LAMA5, laminin subunit alpha 5, 3911

N. diseases: 56; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0403529
Disease: Anti-Glomerular Basement Membrane Disease
Anti-Glomerular Basement Membrane Disease 		0.010 AlteredExpression disease BEFREE Maternal alloimmune IgG causes anti-glomerular basement membrane disease in perinatal transgenic mice that express human laminin α5. 31530475 2019
CUI: C0423361
Disease: Posterior Vitreous Detachment
Posterior Vitreous Detachment 		0.010 GeneticVariation disease BEFREE Early posterior vitreous detachment is associated with LAMA5 dominant mutation. 30589377 2019
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.010 Biomarker disease BEFREE These findings suggest that mural cell-derived laminin-α5 plays a detrimental role in ischemic stroke and that inhibiting its signaling may have a neuroprotective effect. 30777135 2019
CUI: C1519670
Disease: Tumor Angiogenesis
Tumor Angiogenesis 		0.010 AlteredExpression phenotype BEFREE The expression of Laminin 511 was associated with reduced survival in several independent colorectal cancer cohorts and angiogenesis signatures or vessel density significantly correlated with LAMA5 expression. 31064120 2019
CUI: C4324298
Disease: Tumour inflammation
Tumour inflammation 		0.010 AlteredExpression disease BEFREE This data demonstrates a mechanism whereby tumour inflammation induces LAMA5 expression in colorectal cancer cells. 31064120 2019
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 AlteredExpression disease BEFREE Despite lama5 being a known attachment site for GBM, lama5 expression had no effect on U251MG association with blood vessels. 30389143 2018
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.010 GeneticVariation disease BEFREE Mutations in COL4A5 cause classical X-linked Alport Syndrome, while rare mutations in the LAMA5 have been reported in patients with focal segmental glomerulosclerosis. 29764427 2018
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.010 GeneticVariation group BEFREE This is the third report linking a LAMA5 variant with human renal disease and expanding the spectrum of genes involved in glomerular pathologies accompanied by familial hematurias. 29764427 2018
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses 		0.010 Biomarker disease BEFREE Collagen IV and laminin α-5 (p = 0.002, 0.0004) staining demonstrated increased ECM deposition within the reticular and capillary network of MPS samples. 30226843 2018
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 GeneticVariation disease BEFREE Among them, the expression of ST3GAL6-AS1, LAMA5-AS1and RP11-175D17.3wereassociated with stage and risk status of MM. 29459023 2018
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 Biomarker disease BEFREE Quantification of glioblastoma progression in zebrafish xenografts: Adhesion to laminin alpha 5 promotes glioblastoma microtumor formation and inhibits cell invasion. 30389143 2018
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 Biomarker disease BEFREE Quantification of glioblastoma progression in zebrafish xenografts: Adhesion to laminin alpha 5 promotes glioblastoma microtumor formation and inhibits cell invasion. 30389143 2018
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.010 GeneticVariation disease BEFREE A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5. 29377152 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 Biomarker phenotype BEFREE Lama5 has been implicated in cancer cell survival, proliferation and invasion and is a known adhesion site for GBM cells. 30389143 2018
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		0.010 Biomarker disease BEFREE A modifier role of LAMA5 on the background of a hypomorphic Alport syndrome causing mutation is a possible explanation of our findings. 29764427 2018
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 AlteredExpression disease BEFREE Despite lama5 being a known attachment site for GBM, lama5 expression had no effect on U251MG association with blood vessels. 30389143 2018
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.010 AlteredExpression phenotype BEFREE The cystic phenotype overlaps with that of a mouse model, which carried a Lama5 hypomorphic mutation that caused severely reduced Lama5 protein levels and produced kidney cysts. 29764427 2018
CUI: C0027092
Disease: Myopia
Myopia 		0.010 GeneticVariation disease BEFREE Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission. 28544784 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE BCAM and LAMA5 Mediate the Recognition between Tumor Cells and the Endothelium in the Metastatic Spreading of KRAS-Mutant Colorectal Cancer. 27143691 2016
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.010 Biomarker disease BEFREE Perturbation of LAMA5, and possibly other basement membrane components, may cause hypospadias in humans. 27208857 2016
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		0.010 Biomarker disease BEFREE Perturbation of LAMA5, and possibly other basement membrane components, may cause hypospadias in humans. 27208857 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 AlteredExpression disease BEFREE Analysis of human breast cancer cases revealed reduced survival in cases where α3 integrin and LAMA5 are both overexpressed. 24002891 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 AlteredExpression disease BEFREE Analysis of human breast cancer cases revealed reduced survival in cases where α3 integrin and LAMA5 are both overexpressed. 24002891 2014
CUI: C0795949
Disease: Galloway Mowat syndrome
Galloway Mowat syndrome 		0.010 Biomarker disease BEFREE In a cohort of 18 patients with GMS or a GMS-like phenotype we therefore analyzed the genes encoding laminin beta2 (LAMB2), laminin alpha5 (LAMA5), alpha3-integrin (ITGA3), beta1-integrin (ITGB1) and alpha-actinin-4 (ACTN4), but we failed to find causative mutations in these genes. 18594871 2008
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 Biomarker disease LHGDN In HCC cell lines, laminin alpha 5 heterotrimerized with beta and gamma chains and was secreted into the culture media. 18635166 2008