Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation group CLINVAR Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. 25249037 2015
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation group CLINVAR Phenotype and genotype in Nicolaides-Baraitser syndrome. 25169058 2014
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation group CLINVAR Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. 22366787 2012
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation group CLINVAR Nicolaides-Baraitser syndrome: Delineation of the phenotype. 19606471 2009
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation group CLINVAR Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals. 14564210 2003
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation group CLINVAR An unusual syndrome with mental retardation and sparse hair. 8287185 1993