Gene: EFEMP2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2 		0.500 Biomarker disease CLINGEN Loss of fibulin-4 disrupts collagen synthesis and maturation: implications for pathology resulting from EFEMP2 mutations. 26220971 2015
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2 		0.500 Biomarker disease CLINGEN Fibulin-4 E57K Knock-in Mice Recapitulate Cutaneous, Vascular and Skeletal Defects of Recessive Cutis Laxa 1B with both Elastic Fiber and Collagen Fibril Abnormalities. 26178373 2015
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2 		0.500 Biomarker disease CLINGEN Decreased expression of fibulin-4 in aortic wall of aortic dissection. 23518852 2014
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2 		0.500 Biomarker disease CLINGEN Recessively inherited severe aortic aneurysm caused by mutated EFEMP2. 22440127 2012
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2 		0.500 Biomarker disease CLINGEN Fibulin-4 deficiency results in ascending aortic aneurysms: a potential link between abnormal smooth muscle cell phenotype and aneurysm progression. 20019329 2010
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2 		0.500 Biomarker disease CLINGEN Fibulin-4 conducts proper elastogenesis via interaction with cross-linking enzyme lysyl oxidase. 19855011 2009
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2 		0.500 Biomarker disease CLINGEN Perturbations of vascular homeostasis and aortic valve abnormalities in fibulin-4 deficient mice. 17293478 2007
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2 		0.500 Biomarker disease CLINGEN Targeted disruption of fibulin-4 abolishes elastogenesis and causes perinatal lethality in mice. 16478991 2006
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2 		0.500 Biomarker disease GENOMICS_ENGLAND