DFNA2A
MCID: DFN190
MIFTS: 42

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 73
Dfna2a 57 12 75
Autosomal Dominant Nonsyndromic Deafness 2a 12 15
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 2a 75
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 2a 75
Deafness, Autosomal Dominant, Type 2a 40
Deafness, Autosomal Dominant, 2a 75
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:
Onset and clinical course progressive
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 600101
Disease Ontology 12 DOID:0110558
ICD10 33 H90.3
MedGen 42 C2677637
MeSH 44 D006319
UMLS 73 C2677637

Summaries for Deafness, Autosomal Dominant 2a

UniProtKB/Swiss-Prot : 75 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 deafness, autosomal recessive 8 and deafness, autosomal recessive 98. 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 are Circadian entrainment and G-Beta Gamma Signaling. 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.

Description from OMIM: 600101

Related Diseases for Deafness, Autosomal Dominant 2a

Diseases in the Familial 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
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 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

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

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 8 10.2 TMPRSS3 TMPRSS4
2 deafness, autosomal recessive 98 10.2 TMPRSS3 TMPRSS4
3 deafness, autosomal recessive 24 10.1 TMPRSS3 TMPRSS4
4 deafness, autosomal recessive 85 10.1 TMPRSS3 TMPRSS4
5 deafness, autosomal recessive 83 10.1 TMPRSS3 TMPRSS4
6 benign neonatal seizures 10.1 KCNQ1 KCNQ4
7 deafness, autosomal dominant 24 10.1 GJB2 GJB6
8 kid syndrome 10.1 GJB2 GJB6
9 pseudoainhum 10.1 GJB2 GJB6
10 knuckle pads 10.1 GJB2 GJB6
11 knuckle pads, leukonychia, and sensorineural deafness 10.1 GJB2 GJB6
12 deafness, autosomal recessive 33 10.1 GJB2 PCDH15
13 deafness, x-linked 2 10.1 GJB2 GJB6
14 hodgkin's lymphoma, nodular sclerosis 10.1 GJB2 GJB6
15 vohwinkel syndrome 10.0 GJB2 GJB6
16 deafness, autosomal recessive 1a 10.0 GJB2 GJB6
17 deafness, autosomal recessive 25 10.0 TMPRSS3 TMPRSS4
18 congenital cytomegalovirus 10.0 GJB2 GJB6
19 dfnb1 10.0 GJB2 GJB6 PCDH15
20 deafness, autosomal recessive 23 10.0 GJB2 GJB6 PCDH15
21 deafness, autosomal recessive 12 10.0 GJB2 PCDH15
22 vestibular disease 10.0 COCH GJB2 GJB6
23 autosomal dominant nonsyndromic deafness 9.9 COCH GJB2 KCNQ4 WFS1
24 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.9 GJB2 GJB6 PCDH15 TMPRSS3
25 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.8 COCH GJB2 GJB6 WFS1
26 non-syndromic genetic deafness 9.8 COCH GJB2 KCNQ4 TMPRSS3 WFS1
27 deafness, autosomal dominant 6 9.8 COCH GJB2 TMPRSS3 TMPRSS4 WFS1
28 deafness, autosomal dominant 13 9.8 COCH GJB2 TMPRSS3 TMPRSS4 WFS1
29 inner ear disease 9.8 COCH GJB2 GJB6 KCNQ4 WFS1
30 long qt syndrome 15 9.7 CALM1 CALM2 CALM3
31 otomycosis 9.7 CALM1 CALM2 CALM3
32 external ear disease 9.7 CALM1 CALM2 CALM3
33 emery-dreifuss muscular dystrophy 5, autosomal dominant 9.7 CALM1 CALM2 CALM3
34 sporotrichosis 9.7 CALM1 CALM2 CALM3
35 otitis externa 9.7 CALM1 CALM2 CALM3
36 spontaneous ocular nystagmus 9.7 CALM1 CALM2 CALM3
37 deafness, autosomal recessive 44 9.7 CALM1 CALM2 CALM3
38 acute dacryocystitis 9.7 CALM1 CALM2 CALM3
39 dystonia 24 9.7 CALM1 CALM2 CALM3
40 gestational choriocarcinoma 9.7 CALM1 CALM2 CALM3
41 triosephosphate isomerase deficiency 9.7 CALM1 CALM2 CALM3
42 leber congenital amaurosis 2 9.7 CALM1 CALM2 CALM3
43 tinea unguium 9.7 CALM1 CALM2 CALM3
44 primary systemic mycosis 9.7 CALM1 CALM2 CALM3
45 clear cell acanthoma 9.7 CALM1 CALM2 CALM3
46 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.7 CALM1 KCNQ1
47 cardiomyopathy, dilated, 1a 9.7 CALM1 CALM2 CALM3
48 cardiomyopathy, dilated, 1p 9.7 CALM1 CALM2 CALM3
49 phaeohyphomycosis 9.7 CALM1 CALM2 CALM3
50 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 9.7 CALM1 CALM2 CALM3

