Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.310 Biomarker disease CLINGEN Distinct Expression Pattern of a Deafness Gene, KIAA1199, in a Primate Cochlea. 27403418 2016
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.310 Biomarker disease CLINGEN The localization of proteins encoded by CRYM, KIAA1199, UBA52, COL9A3, and COL9A1, genes highly expressed in the cochlea. 18448257 2008
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.310 AlteredExpression disease BEFREE Mutations in the gene encoding KIAA1199 protein, an inner-ear protein expressed in Deiters' cells and the fibrocytes, as the cause of nonsyndromic hearing loss. 14577002 2003
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.310 Biomarker disease CLINGEN Mutations in the gene encoding KIAA1199 protein, an inner-ear protein expressed in Deiters' cells and the fibrocytes, as the cause of nonsyndromic hearing loss. 14577002 2003