EDN1, endothelin 1, 1906

N. diseases: 679; N. variants: 23
Disease: Auriculocondylar syndrome 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1 		0.610 GeneticVariation disease BEFREE Auriculocondylar syndrome and isolated question mark ear result from dysregulation of the endothelin 1-endothelin receptor type A signaling pathway. 28456137 2018
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1 		0.610 Biomarker disease GENOMICS_ENGLAND Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. 24268655 2013
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1 		0.610 Biomarker disease HPO
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1 		0.610 Biomarker disease CTD_human