EPHA4, EPH receptor A4, 2043

N. diseases: 118; N. variants: 12
Disease: Waardenburg Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.010 GeneticVariation disease BEFREE EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome. 25928000 2015