Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2248
Gene Symbol: FGF3
FGF3 		0.010 Biomarker phenotype 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 		0.010 Biomarker phenotype LHGDN Transaldolase deficiency in a two-year-old boy with cirrhosis. 18331807 2008
Entrez Id: 4627
Gene Symbol: MYH9
MYH9 		0.010 GeneticVariation phenotype 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 		0.010 GeneticVariation phenotype 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 		0.010 GeneticVariation phenotype 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 		0.010 GeneticVariation phenotype LHGDN We identified mutations in TMPRSS3 in four Pakistani families with recessive, nonsyndromic congenital deafness. 15447792 2004
Entrez Id: 1690
Gene Symbol: COCH
COCH 		0.010 GeneticVariation phenotype 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 		0.010 GeneticVariation phenotype 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 		0.010 Biomarker phenotype 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 		0.010 Biomarker phenotype LHGDN Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD1 maps to 20p13. 11836359 2002
Entrez Id: 7809
Gene Symbol: BSND
BSND 		0.020 GeneticVariation phenotype 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 		0.020 GeneticVariation phenotype LHGDN Barttin mutations in antenatal Bartter syndrome with sensorineural deafness. 16773427 2006
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.040 GeneticVariation phenotype 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 		0.040 GeneticVariation phenotype 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 		0.040 GeneticVariation phenotype 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 		0.040 GeneticVariation phenotype 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 		0.040 GeneticVariation phenotype 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 		0.040 GeneticVariation phenotype 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 		0.040 GeneticVariation phenotype LHGDN Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome. 14985365 2004
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.040 GeneticVariation phenotype 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 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1187
Gene Symbol: CLCNKA
CLCNKA 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 7007
Gene Symbol: TECTA
TECTA 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 29899
Gene Symbol: GPSM2
GPSM2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 117531
Gene Symbol: TMC1
TMC1 		0.100 CausalMutation phenotype CLINVAR