rs80358277, KCNQ4

N. diseases: 1
Disease: Deafness, Autosomal Dominant 2A ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Deafness, Autosomal Dominant 2A
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
0.800 GeneticVariation UNIPROT Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene. 21242547 2011
Deafness, Autosomal Dominant 2A
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
0.800 GeneticVariation UNIPROT Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region. 10925378 2000
Deafness, Autosomal Dominant 2A
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
0.800 GeneticVariation UNIPROT Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss. 10571947 1999
Deafness, Autosomal Dominant 2A
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
0.800 GeneticVariation UNIPROT Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. 10369879 1999
Deafness, Autosomal Dominant 2A
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
0.800 GeneticVariation UNIPROT KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. 10025409 1999
Deafness, Autosomal Dominant 2A
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
0.800 CausalMutation CLINVAR