rs132630328, GK

N. diseases: 3
Disease: Deficiency of glycerol kinase ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Deficiency of glycerol kinase
CUI: C0268418
Disease: Deficiency of glycerol kinase
0.710 GeneticVariation BEFREE Patient 4 had both GK deficiency with mental retardation and a GK missense mutation (D440V). 8651297 1996
Deficiency of glycerol kinase
CUI: C0268418
Disease: Deficiency of glycerol kinase
0.710 CausalMutation CLINVAR