NUP42, nucleoporin 42, 11097

N. diseases: 11; N. variants: 1
Disease: DEAFNESS, AUTOSOMAL DOMINANT 5 (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832932
Disease: DEAFNESS, AUTOSOMAL DOMINANT 5 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 5 (disorder) 		0.010 GeneticVariation disease BEFREE Mutation analysis of the CG1 gene in DFNA5 patients, however, could not reveal a disease-causing mutation. 9450185 1998