Cornelia de lange syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Cornelia de Lange syndrome 199 HDAC8 Causal Pathogenic evidence from ClinVar - ClinVar
KMT2A Causal Pathogenic evidence from ClinVar - ClinVar
NIPBL Causal Pathogenic evidence from ClinVar - ClinVar
RAD21 Causal Pathogenic evidence from ClinVar - ClinVar
SMC1A Causal Pathogenic evidence from ClinVar - ClinVar
SMC3 Causal Pathogenic evidence from ClinVar - ClinVar
SETD5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Cornelia De Lange Syndrome C0270972 HDAC8 Causal Pathogenic evidence from ClinVar 19605684, 22885700, 22889856, 25102094, 29519750 ClinVar
KMT2A Causal Pathogenic evidence from ClinVar 28120103 ClinVar
NIPBL Causal Pathogenic evidence from ClinVar 15146185, 15146186, 19763162, 19886366, 22628566, 25255084, 26544867, 29379197 ClinVar
RAD21 Causal Pathogenic evidence from ClinVar 17567667, 22633399, 24378232, 25125236, 25378554, 27620904, 27882533, 30125677, 30716475 ClinVar
SMC1A Causal Pathogenic evidence from ClinVar - ClinVar
SMC3 Causal Pathogenic evidence from ClinVar - ClinVar
BRD4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29379197 -
SETD5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28120103 -
Cornelia de Lange Syndrome 1 C4551851 HDAC8 Causal Pathogenic evidence from ClinVar - ClinVar
KMT2A Causal Pathogenic evidence from ClinVar - ClinVar
NIPBL Causal Pathogenic evidence from ClinVar 8291537, 11391654, 15146185, 15146186, 15318302, 16100726, 16236812, 17221863, 17661813, 19763162, 19886366, 20124326, 20358602, 20824775, 21934712, 23254390, 23505322, 24038889, 24635725, 24874887, 25447906, 26701315, 26725122, 26925417, 26938784, 27164022, 28167679, 29379197, 29440723, 30158690 ClinVar
RAD21 Causal Pathogenic evidence from ClinVar - ClinVar
SMC1A Causal Pathogenic evidence from ClinVar - ClinVar
SMC3 Causal Pathogenic evidence from ClinVar - ClinVar
TAF6 Causal Pathogenic evidence from ClinVar - ClinVar
BRD4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29379197 -
CORNELIA DE LANGE SYNDROME 5 C3550903 HDAC8 Causal Pathogenic evidence from ClinVar 22885700, 24375697, 24403048, 25533962, 26633545, 26671848, 26725122, 26938784, 27159028, 30158690 ClinVar
Cornelia de Lange Syndrome 3 C1853099 NIPBL Causal Pathogenic evidence from ClinVar 19763162, 19886366, 29379197 ClinVar
RAD21 Causal Pathogenic evidence from ClinVar - ClinVar
SMC1A Causal Pathogenic evidence from ClinVar - ClinVar
SMC3 Causal Pathogenic evidence from ClinVar 25125236, 25529582, 25655089, 26633545, 30158690 ClinVar
BRD4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29379197 -
CORNELIA DE LANGE SYNDROME 4 C3553517 RAD21 Causal Pathogenic evidence from ClinVar 22633399, 27620904, 27882533, 30125677, 30158690 ClinVar
UTP23 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22633399, 30125677 -