rs876657388, EDNRA

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
CUI: C4225349
Disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
0.800 GeneticVariation UNIPROT Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia. 25772936 2015
MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
CUI: C4225349
Disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
0.800 CausalMutation CLINVAR
Johnson neuroectodermal syndrome
CUI: C0796002
Disease: Johnson neuroectodermal syndrome
0.010 GeneticVariation BEFREE The fourth individual has a somatic mosaic substitution, p.Glu303Lys, and was previously described as having Johnson-McMillin syndrome. 25772936 2015