Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2299
Gene Symbol: FOXI1
FOXI1
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.300 Biomarker GENOMICS_ENGLAND Acidosis and Deafness in Patients with Recessive Mutations in FOXI1. 29242249

2018
Entrez Id: 246213
Gene Symbol: SLC17A8
SLC17A8
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.300 Biomarker GENOMICS_ENGLAND Genomic Landscape and Mutational Signatures of Deafness-Associated Genes. 30245029

2018
Entrez Id: 56616
Gene Symbol: DIABLO
DIABLO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.300 Biomarker GENOMICS_ENGLAND Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326

2016
Entrez Id: 10735
Gene Symbol: STAG2
STAG2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.300 Biomarker GENOMICS_ENGLAND Microduplication of chromosome Xq25 encompassing STAG2 gene in a boy with intellectual disability. 25450604

2015
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.300 Biomarker GENOMICS_ENGLAND Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration. 24697911

2014
Entrez Id: 152137
Gene Symbol: CCDC50
CCDC50
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.300 Biomarker GENOMICS_ENGLAND A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss. 17503326

2007
Entrez Id: 4330
Gene Symbol: MN1
MN1
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.300 Biomarker GENOMICS_ENGLAND Targeted disruption of the Mn1 oncogene results in severe defects in development of membranous bones of the cranial skeleton. 15870292

2005
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.300 Biomarker GENOMICS_ENGLAND Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis. 9915948

1999
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.300 Biomarker GENOMICS_ENGLAND Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. 9916796

1999
Entrez Id: 7809
Gene Symbol: BSND
BSND
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.300 Biomarker GENOMICS_ENGLAND Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p. 9463315

1998
Entrez Id: 5269
Gene Symbol: SERPINB6
SERPINB6
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.300 Biomarker GENOMICS_ENGLAND A novel serpin-like protein, B-43, exists in both neurons and astrocytes: an immunohistochemical study in the parietal region of the bovine brain. 8614560

1995
Entrez Id: 51099
Gene Symbol: ABHD5
ABHD5
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 493856
Gene Symbol: CISD2
CISD2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 4640
Gene Symbol: MYO1A
MYO1A
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.300 Biomarker GENOMICS_ENGLAND