Disease: Nonsyndromic Deafness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.390 GeneticVariation disease BEFREE A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators. 30556268 2019
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.390 GeneticVariation disease BEFREE Variants of KCNQ4 are one of the most common causes of dominantly inherited nonsyndromic hearing loss. 31028865 2019
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.390 GeneticVariation disease BEFREE Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss. 30413759 2018
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.390 Biomarker disease BEFREE Once the <i>KCNQ4</i> pathogenic variant has been identified in a family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic diagnosis for DFNA2 nonsyndromic hearing loss are possible. 29739174 2018
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.390 Biomarker disease CLINGEN A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2. 28340560 2017
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.390 Biomarker disease CLINGEN A novel frameshift mutation in KCNQ4 in a family with autosomal recessive non-syndromic hearing loss. 26036578 2015
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.390 Biomarker disease CLINGEN Targeted high-throughput sequencing identifies pathogenic mutations in KCNQ4 in two large Chinese families with autosomal dominant hearing loss. 25116015 2014
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.390 Biomarker disease CLINGEN A Japanese family showing high-frequency hearing loss with KCNQ4 and TECTA mutations. 24655070 2014
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.390 Biomarker disease CLINGEN Kcnq1-5 (Kv7.1-5) potassium channel expression in the adult zebrafish. 24555524 2014
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.390 GeneticVariation disease BEFREE Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation. 23717403 2013
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.390 Biomarker disease CLINGEN In conclusion, KCNQ4 mutations are frequent among ADNSHL patients, and therefore screening of the gene and molecular confirmation of these mutations have become important in the diagnosis of these conditions. 23717403 2013
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.390 Biomarker disease CLINGEN Impaired surface expression and conductance of the KCNQ4 channel lead to sensorineural hearing loss. 23750663 2013
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.390 Biomarker disease CLINGEN Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus. 18941426 2008
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.390 GeneticVariation disease BEFREE We present data of mutation analysis of KCNQ4 from 185 unrelated Taiwanese probands with nonsyndromic hearing loss. 17033161 2007
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.390 Biomarker disease CLINGEN A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation. 16596322 2006
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.390 Biomarker disease CLINGEN Mice with altered KCNQ4 K+ channels implicate sensory outer hair cells in human progressive deafness. 16437162 2006
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.390 GeneticVariation disease BEFREE Several different mutations in the KCNQ4 K+ channel gene are responsible for autosomal dominant nonsyndromic hearing impairment (DFNA2). 12112653 2002
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.390 Biomarker disease CLINGEN Longitudinal gradients of KCNQ4 expression in spiral ganglion and cochlear hair cells correlate with progressive hearing loss in DFNA2. 11042367 2000
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.390 GeneticVariation disease BEFREE The DFNA2 locus for autosomal dominant nonsyndromic hearing impairment on chromosome 1p34 contains at least 2 genes responsible for hearing loss, GJB3 and KCNQ4. 10925378 2000
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.390 GeneticVariation disease BEFREE Mutation analysis of KCNQ4 was also performed on 80 unrelated probands from families with recessive or dominant nonsyndromic hearing loss. 10571947 1999
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.390 Biomarker disease CLINGEN KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. 10025409 1999
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.390 Biomarker disease CLINGEN Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. 10369879 1999