Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 378884
Gene Symbol: NHLRC1
NHLRC1
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GermlineCausalMutation ORPHANET Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families. 22047982

2012
Entrez Id: 378884
Gene Symbol: NHLRC1
NHLRC1
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GermlineCausalMutation ORPHANET Increased laforin and laforin binding to glycogen underlie Lafora body formation in malin-deficient Lafora disease. 22669944

2012