MCID: DFN190
MIFTS: 41

Deafness, Autosomal Dominant 2a

Categories: Genetic diseases, Ear diseases, Neuronal diseases, Fetal diseases, Blood diseases, Rare diseases, Cardiovascular 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:
onset between ages 5 and 15 years
progressive disorder
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:

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 98 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 are Circadian entrainment and G-Beta Gamma Signaling. Affiliated tissues include brain, and related phenotypes are tinnitus and hearing impairment

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 32 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 Recessive 105 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 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 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 55)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 98 10.6 TMPRSS3 TMPRSS4
2 deafness, autosomal recessive 8 10.6 TMPRSS3 TMPRSS4
3 deafness, autosomal recessive 24 10.4 TMPRSS3 TMPRSS4
4 deafness, autosomal recessive 85 10.4 TMPRSS3 TMPRSS4
5 deafness, autosomal recessive 83 10.3 TMPRSS3 TMPRSS4
6 deafness, autosomal dominant 24 10.3 GJB2 GJB6
7 kid syndrome 10.2 GJB2 GJB6
8 pseudoainhum 10.2 GJB2 GJB6
9 congenital cytomegalovirus 10.2 GJB2 GJB6
10 knuckle pads, leukonychia, and sensorineural deafness 10.2 GJB2 GJB6
11 deafness, x-linked 2 10.2 GJB2 GJB6
12 hodgkin's lymphoma, nodular sclerosis 10.2 GJB2 GJB6
13 deafness, autosomal recessive 33 10.1 GJB2 PCDH15
14 vohwinkel syndrome 10.1 GJB2 GJB6
15 deafness, autosomal recessive 1a 10.1 GJB2 GJB6
16 knuckle pads 10.1 GJB2 GJB6
17 dfnb1 9.9 GJB2 GJB6 PCDH15
18 deafness, autosomal recessive 23 9.9 GJB2 GJB6 PCDH15
19 deafness, autosomal recessive 25 9.9 TMPRSS3 TMPRSS4
20 vestibular disease 9.9 COCH GJB2 GJB6
21 deafness, autosomal recessive 12 9.8 GJB2 PCDH15
22 autosomal dominant nonsyndromic deafness 9.7 COCH GJB2 KCNQ4 WFS1
23 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.6 GJB2 GJB6 PCDH15 TMPRSS3
24 gestational choriocarcinoma 9.5 CALM1 CALM3
25 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.5 COCH GJB2 GJB6 WFS1
26 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.4 CALM1 KCNQ1
27 non-syndromic genetic deafness 9.4 COCH GJB2 KCNQ4 TMPRSS3 WFS1
28 deafness, autosomal dominant 6 9.3 COCH GJB2 TMPRSS3 TMPRSS4 WFS1
29 deafness, autosomal dominant 13 9.3 COCH GJB2 TMPRSS3 TMPRSS4 WFS1
30 autosomal dominant non-syndromic sensorineural deafness type dfna 9.2 COCH GJB2 GJB6 KCNQ4 WFS1
31 inner ear disease 9.2 COCH GJB2 GJB6 KCNQ4 WFS1
32 acute dacryocystitis 9.1 CALM1 CALM2 CALM3
33 external ear disease 9.1 CALM1 CALM2 CALM3
34 long qt syndrome 15 9.1 CALM1 CALM2 CALM3
35 otitis externa 9.1 CALM1 CALM2 CALM3
36 otomycosis 9.1 CALM1 CALM2 CALM3
37 spontaneous ocular nystagmus 9.1 CALM1 CALM2 CALM3
38 sporotrichosis 9.1 CALM1 CALM2 CALM3
39 deafness, autosomal recessive 44 9.1 CALM1 CALM2 CALM3
40 cardiac arrest 9.1 CALM1 CALM3 KCNQ1
41 dystonia 24 9.1 CALM1 CALM2 CALM3
42 triosephosphate isomerase deficiency 9.1 CALM1 CALM2 CALM3
43 leber congenital amaurosis 2 9.1 CALM1 CALM2 CALM3
44 primary systemic mycosis 9.1 CALM1 CALM2 CALM3
45 clear cell acanthoma 9.1 CALM1 CALM2 CALM3
46 cardiomyopathy, dilated, 1a 9.1 CALM1 CALM2 CALM3
47 cardiomyopathy, dilated, 1p 9.0 CALM1 CALM2 CALM3
48 primary cutaneous amyloidosis 9.0 CALM1 CALM2 CALM3
49 catecholaminergic polymorphic ventricular tachycardia 9.0 CALM1 CALM2 CALM3
50 sensorineural hearing loss 8.8 COCH GJB2 GJB6 KCNQ4 PCDH15 WFS1

