Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		0.730 CausalMutation disease CLINVAR Novel SMC1A frameshift mutations in children with developmental delay and epilepsy. 26386245 2015
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		0.730 CausalMutation disease CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970 2015
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		0.730 Biomarker disease GENOMICS_ENGLAND Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A. 26358754 2015
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		0.730 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		0.300 Biomarker disease CTD_human BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome. 29379197 2018
Entrez Id: 23476
Gene Symbol: BRD4
BRD4 		0.300 Biomarker disease CTD_human BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome. 29379197 2018
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		0.730 GeneticVariation disease CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690 2019
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		0.730 CausalMutation disease CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690 2019