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 Biomarker disease CTD_human
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A 		0.700 GeneticVariation disease CLINVAR
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.170 Biomarker phenotype HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.170 GeneticVariation phenotype CLINVAR
CUI: C0040264
Disease: Tinnitus
Tinnitus 		0.100 Biomarker phenotype HPO
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: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.070 Biomarker disease BEFREE These five DFNA2 families show a similar progressive sensorineural hearing loss, starting in the high frequencies and also affecting the middle and low frequencies later in life. 9126484 1997
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.070 GeneticVariation disease BEFREE Nonsyndromic autosomal dominant progressive sensorineural hearing loss: audiologic analysis of a pedigree linked to DFNA2. 9432071 1998
CUI: C0395971
Disease: Dominant sensorineural hearing loss
Dominant sensorineural hearing loss 		0.020 GeneticVariation disease BEFREE An analysis was performed of the regression of the individual hearing threshold on age in the affected persons in a six-generation Dutch family with nonsyndromic autosomal dominant sensorineural hearing loss, which showed linkage to the DFNA2(1p34) region, similar to at least four previously reported nonrelated families. 9432071 1998
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 CausalMutation disease CLINVAR 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 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 Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. 10369879 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
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: 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: 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: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.070 GeneticVariation disease BEFREE A Dutch family with progressive sensorineural hearing impairment linked to the DFNA2 region. 10784363 2000
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: 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 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: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.020 Biomarker disease BEFREE Several mutations affecting the trans-membrane domain and the pore region of the K+ channels belonging to the KQT-like family have been described in some human diseases associated with altered regulation of cellular excitability (ie BFNC, some LQT syndromes and DFNA2). 11175290 2000
CUI: C0395971
Disease: Dominant sensorineural hearing loss
Dominant sensorineural hearing loss 		0.020 Biomarker disease BEFREE Mutation analysis was performed for the MYO7A, KCNQ4, and GJB3 genes, which are known to be responsible for autosomal dominant sensorineural hearing loss. 11450843 2001
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.020 Biomarker disease BEFREE Mutations in each of these additional genes were implicated as causes of human hereditary diseases: epilepsy (KCNQ3), deafness (KCNQ4), and, possibly, retinal degeneration (KCNQ5). 11887968 2001
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