ECEL1, endothelin converting enzyme like 1, 9427

N. diseases: 60; N. variants: 21
Disease: Multiple congenital anomalies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR ECEL1 mutation causes fetal arthrogryposis multiplex congenita. 25708584 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1. 24782201 2014
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Distal arthrogryposis type 5D with a novel ECEL1 gene mutation. 25099528 2014
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Mutations in ECEL1 cause distal arthrogryposis type 5D. 23261301 2013
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. 23236030 2013