Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2
0.620 Biomarker disease HPO
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2
0.620 Biomarker disease GENOMICS_ENGLAND Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. 16685658 2006
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2
0.620 Biomarker disease BEFREE Homozygous or compound heterozygous mutations in fibulin-4 (<i>FBLN4</i>) lead to autosomal recessive cutis laxa type 1B (ARCL1B), a multisystem disorder characterized by significant cardiovascular abnormalities, including abnormal elastin assembly, arterial tortuosity, and aortic aneurysms. 28508064 2017
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2
0.620 GeneticVariation disease BEFREE We used a mouse model of postnatal ascending aortic aneurysms ( Fbln4<sup>SMKO</sup>; termed SMKO [SMC-specific knockout]), in which deletion of Fbln4 (fibulin-4) leads to disruption of the elastin-contractile units caused by a loss of elastic lamina-SMC connections. 30355232 2018
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2
0.620 Biomarker disease MGD
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2
0.620 Biomarker disease GENOMICS_ENGLAND Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa. 17937443 2007