LAMA2, laminin subunit alpha 2, 3908

N. diseases: 167; N. variants: 127
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4022749
Disease: Abnormal brainstem MRI signal intensity
Abnormal brainstem MRI signal intensity 		0.100 Biomarker phenotype HPO
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		0.100 Biomarker phenotype HPO
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		0.100 Biomarker phenotype HPO
CUI: C4025843
Disease: Abnormality of refraction
Abnormality of refraction 		0.100 GeneticVariation disease GWASCAT Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. 23396134 2013
CUI: C1865318
Disease: Abnormality of the temporomandibular joint
Abnormality of the temporomandibular joint 		0.100 Biomarker phenotype HPO
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.100 Biomarker phenotype HPO
CUI: C4021055
Disease: Absent muscle fiber merosin
Absent muscle fiber merosin 		0.100 Biomarker phenotype HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		0.100 Biomarker disease HPO
CUI: C2712334
Disease: Actual Aspiration
Actual Aspiration 		0.100 Biomarker phenotype HPO
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: C0278874
Disease: Adult Ependymoma
Adult Ependymoma 		0.010 Biomarker disease BEFREE As laminin α2 has recently been identified as a molecular marker of aggressive ependymoma, we propose that the brain vascular ECM promotes tumor malignancy through maintenance of the GSC compartment, providing not only a molecular fingerprint but also a possible therapeutic target. 23280793 2012
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 Biomarker disease BEFREE Laminin alpha 2 enables glioblastoma stem cell growth. 23280793 2012
CUI: C0002438
Disease: Amebiasis
Amebiasis 		0.010 AlteredExpression disease BEFREE The significant enriched pathway (PI3K-Akt) for up-regulated genes such as COL4A1, COL4A2, EGFR, FGFR1, LAPR6, MYC, PDGFA, SPP1 were selected as well as significant GO term (ear development) for up-regulated genes such as CELSR1, CHRNA9, DDR1, FGFR1, GLI2, LGR5, SOX2, TSHR were selected, while the significant enriched pathway (amebiasis) for down-regulated gene such as COL3A1, COL5A2, LAMA2 were selected as well as significant GO term (RNA polymerase II core promoter proximal region sequence-specific binding (5) such as MEIS2, MEOX2, NR2E1, PITX2, TFAP2B, ZFPM2 were selected. 28952134 2017
CUI: C0013370
Disease: Amebic colitis
Amebic colitis 		0.010 AlteredExpression disease BEFREE The significant enriched pathway (PI3K-Akt) for up-regulated genes such as COL4A1, COL4A2, EGFR, FGFR1, LAPR6, MYC, PDGFA, SPP1 were selected as well as significant GO term (ear development) for up-regulated genes such as CELSR1, CHRNA9, DDR1, FGFR1, GLI2, LGR5, SOX2, TSHR were selected, while the significant enriched pathway (amebiasis) for down-regulated gene such as COL3A1, COL5A2, LAMA2 were selected as well as significant GO term (RNA polymerase II core promoter proximal region sequence-specific binding (5) such as MEIS2, MEOX2, NR2E1, PITX2, TFAP2B, ZFPM2 were selected. 28952134 2017
CUI: C1963221
Disease: Aspiration, CTCAE
Aspiration, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C3887640
Disease: Astrocytosis
Astrocytosis 		0.100 Biomarker phenotype HPO
CUI: C0004144
Disease: Atelectasis
Atelectasis 		0.100 Biomarker phenotype HPO
CUI: C0343239
Disease: Benign congenital hypotonia
Benign congenital hypotonia 		0.010 Biomarker disease BEFREE MDC1A usually presents as a severe neonatal hypotonia and failure to thrive. 30055037 2018
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.300 Biomarker disease CTD_human Identification of novel gene targets and putative regulators of arsenic-associated DNA methylation in human urothelial cells and bladder cancer. 26039340 2015
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		0.100 Biomarker phenotype HPO
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		0.100 Biomarker disease BEFREE We have previously employed profiling techniques to elucidate molecular patterns and demonstrated significant metabolic impairment in skeletal muscle from LAMA2-CMD patients and mouse models. 30389963 2018
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		0.100 GeneticVariation disease BEFREE Forty-one patients with CMD, either collagen 6 related disorders (COL6-RD; n = 21) or laminin α-2-related disorders (LAMA2-RD; n = 20), and 21 healthy pediatric controls underwent 2 yearly EIM exams. 28224647 2018