Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5313
Gene Symbol: PKLR
PKLR
CUI: C0340968
Disease: Deficiency of pyruvate kinase
Deficiency of pyruvate kinase 		1.000 GermlineCausalMutation ORPHANET Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations. 16704447

2006
Entrez Id: 5313
Gene Symbol: PKLR
PKLR
CUI: C0340968
Disease: Deficiency of pyruvate kinase
Deficiency of pyruvate kinase 		1.000 GermlineCausalMutation ORPHANET Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene. 15953013

2005