Condition: hearing impairment


rs879253799 in DCAF17 gene and hearing impairment PMID 26612766 2016 Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome.

rs6132107 in DTD1 gene and hearing impairment PMID 19047183 2009 GRM7 variants confer susceptibility to age-related hearing impairment.

rs35887622 in GJB2 gene and hearing impairment PMID 16380907 2005 Several common mutations (M34T, V37I, and L90P) were associated with mild-to-moderate HI (median 25-40 dB).

PMID 22668073 2012 Homozygous M34T mutation of the GJB2 gene associates with an autosomal recessive nonsyndromic sensorineural hearing impairment in Finnish families.

rs1057519464 in HEXA gene and hearing impairment PMID 23852624 2014 Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.

PMID 1532289 1992 Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals.

PMID 22723944 2012 Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

PMID 27896118 2014 Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.

rs457717 in IQGAP2;F2RL2 gene and hearing impairment PMID 20068591 2010 A genome-wide association study for age-related hearing impairment in the Saami.

rs1554958045 in KCNQ1 gene and hearing impairment PMID 28595573 2017 A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.

rs2839580 in PDE9A;PDE9A-AS1 gene and hearing impairment PMID 19047183 2009 GRM7 variants confer susceptibility to age-related hearing impairment.