Congenital muscular hypertrophy-cerebral syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Congenital muscular hypertrophy-cerebral syndrome C1802395 SMC1A Causal Pathogenic evidence from ClinVar 16604071, 17221863, 17273969, 18996922, 19701948, 20358602, 20635401, 24124034, 25125236, 25356970, 26358754, 26386245, 26633545, 30158690 ClinVar
BRD4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29379197 -
NIPBL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19763162, 19886366, 29379197 -
RAD21 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SMC3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -