Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2
0.120 GeneticVariation disease BEFREE To date, several mutations in the fibulin-4 gene (FBLN4/EFEMP2) are known in patients whose major symptoms are vascular deformities, aneurysm, cutis laxa, joint laxity, or arachnodactyly. 27339457 2016
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2
0.120 GeneticVariation disease BEFREE Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation. 19664000 2009
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2
0.120 Biomarker disease HPO