Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2189
Gene Symbol: FANCG
FANCG
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.400 Biomarker GENOMICS_ENGLAND The Fanconi anaemia group G gene FANCG is identical with XRCC9. 9806548

1998
Entrez Id: 126326
Gene Symbol: GIPC3
GIPC3
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.400 Biomarker GENOMICS_ENGLAND New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p. 9286457

1997
Entrez Id: 1834
Gene Symbol: DSPP
DSPP
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.400 Biomarker GENOMICS_ENGLAND Assignment of dentin sialophosphoprotein (DSPP) to the critical DGI2 locus on human chromosome 4 band q21.3 by in situ hybridization. 9533027

1997
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.400 Biomarker GENOMICS_ENGLAND Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. 8896563

1996
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.400 Biomarker GENOMICS_ENGLAND Cloning of cDNAs for Fanconi's anaemia by functional complementation. 1574115

1992
Entrez Id: 2248
Gene Symbol: FGF3
FGF3
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.400 Biomarker GENOMICS_ENGLAND Potential oncogene product related to growth factors. 3574458

1987
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.400 Biomarker GENOMICS_ENGLAND

Entrez Id: 411
Gene Symbol: ARSB
ARSB
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.400 Biomarker GENOMICS_ENGLAND

Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.400 Biomarker GENOMICS_ENGLAND

Entrez Id: 5308
Gene Symbol: PITX2
PITX2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.400 Biomarker GENOMICS_ENGLAND

Entrez Id: 79977
Gene Symbol: GRHL2
GRHL2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.330 Biomarker GENOMICS_ENGLAND Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome. 25152456

2014
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.330 Biomarker GENOMICS_ENGLAND Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family. 9719374

1998
Entrez Id: 23676
Gene Symbol: SMPX
SMPX
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.330 Biomarker GENOMICS_ENGLAND A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22. 8872482

1996
Entrez Id: 375611
Gene Symbol: SLC26A5
SLC26A5
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.320 Biomarker GENOMICS_ENGLAND Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326

2016
Entrez Id: 125336
Gene Symbol: LOXHD1
LOXHD1
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.320 Biomarker GENOMICS_ENGLAND Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy. 22341973

2012
Entrez Id: 10518
Gene Symbol: CIB2
CIB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.320 Biomarker GENOMICS_ENGLAND Structure, expression profile and chromosomal location of an isolog of DNA-PKcs interacting protein (KIP) gene. 9931475

1999
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.320 Biomarker GENOMICS_ENGLAND Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome). 9805126

1998
Entrez Id: 2103
Gene Symbol: ESRRB
ESRRB
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.320 Biomarker GENOMICS_ENGLAND Chromosomal mapping of the human and murine orphan receptors ERRalpha (ESRRA) and ERRbeta (ESRRB) and identification of a novel human ERRalpha-related pseudogene. 9344655

1997
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.310 Biomarker GENOMICS_ENGLAND Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. 26463574

2016
Entrez Id: 146183
Gene Symbol: OTOA
OTOA
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.310 Biomarker GENOMICS_ENGLAND Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families. 23173898

2013
Entrez Id: 1428
Gene Symbol: CRYM
CRYM
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.310 Biomarker GENOMICS_ENGLAND Purification, molecular cloning, and functional expression of the human nicodinamide-adenine dinucleotide phosphate-regulated thyroid hormone-binding protein. 9328354

1997
Entrez Id: 1678
Gene Symbol: TIMM8A
TIMM8A
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.310 Biomarker GENOMICS_ENGLAND A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. 8841189

1996
Entrez Id: 5962
Gene Symbol: RDX
RDX
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.310 Biomarker GENOMICS_ENGLAND Molecular cloning, cDNA sequence, and chromosomal assignment of the human radixin gene and two dispersed pseudogenes. 8486357

1993
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.300 Biomarker GENOMICS_ENGLAND Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. 31794024

2020
Entrez Id: 1024
Gene Symbol: CDK8
CDK8
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.300 Biomarker GENOMICS_ENGLAND De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder. 30905399

2019