EDN1, endothelin 1, 1906

N. diseases: 679; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3810332
Disease: AURICULOCONDYLAR SYNDROME 3
AURICULOCONDYLAR SYNDROME 3
0.400 GeneticVariation disease UNIPROT Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. 24268655 2013
CUI: C3810332
Disease: AURICULOCONDYLAR SYNDROME 3
AURICULOCONDYLAR SYNDROME 3
0.400 CausalMutation disease CLINVAR