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 CausalMutation disease CLINVAR A novel frameshift mutation in KCNQ4 in a family with autosomal recessive non-syndromic hearing loss. 26036578 2015
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A
0.700 CausalMutation disease CLINVAR Targeted high-throughput sequencing identifies pathogenic mutations in KCNQ4 in two large Chinese families with autosomal dominant hearing loss. 25116015 2014
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A
0.700 CausalMutation disease CLINVAR Moderate hearing loss associated with a novel KCNQ4 non-truncating mutation located near the N-terminus of the pore helix. 23399560 2013
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A
0.700 CausalMutation disease CLINVAR Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL. 23443030 2013
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A
0.700 CausalMutation disease CLINVAR Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation. 23717403 2013
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A
0.700 CausalMutation disease CLINVAR In silico modeling of the pore region of a KCNQ4 missense mutant from a patient with hearing loss. 22420747 2012
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: 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 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 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 CausalMutation disease CLINVAR 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 Biomarker disease GENOMICS_ENGLAND Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p. 9126484 1997
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A
0.700 Biomarker disease CTD_human
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A
0.700 GeneticVariation disease CLINVAR
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