×
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
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: 286676
Gene Symbol: ILDR1
ILDR1
hearing impairment
0.420
Biomarker
GENOMICS_ENGLAND
Recently, ILDR1 has been found to be responsible for autosomal recessive hearing impairment DFNB42 .
24990150 2014
MARVELD2
hearing impairment
0.420
Biomarker
GENOMICS_ENGLAND
It is estimated that 1.06% (95% confidence interval 0.02-3.06%) of families with ARNSHI in Pakistan manifest HI due to mutations in the TRIC gene.
18084694 2008
×
Entrez Id: 494513
Gene Symbol: PJVK
PJVK
hearing impairment
0.420
Biomarker
GENOMICS_ENGLAND
Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families.
17718865 2007
×
Entrez Id: 6495
Gene Symbol: SIX1
SIX1
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: 5456
Gene Symbol: POU3F4
POU3F4
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: 55636
Gene Symbol: CHD7
CHD7
hearing impairment
0.410
Biomarker
GENOMICS_ENGLAND
Inappropriate p53 activation during development induces features of CHARGE syndrome.
25119037 2014
×
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1
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
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: 389207
Gene Symbol: GRXCR1
GRXCR1
hearing impairment
0.410
Biomarker
GENOMICS_ENGLAND
Sequence analysis of the GRXCR1 gene in hearing-impaired family members revealed splice-site mutations in two Dutch families and a missense and nonsense mutation, respectively, in two Pakistani families.
20137778 2010
×
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1
hearing impairment
0.410
Biomarker
GENOMICS_ENGLAND
Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
9734811 1998
×
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
hearing impairment
0.410
Biomarker
GENOMICS_ENGLAND
The clinical spectrum of type IV collagen mutations.
9195222 1997
×
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1
hearing impairment
0.410
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
hearing impairment
0.410
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 259236
Gene Symbol: TMIE
TMIE
hearing impairment
0.410
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
hearing impairment
0.410
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1
hearing impairment
0.400
Biomarker
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308 2016
×
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1
hearing impairment
0.400
Biomarker
GENOMICS_ENGLAND
Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency.
23084291 2012
×
Entrez Id: 23562
Gene Symbol: CLDN14
CLDN14
hearing impairment
0.400
Biomarker
GENOMICS_ENGLAND
Given the known involvement of CLDN14 gene in NSHL, DNA samples from hearing-impaired members from the four families were sequenced to potentially identify causal variants within this gene.
22246673 2012
×
Entrez Id: 286262
Gene Symbol: TPRN
TPRN
hearing impairment
0.400
Biomarker
GENOMICS_ENGLAND
Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79.
20170899 2010
×
Entrez Id: 2189
Gene Symbol: FANCG
FANCG
hearing impairment
0.400
Biomarker
GENOMICS_ENGLAND
Molecular pathogenesis of Fanconi anemia: recent progress.
16493006 2006
×
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
hearing impairment
0.400
Biomarker
GENOMICS_ENGLAND
Molecular pathogenesis of Fanconi anemia: recent progress.
16493006 2006
×
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
hearing impairment
0.400
Biomarker
GENOMICS_ENGLAND
Molecular pathogenesis of Fanconi anemia: recent progress.
16493006 2006
×
Entrez Id: 1690
Gene Symbol: COCH
COCH
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: 2138
Gene Symbol: EYA1
EYA1
hearing impairment
0.400
Biomarker
GENOMICS_ENGLAND
Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome.
9603436 1998