Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
0.310 Biomarker disease BEFREE SMC1A should be included in clinical gene panels for early infantile and early childhood epileptic encephalopathy. 26386245 2015
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
0.310 Biomarker disease GENOMICS_ENGLAND We report on the clinical and molecular characterization of a female patient with early-onset epileptic encephalopathy, who was found to carry a de novo novel splice site mutation in SMC1A. 26358754 2015
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
0.310 Biomarker disease GENOMICS_ENGLAND X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. 16604071 2006