GK, glycerol kinase, 2710

N. diseases: 55; N. variants: 5
Disease: Intellectual Disability ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs132630328
rs132630328
Entrez Id: 2710
Gene Symbol: GK
GK
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