TECTA, tectorin alpha, 7007

N. diseases: 24; N. variants: 28
Disease: Deafness, Autosomal Dominant 12 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832187
Disease: Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 12 		0.900 Biomarker disease MGD Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane. 24363064 2014
CUI: C1832187
Disease: Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 12 		0.900 CausalMutation disease CLINVAR TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion. 22718023 2012
CUI: C1832187
Disease: Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 12 		0.900 CausalMutation disease CLINVAR DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. 21520338 2011
CUI: C1832187
Disease: Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 12 		0.900 CausalMutation disease CLINVAR Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. 21917145 2011
CUI: C1832187
Disease: Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 12 		0.900 CausalMutation disease CLINVAR Two novel missense mutations in the TECTA gene in Korean families with autosomal dominant nonsyndromic hearing loss. 20947814 2010
CUI: C1832187
Disease: Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 12 		0.900 Biomarker disease MGD A deafness mutation isolates a second role for the tectorial membrane in hearing. 15995703 2005
CUI: C1832187
Disease: Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 12 		0.900 GeneticVariation disease UNIPROT Distinctive audiometric profile associated with DFNB21 alleles of TECTA. 12746400 2003
CUI: C1832187
Disease: Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 12 		0.900 Biomarker disease GENOMICS_ENGLAND An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. 9949200 1999
CUI: C1832187
Disease: Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 12 		0.900 GeneticVariation disease UNIPROT An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. 9949200 1999
CUI: C1832187
Disease: Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 12 		0.900 Biomarker disease CTD_human