Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs724159953
rs724159953
DYRK1A
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		T 0.700 CausalMutation CLINVAR Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders. 28053047

2017
dbSNP: rs724159953
rs724159953
DYRK1A
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		T 0.700 CausalMutation CLINVAR Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. 25920557

2015