DFNA2A
MCID: DFN190
MIFTS: 38

Deafness, Autosomal Dominant 2a (DFNA2A)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Deafness, Autosomal Dominant 2a

MalaCards integrated aliases for Deafness, Autosomal Dominant 2a:

Name: Deafness, Autosomal Dominant 2a 56 13 71
Dfna2a 56 12 73
Autosomal Dominant Nonsyndromic Deafness 2a 12 15
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 2a 73
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 2a 73
Deafness, Autosomal Dominant, Type 2a 39
Deafness, Autosomal Dominant, 2a 73
Autosomal Dominant Deafness 2a 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
onset between ages 5 and 15 years
severe hearing loss by age 50 years


HPO:

31
deafness, autosomal dominant 2a:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0110558
OMIM 56 600101
OMIM Phenotypic Series 56 PS124900
MeSH 43 D006319
ICD10 32 H90.3
MedGen 41 C2677637
UMLS 71 C2677637

Summaries for Deafness, Autosomal Dominant 2a

UniProtKB/Swiss-Prot : 73 Deafness, autosomal dominant, 2A: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

MalaCards based summary : Deafness, Autosomal Dominant 2a, also known as dfna2a, is related to sensorineural hearing loss and deafness, autosomal dominant 18. An important gene associated with Deafness, Autosomal Dominant 2a is KCNQ4 (Potassium Voltage-Gated Channel Subfamily Q Member 4), and among its related pathways/superpathways is Diuretics Pathway, Pharmacodynamics. Affiliated tissues include brain, and related phenotypes are hearing impairment and tinnitus

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by high frequency progressive hearing loss and has material basis in mutation in the KCNQ4 gene on chromosome 1p34.2.

More information from OMIM: 600101 PS124900

Related Diseases for Deafness, Autosomal Dominant 2a

Diseases in the Rare Deafness family:

Deafness, Autosomal Dominant 1 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Recessive 2 Deafness, Autosomal Dominant 2a
Deafness, Autosomal Recessive 3 Deafness, Autosomal Dominant 4a
Deafness, Autosomal Recessive 5 Deafness, Autosomal Dominant 6
Deafness, Autosomal Recessive 6 Deafness, Autosomal Recessive 7
Deafness, Autosomal Dominant 5 Deafness, Autosomal Recessive 9
Deafness, Autosomal Recessive 8 Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 9
Deafness, Autosomal Recessive 12 Deafness, Autosomal Dominant 7
Deafness, Autosomal Dominant 12 Deafness, Autosomal Dominant 3a
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 18a Deafness, Autosomal Dominant 15
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 13
Deafness, Autosomal Dominant 17 Deafness, Autosomal Recessive 21
Deafness, Autosomal Recessive 14 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 20
Deafness, Autosomal Dominant 20 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 25
Deafness, Autosomal Recessive 27 Deafness, Autosomal Dominant 18
Deafness, Autosomal Dominant 24 Deafness, Autosomal Dominant 22
Deafness, Autosomal Dominant 30 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 21 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 31 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive Deafness, Autosomal Recessive 33
Deafness, Autosomal Dominant 44 Deafness, Autosomal Dominant 52
Deafness, Autosomal Recessive 37 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 41
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 39
Deafness, Autosomal Dominant 49 Deafness, Autosomal Dominant 43
Deafness, Autosomal Recessive 35 Deafness, Autosomal Dominant 28
Deafness, Autosomal Dominant 31 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 48 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 42 Deafness, Autosomal Recessive 46
Deafness, Autosomal Recessive 53 Deafness, Autosomal Recessive 28
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 47
Deafness, Autosomal Recessive 55 Deafness, Autosomal Dominant 53
Deafness, Autosomal Recessive 62 Deafness, Autosomal Recessive 49
Deafness, Autosomal Recessive 44 Deafness, Autosomal Recessive 66
Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 65
Deafness, Autosomal Recessive 67 Deafness, Autosomal Recessive 68
Deafness, Autosomal Recessive 24 Deafness, Autosomal Recessive 63
Deafness, Autosomal Dominant 27 Deafness, Autosomal Recessive 45
Deafness, Autosomal Dominant 59 Deafness, Autosomal Dominant 3b
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive 1b
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 50
Deafness, Autosomal Recessive 77 Deafness, Autosomal Recessive 25
Deafness, Autosomal Recessive 79 Deafness, Autosomal Recessive 84a
Deafness, Autosomal Recessive 85 Deafness, Autosomal Recessive 91
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 83
Deafness, Autosomal Recessive 74 Deafness, Autosomal Recessive 61
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 29
Deafness, Autosomal Dominant 64 Deafness, Autosomal Dominant 33
Deafness, Autosomal Recessive 96 Deafness, Autosomal Dominant 4b
Deafness, Autosomal Recessive 86 Deafness, Autosomal Recessive 98
Deafness, Autosomal Recessive 93 Deafness, Autosomal Recessive 70
Deafness, Autosomal Recessive 84b Deafness, Autosomal Recessive 18b
Deafness, Autosomal Recessive 88 Deafness, Autosomal Recessive 76
Deafness, Autosomal Dominant 56 Deafness, Autosomal Dominant 54
Deafness, Autosomal Dominant 58 Deafness, Autosomal Recessive 101
Deafness, Autosomal Recessive 102 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 65 Deafness, Autosomal Dominant 67
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 104
Deafness, Autosomal Dominant 69 Deafness, Autosomal Recessive 97
Deafness, Autosomal Dominant 68 Deafness, Autosomal Dominant 70
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 71
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 106
Deafness, Autosomal Recessive 107 Deafness, Autosomal Recessive 108
Deafness, Autosomal Dominant 73 Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109 Deafness, Autosomal Recessive 110
Deafness, Autosomal Dominant 74 Deafness, Autosomal Recessive 111
Deafness, Autosomal Recessive 112 Deafness, Autosomal Recessive 113
Deafness, Autosomal Recessive 100 Deafness, Autosomal Recessive 94
Deafness, Autosomal Recessive 114 Deafness, Autosomal Recessive 115
Deafness, Autosomal Recessive 99 Deafness, Autosomal Dominant 37
Nonsyndromic Deafness Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 106
Autosomal Recessive Nonsyndromic Deafness 107 Autosomal Recessive Nonsyndromic Deafness 108
Autosomal Dominant Nonsyndromic Deafness 71 Autosomal Dominant Nonsyndromic Deafness 72
Autosomal Dominant Nonsyndromic Deafness 73 Autosomal Dominant Nonsyndromic Deafness 34
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 32
Autosomal Recessive Nonsyndromic Deafness 36 Otof-Related Deafness
Familial Deafness

