WHRN, whirlin, 25861

N. diseases: 50; N. variants: 10
Disease: Hereditary retinal dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		0.500 Biomarker group CLINGEN Gene Therapy Restores Balance and Auditory Functions in a Mouse Model of Usher Syndrome. 28254438 2017
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		0.500 Biomarker group CLINGEN Alternative Splice Forms Influence Functions of Whirlin in Mechanosensory Hair Cell Stereocilia. 27117407 2016
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		0.500 Biomarker group CLINGEN Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. 26338283 2015
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		0.500 Biomarker group CLINGEN Non-USH2A mutations in USH2 patients. 22147658 2012
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		0.500 Biomarker group CLINGEN A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family. 21738389 2011
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		0.500 Biomarker group MGD Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss. 20502675 2010
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		0.500 Biomarker group CLINGEN Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss. 20502675 2010
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		0.500 Biomarker group 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
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		0.500 Biomarker group 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
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		0.500 Biomarker group CLINGEN Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. 12833159 2003