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

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

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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.17 COCH GJB2 GJB6 KCNQ1 KCNQ4 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

Variations for Deafness, Autosomal Dominant 2a

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

75
# 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

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

6 (show top 50) (show all 54)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ4 NM_004700.3(KCNQ4): c.886G> A (p.Gly296Ser) single nucleotide variant Pathogenic rs80358279 GRCh38 Chromosome 1, 40819926: 40819926
2 KCNQ4 NM_004700.3(KCNQ4): c.853G> A (p.Gly285Ser) single nucleotide variant Pathogenic rs28937588 GRCh37 Chromosome 1, 41285565: 41285565
3 KCNQ4 NM_004700.3(KCNQ4): c.853G> A (p.Gly285Ser) single nucleotide variant Pathogenic rs28937588 GRCh38 Chromosome 1, 40819893: 40819893
4 KCNQ4 NM_004700.3(KCNQ4): c.827G> C (p.Trp276Ser) single nucleotide variant Pathogenic rs80358277 GRCh37 Chromosome 1, 41285137: 41285137
5 KCNQ4 NM_004700.3(KCNQ4): c.827G> C (p.Trp276Ser) single nucleotide variant Pathogenic rs80358277 GRCh38 Chromosome 1, 40819465: 40819465
6 KCNQ4 NM_004700.3(KCNQ4): c.961G> A (p.Gly321Ser) single nucleotide variant Pathogenic rs28939710 GRCh37 Chromosome 1, 41285852: 41285852
7 KCNQ4 NM_004700.3(KCNQ4): c.961G> A (p.Gly321Ser) single nucleotide variant Pathogenic rs28939710 GRCh38 Chromosome 1, 40820180: 40820180
8 KCNQ4 NM_004700.3(KCNQ4): c.853G> T (p.Gly285Cys) single nucleotide variant Pathogenic rs28937588 GRCh37 Chromosome 1, 41285565: 41285565
9 KCNQ4 NM_004700.3(KCNQ4): c.853G> T (p.Gly285Cys) single nucleotide variant Pathogenic rs28937588 GRCh38 Chromosome 1, 40819893: 40819893
10 KCNQ4 NM_004700.3(KCNQ4): c.211_223delCAGCGCTCCTCGG (p.Gln71Profs) deletion Pathogenic rs80358271 GRCh37 Chromosome 1, 41249976: 41249988
11 KCNQ4 NM_004700.3(KCNQ4): c.211_223delCAGCGCTCCTCGG (p.Gln71Profs) deletion Pathogenic rs80358271 GRCh38 Chromosome 1, 40784304: 40784316
12 KCNQ4 NM_004700.3(KCNQ4): c.842T> C (p.Leu281Ser) single nucleotide variant Pathogenic rs80358278 GRCh37 Chromosome 1, 41285554: 41285554
13 KCNQ4 NM_004700.3(KCNQ4): c.842T> C (p.Leu281Ser) single nucleotide variant Pathogenic rs80358278 GRCh38 Chromosome 1, 40819882: 40819882
14 KCNQ4 NM_004700.3(KCNQ4): c.821T> A (p.Leu274His) single nucleotide variant Pathogenic rs80358276 GRCh37 Chromosome 1, 41285131: 41285131
