Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		0.700 GeneticVariation disease UNIPROT Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. 10369879 1999
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		0.700 GeneticVariation disease CLINVAR
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		0.700 GeneticVariation disease UNIPROT Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region. 10925378 2000
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		0.700 GeneticVariation disease UNIPROT KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. 10025409 1999
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		0.700 GeneticVariation disease UNIPROT Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss. 10571947 1999
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		0.700 GeneticVariation disease UNIPROT Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene. 21242547 2011
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 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 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 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 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 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 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 GeneticVariation disease BEFREE Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss. 30413759 2018
CUI: C0018781
Disease: Noise-induced hearing loss
Noise-induced hearing loss 		0.310 GeneticVariation disease LHGDN The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss. 16823764 2006
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.170 GeneticVariation phenotype BEFREE There could be another candidate gene in DFNA2, which could be responsible for the hearing loss phenotype. 21651318 2011
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.170 GeneticVariation phenotype BEFREE A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment. 12112653 2002
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.170 GeneticVariation phenotype BEFREE We analyzed hearing thresholds, speech recognition scores, and vestibular responses in 32 affected persons in a large family with DFNA2/KCNQ4-related hearing impairment caused by a W276S missense mutation. 11915881 2002
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.170 GeneticVariation phenotype BEFREE No study focused on the genetic alteration of KCNQ4 gene among hearing loss patients in India. 28802383 2017
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.170 GeneticVariation phenotype BEFREE These results indicate that at least two and possibly three genes responsible for hearing impairment are located close together on chromosome 1p34 and suggest that KCNQ4 mutations may be a relatively frequent cause of autosomal dominant hearing loss. 10369879 1999
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.170 GeneticVariation phenotype BEFREE Our results support the genotype-phenotype correlation that the KCNQ4 deletions are associated with later-onset and milder hearing impairment than the missense mutations. 16596322 2006
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.170 GeneticVariation phenotype CLINVAR
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.070 GeneticVariation disease BEFREE Mutations in the KCNQ4 gene lead to DFNA2, a subtype of autosomal dominant non-syndromic deafness that is characterized by progressive sensorineural hearing loss across all frequencies. 23750663 2013
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.070 GeneticVariation disease BEFREE Then we identified a novel KCNQ4 mutation p.W275R in exon 5 and a known KCNQ4 mutation p.G285S in exon 6 in two large Chinese ADNSHL families segregating with post-lingual high frequency-involved and progressive sensorineural hearing loss. 25116015 2014