Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 204
Gene Symbol: AK2
AK2
CUI: C0011053
Disease: Deafness
Deafness 		0.310 Biomarker CTD_human Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. 19043416

2009
Entrez Id: 204
Gene Symbol: AK2
AK2
CUI: C0011053
Disease: Deafness
Deafness 		0.310 GeneticVariation LHGDN Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. 19043416

2009
Entrez Id: 254268
Gene Symbol: AKNAD1
AKNAD1
CUI: C0011053
Disease: Deafness
Deafness 		0.100 CausalMutation CLINVAR

Entrez Id: 627
Gene Symbol: BDNF
BDNF
CUI: C0011053
Disease: Deafness
Deafness 		0.300 Therapeutic CTD_human Enhanced survival of spiral ganglion cells after cessation of treatment with brain-derived neurotrophic factor in deafened guinea pigs. 19365690

2009
Entrez Id: 627
Gene Symbol: BDNF
BDNF
CUI: C0011053
Disease: Deafness
Deafness 		0.300 Therapeutic CTD_human Delayed electrical stimulation and BDNF application following induced deafness in rats. 18607918

2009
Entrez Id: 7809
Gene Symbol: BSND
BSND
CUI: C0011053
Disease: Deafness
Deafness 		0.020 GeneticVariation LHGDN Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families. 16572343

2006
Entrez Id: 7809
Gene Symbol: BSND
BSND
CUI: C0011053
Disease: Deafness
Deafness 		0.020 GeneticVariation LHGDN Barttin mutations in antenatal Bartter syndrome with sensorineural deafness. 16773427

2006
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D
CUI: C0011053
Disease: Deafness
Deafness 		0.300 Biomarker CTD_human Null mutation of alpha1D Ca2+ channel gene results in deafness but no vestibular defect in mice. 15357422

2004
Entrez Id: 8556
Gene Symbol: CDC14A
CDC14A
CUI: C0011053
Disease: Deafness
Deafness 		0.300 Biomarker CTD_human Auditory hair cells of postnatal Cdc14a mutants develop normally, but subsequently degenerate causing deafness. 29293958

2018
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
CUI: C0011053
Disease: Deafness
Deafness 		0.100 CausalMutation CLINVAR

Entrez Id: 1187
Gene Symbol: CLCNKA
CLCNKA
CUI: C0011053
Disease: Deafness
Deafness 		0.100 CausalMutation CLINVAR

Entrez Id: 23562
Gene Symbol: CLDN14
CLDN14
CUI: C0011053
Disease: Deafness
Deafness 		0.400 CausalMutation CLINVAR

Entrez Id: 23562
Gene Symbol: CLDN14
CLDN14
CUI: C0011053
Disease: Deafness
Deafness 		0.400 Biomarker CTD_human The essential function of one of these claudins in the inner ear was established by identifying mutations in CLDN14 that cause nonsyndromic recessive deafness DFNB29 in two large consanguineous Pakistani families. 11163249

2001
Entrez Id: 1690
Gene Symbol: COCH
COCH
CUI: C0011053
Disease: Deafness
Deafness 		0.010 GeneticVariation LHGDN Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin. 12928864

2003
Entrez Id: 2059
Gene Symbol: EPS8
EPS8
CUI: C0011053
Disease: Deafness
Deafness 		0.100 CausalMutation CLINVAR

Entrez Id: 83715
Gene Symbol: ESPN
ESPN
CUI: C0011053
Disease: Deafness
Deafness 		0.300 Biomarker CTD_human A recessive mutation in the espin gene (Espn) has been detected in the jerker mouse and causes deafness, vestibular dysfunction, and hair cell degeneration. 15930085

2006
Entrez Id: 83715
Gene Symbol: ESPN
ESPN
CUI: C0011053
Disease: Deafness
Deafness 		0.300 Biomarker CTD_human The abnormal vestibular phenotype associated with ESPN mutations will be a useful clinical marker for refining the differential diagnosis of non-syndromic deafness. 15286153

2004
Entrez Id: 2248
Gene Symbol: FGF3
FGF3
CUI: C0011053
Disease: Deafness
Deafness 		0.010 Biomarker LHGDN In order to better characterize the phenotypic spectrum associated with FGF3 mutations, we sequenced the FGF3 gene in 10 unrelated families in which probands had congenital deafness associated with various inner ear anomalies, including Michel aplasia, with or without tooth or external ear anomalies. 18435799

2008
Entrez Id: 2299
Gene Symbol: FOXI1
FOXI1
CUI: C0011053
Disease: Deafness
Deafness 		0.300 Biomarker GENOMICS_ENGLAND Acidosis and Deafness in Patients with Recessive Mutations in FOXI1. 29242249

2018
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C0011053
Disease: Deafness
Deafness 		0.040 GeneticVariation LHGDN A novel heterozygous deletion frameshift mutation of GATA3 in a Japanese kindred with the hypoparathyroidism, deafness and renal dysplasia syndrome. 17114920

2006
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C0011053
Disease: Deafness
Deafness 		0.040 GeneticVariation LHGDN Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome. 14985365

2004
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C0011053
Disease: Deafness
Deafness 		0.040 GeneticVariation LHGDN This is the first article presenting mutations of the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population. 16912130

2006
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C0011053
Disease: Deafness
Deafness 		0.040 GeneticVariation LHGDN A novel mutation in the GATA3 gene in a family with HDR syndrome (Hypoparathyroidism, sensorineural Deafness and Renal anomaly syndrome). 16509533

2006
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0011053
Disease: Deafness
Deafness 		0.450 GeneticVariation LHGDN Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East. 11935342

2002
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0011053
Disease: Deafness
Deafness 		0.450 GeneticVariation LHGDN In contrast, most recessive Cx26 mutations (identified in DFNB1 patients) resulted in a simple loss of channel activity. 12505163

2003