Diseases related to Deafness, Autosomal Dominant 2a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 sensorineural hearing loss 27.9 TMPRSS3 LHFPL5 KCNQ4 GJB2 ESPN COCH
2 deafness, autosomal dominant 18 10.3 KCNQ4 COCH
3 deafness, autosomal dominant 13 10.3 KCNQ4 COCH
4 deafness, autosomal dominant 28 10.3 KCNQ4 COCH
5 deafness, autosomal dominant 41 10.3 KCNQ4 COCH
6 deafness, autosomal dominant 15 10.3 KCNQ4 COCH
7 deafness, autosomal dominant 12 10.3 KCNQ4 COCH
8 wolfram syndrome 1 10.2
9 deafness, autosomal recessive 96 10.2 ESPN CLCNKA
10 infantile bartter syndrome with sensorineural deafness 10.2 CLCNKA BSND
11 deafness, autosomal dominant 64 10.1 KCNQ4 GJB2
12 labyrinthitis 10.1 GJB2 COCH
13 cogan syndrome 10.1 GJB2 COCH
14 deafness, autosomal dominant 3a 10.1 GJB2 COCH
15 deafness, autosomal dominant 4b 10.1 KCNQ4 GJB2
16 deafness, autosomal dominant 1 10.1 GJB2 ESPN
17 deafness, autosomal dominant 56 10.0 GJB2 COCH
18 bartter syndrome, type 3 10.0 CLCNKA BSND
19 deafness, autosomal recessive 91 10.0 GJB2 COCH
20 dent disease 1 10.0 CLCNKA BSND
21 deafness, autosomal dominant 36 10.0 LHFPL5 GJB2
22 deafness, autosomal recessive 16 10.0 LHFPL5 GJB2
23 deafness, autosomal recessive 17 10.0 IMMP2L DOCK4
24 expressive language disorder 10.0 IMMP2L DOCK4
25 deafness, autosomal dominant 11 10.0 GJB2 COCH
26 renal tubular transport disease 10.0 CLCNKA BSND
27 peripheral vertigo 10.0 GJB2 COCH
28 bartter disease 10.0 CLCNKA BSND
29 hereditary hearing loss and deafness 10.0 ESPN COCH BSND
30 deafness, autosomal recessive 1a 9.9 GJB2 COCH
31 usher syndrome, type id 9.9 LHFPL5 GJB2
32 deafness, autosomal recessive 85 9.9 TMPRSS3 LHFPL5
33 non-syndromic genetic deafness 9.9 KCNQ4 GJB2 COCH
34 deafness, autosomal recessive 83 9.9 TMPRSS3 LHFPL5
35 deafness, autosomal dominant 9 9.9 KCNQ4 GJB2 COCH
36 deafness, autosomal dominant 6 9.9 KCNQ4 GJB2 COCH
37 deafness, autosomal dominant 25 9.9 KCNQ4 GJB2 COCH
38 autosomal dominant non-syndromic sensorineural deafness type dfna 9.9 KCNQ4 GJB2 COCH
39 inner ear disease 9.9 KCNQ4 GJB2 COCH
40 deafness, autosomal dominant 2b 9.9 KCNQ4 GJB2 ESPN
41 usher syndrome, type ic 9.9 GJB2 DOCK4
42 gitelman syndrome 9.8 CLCNKA BSND
43 deafness, autosomal recessive 14 9.8 KCNQ4 IMMP2L DOCK4
44 usher syndrome 9.8 GJB2 ESPN COCH
45 reading disorder 9.8 IMMP2L DOCK4
46 diabetes insipidus, nephrogenic, autosomal 9.8 CLCNKA BSND
47 branchiootic syndrome 1 9.8 GJB2 CLCNKA
48 deafness, autosomal recessive 9 9.7 TMPRSS3 GJB2
49 deafness, autosomal recessive 8 9.7 TMPRSS3 GJB2
50 deafness, autosomal recessive 77 9.7 TMPRSS3 GJB2

