Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79955
Gene Symbol: PDZD7
PDZD7
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.310 Biomarker CLINGEN Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene. 26849169

2018

Entrez Id: 79955
Gene Symbol: PDZD7
PDZD7
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.310 Biomarker CLINGEN An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes. 28173822

2017

Entrez Id: 79955
Gene Symbol: PDZD7
PDZD7
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.310 Biomarker CLINGEN DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System. 27068579

2016

Entrez Id: 79955
Gene Symbol: PDZD7
PDZD7
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.310 Biomarker CLINGEN PDZD7-MYO7A complex identified in enriched stereocilia membranes. 27525485

2016

Entrez Id: 79955
Gene Symbol: PDZD7
PDZD7
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.310 Biomarker CLINGEN PDZD7 and hearing loss: More than just a modifier. 26416264

2015

Entrez Id: 79955
Gene Symbol: PDZD7
PDZD7
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.310 Biomarker CLINGEN Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. 26445815

2015

Entrez Id: 79955
Gene Symbol: PDZD7
PDZD7
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.310 Biomarker CLINGEN Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice. 24334608

2014

Entrez Id: 79955
Gene Symbol: PDZD7
PDZD7
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.310 Biomarker CLINGEN Characterization of transcriptomes of cochlear inner and outer hair cells. 25122905

2014

Entrez Id: 79955
Gene Symbol: PDZD7
PDZD7
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.310 Biomarker CLINGEN Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network. 23055499

2012

Entrez Id: 79955
Gene Symbol: PDZD7
PDZD7
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.310 Biomarker CLINGEN Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment. 19028668

2009