Lethal congenital contracture syndrome

Disease Term Disease ID Gene Symbol Classification References Source
LETHAL CONGENITAL CONTRACTURE SYNDROME 8 C4225385 ADCY6 Causal Pathogenic evidence from ClinVar 24319099, 26257172 ClinVar
LETHAL CONGENITAL CONTRACTURE SYNDROME 9 C4225303 ADGRG6 Causal Pathogenic evidence from ClinVar 26004201 ClinVar
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 C4225386 CNTNAP1 Causal Pathogenic evidence from ClinVar 24319099, 27668699, 27782105, 28254648, 28374019 ClinVar
Lethal Congenital Contracture Syndrome 2 C1843478 ERBB3 Causal Pathogenic evidence from ClinVar 12519750, 17701904, 17709104 ClinVar
Lethal congenital contracture syndrome type 2 137776 ERBB3 Causal Pathogenic evidence from ClinVar - ClinVar
LETHAL CONGENITAL CONTRACTURE SYNDROME 11 C4310670 GLDN Causal Pathogenic evidence from ClinVar 27616481 ClinVar
LETHAL CONGENITAL CONTRACTURE SYNDROME 1 C1854664 GLE1 Causal Pathogenic evidence from ClinVar 16892327, 18204449, 23421748 ClinVar
Lethal congenital contracture syndrome type 1 1486 GLE1 Causal Pathogenic evidence from ClinVar - ClinVar
LETHAL CONGENITAL CONTRACTURAL SYNDROME 3 C1969655 PIP5K1C Causal Pathogenic evidence from ClinVar 17701898 ClinVar
MYBPC1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22610851 -
Lethal congenital contracture syndrome type 3 137783 PIP5K1C Causal Pathogenic evidence from ClinVar - ClinVar
MYBPC1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LETHAL CONGENITAL CONTRACTURE SYNDROME 5 C3809272 DNM2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15731758, 23092955 -
LETHAL CONGENITAL CONTRACTURE SYNDROME 4 C3554046 MYBPC1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20045868, 22610851, 26661508 -
LETHAL CONGENITAL CONTRACTURE SYNDROME 10 C4310760 NEK9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26908619 -
ZC2HC1C Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LETHAL CONGENITAL CONTRACTURE SYNDROME 6 C4015686 ZBTB42 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25055871 -