Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
0.600 GeneticVariation disease CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690 2019
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
0.600 GeneticVariation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
0.600 Biomarker disease GENOMICS_ENGLAND De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. 25655089 2015
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
0.600 Biomarker disease GENOMICS_ENGLAND Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. 25529582 2015
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
0.600 Biomarker disease GENOMICS_ENGLAND Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. 25125236 2014
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
0.600 CausalMutation disease CLINVAR
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
0.600 Biomarker disease CTD_human