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: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		0.010 Biomarker disease BEFREE Intake of LABA, LAMA or ICS was regular in 91.9% of patients, even higher for cardiovascular and antidiabetes medication but lower for hyperlipidemia and depression/anxiety medication. 31631986 2019
CUI: C0338908
Disease: Mixed anxiety and depressive disorder
Mixed anxiety and depressive disorder 		0.010 Biomarker disease BEFREE Intake of LABA, LAMA or ICS was regular in 91.9% of patients, even higher for cardiovascular and antidiabetes medication but lower for hyperlipidemia and depression/anxiety medication. 31631986 2019
CUI: C0740304
Disease: COPD exacerbation
COPD exacerbation 		0.010 GeneticVariation disease BEFREE The adjusted hazard ratio (HR) of a COPD exacerbation associated with LAMA-LABA-ICS initiation compared with LAMA-LABA initiation was 0.97 (95% CI: 0.87-1.08). 31759966 2019
CUI: C0877009
Disease: Muscle fibrosis
Muscle fibrosis 		0.010 AlteredExpression phenotype BEFREE When pre-symptomatic mice were treated, Lama1 was upregulated in skeletal muscles and peripheral nerves, which prevented muscle fibrosis and paralysis. 31341277 2019
CUI: C3714636
Disease: Pneumonitis
Pneumonitis 		0.010 GeneticVariation disease BEFREE However, with the possible exception of patients with significant eosinophilia or frequent exacerbators, a LAMA-LABA combination without ICS may be preferable because it is associated with fewer severe pneumonias. 31759966 2019
CUI: C0013404
Disease: Dyspnea
Dyspnea 		0.010 Biomarker phenotype 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: C0022548
Disease: Keloid
Keloid 		0.010 Biomarker disease BEFREE Notably, the expression of extracellular matrix associated genes showed distinguishing profiles between all scar types and normal skin (hyaluronan synthase-1, matrix-metalloprotease-3), between keloid and normal skin (collagen type IV), between normal scar and keloid (laminin α1), and between keloid and hypertrophic scar (matrix-metalloprotease-1, integrin α5). 29490604 2018
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.010 Biomarker disease BEFREE Laminin α1 reduces muscular dystrophy in dy<sup>2J</sup> mice. 29544677 2018
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 Biomarker disease BEFREE Therefore, cell cycle‑associated genes including E2F1, E2F2, RB1 and CCND1, and cell adhesion‑associated genes, such as CDH18 and LAMA1 may be used as diagnosis and/or therapeutic markers for patients with OS. 29207108 2018
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.010 Biomarker group BEFREE The laminin α1 chain transgene ameliorated the dystrophic phenotype, restored muscle strength and reduced peripheral neuropathy. 29544677 2018
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.010 Biomarker disease BEFREE These studies identify Lama1 as the genetic modifier of TGF-β1 effector responses that significantly affects the development of pulmonary fibrosis. 30232270 2018
CUI: C0162810
Disease: Cicatrix, Hypertrophic
Cicatrix, Hypertrophic 		0.010 GeneticVariation disease BEFREE Notably, the expression of extracellular matrix associated genes showed distinguishing profiles between all scar types and normal skin (hyaluronan synthase-1, matrix-metalloprotease-3), between keloid and normal skin (collagen type IV), between normal scar and keloid (laminin α1), and between keloid and hypertrophic scar (matrix-metalloprotease-1, integrin α5). 29490604 2018
CUI: C0263383
Disease: Keratosis pilaris
Keratosis pilaris 		0.010 Biomarker disease BEFREE We propose LAMA1 as a novel candidate gene for keratosis pilaris. 30244536 2018
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 Biomarker disease BEFREE Therefore, cell cycle‑associated genes including E2F1, E2F2, RB1 and CCND1, and cell adhesion‑associated genes, such as CDH18 and LAMA1 may be used as diagnosis and/or therapeutic markers for patients with OS. 29207108 2018
CUI: C0730607
Disease: Severe chronic obstructive pulmonary disease
Severe chronic obstructive pulmonary disease 		0.010 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: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 Biomarker disease BEFREE Therefore, cell cycle‑associated genes including E2F1, E2F2, RB1 and CCND1, and cell adhesion‑associated genes, such as CDH18 and LAMA1 may be used as diagnosis and/or therapeutic markers for patients with OS. 29207108 2018
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.010 AlteredExpression disease BEFREE Also, Lama1 mRNA expression was significantly increased in lung tissue obtained from IPF patients. 30232270 2018
CUI: C1845050
Disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS 		0.010 Biomarker disease BEFREE Our findings suggest that LAMA1 may play a role in PDR and, thus, may serve as a potential target for DR diagnosis and/or treatment. 29967796 2018
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.010 Biomarker group BEFREE The laminin α1 chain transgene ameliorated the dystrophic phenotype, restored muscle strength and reduced peripheral neuropathy. 29544677 2018
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: C0026848
Disease: Myopathy
Myopathy 		0.010 AlteredExpression group BEFREE Increased expression of Lama1 by the CRISPR/Cas9 system will have to be further investigated by systemic delivery of the CRISPR/Cas9 components to verify whether this could be a treatment for several myopathies. 28325301 2017
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.010 Biomarker disease BEFREE Results from these studies demonstrated that the LAMA-LABA FDCs significantly improved lung function compared with their component monotherapies or other single-agent treatments. 28115839 2017
CUI: C1167782
Disease: Lung hyperinflation
Lung hyperinflation 		0.010 Biomarker disease BEFREE Therefore, since the current interest in the use of bronchodilators in COPD is gradually shifting towards the dual bronchodilation, we carried out a meta-analysis to evaluate the impact of LABA/LAMA combination on exercise capacity and lung hyperinflation in COPD. 28732830 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		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: 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