Disease Term Disease ID Gene Symbol Classification References Source
Adams Oliver syndrome C0265268 ARHGAP31 Causal Pathogenic evidence from ClinVar 21565291 ClinVar
DLL4 Causal Pathogenic evidence from ClinVar 26299364 ClinVar
DOCK6 Causal Pathogenic evidence from ClinVar 21820096 ClinVar
EOGT Causal Pathogenic evidence from ClinVar 23522784 ClinVar
NOTCH1 Causal Pathogenic evidence from ClinVar 25132448 ClinVar
RBPJ Causal Pathogenic evidence from ClinVar 22883147 ClinVar
Adams-Oliver syndrome 974 ARHGAP31 Causal Pathogenic evidence from ClinVar - ClinVar
DLL4 Causal Pathogenic evidence from ClinVar - ClinVar
DOCK6 Causal Pathogenic evidence from ClinVar - ClinVar
EOGT Causal Pathogenic evidence from ClinVar - ClinVar
NOTCH1 Causal Pathogenic evidence from ClinVar - ClinVar
RBPJ Causal Pathogenic evidence from ClinVar - ClinVar
Adams-Oliver syndrome 1 C4551482 ARHGAP31 Causal Pathogenic evidence from ClinVar 474617, 21565291, 28160419, 29924900 ClinVar
DLL4 Causal Pathogenic evidence from ClinVar - ClinVar
DOCK6 Causal Pathogenic evidence from ClinVar 26457590, 29924900 ClinVar
EOGT Causal Pathogenic evidence from ClinVar 23522784 ClinVar
NOTCH1 Causal Pathogenic evidence from ClinVar 25132448 ClinVar
RBPJ Causal Pathogenic evidence from ClinVar 22883147, 28160419 ClinVar
ADAMS-OLIVER SYNDROME 6 C4225271 DLL4 Causal Pathogenic evidence from ClinVar 26299364, 29924900 ClinVar
ADAMS-OLIVER SYNDROME 2 C3280182 DOCK6 Causal Pathogenic evidence from ClinVar 21820096, 23522784, 25824905 ClinVar
ADAMS-OLIVER SYNDROME 4 C3809092 EOGT Causal Pathogenic evidence from ClinVar 23522784, 23860037, 29924900 ClinVar
ADAMS-OLIVER SYNDROME 5 C4014970 NOTCH1 Causal Pathogenic evidence from ClinVar 25132448, 25963545, 29924900 ClinVar
ADAMS-OLIVER SYNDROME 3 C3553748 RBPJ Causal Pathogenic evidence from ClinVar 22883147, 28160419, 29924900 ClinVar