Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		0.020 GeneticVariation BEFREE Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene. 24838734

2014
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		0.020 GeneticVariation BEFREE We describe a syndrome of lethal arteriopathy associated with a novel, identical mutation in the fibulin 4 gene (FBLN4) in a unique cohort of infants from South India. 22943132

2012