Duane-radial ray syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Acro-renal-ocular syndrome 959 SALL4 Causal Pathogenic evidence from ClinVar - ClinVar
Okihiro Syndrome C1623209 SALL4 Causal Pathogenic evidence from ClinVar 6426304, 12393809, 12395297, 12843316, 16086360, 16402211, 26791099, 30067223 ClinVar
CHN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MAFB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Okihiro syndrome due to 20q13 microdeletion 261638 SALL4 Causal Pathogenic evidence from ClinVar - ClinVar
Okihiro syndrome due to a point mutation 261647 SALL4 Causal Pathogenic evidence from ClinVar - ClinVar