LAMC2, laminin subunit gamma 2, 3918

N. diseases: 602; N. variants: 66
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553267882
rs1553267882
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
CUI: C0079683
Disease:
Herlitz Disease
C 0.700 GeneticVariation CLINVAR Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: effects on laminin-5 assembly, secretion, and deposition. 11564184 2001