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 2a:



Diseases related to Deafness, Autosomal Dominant 2a

Symptoms & Phenotypes for Deafness, Autosomal Dominant 2a

Human phenotypes related to Deafness, Autosomal Dominant 2a:

31
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 tinnitus 31 HP:0000360

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
deafness, postlingual
loss of high frequencies at onset
loss of mid- and low-frequencies later
tinnitus (variable)
no vestibular impairment

Clinical features from OMIM:

600101

GenomeRNAi Phenotypes related to Deafness, Autosomal Dominant 2a according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased infection with West Nile virus (WNV) GR00348-A-2 9.13 DOCK4 ESPN KCNH3
2 Decreased West Nile virus (WNV) infection GR00348-A-3 8.8 DOCK4 ESPN KCNH3

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 2a:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.56 BSND CLCNKA COCH ESPN GJB2 KCNQ4
2 nervous system MP:0003631 9.17 BSND ESPN GJB2 KCNH3 KCNQ4 LHFPL5

Drugs & Therapeutics for Deafness, Autosomal Dominant 2a

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 2a

Genetic Tests for Deafness, Autosomal Dominant 2a

Anatomical Context for Deafness, Autosomal Dominant 2a

MalaCards organs/tissues related to Deafness, Autosomal Dominant 2a:

40
Brain

Publications for Deafness, Autosomal Dominant 2a

Articles related to Deafness, Autosomal Dominant 2a:

(show all 22)
# Title Authors PMID Year
1
A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression. 56 6
18030493 2008
2
A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation. 56 6
16596322 2006
3
KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. 56 6
10025409 1999
4
Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families. 56 6
8035838 1994
5
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 6
24651602 2014
6
Cellular and molecular mechanisms of autosomal dominant form of progressive hearing loss, DFNA2. 6
20966080 2011
7
DFNA2 Nonsyndromic Hearing Loss 6
20301388 2008
8
A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment. 6
12112653 2002
9
Clinical and genetic features of nonsyndromic autosomal dominant sensorineural hearing loss: KCNQ4 is a gene responsible in Japanese. 6
11450843 2001
10
Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region. 6
10925378 2000
11
Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. 56
10369879 1999
12
Deafness linked to DFNA2: one locus but how many genes? 56
10080176 1999
13
Hereditary Hearing Loss and Deafness Overview 6
20301607 1999
14
Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss. 6
10571947 1999
15
Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family. 56
9718342 1998
16
Inherited nonsyndromic hearing loss. An audiovestibular study in a large family with autosomal dominant progressive hearing loss related to DFNA2. 56
9193215 1997
17
Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p. 56
9126484 1997
18
Computational analysis based on audioprofiles: A new possibility for patient stratification in office-based otology. 61
31728177 2019
19
Novel Mutations in KCNQ4, LHFPL5 and COCH Genes in Iranian Families with Hearing Impairment. 61
31126177 2019
20
A novel frameshift mutation in KCNQ4 in a family with autosomal recessive non-syndromic hearing loss. 61
26036578 2015
21
A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family. 61
27081546 2015
22
Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL. 61
23443030 2013

