DLG4, discs large MAGUK scaffold protein 4, 1742

N. diseases: 91; N. variants: 54
Disease: Very long chain acyl-CoA dehydrogenase deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1443151475
rs1443151475
Entrez Id: 37;1742
Gene Symbol: ACADVL;DLG4
ACADVL;DLG4
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		G 0.700 CausalMutation CLINVAR Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency. 25834949 2015
dbSNP: rs1443151475
rs1443151475
Entrez Id: 37;1742
Gene Symbol: ACADVL;DLG4
ACADVL;DLG4
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		G 0.700 CausalMutation CLINVAR Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. 9973285 1999