| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.310 | Biomarker | disease | CLINGEN | Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene. | 26849169 | 2018 | ||||
|
0.310 | Biomarker | disease | CLINGEN | An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes. | 28173822 | 2017 | ||||
|
0.310 | Biomarker | disease | CLINGEN | DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System. | 27068579 | 2016 | ||||
|
0.310 | Biomarker | disease | CLINGEN | PDZD7-MYO7A complex identified in enriched stereocilia membranes. | 27525485 | 2016 | ||||
|
0.310 | Biomarker | disease | CLINGEN | PDZD7 and hearing loss: More than just a modifier. | 26416264 | 2015 | ||||
|
0.310 | Biomarker | disease | CLINGEN | Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. | 26445815 | 2015 | ||||
|
0.310 | Biomarker | disease | CLINGEN | Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice. | 24334608 | 2014 | ||||
|
0.310 | Biomarker | disease | CLINGEN | Characterization of transcriptomes of cochlear inner and outer hair cells. | 25122905 | 2014 | ||||
|
0.310 | Biomarker | disease | CLINGEN | Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network. | 23055499 | 2012 | ||||
|
0.310 | Biomarker | disease | BEFREE | Collectively, our data provide strong evidence that PDZD7 is a new autosomal-recessive deafness-causing gene and also a prime candidate gene for Usher syndrome. | 19028668 | 2009 | ||||
|
0.310 | Biomarker | disease | 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 |