15 KCNQ4 NM_004700.3(KCNQ4): c.821T> A (p.Leu274His) single nucleotide variant Pathogenic rs80358276 GRCh38 Chromosome 1, 40819459: 40819459
16 KCNQ4 NM_004700.3(KCNQ4): c.211delC (p.Gln71Serfs) deletion Pathogenic rs80358272 GRCh37 Chromosome 1, 41249976: 41249976
17 KCNQ4 NM_004700.3(KCNQ4): c.211delC (p.Gln71Serfs) deletion Pathogenic rs80358272 GRCh38 Chromosome 1, 40784304: 40784304
18 KCNQ4 NM_004700.3(KCNQ4): c.886G> A (p.Gly296Ser) single nucleotide variant Pathogenic rs80358279 GRCh37 Chromosome 1, 41285598: 41285598
19 KCNQ4 NM_004700.3(KCNQ4): c.1503C> T (p.Thr501=) single nucleotide variant Uncertain significance rs80358270 GRCh37 Chromosome 1, 41296966: 41296966
20 KCNQ4 NM_004700.3(KCNQ4): c.1503C> T (p.Thr501=) single nucleotide variant Uncertain significance rs80358270 GRCh38 Chromosome 1, 40831294: 40831294
21 KCNQ4 NM_004700.3(KCNQ4): c.546C> G (p.Phe182Leu) single nucleotide variant Pathogenic rs80358273 GRCh37 Chromosome 1, 41284190: 41284190
22 KCNQ4 NM_004700.3(KCNQ4): c.546C> G (p.Phe182Leu) single nucleotide variant Pathogenic rs80358273 GRCh38 Chromosome 1, 40818518: 40818518
23 KCNQ4 NM_004700.3(KCNQ4): c.648C> T (p.Arg216=) single nucleotide variant Uncertain significance rs80358269 GRCh37 Chromosome 1, 41284292: 41284292
24 KCNQ4 NM_004700.3(KCNQ4): c.648C> T (p.Arg216=) single nucleotide variant Uncertain significance rs80358269 GRCh38 Chromosome 1, 40818620: 40818620
25 KCNQ4 NM_004700.3(KCNQ4): c.778G> A (p.Glu260Lys) single nucleotide variant Pathogenic rs80358274 GRCh37 Chromosome 1, 41285088: 41285088
26 KCNQ4 NM_004700.3(KCNQ4): c.778G> A (p.Glu260Lys) single nucleotide variant Pathogenic rs80358274 GRCh38 Chromosome 1, 40819416: 40819416
27 KCNQ4 NM_004700.3(KCNQ4): c.785A> T (p.Asp262Val) single nucleotide variant Pathogenic rs80358275 GRCh37 Chromosome 1, 41285095: 41285095
28 KCNQ4 NM_004700.3(KCNQ4): c.785A> T (p.Asp262Val) single nucleotide variant Pathogenic rs80358275 GRCh38 Chromosome 1, 40819423: 40819423
29 KCNQ4 NM_004700.3(KCNQ4): c.708+14G> C single nucleotide variant Benign rs2361660 GRCh37 Chromosome 1, 41284366: 41284366
30 KCNQ4 NM_004700.3(KCNQ4): c.708+14G> C single nucleotide variant Benign rs2361660 GRCh38 Chromosome 1, 40818694: 40818694
31 KCNQ4 NM_004700.3(KCNQ4): c.777T> C (p.Ala259=) single nucleotide variant Benign rs4660468 GRCh37 Chromosome 1, 41285087: 41285087
32 KCNQ4 NM_004700.3(KCNQ4): c.777T> C (p.Ala259=) single nucleotide variant Benign rs4660468 GRCh38 Chromosome 1, 40819415: 40819415
33 KCNQ4 NM_004700.3(KCNQ4): c.228_229dupGC (p.His77Argfs) duplication Pathogenic rs748123571 GRCh38 Chromosome 1, 40784321: 40784322
34 KCNQ4 NM_004700.3(KCNQ4): c.228_229dupGC (p.His77Argfs) duplication Pathogenic rs748123571 GRCh37 Chromosome 1, 41249993: 41249994
35 KCNQ4 NM_004700.3(KCNQ4): c.689T> A (p.Val230Glu) single nucleotide variant Pathogenic rs797044965 GRCh38 Chromosome 1, 40818661: 40818661
36 KCNQ4 NM_004700.3(KCNQ4): c.689T> A (p.Val230Glu) single nucleotide variant Pathogenic rs797044965 GRCh37 Chromosome 1, 41284333: 41284333
37 KCNQ4 NM_004700.3(KCNQ4): c.806_808delCCT (p.Ser269del) deletion Likely pathogenic rs797044966 GRCh38 Chromosome 1, 40819444: 40819446
38 KCNQ4 NM_004700.3(KCNQ4): c.806_808delCCT (p.Ser269del) deletion Likely pathogenic rs797044966 GRCh37 Chromosome 1, 41285116: 41285118
39 KCNQ4 NM_004700.3(KCNQ4): c.808T> C (p.Tyr270His) single nucleotide variant Pathogenic rs797044967 GRCh38 Chromosome 1, 40819446: 40819446
40 KCNQ4 NM_004700.3(KCNQ4): c.808T> C (p.Tyr270His) single nucleotide variant Pathogenic rs797044967 GRCh37 Chromosome 1, 41285118: 41285118
41 KCNQ4 NM_004700.3(KCNQ4): c.823T> C (p.Trp275Arg) single nucleotide variant Pathogenic rs797044968 GRCh38 Chromosome 1, 40819461: 40819461
42 KCNQ4 NM_004700.3(KCNQ4): c.823T> C (p.Trp275Arg) single nucleotide variant Pathogenic rs797044968 GRCh37 Chromosome 1, 41285133: 41285133
43 KCNQ4 NM_004700.3(KCNQ4): c.871C> T (p.Pro291Ser) single nucleotide variant Pathogenic rs797044969 GRCh38 Chromosome 1, 40819911: 40819911
44 KCNQ4 NM_004700.3(KCNQ4): c.871C> T (p.Pro291Ser) single nucleotide variant Pathogenic rs797044969 GRCh37 Chromosome 1, 41285583: 41285583
45 KCNQ4 NM_004700.3(KCNQ4): c.872C> T (p.Pro291Leu) single nucleotide variant Pathogenic rs797044970 GRCh38 Chromosome 1, 40819912: 40819912
46 KCNQ4 NM_004700.3(KCNQ4): c.872C> T (p.Pro291Leu) single nucleotide variant Pathogenic rs797044970 GRCh37 Chromosome 1, 41285584: 41285584
47 KCNQ4 NM_004700.3(KCNQ4): c.891G> T (p.Arg297Ser) single nucleotide variant Pathogenic rs797044971 GRCh38 Chromosome 1, 40819931: 40819931
48 KCNQ4 NM_004700.3(KCNQ4): c.891G> T (p.Arg297Ser) single nucleotide variant Pathogenic rs797044971 GRCh37 Chromosome 1, 41285603: 41285603
49 KCNQ4 NM_004700.3(KCNQ4): c.1044_1051delTGCCTGGC (p.Ala349Profs) deletion Pathogenic rs797044972 GRCh38 Chromosome 1, 40822316: 40822323
50 KCNQ4 NM_004700.3(KCNQ4): c.1044_1051delTGCCTGGC (p.Ala349Profs) deletion Pathogenic rs797044972 GRCh37 Chromosome 1, 41287988: 41287995

