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 57 13 72
Dfna2a 57 12 74
Autosomal Dominant Nonsyndromic Deafness 2a 12 15
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 2a 74
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 2a 74
Deafness, Autosomal Dominant, Type 2a 40
Deafness, Autosomal Dominant, 2a 74
Autosomal Dominant Deafness 2a 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
deafness, autosomal dominant 2a:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0110558
MeSH 44 D006319
ICD10 33 H90.3
MedGen 42 C2677637
UMLS 72 C2677637

Summaries for Deafness, Autosomal Dominant 2a

UniProtKB/Swiss-Prot : 74 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 recessive 8. 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 Celecoxib 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 Familial Deafness

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

(show all 39)
# Related Disease Score Top Affiliating Genes
1 sensorineural hearing loss 27.9 WFS1 PCDH15 KCNQ4 GJB6 GJB2 COCH
2 deafness, autosomal recessive 8 10.3 TMPRSS4 TMPRSS3
3 deafness, autosomal recessive 98 10.2 TMPRSS4 TMPRSS3
4 wolfram syndrome 1 10.2
5 benign neonatal seizures 10.2 KCNQ4 KCNQ1
6 deafness, autosomal recessive 24 10.2 TMPRSS4 TMPRSS3
7 deafness, autosomal recessive 25 10.1 TMPRSS4 TMPRSS3
8 deafness, autosomal recessive 33 10.1 PCDH15 GJB2
9 deafness, autosomal recessive 67 10.0 LHFPL5 GJB2
10 deafness, autosomal recessive 83 10.0 TMPRSS4 TMPRSS3 LHFPL5
11 deafness, autosomal recessive 85 10.0 TMPRSS4 TMPRSS3 LHFPL5
12 deafness, autosomal recessive 12 10.0 PCDH15 GJB2
13 deafness, autosomal dominant 24 10.0 GJB6 GJB2
14 kid syndrome 10.0 GJB6 GJB2
15 pseudoainhum 10.0 GJB6 GJB2
16 knuckle pads 10.0 GJB6 GJB2
17 knuckle pads, leukonychia, and sensorineural deafness 10.0 GJB6 GJB2
18 deafness, x-linked 2 10.0 GJB6 GJB2
19 hodgkin's lymphoma, nodular sclerosis 10.0 GJB6 GJB2
20 vohwinkel syndrome 9.9 GJB6 GJB2
21 congenital cytomegalovirus 9.9 GJB6 GJB2
22 deafness, autosomal recessive 1a 9.9 GJB6 GJB2
23 autosomal recessive nonsyndromic deafness 9.9 TMPRSS3 GJB2
24 autosomal dominant nonsyndromic deafness 9.9 WFS1 COCH
25 erythrokeratodermia variabilis et progressiva 1 9.8 GJB6 GJB2
26 vestibular disease 9.7 GJB6 GJB2 COCH
27 dfnb1 9.6 PCDH15 GJB6 GJB2
28 deafness, autosomal recessive 23 9.6 PCDH15 GJB6 GJB2
29 clouston syndrome 9.6 GJB6 GJB2
30 keratitis, hereditary 9.4 GJB6 GJB2
31 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.0 TMPRSS3 PCDH15 LHFPL5 GJB6 GJB2
32 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.0 WFS1 GJB6 GJB2 COCH
33 non-syndromic genetic deafness 9.0 WFS1 TMPRSS3 KCNQ4 GJB2 COCH
34 deafness, autosomal dominant 6 8.8 WFS1 TMPRSS4 TMPRSS3 GJB2 COCH
35 deafness, autosomal dominant 13 8.8 WFS1 TMPRSS4 TMPRSS3 GJB2 COCH
36 auditory system disease 8.8 TMPRSS3 PCDH15 KCNQ4 GJB6 GJB2 COCH
37 inner ear disease 8.7 WFS1 KCNQ4 GJB6 GJB2 COCH
38 deafness, autosomal recessive 16 8.2 WFS1 TMPRSS4 TMPRSS3 GJB6 GJB2 COCH
39 nonsyndromic deafness 7.3 WFS1 TMPRSS4 TMPRSS3 PCDH15 LHFPL5 KCNQ4

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:

32
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 HP:0000365
2 tinnitus 32 HP:0000360

Symptoms via clinical synopsis from OMIM:

57
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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.56 COCH GJB2 GJB6 KCNQ1 KCNQ4 LHFPL5
2 nervous system MP:0003631 9.17 GJB2 GJB6 KCNQ1 KCNQ4 LHFPL5 PCDH15

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:

41
Brain

Publications for Deafness, Autosomal Dominant 2a

Articles related to Deafness, Autosomal Dominant 2a:

(show all 21)
# Title Authors PMID Year
1
A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression. 8 71
18030493 2008
2
A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation. 8 71
16596322 2006
3
KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. 8 71
10025409 1999
4
Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families. 8 71
8035838 1994
5
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 71
24651602 2014
6
Cellular and molecular mechanisms of autosomal dominant form of progressive hearing loss, DFNA2. 71
20966080 2011
7
DFNA2 Nonsyndromic Hearing Loss 71
20301388 2008
8
A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment. 71
12112653 2002
9
Clinical and genetic features of nonsyndromic autosomal dominant sensorineural hearing loss: KCNQ4 is a gene responsible in Japanese. 71
11450843 2001
10
Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region. 71
10925378 2000
11
Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. 8
10369879 1999
12
Deafness linked to DFNA2: one locus but how many genes? 8
10080176 1999
13
Hereditary Hearing Loss and Deafness Overview 71
20301607 1999
14
Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss. 71
10571947 1999
15
Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family. 8
9718342 1998
16
Inherited nonsyndromic hearing loss. An audiovestibular study in a large family with autosomal dominant progressive hearing loss related to DFNA2. 8
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. 8
9126484 1997
18
Novel Mutations in KCNQ4, LHFPL5 and COCH Genes in Iranian Families with Hearing Impairment. 38
31126177 2019
19
A novel frameshift mutation in KCNQ4 in a family with autosomal recessive non-syndromic hearing loss. 38
26036578 2015
20
A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family. 38
27081546 2015
21
Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL. 38
23443030 2013

