Gene: ECE1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1889
Gene Symbol: ECE1
ECE1 		0.410 Biomarker disease CTD_human A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. 9915973 1999
Entrez Id: 1889
Gene Symbol: ECE1
ECE1 		0.410 GeneticVariation disease BEFREE Mutations in ECE-1 may cause developmental defects in humans, such as Hirschsprung disease, velocardiofacial syndrome and related neurocristopathies. 9449665 1998
Entrez Id: 1889
Gene Symbol: ECE1
ECE1 		0.410 GeneticVariation disease CLINVAR
Entrez Id: 1889
Gene Symbol: ECE1
ECE1 		0.410 Biomarker disease HPO