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:

(show top 50) (show all 59)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.94 CALM1 CALM2 CALM3 KCNQ1 KCNQ4
2
Show member pathways
12.93 CALM1 CALM2 CALM3 GJB2 GJB6
3
Show member pathways
12.91 CALM1 CALM2 CALM3 KCNQ1 KCNQ4
4
Show member pathways
12.68 CALM1 CALM2 CALM3 KCNQ1
5
Show member pathways
12.64 CALM1 CALM2 CALM3 DOCK4
6
Show member pathways
12.29 CALM1 CALM2 CALM3 GJB2 GJB6
7
Show member pathways
12.17 CALM1 CALM2 CALM3
8
Show member pathways
12.15 CALM1 CALM2 CALM3
9 12.14 CALM1 CALM2 CALM3
10
Show member pathways
12.13 CALM1 CALM2 CALM3
11
Show member pathways
12.13 CALM1 CALM2 CALM3
12
Show member pathways
12.1 CALM1 CALM2 CALM3
13
Show member pathways
12.08 CALM1 CALM2 CALM3
14 12.08 CALM1 CALM2 CALM3
15
Show member pathways
12.08 CALM1 CALM2 CALM3 KCNQ1
16
Show member pathways
12.07 CALM1 CALM2 CALM3
17
Show member pathways
12.04 CALM1 CALM2 CALM3
18 12.01 CALM1 CALM2 CALM3
19 12 CALM1 CALM2 CALM3
20
Show member pathways
11.94 CALM1 CALM2 CALM3
21
Show member pathways
11.92 CALM1 CALM2 CALM3
22 11.91 CALM1 CALM2 CALM3 KCNQ1 KCNQ4
23
Show member pathways
11.89 CALM1 CALM2 CALM3
24
Show member pathways
11.86 CALM1 CALM2 CALM3
25 11.84 CALM1 CALM2 CALM3
26 11.83 CALM1 CALM2 CALM3
27 11.82 CALM1 CALM2 CALM3
28
Show member pathways
11.81 CALM1 CALM2 CALM3
29
Show member pathways
11.78 CALM1 CALM2 CALM3
30
Show member pathways
11.77 CALM1 CALM2 CALM3
31
Show member pathways
11.7 CALM1 CALM2 CALM3
32
Show member pathways
11.69 CALM1 CALM2 CALM3
33
Show member pathways
11.67 CALM1 CALM2 CALM3
34 11.67 CALM1 CALM2 CALM3
35 11.65 CALM1 CALM2 CALM3
36
Show member pathways
11.6 CALM1 CALM2 CALM3
37 11.58 CALM1 CALM2 CALM3
38 11.55 CALM1 CALM2 CALM3
39
Show member pathways
11.54 CALM1 CALM2 CALM3
40 11.5 CALM1 CALM2 CALM3
41 11.48 CALM1 CALM2 CALM3
42 11.45 CALM1 CALM2 CALM3
43 11.28 CALM1 CALM2 CALM3
44 11.27 CALM1 CALM2 CALM3
45 11.24 CALM1 CALM2 CALM3
46 11.21 CALM1 CALM2
47 11.21 CALM1 CALM2 CALM3
48 11.2 CALM1 CALM2 CALM3
49 11.16 CALM1 CALM2 CALM3
50
Show member pathways
11.13 CALM1 CALM2 CALM3 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 vesicle GO:0031982 9.63 CALM1 CALM2 CALM3
2 myelin sheath GO:0043209 9.61 CALM1 CALM2 CALM3
3 spindle pole GO:0000922 9.54 CALM1 CALM2 CALM3
4 sarcomere GO:0030017 9.5 CALM1 CALM2 CALM3
5 spindle microtubule GO:0005876 9.43 CALM1 CALM2 CALM3
6 connexin complex GO:0005922 9.4 GJB2 GJB6
7 calcium channel complex GO:0034704 9.33 CALM1 CALM2 CALM3
8 voltage-gated potassium channel complex GO:0008076 9.26 CALM2 CALM3 KCNQ1 KCNQ4
9 catalytic complex GO:1902494 8.8 CALM1 CALM2 CALM3

