Coffin-siris syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Coffin-Siris syndrome 1465, C0265338 ARID1A Causal Pathogenic evidence from ClinVar 22426308 ClinVar
ARID1B Causal Pathogenic evidence from ClinVar 22426308, 22426309, 23906836, 25294932, 26340334, 29184203, 31628733 ClinVar
ARID2 Causal Pathogenic evidence from ClinVar 28124119 ClinVar
DPF2 Causal Pathogenic evidence from ClinVar 29429572 ClinVar
SMARCB1 Causal Pathogenic evidence from ClinVar 22426308 ClinVar
SMARCC2 Causal Pathogenic evidence from ClinVar 30580808 ClinVar
SMARCD1 Causal Pathogenic evidence from ClinVar - ClinVar
SMARCE1 Causal Pathogenic evidence from ClinVar 22426308, 23906836, 23929686 ClinVar
SOX4 Causal Pathogenic evidence from ClinVar 30661722 ClinVar
PHF6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SMARCA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26539891, 26740508 -
SMARCA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22426308 -
SMARCA4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22426308 -
SOX11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24886874 -
COFFIN-SIRIS SYNDROME 6 C4540499 ARID2 Causal Pathogenic evidence from ClinVar 26238514 ClinVar
COFFIN-SIRIS SYNDROME 7 C4747954 DPF2 Causal Pathogenic evidence from ClinVar 29429572 ClinVar
COFFIN-SIRIS SYNDROME 5 C4310788 SMARCE1 Causal Pathogenic evidence from ClinVar 22426308, 23906836 ClinVar
COFFIN-SIRIS SYNDROME 4 C3553249 SMARCA4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22426308 -