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: rs525410
rs525410
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.800 GeneticVariation GWASDB Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. 21408207 2011
dbSNP: rs525410
rs525410
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.800 GeneticVariation GWASCAT Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. 21408207 2011
dbSNP: rs2276543
rs2276543
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
CUI: C2985280
Disease:
Blood Protein Measurement 		A 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs2276543
rs2276543
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
CUI: C2985280
Disease:
Blood Protein Measurement 		G 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs3768610
rs3768610
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
CUI: C2985280
Disease:
Blood Protein Measurement 		A 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs1217053724
rs1217053724
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		T 0.700 GeneticVariation CLINVAR Laminin: loss-of-function studies. 27696112 2017
dbSNP: rs1217053724
rs1217053724
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
CUI: C0079683
Disease:
Herlitz Disease 		T 0.700 GeneticVariation CLINVAR Laminin: loss-of-function studies. 27696112 2017
dbSNP: rs672059
rs672059
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
CUI: C0020557
Disease:
Hypertriglyceridemia 		0.700 GeneticVariation GWASCAT A common variant association study in ethnic Saudi Arabs reveals novel susceptibility loci for hypertriglyceridemia. 27599772 2017
dbSNP: rs80356683
rs80356683
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
CUI: C0079683
Disease:
Herlitz Disease 		T 0.700 CausalMutation CLINVAR Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population. 17916201 2008
dbSNP: rs1057516473
rs1057516473
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
CUI: C0079683
Disease:
Herlitz Disease 		A 0.700 GeneticVariation CLINVAR Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. 16473856 2006
dbSNP: rs118203901
rs118203901
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
CUI: C0079683
Disease:
Herlitz Disease 		T 0.700 GeneticVariation CLINVAR Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. 16473856 2006
dbSNP: rs778012079
rs778012079
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
CUI: C0079683
Disease:
Herlitz Disease 		C 0.700 GeneticVariation CLINVAR Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. 16473856 2006
dbSNP: rs1553266871
rs1553266871
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
CUI: C0079683
Disease:
Herlitz Disease 		A 0.700 GeneticVariation CLINVAR Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa. 15373767 2004
dbSNP: rs753268823
rs753268823
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
CUI: C0079683
Disease:
Herlitz Disease 		T 0.700 GeneticVariation CLINVAR Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa. 15373767 2004
dbSNP: rs80356683
rs80356683
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
CUI: C0079683
Disease:
Herlitz Disease 		T 0.700 CausalMutation CLINVAR Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa. 15373767 2004
dbSNP: rs118203901
rs118203901
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
CUI: C0079683
Disease:
Herlitz Disease 		T 0.700 GeneticVariation CLINVAR Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes. 11810295 2002
dbSNP: rs151190720
rs151190720
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
CUI: C0079683
Disease:
Herlitz Disease 		T 0.700 GeneticVariation CLINVAR Is screening of the candidate gene necessary in unrelated partners of members of families with Herlitz junctional epidermolysis bullosa? 11231327 2001
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
dbSNP: rs1553267885
rs1553267885
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
dbSNP: rs201307156
rs201307156
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
CUI: C0079683
Disease:
Herlitz Disease 		T 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
dbSNP: rs80356683
rs80356683
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
CUI: C0079683
Disease:
Herlitz Disease 		T 0.700 CausalMutation CLINVAR Detection of novel LAMC2 mutations in Herlitz junctional epidermolysis Bullosa. 9085255 1997
dbSNP: rs80356683
rs80356683
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
CUI: C0079683
Disease:
Herlitz Disease 		T 0.700 CausalMutation CLINVAR Molecular complexity of the cutaneous basement membrane zone. 8983017 1996
dbSNP: rs118203899
rs118203899
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
CUI: C0079683
Disease:
Herlitz Disease 		G 0.700 GeneticVariation CLINVAR A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa. 7849725 1994
dbSNP: rs80356683
rs80356683
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
CUI: C0079683
Disease:
Herlitz Disease 		T 0.700 CausalMutation CLINVAR Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5). 8012394 1994
dbSNP: rs1043996591
rs1043996591
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
CUI: C0079683
Disease:
Herlitz Disease 		T 0.700 GeneticVariation CLINVAR