Disease: Corneal anesthesia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271291
Disease: Corneal anesthesia
Corneal anesthesia 		0.010 GeneticVariation phenotype BEFREE We report the case of a 6-year-old girl with a SCN9A mutation who presented with both gain of function and loss of function phenotypes, including congenital corneal anesthesia. 26486037 2015