Symphalangism

Disease Term Disease ID Gene Symbol Classification References Source
SYMPHALANGISM, PROXIMAL, 1A C3714899 GDF5 Causal Pathogenic evidence from ClinVar 2703235 ClinVar
NOG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10080184, 11846737, 11857750, 15770128, 17668388 -
SYMPHALANGISM, PROXIMAL, 1B C3809104 GDF5 Causal Pathogenic evidence from ClinVar 16127465, 16892395, 18283415 ClinVar
DMP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GDF5-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -