Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 494513
Gene Symbol: PJVK
PJVK
0.330 Biomarker disease CLINGEN Pejvakin, a Candidate Stereociliary Rootlet Protein, Regulates Hair Cell Function in a Cell-Autonomous Manner. 28209736 2017
Entrez Id: 494513
Gene Symbol: PJVK
PJVK
0.330 Biomarker disease CLINGEN Conditional deletion of pejvakin in adult outer hair cells causes progressive hearing loss in mice. 28089576 2017
Entrez Id: 494513
Gene Symbol: PJVK
PJVK
0.330 Biomarker disease CLINGEN Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families. 28964305 2017
Entrez Id: 494513
Gene Symbol: PJVK
PJVK
0.330 Biomarker disease CLINGEN Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes. 26544938 2015
Entrez Id: 494513
Gene Symbol: PJVK
PJVK
0.330 Biomarker disease CLINGEN Identification of a novel mutation of PJVK in the Chinese non-syndromic hearing loss population with low prevalence of the PJVK mutations. 25631766 2015
Entrez Id: 494513
Gene Symbol: PJVK
PJVK
0.330 Biomarker disease CLINGEN Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing. 26166082 2015
Entrez Id: 494513
Gene Symbol: PJVK
PJVK
0.330 GeneticVariation disease BEFREE Mutations in PJVK, encoding Pejvakin, cause autosomal recessive nonsyndromic hearing loss in humans at the DFNB59 locus on chromosome 2q31.2. 22617256 2012
Entrez Id: 494513
Gene Symbol: PJVK
PJVK
0.330 Biomarker disease CLINGEN Mutations in PJVK, encoding Pejvakin, cause autosomal recessive nonsyndromic hearing loss in humans at the DFNB59 locus on chromosome 2q31.2. 22617256 2012
Entrez Id: 494513
Gene Symbol: PJVK
PJVK
0.330 GeneticVariation disease BEFREE Together, our data indicate that also nonsense mutations in DFNB59 cause nonsyndromic hearing loss, but that mutations in DFNB59 are not a major cause of nonsyndromic hearing impairment in the Turkish and Dutch population. 17373699 2007
Entrez Id: 494513
Gene Symbol: PJVK
PJVK
0.330 Biomarker disease CLINGEN Together, our data indicate that also nonsense mutations in DFNB59 cause nonsyndromic hearing loss, but that mutations in DFNB59 are not a major cause of nonsyndromic hearing impairment in the Turkish and Dutch population. 17373699 2007
Entrez Id: 494513
Gene Symbol: PJVK
PJVK
0.330 Biomarker disease CLINGEN Unlike previously described sensorineural deafness genes, all of which underlie cochlear cell pathologies, DFNB59 is the first human gene implicated in nonsyndromic deafness due to a neuronal defect. 16804542 2006
Entrez Id: 494513
Gene Symbol: PJVK
PJVK
0.330 Biomarker disease BEFREE Unlike previously described sensorineural deafness genes, all of which underlie cochlear cell pathologies, DFNB59 is the first human gene implicated in nonsyndromic deafness due to a neuronal defect. 16804542 2006