Variations for Deafness, Autosomal Dominant 2a

ClinVar genetic disease variations for Deafness, Autosomal Dominant 2a:

6 (show all 34) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNQ4 NM_004700.4(KCNQ4):c.808T>C (p.Tyr270His)SNV Pathogenic 208367 rs797044967 1:41285118-41285118 1:40819446-40819446
2 KCNQ4 NM_004700.4(KCNQ4):c.823T>C (p.Trp275Arg)SNV Pathogenic 208368 rs797044968 1:41285133-41285133 1:40819461-40819461
3 KCNQ4 NM_004700.4(KCNQ4):c.871C>T (p.Pro291Ser)SNV Pathogenic 208369 rs797044969 1:41285583-41285583 1:40819911-40819911
4 KCNQ4 NM_004700.4(KCNQ4):c.872C>T (p.Pro291Leu)SNV Pathogenic 208370 rs797044970 1:41285584-41285584 1:40819912-40819912
5 KCNQ4 NM_004700.4(KCNQ4):c.891G>T (p.Arg297Ser)SNV Pathogenic 208371 rs797044971 1:41285603-41285603 1:40819931-40819931
6 KCNQ4 NM_004700.3(KCNQ4):c.1044_1051delTGCCTGGC (p.Ala349Profs)deletion Pathogenic 208372 rs797044972 1:41287988-41287995 1:40822313-40822320
7 KCNQ4 NM_004700.4(KCNQ4):c.2039C>T (p.Ser680Phe)SNV Pathogenic 208373 rs772135867 1:41304146-41304146 1:40838474-40838474
8 KCNQ4 NM_004700.4(KCNQ4):c.886G>A (p.Gly296Ser)SNV Pathogenic 6249 rs80358279 1:41285598-41285598 1:40819926-40819926
9 KCNQ4 NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser)SNV Pathogenic 6241 rs28937588 1:41285565-41285565 1:40819893-40819893
10 KCNQ4 NM_004700.4(KCNQ4):c.827G>C (p.Trp276Ser)SNV Pathogenic 6242 rs80358277 1:41285137-41285137 1:40819465-40819465
11 KCNQ4 NM_004700.4(KCNQ4):c.859G>C (p.Gly287Arg)SNV Pathogenic 156337 rs137853969 1:41285571-41285571 1:40819899-40819899
12 KCNQ4 NM_004700.4(KCNQ4):c.226_227GC[3] (p.His77fs)short repeat Pathogenic 208364 rs1553165199 1:41249989-41249990 1:40784317-40784318
13 KCNQ4 NM_004700.4(KCNQ4):c.689T>A (p.Val230Glu)SNV Pathogenic 208365 rs797044965 1:41284333-41284333 1:40818661-40818661
14 KCNQ4 NM_004700.4(KCNQ4):c.853G>T (p.Gly285Cys)SNV Pathogenic 6244 rs28937588 1:41285565-41285565 1:40819893-40819893
15 KCNQ4 NM_004700.4(KCNQ4):c.212_224del (p.Gln71fs)deletion Pathogenic 6245 rs80358271 1:41249976-41249988 1:40784304-40784316
16 KCNQ4 NM_004700.4(KCNQ4):c.842T>C (p.Leu281Ser)SNV Pathogenic 6246 rs80358278 1:41285554-41285554 1:40819882-40819882
17 KCNQ4 NM_004700.4(KCNQ4):c.821T>A (p.Leu274His)SNV Pathogenic 6247 rs80358276 1:41285131-41285131 1:40819459-40819459
18 KCNQ4 NM_004700.4(KCNQ4):c.211del (p.Gln71fs)deletion Pathogenic 6248 rs80358272 1:41249975-41249975 1:40784303-40784303
19 KCNQ4 NM_004700.4(KCNQ4):c.785A>T (p.Asp262Val)SNV Pathogenic 21427 rs80358275 1:41285095-41285095 1:40819423-40819423
20 KCNQ4 NM_004700.4(KCNQ4):c.546C>G (p.Phe182Leu)SNV Pathogenic 21424 rs80358273 1:41284190-41284190 1:40818518-40818518
21 KCNQ4 NM_004700.4(KCNQ4):c.778G>A (p.Glu260Lys)SNV Pathogenic 21426 rs80358274 1:41285088-41285088 1:40819416-40819416
22 c.667_684del(664_681del)deletion Pathogenic 65888
23 c.725G>ASNV Pathogenic 65893
24 KCNQ4 NM_004700.4(KCNQ4):c.140T>C (p.Leu47Pro)SNV Pathogenic 585006 rs1271250198 1:41249905-41249905 1:40784233-40784233
25 KCNQ4 NM_004700.4(KCNQ4):c.796G>T (p.Asp266Tyr)SNV Pathogenic 591002 rs1558014576 1:41285106-41285106 1:40819434-40819434
26 KCNQ4 NM_004700.4(KCNQ4):c.261_269del (p.Tyr88_Val90del)deletion Pathogenic 625441 rs1557977732 1:41250024-41250032 1:40784352-40784360
27 KCNQ4 NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser)SNV Pathogenic/Likely pathogenic 6243 rs28939710 1:41285852-41285852 1:40820180-40820180
28 KCNQ4 NM_004700.4(KCNQ4):c.803_805CCT[1] (p.Ser269del)short repeat Conflicting interpretations of pathogenicity 208366 rs797044966 1:41285111-41285113 1:40819439-40819441
29 KCNQ4 NM_004700.4(KCNQ4):c.829G>A (p.Gly277Arg)SNV Uncertain significance 178690 rs727504459 1:41285139-41285139 1:40819467-40819467
30 KCNQ4 NM_004700.4(KCNQ4):c.1503C>T (p.Thr501=)SNV Uncertain significance 21423 rs80358270 1:41296966-41296966 1:40831294-40831294
31 KCNQ4 NM_004700.4(KCNQ4):c.682G>T (p.Gly228Cys)SNV Uncertain significance 504603 rs367890569 1:41284326-41284326 1:40818654-40818654
32 KCNQ4 NM_004700.4(KCNQ4):c.708+14G>CSNV Benign 45104 rs2361660 1:41284366-41284366 1:40818694-40818694
33 KCNQ4 NM_004700.4(KCNQ4):c.777T>C (p.Ala259=)SNV Benign 45105 rs4660468 1:41285087-41285087 1:40819415-40819415
34 KCNQ4 NM_004700.4(KCNQ4):c.648C>T (p.Arg216=)SNV Benign 21425 rs80358269 1:41284292-41284292 1:40818620-40818620

