LAMA1, laminin subunit alpha 1, 284217

N. diseases: 107; N. variants: 21
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs8090011
rs8090011
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		G 0.810 GeneticVariation GWASDB A variant (rs8090011) in the LAMA1 gene was associated with type 2 diabetes in lean cases (P = 8.4×10⁻⁹, OR = 1.13 [95% CI 1.09-1.18]), and this association was stronger than that in obese cases (P = 0.04, OR = 1.03 [95% CI 1.00-1.06]). 22693455 2012
dbSNP: rs8090011
rs8090011
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		G 0.810 GeneticVariation GWASCAT A variant (rs8090011) in the LAMA1 gene was associated with type 2 diabetes in lean cases (P = 8.4×10⁻⁹, OR = 1.13 [95% CI 1.09-1.18]), and this association was stronger than that in obese cases (P = 0.04, OR = 1.03 [95% CI 1.00-1.06]). 22693455 2012
dbSNP: rs8090011
rs8090011
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.810 GeneticVariation BEFREE A variant (rs8090011) in the LAMA1 gene was associated with type 2 diabetes in lean cases (P = 8.4×10⁻⁹, OR = 1.13 [95% CI 1.09-1.18]), and this association was stronger than that in obese cases (P = 0.04, OR = 1.03 [95% CI 1.00-1.06]). 22693455 2012
dbSNP: rs139840509
rs139840509
Entrez Id: 284217;101927188
Gene Symbol: LAMA1;LOC101927188
LAMA1;LOC101927188
CUI: C0869220
Disease:
Adverse effects, not elsewhere classified 		A 0.700 GeneticVariation GWASCAT Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records. 30420678 2019
dbSNP: rs7240767
rs7240767
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		C 0.700 GeneticVariation GWASCAT Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes. 30054458 2018
dbSNP: rs183708309
rs183708309
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
CUI: C0002395
Disease:
Alzheimer's Disease 		T 0.700 GeneticVariation GWASCAT Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. 26830138 2016
dbSNP: rs767889331
rs767889331
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects. 27095636 2016
dbSNP: rs767889331
rs767889331
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects. 27095636 2016
dbSNP: rs587777677
rs587777677
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
CUI: C4014821
Disease:
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome 		C 0.700 CausalMutation CLINVAR Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. 25105227 2014
dbSNP: rs587777678
rs587777678
Entrez Id: 284217;101927188
Gene Symbol: LAMA1;LOC101927188
LAMA1;LOC101927188
CUI: C4014821
Disease:
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome 		T 0.700 CausalMutation CLINVAR Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. 25105227 2014
dbSNP: rs587777680
rs587777680
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
CUI: C4014821
Disease:
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome 		A 0.700 CausalMutation CLINVAR Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. 25105227 2014
dbSNP: rs587777681
rs587777681
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
CUI: C4014821
Disease:
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome 		C 0.700 CausalMutation CLINVAR Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. 25105227 2014
dbSNP: rs767889331
rs767889331
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. 25105227 2014
dbSNP: rs767889331
rs767889331
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease? 24013853 2014
dbSNP: rs767889331
rs767889331
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. 25105227 2014
dbSNP: rs767889331
rs767889331
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease? 24013853 2014
dbSNP: rs797045182
rs797045182
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
CUI: C4014821
Disease:
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome 		A 0.700 CausalMutation CLINVAR Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. 25105227 2014
dbSNP: rs797045184
rs797045184
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
CUI: C4014821
Disease:
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome 		G 0.700 CausalMutation CLINVAR Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. 25105227 2014
dbSNP: rs767889331
rs767889331
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR The laminin family. 23263632 2013
dbSNP: rs767889331
rs767889331
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR The laminin family. 23263632 2013
dbSNP: rs767889331
rs767889331
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Update on activities at the Universal Protein Resource (UniProt) in 2013. 23161681 2013
dbSNP: rs767889331
rs767889331
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Update on activities at the Universal Protein Resource (UniProt) in 2013. 23161681 2013
dbSNP: rs8084092
rs8084092
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs600695
rs600695
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
CUI: C0004352
Disease:
Autistic Disorder 		0.700 GeneticVariation GWASDB Individual common variants exert weak effects on the risk for autism spectrum disorders. 22843504 2012
dbSNP: rs767889331
rs767889331
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011