TECTA, tectorin alpha, 7007

N. diseases: 24; N. variants: 28
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Sensorineural Hearing Loss (disorder)
0.160 GeneticVariation disease BEFREE Prevalence of TECTA mutation in patients with mid-frequency sensorineural hearing loss. 28946916 2017
Sensorineural Hearing Loss (disorder)
0.160 GeneticVariation disease BEFREE Novel TECTA mutations identified in stable sensorineural hearing loss and their clinical implications. 25413827 2015
Sensorineural Hearing Loss (disorder)
0.160 GeneticVariation disease BEFREE Although clinical data and genetic analysis for TECTA gene have been reported from different groups, there is no report that compound heterozygous mutations in the TECTA gene result in nonsyndromic sensorineural hearing loss. 22037481 2012
Sensorineural Hearing Loss (disorder)
0.160 GeneticVariation disease BEFREE A novel TECTA mutation (c.5331G>A) was identified affecting alpha-tectorin just N-terminally of the zona pellucida domain in a Dutch family with nonsyndromic autosomal dominant sensorineural hearing impairment. 19005249 2009
Sensorineural Hearing Loss (disorder)
0.160 Biomarker disease BEFREE In this study, five selected members of a Dutch DFNA8/12 family with a TECTA sensorineural hearing impairment were evaluated with pure-tone audiometry, loudness scaling, speech perception in quiet and noise, difference limen for frequency, acoustic reflexes, otoacoustic emissions, and gap detection. 17136632 2007
Sensorineural Hearing Loss (disorder)
0.160 GeneticVariation disease BEFREE Autosomal-dominant, prelingual, nonprogressive sensorineural hearing loss: localization of the gene (DFNA8) to chromosome 11q by linkage in an Austrian family. 9763681 1998
Sensorineural Hearing Loss (disorder)
0.160 GeneticVariation disease CLINVAR
Sensorineural Hearing Loss (disorder)
0.160 Biomarker disease HPO