Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1
CUI: C1568248
Disease: Usher Syndrome, Type III
Usher Syndrome, Type III 		1.000 Biomarker CLINGEN Impairment of Vision in a Mouse Model of Usher Syndrome Type III. 26943149

2016
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1
CUI: C1568248
Disease: Usher Syndrome, Type III
Usher Syndrome, Type III 		1.000 Biomarker CLINGEN Because the CLRN1(N48K) mutation causes both hearing and vision loss, BF844 could in principle prevent both sensory deficiencies in patients with USH3. 27110679

2016
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1
CUI: C1568248
Disease: Usher Syndrome, Type III
Usher Syndrome, Type III 		1.000 Biomarker CLINGEN Strategies for genetic study of hearing loss in the Brazilian northeastern region. 24596593

2014
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1
CUI: C1568248
Disease: Usher Syndrome, Type III
Usher Syndrome, Type III 		1.000 Biomarker CLINGEN The cone-dominant retina and the inner ear of zebrafish express the ortholog of CLRN1, the causative gene of human Usher syndrome type 3A. 24045267

2013
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1
CUI: C1568248
Disease: Usher Syndrome, Type III
Usher Syndrome, Type III 		1.000 Biomarker CLINGEN Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. 22135276

2012
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1
CUI: C1568248
Disease: Usher Syndrome, Type III
Usher Syndrome, Type III 		1.000 Biomarker CLINGEN The mechanosensory structure of the hair cell requires clarin-1, a protein encoded by Usher syndrome III causative gene. 22787034

2012
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1
CUI: C1568248
Disease: Usher Syndrome, Type III
Usher Syndrome, Type III 		1.000 Biomarker CLINGEN Role for a novel Usher protein complex in hair cell synaptic maturation. 22363448

2012
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1
CUI: C1568248
Disease: Usher Syndrome, Type III
Usher Syndrome, Type III 		1.000 Biomarker CLINGEN This analysis revealed the presence of a novel homozygous 5-bp deletion, in Clarin 1 (CLRN1), a known gene responsible for Usher syndrome type III. 21675857

2011
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1
CUI: C1568248
Disease: Usher Syndrome, Type III
Usher Syndrome, Type III 		1.000 Biomarker CLINGEN Localization and expression of clarin-1, the Clrn1 gene product, in auditory hair cells and photoreceptors. 19539019

2009
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1
CUI: C1568248
Disease: Usher Syndrome, Type III
Usher Syndrome, Type III 		1.000 Biomarker CLINGEN To determine the effects of USH3 mutations on CLRN1 function, we examined the cellular distribution and stability of both normal and mutant CLRN1 in vitro. 19753315

2009
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1
CUI: C1568248
Disease: Usher Syndrome, Type III
Usher Syndrome, Type III 		1.000 Biomarker CLINGEN Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. 11524702

2001