Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25861
Gene Symbol: WHRN
WHRN
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.940 Biomarker CLINGEN Gene Therapy Restores Balance and Auditory Functions in a Mouse Model of Usher Syndrome. 28254438

2017
Entrez Id: 25861
Gene Symbol: WHRN
WHRN
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.940 Biomarker CLINGEN WHRN (DFNB31) mutations cause diverse hearing disorders: profound deafness (DFNB31) or variable hearing loss in Usher syndrome type II. 27117407

2016
Entrez Id: 25861
Gene Symbol: WHRN
WHRN
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.940 Biomarker CLINGEN Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. 26338283

2015
Entrez Id: 25861
Gene Symbol: WHRN
WHRN
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.940 Biomarker CLINGEN Non-USH2A mutations in USH2 patients. 22147658

2012
Entrez Id: 25861
Gene Symbol: WHRN
WHRN
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.940 Biomarker CLINGEN A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family. 21738389

2011
Entrez Id: 25861
Gene Symbol: WHRN
WHRN
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.940 Biomarker CLINGEN Mice carrying a targeted disruption near the N-terminus of whirlin manifest retinal and inner ear defects, reproducing the clinical features of human USH2 disease. 20502675

2010
Entrez Id: 25861
Gene Symbol: WHRN
WHRN
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.940 Biomarker CLINGEN A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss. 17171570

2007
Entrez Id: 25861
Gene Symbol: WHRN
WHRN
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.940 Biomarker CLINGEN The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. 16434480

2006
Entrez Id: 25861
Gene Symbol: WHRN
WHRN
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.940 Biomarker CLINGEN Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. 12833159

2003