rs132630328, GK

N. diseases: 3
Disease: Intellectual Disability ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
0.010 GeneticVariation BEFREE Patient 4 had both GK deficiency with mental retardation and a GK missense mutation (D440V). 8651297 1996