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 tinnitus 32 HP:0000360
2 hearing impairment 32 HP:0000365

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 all 47)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ4 NM_004700.3(KCNQ4): c.853G> A (p.Gly285Ser) single nucleotide variant Likely pathogenic rs28937588 GRCh37 Chromosome 1, 41285565: 41285565
2 KCNQ4 NM_004700.3(KCNQ4): c.853G> A (p.Gly285Ser) single nucleotide variant Likely pathogenic rs28937588 GRCh38 Chromosome 1, 40819893: 40819893
3 KCNQ4 NM_004700.3(KCNQ4): c.827G> C (p.Trp276Ser) single nucleotide variant Pathogenic rs80358277 GRCh37 Chromosome 1, 41285137: 41285137
4 KCNQ4 NM_004700.3(KCNQ4): c.827G> C (p.Trp276Ser) single nucleotide variant Pathogenic rs80358277 GRCh38 Chromosome 1, 40819465: 40819465
5 KCNQ4 NM_004700.3(KCNQ4): c.961G> A (p.Gly321Ser) single nucleotide variant Pathogenic rs28939710 GRCh37 Chromosome 1, 41285852: 41285852
6 KCNQ4 NM_004700.3(KCNQ4): c.961G> A (p.Gly321Ser) single nucleotide variant Pathogenic rs28939710 GRCh38 Chromosome 1, 40820180: 40820180
7 KCNQ4 NM_004700.3(KCNQ4): c.853G> T (p.Gly285Cys) single nucleotide variant Pathogenic rs28937588 GRCh37 Chromosome 1, 41285565: 41285565
8 KCNQ4 NM_004700.3(KCNQ4): c.853G> T (p.Gly285Cys) single nucleotide variant Pathogenic rs28937588 GRCh38 Chromosome 1, 40819893: 40819893
9 KCNQ4 NM_004700.3(KCNQ4): c.211_223delCAGCGCTCCTCGG (p.Gln71Profs) deletion Pathogenic rs80358271 GRCh37 Chromosome 1, 41249976: 41249988
10 KCNQ4 NM_004700.3(KCNQ4): c.211_223delCAGCGCTCCTCGG (p.Gln71Profs) deletion Pathogenic rs80358271 GRCh38 Chromosome 1, 40784304: 40784316
11 KCNQ4 NM_004700.3(KCNQ4): c.842T> C (p.Leu281Ser) single nucleotide variant Pathogenic rs80358278 GRCh37 Chromosome 1, 41285554: 41285554
12 KCNQ4 NM_004700.3(KCNQ4): c.842T> C (p.Leu281Ser) single nucleotide variant Pathogenic rs80358278 GRCh38 Chromosome 1, 40819882: 40819882
13 KCNQ4 NM_004700.3(KCNQ4): c.821T> A (p.Leu274His) single nucleotide variant Pathogenic rs80358276 GRCh37 Chromosome 1, 41285131: 41285131
14 KCNQ4 NM_004700.3(KCNQ4): c.821T> A (p.Leu274His) single nucleotide variant Pathogenic rs80358276 GRCh38 Chromosome 1, 40819459: 40819459
15 KCNQ4 NM_004700.3(KCNQ4): c.211delC (p.Gln71Serfs) deletion Pathogenic rs80358272 GRCh37 Chromosome 1, 41249976: 41249976
16 KCNQ4 NM_004700.3(KCNQ4): c.211delC (p.Gln71Serfs) deletion Pathogenic rs80358272 GRCh38 Chromosome 1, 40784304: 40784304
17 KCNQ4 NM_004700.3(KCNQ4): c.886G> A (p.Gly296Ser) single nucleotide variant Pathogenic rs80358279 GRCh37 Chromosome 1, 41285598: 41285598
18 KCNQ4 NM_004700.3(KCNQ4): c.886G> A (p.Gly296Ser) single nucleotide variant Pathogenic rs80358279 GRCh38 Chromosome 1, 40819926: 40819926
19 KCNQ4 NM_004700.3(KCNQ4): c.546C> G (p.Phe182Leu) single nucleotide variant Pathogenic rs80358273 GRCh37 Chromosome 1, 41284190: 41284190
