Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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