Multiple synostoses syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Multiple synostoses syndrome 3237 FGF9 Causal Pathogenic evidence from ClinVar - ClinVar
GDF5 Causal Pathogenic evidence from ClinVar - ClinVar
NOG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Multiple synostoses syndrome 1 C0342282 FGF9 Causal Pathogenic evidence from ClinVar 19589401 ClinVar
GDF5 Causal Pathogenic evidence from ClinVar 16532400 ClinVar
NOG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10080184, 17668388, 20503332, 25241334 -
Multiple Synostoses Syndrome 3 C2751826 FGF9 Causal Pathogenic evidence from ClinVar 19589401 ClinVar
Multiple synostosis syndrome C0175700 FGF9 Causal Pathogenic evidence from ClinVar 19589401 ClinVar
GDF5 Causal Pathogenic evidence from ClinVar 16532400 ClinVar
NOG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20503332, 25241334 -
MULTIPLE SYNOSTOSES SYNDROME 2 C1832708 GDF5 Causal Pathogenic evidence from ClinVar 2703235, 16532400, 19956691, 21976273, 24098149 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 - -
MULTIPLE SYNOSTOSES SYNDROME 4 C4693531 GDF6 Causal Pathogenic evidence from ClinVar 18425797, 26643732, 29130651 ClinVar