LAMB1, laminin subunit beta 1, 3912

N. diseases: 75; N. variants: 14
Disease: LISSENCEPHALY 5 ×
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