Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.410 Biomarker GENOMICS_ENGLAND

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.410 Biomarker GENOMICS_ENGLAND

Entrez Id: 259236
Gene Symbol: TMIE
TMIE
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.410 Biomarker GENOMICS_ENGLAND

Entrez Id: 57167
Gene Symbol: SALL4
SALL4
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.410 Biomarker GENOMICS_ENGLAND

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: 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

Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.410 Biomarker GENOMICS_ENGLAND 6p25 microdeletion: white matter abnormalities in an adult patient. 23686687

2013

Entrez Id: 53904
Gene Symbol: MYO3A
MYO3A
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.410 Biomarker GENOMICS_ENGLAND A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA. 21165622

2011

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: 117531
Gene Symbol: TMC1
TMC1
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.450 Biomarker GENOMICS_ENGLAND A novel DFNA36 mutation in TMC1 orthologous to the Beethoven (Bth) mouse associated with autosomal dominant hearing loss in a Chinese family. 24827932

2014

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: 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: 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: 1690
Gene Symbol: COCH
COCH
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.400 Biomarker GENOMICS_ENGLAND A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects. 9931344

1999

Entrez Id: 6495
Gene Symbol: SIX1
SIX1
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.420 Biomarker GENOMICS_ENGLAND Abrogation of the G2 cell cycle checkpoint associated with overexpression of HSIX1: a possible mechanism of breast carcinogenesis. 9770533

1998

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: 11078
Gene Symbol: TRIOBP
TRIOBP
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.430 Biomarker GENOMICS_ENGLAND Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing. 20510926

2010

Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.400 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 7007
Gene Symbol: TECTA
TECTA
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.500 Biomarker GENOMICS_ENGLAND An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. 9949200

1999