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: C2673431
Disease: Abnormality of the periventricular white matter
Abnormality of the periventricular white matter 		0.100 Biomarker disease HPO
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 Biomarker disease BEFREE A procedure for in-cell amplification of the hybrid BCR-ABL mRNA by reverse transcription and polymerase chain reaction (RT-PCR) without extraction of the nucleic acids was performed directly in fixed and permeabilized cells of leukemia patients (22 patients with Ph'-positive chronic myeloid leukaemia-CML and 1 with Ph'-positive acute leukaemia-AL, as well as 7 Ph'-negative cases) and Ph'-positive human leukaemia cell lines (K562, LAMA-84, BV173). 10674911 2000
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 AlteredExpression disease BEFREE The only exception was the HU-1 lung adenocarcinoma cell line which expressed significant quantities of laminin M chain mRNA and lower levels of laminin A chain mRNA. 7967523 1994
CUI: C0001430
Disease: Adenoma
Adenoma 		0.010 Biomarker group BEFREE We identified novel driver mutations that developed during adenoma and cancer evolution, particularly in OR1B1 (GPCR signaling pathway) for adenoma evolution, and LAMA1 (PI3K-Akt signaling pathway) and ADCY3 (FGFR signaling pathway) for CRC evolution. 27941887 2017
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: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.100 CausalMutation phenotype CLINVAR
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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.110 AlteredExpression disease LHGDN Differential distribution of laminins in Alzheimer disease and normal human brain tissue. 12111806 2002
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.100 Biomarker phenotype HPO
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: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.010 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: C0004096
Disease: Asthma
Asthma 		0.040 Biomarker disease BEFREE <b>Introduction</b>: The use of LAMAs in asthma is now supported by pharmacological and clinical evidence, whereas the effectiveness of therapy with ICS/LABA/LAMA fixed dose combinations in patients with asthma still remains to be determined. 31422716 2019
CUI: C0004096
Disease: Asthma
Asthma 		0.040 Biomarker disease BEFREE Use of ICS/LABA Combinations or LAMA Is Associated with a Lower Risk of Acute Exacerbation in Patients with Coexistent COPD and Asthma. 29432960 2019
CUI: C0004096
Disease: Asthma
Asthma 		0.040 Biomarker disease BEFREE Abbreviations AIR Anti-Inflammatory Reliever Therapy DMAADs disease modifying anti-asthmatic drugs GINA Global initiative for asthma ICS Inhaled corticosteroids LABA Long acting beta2 agonists LAMA Long acting muscarinic antagonists PICO population, intervention, comparator, and outcomes PRN pro re nata RA rheumatoid arthritis SABA Short acting beta2 agonists TTT Treat to target. 30907188 2019
CUI: C0004096
Disease: Asthma
Asthma 		0.040 Biomarker disease BEFREE In any case, the documentation that, at least in animal or in vitro models, LAMAs show significant anti-inflammatory and anti-proliferative capacities and are able to inhibit airway remodeling induced by allergens makes a strong presumption that the use of LAMAs in asthma may go beyond the simple bronchodilator effect. 28140686 2017
CUI: C0521694
Disease: Atrophic retina
Atrophic retina 		0.100 Biomarker disease HPO
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.100 GeneticVariation disease CLINVAR
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 CausalMutation disease CLINVAR
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: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 Biomarker disease BEFREE The panel consisted of the leukemias HL-60, BV-173, SKW-3, K-562, LAMA-84 and the urinary bladder carcinoma 5637. 17017982 2006
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 GermlineCausalMutation disease ORPHANET 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