Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.310 Biomarker 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
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.310 Biomarker GENOMICS_ENGLAND X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. 16604071

2006