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 2a:

73
# Symbol AA change Variation ID SNP ID
1 KCNQ4 p.Gly285Ser VAR_001547 rs28937588
2 KCNQ4 p.Trp276Ser VAR_008726 rs80358277
3 KCNQ4 p.Gly285Cys VAR_008727 rs28937588
4 KCNQ4 p.Gly321Ser VAR_008728 rs28939710
5 KCNQ4 p.Leu274His VAR_010936 rs80358276
6 KCNQ4 p.Leu281Ser VAR_010937 rs80358278
7 KCNQ4 p.Gly287Arg VAR_065779 rs137853969

Expression for Deafness, Autosomal Dominant 2a

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 2a.

Pathways for Deafness, Autosomal Dominant 2a

Pathways related to Deafness, Autosomal Dominant 2a according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.09 CLCNKA BSND

GO Terms for Deafness, Autosomal Dominant 2a

Cellular components related to Deafness, Autosomal Dominant 2a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 stereocilium GO:0032420 9.16 ESPN DOCK4
2 stereocilium tip GO:0032426 8.96 LHFPL5 ESPN
3 stereocilium bundle GO:0032421 8.62 ESPN DOCK4

Biological processes related to Deafness, Autosomal Dominant 2a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.56 LHFPL5 KCNQ4 KCNH3 CLCNKA
2 transmembrane transport GO:0055085 9.46 KCNQ4 KCNH3 GJB2 CLCNKA
3 regulation of ion transmembrane transport GO:0034765 9.13 KCNQ4 KCNH3 CLCNKA
4 sensory perception of sound GO:0007605 9.02 TMPRSS3 KCNQ4 GJB2 ESPN COCH

Molecular functions related to Deafness, Autosomal Dominant 2a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated potassium channel activity GO:0005249 8.96 KCNQ4 KCNH3
2 chloride channel activity GO:0005254 8.62 CLCNKA BSND

Sources for Deafness, Autosomal Dominant 2a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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