Simpson-golabi-behmel syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Simpson-Golabi-Behmel syndrome 373 GPC3 Causal Pathogenic evidence from ClinVar - ClinVar
GPC4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 C0796154 GPC3 Causal Pathogenic evidence from ClinVar 8589713, 10402475, 10814714, 11846487, 17850639, 29637653 ClinVar
GPC4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21082656 -
RETSAT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19139408 -
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder) C1846175 OFD1 Causal Pathogenic evidence from ClinVar 11179005, 18546297, 19800048, 23036093 ClinVar