Variations for Deafness, Autosomal Dominant 2a

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

6 (show all 34)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KCNQ4 NM_004700.4(KCNQ4): c.886G> A (p.Gly296Ser) single nucleotide variant Pathogenic rs80358279 1:41285598-41285598 1:40819926-40819926
2 KCNQ4 NM_004700.4(KCNQ4): c.853G> A (p.Gly285Ser) single nucleotide variant Pathogenic rs28937588 1:41285565-41285565 1:40819893-40819893
3 KCNQ4 NM_004700.4(KCNQ4): c.827G> C (p.Trp276Ser) single nucleotide variant Pathogenic rs80358277 1:41285137-41285137 1:40819465-40819465
4 KCNQ4 NM_004700.4(KCNQ4): c.853G> T (p.Gly285Cys) single nucleotide variant Pathogenic rs28937588 1:41285565-41285565 1:40819893-40819893
5 KCNQ4 NM_004700.4(KCNQ4): c.212_224del (p.Gln71fs) deletion Pathogenic rs80358271 1:41249976-41249988 1:40784304-40784316
6 KCNQ4 NM_004700.4(KCNQ4): c.842T> C (p.Leu281Ser) single nucleotide variant Pathogenic rs80358278 1:41285554-41285554 1:40819882-40819882
7 KCNQ4 NM_004700.4(KCNQ4): c.821T> A (p.Leu274His) single nucleotide variant Pathogenic rs80358276 1:41285131-41285131 1:40819459-40819459
8 KCNQ4 NM_004700.4(KCNQ4): c.211del (p.Gln71fs) deletion Pathogenic rs80358272 1:41249976-41249976 1:40784304-40784304
9 KCNQ4 NM_004700.4(KCNQ4): c.778G> A (p.Glu260Lys) single nucleotide variant Pathogenic rs80358274 1:41285088-41285088 1:40819416-40819416
10 KCNQ4 NM_004700.4(KCNQ4): c.785A> T (p.Asp262Val) single nucleotide variant Pathogenic rs80358275 1:41285095-41285095 1:40819423-40819423
11 c.667_684del(664_681del) deletion Pathogenic
12 c.725G> A single nucleotide variant Pathogenic
13 KCNQ4 NM_004700.4(KCNQ4): c.859G> C (p.Gly287Arg) single nucleotide variant Pathogenic rs137853969 1:41285571-41285571 1:40819899-40819899
14 KCNQ4 NM_004700.4(KCNQ4): c.808T> C (p.Tyr270His) single nucleotide variant Pathogenic rs797044967 1:41285118-41285118 1:40819446-40819446
15 KCNQ4 NM_004700.4(KCNQ4): c.823T> C (p.Trp275Arg) single nucleotide variant Pathogenic rs797044968 1:41285133-41285133 1:40819461-40819461
16 KCNQ4 NM_004700.4(KCNQ4): c.871C> T (p.Pro291Ser) single nucleotide variant Pathogenic rs797044969 1:41285583-41285583 1:40819911-40819911
17 KCNQ4 NM_004700.4(KCNQ4): c.872C> T (p.Pro291Leu) single nucleotide variant Pathogenic rs797044970 1:41285584-41285584 1:40819912-40819912
18 KCNQ4 NM_004700.4(KCNQ4): c.891G> T (p.Arg297Ser) single nucleotide variant Pathogenic rs797044971 1:41285603-41285603 1:40819931-40819931
19 KCNQ4 NM_004700.3(KCNQ4): c.1044_1051delTGCCTGGC (p.Ala349Profs) deletion Pathogenic rs797044972 1:41287988-41287995 1:40822316-40822323
20 KCNQ4 NM_004700.4(KCNQ4): c.2039C> T (p.Ser680Phe) single nucleotide variant Pathogenic rs772135867 1:41304146-41304146 1:40838474-40838474
21 KCNQ4 NM_004700.4(KCNQ4): c.796G> T (p.Asp266Tyr) single nucleotide variant Pathogenic 1:41285106-41285106 1:40819434-40819434
22 KCNQ4 NM_004700.4(KCNQ4): c.261_269del (p.Tyr88_Val90del) deletion Pathogenic 1:41250026-41250034 1:40784354-40784362
23 KCNQ4 NM_004700.4(KCNQ4): c.140T> C (p.Leu47Pro) single nucleotide variant Pathogenic 1:41249905-41249905 1:40784233-40784233
24 KCNQ4 NM_004700.4(KCNQ4): c.546C> G (p.Phe182Leu) single nucleotide variant Pathogenic rs80358273 1:41284190-41284190 1:40818518-40818518
25 KCNQ4 NM_004700.4(KCNQ4): c.226_227GC[3] (p.His77fs) short repeat Pathogenic rs1553165199 1:41249993-41249994 1:40784321-40784322
26 KCNQ4 NM_004700.4(KCNQ4): c.689T> A (p.Val230Glu) single nucleotide variant Pathogenic rs797044965 1:41284333-41284333 1:40818661-40818661
27 KCNQ4 NM_004700.4(KCNQ4): c.961G> A (p.Gly321Ser) single nucleotide variant Pathogenic/Likely pathogenic rs28939710 1:41285852-41285852 1:40820180-40820180
28 KCNQ4 NM_004700.4(KCNQ4): c.803_805CCT[1] (p.Ser269del) short repeat Likely pathogenic rs797044966 1:41285116-41285118 1:40819444-40819446
29 KCNQ4 NM_004700.4(KCNQ4): c.648C> T (p.Arg216=) single nucleotide variant Uncertain significance rs80358269 1:41284292-41284292 1:40818620-40818620
30 KCNQ4 NM_004700.4(KCNQ4): c.682G> T (p.Gly228Cys) single nucleotide variant Uncertain significance rs367890569 1:41284326-41284326 1:40818654-40818654
31 KCNQ4 NM_004700.4(KCNQ4): c.1503C> T (p.Thr501=) single nucleotide variant Uncertain significance rs80358270 1:41296966-41296966 1:40831294-40831294
32 KCNQ4 NM_004700.4(KCNQ4): c.829G> A (p.Gly277Arg) single nucleotide variant Uncertain significance rs727504459 1:41285139-41285139 1:40819467-40819467
33 KCNQ4 NM_004700.4(KCNQ4): c.708+14G> C single nucleotide variant Benign rs2361660 1:41284366-41284366 1:40818694-40818694
34 KCNQ4 NM_004700.4(KCNQ4): c.777T> C (p.Ala259=) single nucleotide variant Benign rs4660468 1:41285087-41285087 1:40819415-40819415

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

74
# 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 10.39 KCNQ4 KCNQ1

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 membrane GO:0016020 9.7 WFS1 TMPRSS4 TMPRSS3 PCDH15 LHFPL5 KCNQ4
2 stereocilium GO:0032420 9.32 PCDH15 DOCK4
3 integral component of membrane GO:0016021 9.32 WFS1 TMPRSS4 TMPRSS3 PCDH15 LHFPL5 KCNQ4
4 gap junction GO:0005921 9.26 GJB6 GJB2
5 connexin complex GO:0005922 9.16 GJB6 GJB2

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

# Name GO ID Score Top Affiliating Genes
1 inner ear development GO:0048839 9.26 PCDH15 KCNQ1 GJB6 GJB2
2 sensory perception of sound GO:0007605 9.23 WFS1 TMPRSS3 PCDH15 KCNQ4 KCNQ1 GJB6
3 cell communication GO:0007154 9.16 GJB6 GJB2

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

# Name GO ID Score Top Affiliating Genes
1 scavenger receptor activity GO:0005044 9.26 TMPRSS4 TMPRSS3
2 delayed rectifier potassium channel activity GO:0005251 9.16 KCNQ4 KCNQ1
3 calmodulin binding GO:0005516 9.13 WFS1 KCNQ4 KCNQ1
4 serine-type peptidase activity GO:0008236 8.8 TMPRSS4 TMPRSS3 IMMP2L

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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