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
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: 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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.330 Biomarker disease BEFREE Laminin α1 orchestrates VEGFA functions in the ecosystem of colorectal carcinoma. 29907957 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.330 Biomarker disease 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: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis
0.310 AlteredExpression disease BEFREE Nonalcoholic steatohepatitis (NASH), when compared with simple steatosis (SS), significantly increases the expression of TGFB1 (6.8, p<0.005), angiotensin I-converting enzyme (ACE) (2.1, p<0.007), LAMA1 (2.1, p<0.007), SERPINB2 (2.1, p<0.007), CSF2 (2.5, p<0.002), IL1A (2.5, p<0.005), IL3 (2.1, p<0.007), IL4 (2.1, p<0.007), LIF (2.1, p<0.007), and MMP1 (2.1, p<0.007), and decreases the transcript levels of genes involved in the negative regulation of cell-death pathways. 21664615 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.310 Biomarker group BEFREE A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability. 30244536 2018
Diabetes Mellitus, Non-Insulin-Dependent
0.120 Biomarker disease BEFREE We also examined the association of 3 additional loci: CCND2 and GIPR, identified in sex-differentiated analyses, and LAMA1, which was shown to be associated with non-obese European type 2 diabetes. 25951451 2015
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: 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: 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: 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: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.100 Biomarker disease BEFREE Recent updates to the GOLD guidelines emphasize the use of combination LABA and LAMA bronchodilators for patients with chronic obstructive pulmonary disease with persistent dyspnea despite monotherapy or frequent exacerbations despite LAMA monotherapy. 29206657 2018
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.100 Biomarker disease BEFREE Rates of escalation to triple COPD therapy among incident users of LAMA and LAMA/LABA. 29858004 2018
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.100 Biomarker disease BEFREE Overall use of any COPD regimen remained stable in the year following the formulary listing of LAMA/LABA combination products in May 2015, as did the use of LABA/ICS (most commonly-used regimen). 30261979 2018
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.100 Biomarker disease BEFREE This study intends to establish the use of LABA/LAMA combination therapy in symptomatic patients with mild-to-moderate COPD by demonstrating the superiority of IND/GLY over tiotropium monotherapy. 28228162 2017
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.100 Biomarker disease BEFREE In a real world setting of COPD treatment, the triple combination of LAMA, LABA and ICS inhalers is generally as effective as combining LAMA and LABA inhalers in preventing COPD exacerbations. 31759966 2019
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.100 Biomarker disease BEFREE Single inhaler triple therapies providing an inhaled corticosteroid, a long-acting muscarinic antagonist, and a long-acting β<sub>2</sub>-agonist (ICS/LAMA/LABAs) are an emerging treatment option for chronic obstructive pulmonary disease (COPD). 31605923 2020
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.100 Biomarker disease BEFREE The total average cost of COPD was €2647.38/patient and ICS/LABA/LAMA therapy contributed the most (€1541.45). 31174106 2019
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.100 Biomarker disease BEFREE The first group of COPD patients (n = 30; mild (n = 3), moderate (n = 6), severe (n = 7), very severe (n = 14) as per GOLD II & III criteria was prescribed the standard therapy, a combination of (i) short acting anti-muscarinic agent (SAMA) + short acting β2 agonist (SABA) inhaled and (ii) corticosteroid inhaled (ICS) + long acting β2 agonist (LABA) (iii) ICS + LABA + LAMA. 31349003 2019
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.100 Biomarker disease BEFREE Aclidinium bromide/formoterol fumarate (AB/FF) 400/12 µg is a twice-daily long-acting muscarinic receptor antagonist and long-acting β<sub>2</sub> agonist (LAMA/LABA) dual-bronchodilator maintenance therapy used to relieve symptoms and reduce future risk of exacerbations in adults with chronic obstructive pulmonary disease (COPD). 31096854 2019
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.100 Biomarker disease BEFREE <b>Introduction</b>: Triple therapy with two bronchodilators (LABA plus LAMA) and an inhaled corticosteroid (ICS) is recommended for patients suffering from severe chronic obstructive pulmonary disease (COPD). 30463451 2018
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: 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