TECTA, tectorin alpha, 7007

N. diseases: 24; N. variants: 28
Disease: Nonsyndromic Deafness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.330 Biomarker disease CLINGEN A novel TECTA mutation causes ARNSHL. 28012541 2017
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.330 Biomarker disease CLINGEN Tectorins crosslink type II collagen fibrils and connect the tectorial membrane to the spiral limbus. 26806019 2016
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.330 Biomarker disease CLINGEN Otolith tethering in the zebrafish otic vesicle requires Otogelin and α-Tectorin. 25758224 2015
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.330 Biomarker disease CLINGEN Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population. 25719458 2015
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.330 GeneticVariation disease BEFREE A novel mutation in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss. 24586623 2014
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.330 Biomarker disease CLINGEN Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane. 24363064 2014
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.330 GeneticVariation disease BEFREE A novel missense mutation c.6016 G > T (p.Asp2006Tyr) of TECTA gene is a characteristic TECTA-related mutation which causes autosomal dominant nonsyndromic hearing loss. 25008054 2014
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.330 Biomarker disease CLINGEN TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion. 22718023 2012
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.330 Biomarker disease CLINGEN DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. 21520338 2011
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.330 Biomarker disease CLINGEN Deficient forward transduction and enhanced reverse transduction in the alpha tectorin C1509G human hearing loss mutation. 20142329 2010
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.330 Biomarker disease CLINGEN A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families. 18022253 2008
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.330 Biomarker disease CLINGEN Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus. 17431902 2007
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.330 Biomarker disease CLINGEN A deafness mutation isolates a second role for the tectorial membrane in hearing. 15995703 2005
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.330 Biomarker disease CLINGEN A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations. 15319541 2004
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.330 Biomarker disease CLINGEN Distinctive audiometric profile associated with DFNB21 alleles of TECTA. 12746400 2003
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.330 Biomarker disease CLINGEN Quantification of TECTA and DFNA5 expression in the developing mouse cochlea. 11711860 2001
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.330 Biomarker disease CLINGEN A targeted deletion in alpha-tectorin reveals that the tectorial membrane is required for the gain and timing of cochlear feedback. 11087000 2000
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.330 Biomarker disease CLINGEN An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. 9949200 1999
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.330 GeneticVariation disease BEFREE Mapping of the alpha-tectorin gene (TECTA) to mouse chromosome 9 and human chromosome 11: a candidate for human autosomal dominant nonsyndromic deafness. 9503015 1998
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.330 Biomarker disease CLINGEN Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. 9590290 1998