0751083 CHN1 Causal Pathogenic evidence from ClinVar 18653847 ClinVar
MAFB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27181683 -
SALL4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16402211, 30067223 -
Duane Retraction Syndrome, Type 3 C0751084 CHN1 Causal Pathogenic evidence from ClinVar - ClinVar
MAFB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SALL4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16402211, 30067223 -