DLG4, discs large MAGUK scaffold protein 4, 1742

N. diseases: 91; N. variants: 54
Disease: Pearson's marrow-pancreas syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555528304
rs1555528304
Entrez Id: 37;1742
Gene Symbol: ACADVL;DLG4
ACADVL;DLG4
CUI: C0342784
Disease:
Pearson's marrow-pancreas syndrome 		C 0.700 GeneticVariation CLINVAR Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. 11349232 2001