LAMA2, laminin subunit alpha 2, 3908

N. diseases: 167; N. variants: 127
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12205363
rs12205363
Entrez Id: 3908;102723409
Gene Symbol: LAMA2;LOC102723409
LAMA2;LOC102723409
CUI: C4025843
Disease:
Abnormality of refraction 		C 0.700 GeneticVariation GWASCAT Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. 23396134 2013
dbSNP: rs2571573
rs2571573
Entrez Id: 3908;102723409
Gene Symbol: LAMA2;LOC102723409
LAMA2;LOC102723409
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs6923431
rs6923431
Entrez Id: 3908;102723409
Gene Symbol: LAMA2;LOC102723409
LAMA2;LOC102723409
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs868408509
rs868408509
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C0678222
Disease:
Breast Carcinoma 		0.010 GeneticVariation BEFREE In addition, we showed independent somatic NF1 mutations in all the three tumors (frameshift insertion in breast cancer (p.A985fs), missense mutation in MPNST (p.G23R), and inframe deletion in dermal neurofibroma (p.L1876del-Inf)), indicating that a second hit in NF1 resulting in the loss of function could be important for tumor formation. 26432421 2015
dbSNP: rs145465528
rs145465528
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C0007758
Disease:
Cerebellar Ataxia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554301637
rs1554301637
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C0699743
Disease:
Congenital muscular dystrophy (disorder) 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1562530132
rs1562530132
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C0699743
Disease:
Congenital muscular dystrophy (disorder) 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs121913572
rs121913572
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C0699743
Disease:
Congenital muscular dystrophy (disorder) 		0.010 GeneticVariation BEFREE Severe congenital muscular dystrophy in a Mexican family with a new nonsense mutation (R2578X) in the laminin alpha-2 gene. 12601554 2003
dbSNP: rs202247792
rs202247792
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C0241005
Disease:
Creatine phosphokinase serum increased 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs398123383
rs398123383
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C0241005
Disease:
Creatine phosphokinase serum increased 		T 0.700 CausalMutation CLINVAR
dbSNP: rs868408509
rs868408509
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C0346057
Disease:
Cutaneous neurofibroma 		0.010 GeneticVariation BEFREE In addition, we showed independent somatic NF1 mutations in all the three tumors (frameshift insertion in breast cancer (p.A985fs), missense mutation in MPNST (p.G23R), and inframe deletion in dermal neurofibroma (p.L1876del-Inf)), indicating that a second hit in NF1 resulting in the loss of function could be important for tumor formation. 26432421 2015
dbSNP: rs145465528
rs145465528
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C0454644
Disease:
Delayed speech and language development 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs202247792
rs202247792
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C0241237
Disease:
Difficulty standing 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs398123383
rs398123383
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1850830
Disease:
Exercise-induced myalgia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1554301637
rs1554301637
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1858120
Disease:
Generalized hypotonia 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs12193446
rs12193446
Entrez Id: 3908;102723409
Gene Symbol: LAMA2;LOC102723409
LAMA2;LOC102723409
CUI: C0020490
Disease:
Hyperopia 		0.700 GeneticVariation GWASCAT Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci. 25233373 2014
dbSNP: rs145465528
rs145465528
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C0023882
Disease:
Little's Disease 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs868408509
rs868408509
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.010 GeneticVariation BEFREE In addition, we showed independent somatic NF1 mutations in all the three tumors (frameshift insertion in breast cancer (p.A985fs), missense mutation in MPNST (p.G23R), and inframe deletion in dermal neurofibroma (p.L1876del-Inf)), indicating that a second hit in NF1 resulting in the loss of function could be important for tumor formation. 26432421 2015
dbSNP: rs868408509
rs868408509
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C0751690
Disease:
Malignant Peripheral Nerve Sheath Tumor 		0.010 GeneticVariation BEFREE In addition, we showed independent somatic NF1 mutations in all the three tumors (frameshift insertion in breast cancer (p.A985fs), missense mutation in MPNST (p.G23R), and inframe deletion in dermal neurofibroma (p.L1876del-Inf)), indicating that a second hit in NF1 resulting in the loss of function could be important for tumor formation. 26432421 2015
dbSNP: rs145465528
rs145465528
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C0026351
Disease:
Moderate intellectual disability 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs145465528
rs145465528
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C0026826
Disease:
Muscle Hypertonia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1209130981
rs1209130981
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. 18700894 2008
dbSNP: rs1209130981
rs1209130981
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. 20207543 2010
dbSNP: rs1209130981
rs1209130981
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations. 21953594 2011
dbSNP: rs1209130981
rs1209130981
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Merosin-deficient congenital muscular dystrophy type 1A: A case report. 24223650 2013