Gene: PKLR ×
Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5313
Gene Symbol: PKLR
PKLR 		0.300 Biomarker group GENOMICS_ENGLAND Mutations in pyruvate kinase. 8664896 1996
Entrez Id: 5313
Gene Symbol: PKLR
PKLR 		0.300 Biomarker group GENOMICS_ENGLAND cDNA cloning of human R-type pyruvate kinase and identification of a single amino acid substitution (Thr384----Met) affecting enzymatic stability in a pyruvate kinase variant (PK Tokyo) associated with hereditary hemolytic anemia. 1896471 1991