Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 6888
Gene Symbol: TALDO1
TALDO1
CUI: C0011053
Disease: Deafness
Deafness 		0.010 Biomarker LHGDN Transaldolase deficiency in a two-year-old boy with cirrhosis. 18331807

2008
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0011053
Disease: Deafness
Deafness 		0.010 GeneticVariation LHGDN Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. 18059020

2008
Entrez Id: 9132
Gene Symbol: KCNQ4
KCNQ4
CUI: C0011053
Disease: Deafness
Deafness 		0.010 GeneticVariation LHGDN Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan. 17033161

2007
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0011053
Disease: Deafness
Deafness 		0.010 GeneticVariation LHGDN We show that in the Czech Republic the Delta(GJB6-D13S1830) is not the second most common causal factor in deafness patients heterozygous for a single GJB2 mutation, and that Delta(GJB6-D13S1830) is very rare in central Europe compared to reports from Spain, France and Israel. 15638823

2005
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C0011053
Disease: Deafness
Deafness 		0.010 GeneticVariation LHGDN We identified mutations in TMPRSS3 in four Pakistani families with recessive, nonsyndromic congenital deafness. 15447792

2004
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: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0011053
Disease: Deafness
Deafness 		0.010 GeneticVariation LHGDN The results provide further support to the notion that PTPN11 mutations are responsible for the development of Noonan syndrome in a substantial fraction of patients and that relatively infrequent features of Noonan syndrome, such as sensory deafness and bleeding diathesis, can also result from mutations of PTPN11. 12161469

2002
Entrez Id: 10723
Gene Symbol: SLC12A7
SLC12A7
CUI: C0011053
Disease: Deafness
Deafness 		0.010 Biomarker LHGDN Similar to some human genetic syndromes(), deafness in Kcc4-deficient mice is associated with renal tubular acidosis. 11976689

2002
Entrez Id: 83959
Gene Symbol: SLC4A11
SLC4A11
CUI: C0011053
Disease: Deafness
Deafness 		0.010 Biomarker LHGDN Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD1 maps to 20p13. 11836359

2002
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: 4976
Gene Symbol: OPA1
OPA1
CUI: C0011053
Disease: Deafness
Deafness 		0.040 GeneticVariation LHGDN A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation. 18204809

2008
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
CUI: C0011053
Disease: Deafness
Deafness 		0.040 GeneticVariation LHGDN Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. 18065439

2008
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 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: 4976
Gene Symbol: OPA1
OPA1
CUI: C0011053
Disease: Deafness
Deafness 		0.040 GeneticVariation LHGDN The heterozygous R445H mutation in OPA1 was found in five patients with optic atrophy and deafness. 16240368

2005
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: 4976
Gene Symbol: OPA1
OPA1
CUI: C0011053
Disease: Deafness
Deafness 		0.040 GeneticVariation LHGDN Observational case report.The entire coding sequence of the OPA1 gene was directly sequenced in the case of a patient suffering from optic atrophy associated with moderate deafness. 14644237

2003
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: 7007
Gene Symbol: TECTA
TECTA
CUI: C0011053
Disease: Deafness
Deafness 		0.100 CausalMutation CLINVAR

Entrez Id: 29899
Gene Symbol: GPSM2
GPSM2
CUI: C0011053
Disease: Deafness
Deafness 		0.100 CausalMutation CLINVAR

Entrez Id: 117531
Gene Symbol: TMC1
TMC1
CUI: C0011053
Disease: Deafness
Deafness 		0.100 CausalMutation CLINVAR