Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs724159948
rs724159948
DYRK1A ; LOC105372797
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: rs724159948
rs724159948
DYRK1A ; LOC105372797
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		T 0.700 CausalMutation CLINVAR Clinical phenotype of ASD-associated DYRK1A haploinsufficiency. 29034068

2017
dbSNP: rs724159948
rs724159948
DYRK1A ; LOC105372797
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
dbSNP: rs724159948
rs724159948
DYRK1A ; LOC105372797
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs724159948
rs724159948
DYRK1A ; LOC105372797
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		T 0.700 CausalMutation CLINVAR

dbSNP: rs724159948
rs724159948
DYRK1A ; LOC105372797
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		T 0.700 CausalMutation CLINVAR

dbSNP: rs724159948
rs724159948
DYRK1A ; LOC105372797
CUI: C3276611
Disease: Absent or delayed speech development
Absent or delayed speech development 		T 0.700 CausalMutation CLINVAR

dbSNP: rs724159948
rs724159948
DYRK1A ; LOC105372797
CUI: C1843367
Disease: Poor school performance
Poor school performance 		T 0.700 CausalMutation CLINVAR

dbSNP: rs724159948
rs724159948
DYRK1A ; LOC105372797
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 CausalMutation CLINVAR