TECTA, tectorin alpha, 7007

N. diseases: 24; N. variants: 28
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs140236996
rs140236996
Entrez Id: 7007
Gene Symbol: TECTA
TECTA
CUI: C1832187
Disease:
Deafness, Autosomal Dominant 12
T 0.800 CausalMutation CLINVAR TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion. 22718023 2012
dbSNP: rs140236996
rs140236996
Entrez Id: 7007
Gene Symbol: TECTA
TECTA
CUI: C1832187
Disease:
Deafness, Autosomal Dominant 12
T 0.800 CausalMutation CLINVAR DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. 21520338 2011
dbSNP: rs140236996
rs140236996
Entrez Id: 7007
Gene Symbol: TECTA
TECTA
CUI: C1832187
Disease:
Deafness, Autosomal Dominant 12
T 0.800 CausalMutation CLINVAR Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. 21917145 2011
dbSNP: rs140236996
rs140236996
Entrez Id: 7007
Gene Symbol: TECTA
TECTA
CUI: C1832187
Disease:
Deafness, Autosomal Dominant 12
T 0.800 CausalMutation CLINVAR Two novel missense mutations in the TECTA gene in Korean families with autosomal dominant nonsyndromic hearing loss. 20947814 2010
dbSNP: rs121909058
rs121909058
Entrez Id: 7007
Gene Symbol: TECTA
TECTA
CUI: C1832187
Disease:
Deafness, Autosomal Dominant 12
0.800 GeneticVariation UNIPROT Distinctive audiometric profile associated with DFNB21 alleles of TECTA. 12746400 2003
dbSNP: rs121909059
rs121909059
Entrez Id: 7007
Gene Symbol: TECTA
TECTA
CUI: C1832187
Disease:
Deafness, Autosomal Dominant 12
0.800 GeneticVariation UNIPROT Distinctive audiometric profile associated with DFNB21 alleles of TECTA. 12746400 2003
dbSNP: rs121909060
rs121909060
Entrez Id: 7007
Gene Symbol: TECTA
TECTA
CUI: C1832187
Disease:
Deafness, Autosomal Dominant 12
0.800 GeneticVariation UNIPROT Distinctive audiometric profile associated with DFNB21 alleles of TECTA. 12746400 2003
dbSNP: rs121909061
rs121909061
Entrez Id: 7007
Gene Symbol: TECTA
TECTA
CUI: C1832187
Disease:
Deafness, Autosomal Dominant 12
0.800 GeneticVariation UNIPROT Distinctive audiometric profile associated with DFNB21 alleles of TECTA. 12746400 2003
dbSNP: rs121909063
rs121909063
Entrez Id: 7007
Gene Symbol: TECTA
TECTA
CUI: C1832187
Disease:
Deafness, Autosomal Dominant 12
0.800 GeneticVariation UNIPROT Distinctive audiometric profile associated with DFNB21 alleles of TECTA. 12746400 2003
dbSNP: rs140236996
rs140236996
Entrez Id: 7007
Gene Symbol: TECTA
TECTA
CUI: C1832187
Disease:
Deafness, Autosomal Dominant 12
0.800 GeneticVariation UNIPROT Distinctive audiometric profile associated with DFNB21 alleles of TECTA. 12746400 2003
dbSNP: rs121909058
rs121909058
Entrez Id: 7007
Gene Symbol: TECTA
TECTA
CUI: C1832187
Disease:
Deafness, Autosomal Dominant 12
0.800 GeneticVariation UNIPROT An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. 9949200 1999
dbSNP: rs121909059
rs121909059
Entrez Id: 7007
Gene Symbol: TECTA
TECTA
CUI: C1832187
Disease:
Deafness, Autosomal Dominant 12
0.800 GeneticVariation UNIPROT An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. 9949200 1999
dbSNP: rs121909060
rs121909060
Entrez Id: 7007
Gene Symbol: TECTA
TECTA
CUI: C1832187
Disease:
Deafness, Autosomal Dominant 12
0.800 GeneticVariation UNIPROT An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. 9949200 1999
dbSNP: rs121909061
rs121909061
Entrez Id: 7007
Gene Symbol: TECTA
TECTA
CUI: C1832187
Disease:
Deafness, Autosomal Dominant 12
0.800 GeneticVariation UNIPROT An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. 9949200 1999
dbSNP: rs121909063
rs121909063
Entrez Id: 7007
Gene Symbol: TECTA
TECTA
CUI: C1832187
Disease:
Deafness, Autosomal Dominant 12
0.800 GeneticVariation UNIPROT An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. 9949200 1999
dbSNP: rs140236996
rs140236996
Entrez Id: 7007
Gene Symbol: TECTA
TECTA
CUI: C1832187
Disease:
Deafness, Autosomal Dominant 12
0.800 GeneticVariation UNIPROT An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. 9949200 1999
dbSNP: rs121909058
rs121909058
Entrez Id: 7007
Gene Symbol: TECTA
TECTA
CUI: C1832187
Disease:
Deafness, Autosomal Dominant 12
G 0.800 CausalMutation CLINVAR
dbSNP: rs121909059
rs121909059
Entrez Id: 7007
Gene Symbol: TECTA
TECTA
CUI: C1832187
Disease:
Deafness, Autosomal Dominant 12
A 0.800 CausalMutation CLINVAR
dbSNP: rs121909060
rs121909060
Entrez Id: 7007
Gene Symbol: TECTA
TECTA
CUI: C1832187
Disease:
Deafness, Autosomal Dominant 12
C 0.800 CausalMutation CLINVAR
dbSNP: rs121909061
rs121909061
Entrez Id: 7007
Gene Symbol: TECTA
TECTA
CUI: C1832187
Disease:
Deafness, Autosomal Dominant 12
G 0.800 CausalMutation CLINVAR
dbSNP: rs121909061
rs121909061
Entrez Id: 7007
Gene Symbol: TECTA
TECTA
CUI: C1832187
Disease:
Deafness, Autosomal Dominant 12
C 0.800 CausalMutation CLINVAR
dbSNP: rs121909063
rs121909063
Entrez Id: 7007
Gene Symbol: TECTA
TECTA
CUI: C1832187
Disease:
Deafness, Autosomal Dominant 12
T 0.800 CausalMutation CLINVAR
dbSNP: rs121909062
rs121909062
Entrez Id: 7007
Gene Symbol: TECTA
TECTA
CUI: C1832187
Disease:
Deafness, Autosomal Dominant 12
0.700 GeneticVariation UNIPROT Distinctive audiometric profile associated with DFNB21 alleles of TECTA. 12746400 2003
dbSNP: rs138768918
rs138768918
Entrez Id: 7007
Gene Symbol: TECTA
TECTA
CUI: C1832187
Disease:
Deafness, Autosomal Dominant 12
0.700 GeneticVariation UNIPROT Distinctive audiometric profile associated with DFNB21 alleles of TECTA. 12746400 2003
dbSNP: rs1428598791
rs1428598791
Entrez Id: 7007
Gene Symbol: TECTA
TECTA
CUI: C1832187
Disease:
Deafness, Autosomal Dominant 12
0.700 GeneticVariation UNIPROT Distinctive audiometric profile associated with DFNB21 alleles of TECTA. 12746400 2003