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: 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: 64072
Gene Symbol: CDH23
CDH23
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.470 Biomarker GENOMICS_ENGLAND Autosomal recessive nonsyndromal profound childhood deafness in a large pedigree. Audiometric features of the affected persons and the obligate carriers. 2706105

1989

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: 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: 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: 5631
Gene Symbol: PRPS1
PRPS1
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.450 Biomarker GENOMICS_ENGLAND Mapping of DFN2 to Xq22. 8968763

1996

Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.430 Biomarker GENOMICS_ENGLAND FISH localization of human cytoplasmic actin genes ACTB to 7p22 and ACTG1 to 17q25 and characterization of related pseudogenes. 8941379

1996

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: 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: 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: 5456
Gene Symbol: POU3F4
POU3F4
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.420 Biomarker GENOMICS_ENGLAND The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutation. 9298820

1997

Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.410 Biomarker GENOMICS_ENGLAND The clinical spectrum of type IV collagen mutations. 9195222

1997

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