EDN1, endothelin 1, 1906

N. diseases: 679; N. variants: 23
Disease: QUESTION MARK EARS, ISOLATED ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2748545
Disease: QUESTION MARK EARS, ISOLATED
QUESTION MARK EARS, ISOLATED 		0.410 GeneticVariation disease UNIPROT Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. 24268655 2013
CUI: C2748545
Disease: QUESTION MARK EARS, ISOLATED
QUESTION MARK EARS, ISOLATED 		0.410 GeneticVariation disease BEFREE Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. 24268655 2013
CUI: C2748545
Disease: QUESTION MARK EARS, ISOLATED
QUESTION MARK EARS, ISOLATED 		0.410 CausalMutation disease CLINVAR