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 calcium-mediated signaling GO:0019722 9.79 CALM1 CALM2 CALM3
2 response to calcium ion GO:0051592 9.78 CALM1 CALM2 CALM3
3 positive regulation of protein serine/threonine kinase activity GO:0071902 9.77 CALM1 CALM2 CALM3
4 substantia nigra development GO:0021762 9.77 CALM1 CALM2 CALM3
5 regulation of cytokinesis GO:0032465 9.76 CALM1 CALM2 CALM3
6 regulation of heart rate GO:0002027 9.75 CALM1 CALM2 CALM3
7 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.73 CALM1 CALM2 CALM3
8 positive regulation of protein dephosphorylation GO:0035307 9.72 CALM1 CALM2 CALM3
9 positive regulation of protein autophosphorylation GO:0031954 9.71 CALM1 CALM2 CALM3
10 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.7 CALM1 CALM2 CALM3
11 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.69 CALM1 CALM2 CALM3
12 regulation of cardiac muscle contraction GO:0055117 9.67 CALM1 CALM2 CALM3
13 inner ear development GO:0048839 9.67 GJB2 GJB6 KCNQ1 PCDH15
14 positive regulation of DNA binding GO:0043388 9.65 CALM2 CALM3
15 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.65 CALM1 CALM2 CALM3
16 positive regulation of nitric-oxide synthase activity GO:0051000 9.64 CALM1 CALM3
17 response to corticosterone GO:0051412 9.64 CALM1 CALM3
18 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.63 CALM1 CALM3
19 regulation of synaptic vesicle endocytosis GO:1900242 9.63 CALM1 CALM3
20 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.63 CALM1 CALM2 CALM3
21 establishment of protein localization to membrane GO:0090150 9.62 CALM1 CALM3
22 regulation of high voltage-gated calcium channel activity GO:1901841 9.61 CALM1 CALM3
23 detection of calcium ion GO:0005513 9.61 CALM1 CALM2 CALM3
24 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.58 CALM1 CALM2 CALM3
25 establishment of protein localization to mitochondrial membrane GO:0090151 9.57 CALM1 CALM3
26 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.5 CALM1 CALM2 CALM3
27 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.43 CALM1 CALM2 CALM3
28 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.33 CALM1 CALM2 CALM3
29 sensory perception of sound GO:0007605 9.23 COCH GJB2 GJB6 KCNQ1 KCNQ4 PCDH15
30 positive regulation by host of symbiont cAMP-mediated signal transduction GO:0075206 9.13 CALM1 CALM2 CALM3

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.73 CALM1 CALM2 CALM3 KCNQ1
2 serine-type peptidase activity GO:0008236 9.72 IMMP2L TMPRSS3 TMPRSS4
3 calcium-dependent protein binding GO:0048306 9.65 CALM1 CALM3 WFS1
4 disordered domain specific binding GO:0097718 9.63 CALM1 CALM2 CALM3
5 enzyme regulator activity GO:0030234 9.56 CALM1 CALM3
6 phosphatidylinositol 3-kinase binding GO:0043548 9.54 CALM1 CALM3
7 protein serine/threonine kinase activator activity GO:0043539 9.54 CALM1 CALM2 CALM3
8 nitric-oxide synthase binding GO:0050998 9.52 CALM1 CALM3
9 calcium channel inhibitor activity GO:0019855 9.51 CALM1 CALM2
10 titin binding GO:0031432 9.5 CALM1 CALM2 CALM3
11 nitric-oxide synthase regulator activity GO:0030235 9.49 CALM1 CALM3
12 adenylate cyclase binding GO:0008179 9.43 CALM1 CALM2 CALM3
13 type 3 metabotropic glutamate receptor binding GO:0031800 9.4 CALM1 CALM3
14 protein phosphatase activator activity GO:0072542 9.33 CALM1 CALM2 CALM3
15 adenylate cyclase activator activity GO:0010856 9.13 CALM1 CALM2 CALM3
16 N-terminal myristoylation domain binding GO:0031997 8.8 CALM1 CALM2 CALM3

Sources for Deafness, Autosomal Dominant 2a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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