Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5456
Gene Symbol: POU3F4
POU3F4
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.340 Biomarker CLINGEN Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. 7839145

1995

Entrez Id: 5456
Gene Symbol: POU3F4
POU3F4
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.340 Biomarker CLINGEN Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3. 7581392

1995

Entrez Id: 5459
Gene Symbol: POU4F3
POU4F3
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.360 Biomarker CLINGEN Role of transcription factors Brn-3.1 and Brn-3.2 in auditory and visual system development. 8637595

1996

Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.400 Biomarker CLINGEN Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. 9354784

1997

Entrez Id: 340990
Gene Symbol: OTOG
OTOG
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.300 Biomarker CLINGEN Otogelin: a glycoprotein specific to the acellular membranes of the inner ear. 9405633

1997

Entrez Id: 2707
Gene Symbol: GJB3
GJB3
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.500 Biomarker CLINGEN Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. 9843210

1998

Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.480 Biomarker CLINGEN Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene. 9603735

1998

Entrez Id: 5459
Gene Symbol: POU4F3
POU4F3
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.360 Biomarker CLINGEN Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. 9506947

1998

Entrez Id: 1690
Gene Symbol: COCH
COCH
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.340 Biomarker CLINGEN Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. 9806553

1998

Entrez Id: 7007
Gene Symbol: TECTA
TECTA
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.330 Biomarker CLINGEN Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. 9590290

1998

Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.300 Biomarker CLINGEN MAP kinase links the transcription factor Microphthalmia to c-Kit signalling in melanocytes. 9440696

1998

Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.400 Biomarker CLINGEN Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). 10581026

1999

Entrez Id: 9132
Gene Symbol: KCNQ4
KCNQ4
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.390 Biomarker CLINGEN KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. 10025409

1999

Entrez Id: 9132
Gene Symbol: KCNQ4
KCNQ4
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.390 Biomarker 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
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.340 Biomarker CLINGEN Targeted mutagenesis of the POU-domain gene Brn4/Pou3f4 causes developmental defects in the inner ear. 10407036

1999

Entrez Id: 7007
Gene Symbol: TECTA
TECTA
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.330 Biomarker 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: 3371
Gene Symbol: TNC
TNC
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.310 Biomarker CLINGEN Tenascin-C in the cochlea of the developing mouse. 10102501

1999

Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.480 Biomarker CLINGEN The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells. 10915760

2000

Entrez Id: 9132
Gene Symbol: KCNQ4
KCNQ4
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.390 Biomarker CLINGEN Longitudinal gradients of KCNQ4 expression in spiral ganglion and cochlear hair cells correlate with progressive hearing loss in DFNA2. 11042367

2000

Entrez Id: 5456
Gene Symbol: POU3F4
POU3F4
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.340 Biomarker CLINGEN The sex-linked fidget mutation abolishes Brn4/Pou3f4 gene expression in the embryonic inner ear. 10587581

2000

Entrez Id: 10083
Gene Symbol: USH1C
USH1C
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.340 Biomarker CLINGEN As several of these transcripts were absent from the eye, we propose that USH1C also underlies the DFNB18 form of isolated deafness. 10973247

2000

Entrez Id: 7007
Gene Symbol: TECTA
TECTA
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.330 Biomarker CLINGEN A targeted deletion in alpha-tectorin reveals that the tectorial membrane is required for the gain and timing of cochlear feedback. 11087000

2000

Entrez Id: 83715
Gene Symbol: ESPN
ESPN
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.310 Biomarker CLINGEN The deaf jerker mouse has a mutation in the gene encoding the espin actin-bundling proteins of hair cell stereocilia and lacks espins. 10975527

2000

Entrez Id: 340990
Gene Symbol: OTOG
OTOG
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.300 Biomarker CLINGEN Targeted disruption of otog results in deafness and severe imbalance. 10655058

2000

Entrez Id: 375611
Gene Symbol: SLC26A5
SLC26A5
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.300 Biomarker CLINGEN Prestin is the motor protein of cochlear outer hair cells. 10821263

2000