PJVK (pejvakin)

2017-09-01 Affiliation

HGNC

PJVK

LOCATION

2q31.2

LOCUSID

494513

ALIAS

DFNB59

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

dbSNP: 494513
ClinVar: 494513
TCGA: ENSG00000204311
COSMIC: PJVK

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
20739942	2010	Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.	20
26166082	2015	Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing.	14
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	11
28964305	2017	Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families.	3
21935370	2011	Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder.	2
30582396	2019	Targeted Mutation Analysis of the SLC26A4, MYO6, PJVK and CDH23 Genes in Iranian Patients with AR Nonsyndromic Hearing Loss.	1
16804542	2006	Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.	0
17301963	2007	Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.	0
17373699	2007	Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.	0

Dessen P

PJVK (pejvakin)

Atlas Genet Cytogenet Oncol Haematol. 2017-09-01