Gene: ECEL1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1 		0.030 GeneticVariation group BEFREE The finding expands the molecular basis of congenital contractures and the phenotypic spectrum of ECEL1 mutations. 25708584 2015
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1 		0.030 Biomarker group BEFREE This report expands on the molecular basis and the phenotypic spectrum of ECEL1-associated congenital contracture syndromes. 23808592 2014
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1 		0.030 Biomarker group BEFREE DA type 5D (DA5D) is a rare, autosomal-recessive DA previously defined by us and is characterized by congenital contractures of the hands and feet, along with distinctive facial features, including ptosis. 23261301 2013