Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.100 Biomarker disease HPO
Entrez Id: 9394
Gene Symbol: HS6ST1
HS6ST1 		0.100 Biomarker disease HPO
Entrez Id: 3814
Gene Symbol: KISS1
KISS1 		0.100 Biomarker disease HPO
Entrez Id: 2253
Gene Symbol: FGF8
FGF8 		0.100 Biomarker disease HPO
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15 		0.100 CausalMutation disease CLINVAR
Entrez Id: 124590
Gene Symbol: USH1G
USH1G 		0.100 CausalMutation disease CLINVAR
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1 		0.100 Biomarker disease HPO
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.100 Biomarker disease BEFREE Recently, it has been demonstrated that connexin 26 (GJB2) gene is a major gene for congenital sensorineural deafness. 10713883 2000
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.100 Biomarker disease BEFREE This study tested the hypothesis of whether alternative GJB2 transcription involving E1a may play a role in the development of congenital sensorineural deafness in Austria. 27827000 2017
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.100 GeneticVariation disease BEFREE Molecular diagnostic testing of individuals with congenital sensorineural hearing loss typically begins with DNA sequencing of the GJB2 gene. 20668687 2010
Entrez Id: 8942
Gene Symbol: KYNU
KYNU 		0.100 Biomarker disease HPO
Entrez Id: 4286
Gene Symbol: MITF
MITF 		0.100 Biomarker disease HPO
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		0.100 Biomarker disease HPO
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.100 Biomarker disease HPO
Entrez Id: 4286
Gene Symbol: MITF
MITF 		0.100 CausalMutation disease CLINVAR
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.100 GeneticVariation disease BEFREE Of 52 sequential probands referred for congenital sensorineural hearing loss, 22 (42%) were found to have GJB2 mutations. 10376574 1999
Entrez Id: 79955
Gene Symbol: PDZD7
PDZD7 		0.100 Biomarker disease HPO
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.100 Biomarker disease BEFREE Based on our results, connexin gene mutations should be considered in patients presenting with congenital sensorineural hearing loss and disorders of cornification, and screening of several connexin genes with known cutaneous phenotype, such as those for Cx26, Cx30, Cx30.3, and Cx31, may be required. 15140211 2004
Entrez Id: 6591
Gene Symbol: SNAI2
SNAI2 		0.100 Biomarker disease HPO
Entrez Id: 2299
Gene Symbol: FOXI1
FOXI1 		0.100 Biomarker disease HPO
Entrez Id: 2796
Gene Symbol: GNRH1
GNRH1 		0.100 Biomarker disease HPO
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.100 GeneticVariation disease BEFREE Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation. 28821934 2017
Entrez Id: 6866
Gene Symbol: TAC3
TAC3 		0.100 Biomarker disease HPO
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5 		0.100 GeneticVariation disease CLINVAR