Gene: CIB2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10518
Gene Symbol: CIB2
CIB2 		0.350 GeneticVariation disease BEFREE To date, mutations detected in CIB2 are causative for nonsyndromic hearing loss (DFNB48) or Usher syndrome type 1 J. 27771768 2017
Entrez Id: 10518
Gene Symbol: CIB2
CIB2 		0.350 Biomarker disease CLINGEN CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells. 28663585 2017
Entrez Id: 10518
Gene Symbol: CIB2
CIB2 		0.350 Biomarker disease CLINGEN Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea. 28263850 2017
Entrez Id: 10518
Gene Symbol: CIB2
CIB2 		0.350 Biomarker disease BEFREE CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival. 29084757 2017
Entrez Id: 10518
Gene Symbol: CIB2
CIB2 		0.350 Biomarker disease CLINGEN Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. 26226137 2016
Entrez Id: 10518
Gene Symbol: CIB2
CIB2 		0.350 GeneticVariation disease BEFREE Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells. 26173970 2016
Entrez Id: 10518
Gene Symbol: CIB2
CIB2 		0.350 Biomarker disease CLINGEN Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells. 26173970 2016
Entrez Id: 10518
Gene Symbol: CIB2
CIB2 		0.350 Biomarker disease CLINGEN Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents. 27344577 2016
Entrez Id: 10518
Gene Symbol: CIB2
CIB2 		0.350 Biomarker disease CLINGEN Correction: A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family. 26473954 2015
Entrez Id: 10518
Gene Symbol: CIB2
CIB2 		0.350 Biomarker disease CLINGEN Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. 26445815 2015
Entrez Id: 10518
Gene Symbol: CIB2
CIB2 		0.350 GeneticVariation disease BEFREE Here, we report that mutations in CIB2, which encodes a calcium- and integrin-binding protein, are associated with nonsyndromic deafness (DFNB48) and Usher syndrome type 1J (USH1J). 23023331 2012
Entrez Id: 10518
Gene Symbol: CIB2
CIB2 		0.350 Biomarker disease CLINGEN Here, we report that mutations in CIB2, which encodes a calcium- and integrin-binding protein, are associated with nonsyndromic deafness (DFNB48) and Usher syndrome type 1J (USH1J). 23023331 2012
Entrez Id: 10518
Gene Symbol: CIB2
CIB2 		0.350 GeneticVariation disease BEFREE Nonsyndromic deafness locus (DFNB48) segregating as an autosomal recessive trait has been mapped to the long arm of chromosome 15 in bands q23-q25.1 in five large Pakistani families. 15711797 2005