LAMC2, laminin subunit gamma 2, 3918

N. diseases: 602; N. variants: 66
Disease: Junctional Epidermolysis Bullosa ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1168634503
rs1168634503
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
CUI: C0079301
Disease:
Junctional Epidermolysis Bullosa 		0.010 GeneticVariation BEFREE Novel compound heterozygous mutation in LAMC2 genes (c.79G>A and 382insT) in Herlitz junctional epidermolysis bullosa. 24533970 2014