LAMA1, laminin subunit alpha 1, 284217

N. diseases: 107; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014821
Disease: Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome 		0.610 GeneticVariation disease BEFREE Using a combination of homozygosity mapping and whole-exome sequencing, we identified biallelic mutations in LAMA1 as the cause of CDC in seven affected individuals (from five families) independent from those included in the phenotypic description of Poretti-Boltshauser syndrome. 25105227 2014
CUI: C4014821
Disease: Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome 		0.610 GeneticVariation disease CLINVAR
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.330 GeneticVariation disease BEFREE In the present study, we found LAMB4 (11.8% of GC and 7.6% of CRC with MSI-H), LAMA3 (2.9% of GC and 2.5 of CRC with MSI-H), LAMA1 (5.9% of GC with MSI-H) and LAMB1 frameshift mutations (1.3% of CRC with MSI-H). 25257191 2015
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.120 GeneticVariation disease GWASDB Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases. 22693455 2012
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.120 GeneticVariation disease GWASCAT Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes. 30054458 2018
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.120 GeneticVariation disease 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
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.120 GeneticVariation disease GWASCAT Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases. 22693455 2012
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.120 GeneticVariation group BEFREE In one additional family, we identified two siblings who have truncating LAMA1 mutations in combination with retinal dystrophy and mild cerebellar dysplasia without cysts, indicating that cysts are not an obligate feature associated with loss of LAMA1 function. 25105227 2014
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.120 GeneticVariation group BEFREE In this paper we describe individuals with biallelic mutations in LAMA1, all of whom had the cerebellar dysplasia, myopia and retinal dystrophy, in addition to obsessive compulsive traits, tics and anxiety. 27095636 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.110 GeneticVariation disease GWASCAT Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. 26830138 2016
CUI: C0003467
Disease: Anxiety
Anxiety 		0.110 GeneticVariation disease BEFREE In this paper we describe individuals with biallelic mutations in LAMA1, all of whom had the cerebellar dysplasia, myopia and retinal dystrophy, in addition to obsessive compulsive traits, tics and anxiety. 27095636 2016
CUI: C0003467
Disease: Anxiety
Anxiety 		0.110 GeneticVariation disease CLINVAR
CUI: C0027092
Disease: Myopia
Myopia 		0.110 GeneticVariation disease BEFREE 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
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 GeneticVariation disease GWASDB Individual common variants exert weak effects on the risk for autism spectrum disorders. 22843504 2012
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 GeneticVariation disease CLINVAR
CUI: C0017152
Disease: Gastritis
Gastritis 		0.100 GeneticVariation disease CLINVAR
CUI: C0018681
Disease: Headache
Headache 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.100 GeneticVariation disease BEFREE Of the 12,906 articles found by searching the databases, we obtained data from 10,591 patients with COPD (LABA, n=5,058; LAMA, n=5,533) in seven published studies. 30746196 2018
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.100 GeneticVariation disease BEFREE Predictors of short-term LAMA ineffectiveness in treatment naïve patients with moderate to severe COPD. 29322375 2018
CUI: C0027497
Disease: Nausea
Nausea 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.100 GeneticVariation phenotype GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior 		0.100 GeneticVariation disease CLINVAR
CUI: C0869220
Disease: Adverse effects, not elsewhere classified
Adverse effects, not elsewhere classified 		0.100 GeneticVariation disease GWASCAT Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records. 30420678 2019
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.100 GeneticVariation disease CLINVAR