ECEL1, endothelin converting enzyme like 1, 9427

N. diseases: 60; N. variants: 21
Disease: Centronuclear myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.010 GeneticVariation disease BEFREE The histological pattern suggestive of CNM in the fetuses can expand the spectrum of genes causing CNM, as we propose that mutations in ECEL1 can cause CNM or a condition similar to this. 25708584 2015