LAMB1, laminin subunit beta 1, 3912

N. diseases: 75; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554657
Disease: LISSENCEPHALY 5
LISSENCEPHALY 5 		0.700 Biomarker disease GENOMICS_ENGLAND Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations. 25925986 2015
CUI: C3554657
Disease: LISSENCEPHALY 5
LISSENCEPHALY 5 		0.700 GermlineCausalMutation disease ORPHANET Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. 23472759 2013
CUI: C3554657
Disease: LISSENCEPHALY 5
LISSENCEPHALY 5 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. 23472759 2013
CUI: C3554657
Disease: LISSENCEPHALY 5
LISSENCEPHALY 5 		0.700 Biomarker disease CLINGEN Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. 23472759 2013
CUI: C3554657
Disease: LISSENCEPHALY 5
LISSENCEPHALY 5 		0.700 Biomarker disease CLINGEN Laminin beta1 and gamma1 containing laminins are essential for basement membrane integrity in the zebrafish eye. 17525174 2007
CUI: C3554657
Disease: LISSENCEPHALY 5
LISSENCEPHALY 5 		0.700 Biomarker disease GENOMICS_ENGLAND Laminin beta1 and gamma1 containing laminins are essential for basement membrane integrity in the zebrafish eye. 17525174 2007
CUI: C3554657
Disease: LISSENCEPHALY 5
LISSENCEPHALY 5 		0.700 GeneticVariation disease CLINVAR
CUI: C3554657
Disease: LISSENCEPHALY 5
LISSENCEPHALY 5 		0.700 CausalMutation disease CLINVAR
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.330 GeneticVariation disease BEFREE LAMB1 polymorphism is associated with autism symptom severity in Korean autism spectrum disorder patients. 25774865 2015
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.330 Biomarker disease BEFREE The LAMB1 gene, associated with mucosal basement membrane integrity, was associated with early onset ulcerative colitis and, thus, suggests a fundamentally different mechanism of early disease pathogenesis in ulcerative colitis versus Crohn's disease. 25664710 2015
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.330 Biomarker disease BEFREE Despite our large sequencing approach, we could not identify protein altering variants in the genes HNF4A, ECM1, CDH1 and LAMB1 which could explain an impaired intestinal barrier function in UC. 26512799 2015
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.330 Biomarker disease BEFREE Genetic evidence has also demonstrated the importance of barrier function to the development of ulcerative colitis (HNF4A, LAMB1, CDH1 and GNA12). 21300624 2011
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.330 Biomarker disease CTD_human Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. 19915572 2009
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.330 Biomarker disease CTD_human Analysis of genetic variants provided evidence for association with autism for one of the new missense changes identified in LAMB1; this effect was stronger in a subgroup of affected male sibling pair families, implying a possible specific sex-related effect for this variant. 15523497 2005
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.330 GeneticVariation disease BEFREE Analysis of genetic variants provided evidence for association with autism for one of the new missense changes identified in LAMB1; this effect was stronger in a subgroup of affected male sibling pair families, implying a possible specific sex-related effect for this variant. 15523497 2005
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.330 Biomarker disease BEFREE Four candidate genes (NRCAM, LRRN3, KIAA0716, and LAMB1) in this region were chosen for examination based on their proximity to the marker most consistently cosegregating with autism in these families (D7S1817), their tissue expression patterns, and likely biological relevance to autism. 15128462 2004
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.310 Biomarker disease CTD_human Compared with normal groups, mRNA levels of LAMB1 were up-regulated in lung tissues of patients with pulmonary fibrosis. 28444932 2017
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.310 AlteredExpression disease BEFREE Compared with normal groups, mRNA levels of LAMB1 were up-regulated in lung tissues of patients with pulmonary fibrosis. 28444932 2017
CUI: C4721507
Disease: Alveolitis, Fibrosing
Alveolitis, Fibrosing 		0.300 Biomarker disease CTD_human The association of LAMB1 polymorphism and expression changes with the risk of coal workers' pneumoconiosis. 28444932 2017
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.300 Biomarker disease CTD_human Molecular evidence for differences in endometrium in severe versus mild endometriosis. 21063030 2011
CUI: C0269102
Disease: Endometrioma
Endometrioma 		0.300 Biomarker disease CTD_human Molecular evidence for differences in endometrium in severe versus mild endometriosis. 21063030 2011
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.300 Biomarker disease CTD_human Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease. 18809619 2008
CUI: C4554007
Disease: Uveoretinal Coloboma
Uveoretinal Coloboma 		0.300 Biomarker disease CTD_human Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease. 18809619 2008
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.300 Biomarker disease CTD_human
CUI: C0266483
Disease: Pachygyria
Pachygyria 		0.300 Biomarker disease CTD_human