rs797045993, SMC1A

N. diseases: 1
Disease: Congenital muscular hypertrophy-cerebral syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital muscular hypertrophy-cerebral syndrome
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
0.800 GeneticVariation UNIPROT Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum. 24124034 2013
Congenital muscular hypertrophy-cerebral syndrome
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
0.800 GeneticVariation UNIPROT Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. 20358602 2010
Congenital muscular hypertrophy-cerebral syndrome
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
0.800 GeneticVariation UNIPROT Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A. 20635401 2010
Congenital muscular hypertrophy-cerebral syndrome
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
0.800 GeneticVariation UNIPROT Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. 18996922 2009
Congenital muscular hypertrophy-cerebral syndrome
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
0.800 GeneticVariation UNIPROT SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. 19701948 2009
Congenital muscular hypertrophy-cerebral syndrome
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
0.800 GeneticVariation UNIPROT Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. 17273969 2007
Congenital muscular hypertrophy-cerebral syndrome
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
0.800 GeneticVariation UNIPROT Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations. 17221863 2007
Congenital muscular hypertrophy-cerebral syndrome
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
0.800 GeneticVariation UNIPROT X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. 16604071 2006
Congenital muscular hypertrophy-cerebral syndrome
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
0.800 CausalMutation CLINVAR