EDN1, endothelin 1, 1906

N. diseases: 679; N. variants: 23
Disease: Auriculo-condylar syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1865295
Disease: Auriculo-condylar syndrome
Auriculo-condylar syndrome 		0.620 Biomarker disease BEFREE In order to address these questions, we searched for alterations in PLCB4, GNAI3, and EDN1 in patients with typical Auriculocondylar syndrome (n = 3), Pierre Robin sequence-plus (n = 3), micrognathia with additional craniofacial malformations (n = 4), or non-specific auricular dysplasia (n = 1), which could represent subtypes of Auriculocondylar syndrome. 28328130 2017
CUI: C1865295
Disease: Auriculo-condylar syndrome
Auriculo-condylar syndrome 		0.620 GermlineCausalMutation disease ORPHANET These findings provide further support for the hypothesis that ACS and QMEs are uniquely caused by disruption of the EDN1-EDNRA signaling pathway. 24268655 2013
CUI: C1865295
Disease: Auriculo-condylar syndrome
Auriculo-condylar syndrome 		0.620 GeneticVariation disease BEFREE Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. 24268655 2013
CUI: C1865295
Disease: Auriculo-condylar syndrome
Auriculo-condylar syndrome 		0.620 Biomarker disease CTD_human
CUI: C1865295
Disease: Auriculo-condylar syndrome
Auriculo-condylar syndrome 		0.620 Biomarker disease GENOMICS_ENGLAND