×
Entrez Id:
326
Gene Symbol:
AIRE
AIRE
0.010
GeneticVariation
disease
BEFREE
Given its mapping position, C21orf2 is a candidate for involvement in disorders including autoimmune polyglandular disease type I (also called autoimmune polyendocrinopathy candidiasis ectodermal dystrophy or APECED ) and the autosomal nonsyndromic deafness loci, DFNB8 and DFNB10.
9465297
1998
×
Entrez Id:
7007
Gene Symbol:
TECTA
TECTA
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
×
Entrez Id:
5459
Gene Symbol:
POU4F3
POU4F3
0.360
Biomarker
disease
CLINGEN
Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans.
9506947
1998
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
0.200
GeneticVariation
disease
BEFREE
The missense mutation 101T-->C has been reported to be a dominant allele of DFNA3 , a dominant nonsyndromic hearing loss .
9529365
1998
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.100
GeneticVariation
disease
BEFREE
The missense mutation 101T-->C has been reported to be a dominant allele of DFNA3 , a dominant nonsyndromic hearing loss .
9529365
1998
×
Entrez Id:
7007
Gene Symbol:
TECTA
TECTA
0.330
Biomarker
disease
CLINGEN
Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment.
9590290
1998
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.100
GeneticVariation
disease
BEFREE
This assay can be used to screen individuals with nonsyndromic hearing loss for mutations in the CX26 gene.
9600457
1998
×
Entrez Id:
51168
Gene Symbol:
MYO15A
MYO15A
0.480
Biomarker
disease
CLINGEN
Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene.
9603735
1998
×
Entrez Id:
51168
Gene Symbol:
MYO15A
MYO15A
0.480
GeneticVariation
disease
BEFREE
Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3 .
9603736
1998
×
Entrez Id:
1687
Gene Symbol:
GSDME
GSDME
0.050
GeneticVariation
disease
BEFREE
Nonsyndromic hearing impairment is associated with a mutation in DFNA5 .
9771715
1998
×
Entrez Id:
1690
Gene Symbol:
COCH
COCH
0.340
Biomarker
disease
CLINGEN
Mutations in a novel cochlear gene cause DFNA9 , a human nonsyndromic deafness with vestibular dysfunction.
9806553
1998
×
Entrez Id:
2707
Gene Symbol:
GJB3
GJB3
0.500
Biomarker
disease
CLINGEN
Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.
9843210
1998
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
0.400
GeneticVariation
disease
BEFREE
For example, mutations in the gene encoding MYO7A cause Usher syndrome type IB, autosomal-recessive nonsyndromic hearing impairment (DFNB2), and autosomal-dominant nonsyndromic hearing impairment (DFNA11).
9927480
1999
×
Entrez Id:
7007
Gene Symbol:
TECTA
TECTA
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
×
Entrez Id:
9132
Gene Symbol:
KCNQ4
KCNQ4
0.390
Biomarker
disease
CLINGEN
KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.
10025409
1999
×
Entrez Id:
51168
Gene Symbol:
MYO15A
MYO15A
0.480
Biomarker
disease
BEFREE
We report the construction of a physical map of the region of mouse chromosome 11 that encompasses shaker-2 (sh2), a model for the human nonsyndromic deafness DFNB3 .
10049592
1999
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.100
GeneticVariation
disease
BEFREE
Approximately 50% of childhood nonsyndromic recessive hearing loss is caused by mutations in the connexin 26 (Cx26 ) gene (GJB2/DFNB1 ), making it the most common form of autosomal recessive nonsyndromic hearing loss with a carrier rate estimated to be as high as 2.8%.
10049954
1999
×
Entrez Id:
3371
Gene Symbol:
TNC
TNC
0.310
Biomarker
disease
CLINGEN
Tenascin-C in the cochlea of the developing mouse.
10102501
1999
×
Entrez Id:
1680
Gene Symbol:
DFNX3
DFNX3
0.010
Biomarker
disease
BEFREE
Locus DFN4 is an X-linked nonsyndromic hearing loss locus originally mapped to Xp21.2.
10334222
1999
×
Entrez Id:
9132
Gene Symbol:
KCNQ4
KCNQ4
0.390
Biomarker
disease
CLINGEN
Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.
10369879
1999
×
Entrez Id:
5456
Gene Symbol:
POU3F4
POU3F4
0.340
Biomarker
disease
CLINGEN
Targeted mutagenesis of the POU-domain gene Brn4/Pou3f4 causes developmental defects in the inner ear.
10407036
1999
×
Entrez Id:
9132
Gene Symbol:
KCNQ4
KCNQ4
0.390
GeneticVariation
disease
BEFREE
Mutation analysis of KCNQ4 was also performed on 80 unrelated probands from families with recessive or dominant nonsyndromic hearing loss .
10571947
1999
×
Entrez Id:
1302
Gene Symbol:
COL11A2
COL11A2
0.400
Biomarker
disease
CLINGEN
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).
10581026
1999
×
Entrez Id:
5456
Gene Symbol:
POU3F4
POU3F4
0.340
Biomarker
disease
CLINGEN
The sex-linked fidget mutation abolishes Brn4/Pou3f4 gene expression in the embryonic inner ear.
10587581
2000
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.100
GeneticVariation
disease
BEFREE
Mutations in one gene, connexin 26 (encoding the gap junction protein beta 2 ), may be responsible for half of all autosomal recessive nonsyndromic deafness .
10590915
1999