20 KCNQ4 NM_004700.3(KCNQ4): c.546C> G (p.Phe182Leu) single nucleotide variant Pathogenic rs80358273 GRCh38 Chromosome 1, 40818518: 40818518
21 KCNQ4 NM_004700.3(KCNQ4): c.778G> A (p.Glu260Lys) single nucleotide variant Pathogenic rs80358274 GRCh37 Chromosome 1, 41285088: 41285088
22 KCNQ4 NM_004700.3(KCNQ4): c.778G> A (p.Glu260Lys) single nucleotide variant Pathogenic rs80358274 GRCh38 Chromosome 1, 40819416: 40819416
23 KCNQ4 NM_004700.3(KCNQ4): c.785A> T (p.Asp262Val) single nucleotide variant Pathogenic rs80358275 GRCh37 Chromosome 1, 41285095: 41285095
24 KCNQ4 NM_004700.3(KCNQ4): c.785A> T (p.Asp262Val) single nucleotide variant Pathogenic rs80358275 GRCh38 Chromosome 1, 40819423: 40819423
25 c.667_684del(664_681del) deletion Pathogenic
26 c.725G> A single nucleotide variant Pathogenic
27 c.859G> C single nucleotide variant Pathogenic
28 KCNQ4 NM_004700.3(KCNQ4): c.228_229dupGC (p.His77Argfs) duplication Pathogenic rs748123571 GRCh38 Chromosome 1, 40784321: 40784322
29 KCNQ4 NM_004700.3(KCNQ4): c.228_229dupGC (p.His77Argfs) duplication Pathogenic rs748123571 GRCh37 Chromosome 1, 41249993: 41249994
30 KCNQ4 NM_004700.3(KCNQ4): c.689T> A (p.Val230Glu) single nucleotide variant Pathogenic rs797044965 GRCh38 Chromosome 1, 40818661: 40818661
31 KCNQ4 NM_004700.3(KCNQ4): c.689T> A (p.Val230Glu) single nucleotide variant Pathogenic rs797044965 GRCh37 Chromosome 1, 41284333: 41284333
32 KCNQ4 NM_004700.3(KCNQ4): c.806_808delCCT (p.Ser269del) deletion Likely pathogenic rs797044966 GRCh38 Chromosome 1, 40819444: 40819446
33 KCNQ4 NM_004700.3(KCNQ4): c.806_808delCCT (p.Ser269del) deletion Likely pathogenic rs797044966 GRCh37 Chromosome 1, 41285116: 41285118
34 KCNQ4 NM_004700.3(KCNQ4): c.808T> C (p.Tyr270His) single nucleotide variant Pathogenic rs797044967 GRCh38 Chromosome 1, 40819446: 40819446
35 KCNQ4 NM_004700.3(KCNQ4): c.808T> C (p.Tyr270His) single nucleotide variant Pathogenic rs797044967 GRCh37 Chromosome 1, 41285118: 41285118
36 KCNQ4 NM_004700.3(KCNQ4): c.823T> C (p.Trp275Arg) single nucleotide variant Pathogenic rs797044968 GRCh38 Chromosome 1, 40819461: 40819461
37 KCNQ4 NM_004700.3(KCNQ4): c.823T> C (p.Trp275Arg) single nucleotide variant Pathogenic rs797044968 GRCh37 Chromosome 1, 41285133: 41285133
38 KCNQ4 NM_004700.3(KCNQ4): c.871C> T (p.Pro291Ser) single nucleotide variant Pathogenic rs797044969 GRCh38 Chromosome 1, 40819911: 40819911
39 KCNQ4 NM_004700.3(KCNQ4): c.871C> T (p.Pro291Ser) single nucleotide variant Pathogenic rs797044969 GRCh37 Chromosome 1, 41285583: 41285583
40 KCNQ4 NM_004700.3(KCNQ4): c.872C> T (p.Pro291Leu) single nucleotide variant Pathogenic rs797044970 GRCh38 Chromosome 1, 40819912: 40819912
41 KCNQ4 NM_004700.3(KCNQ4): c.872C> T (p.Pro291Leu) single nucleotide variant Pathogenic rs797044970 GRCh37 Chromosome 1, 41285584: 41285584
42 KCNQ4 NM_004700.3(KCNQ4): c.891G> T (p.Arg297Ser) single nucleotide variant Pathogenic rs797044971 GRCh38 Chromosome 1, 40819931: 40819931
43 KCNQ4 NM_004700.3(KCNQ4): c.891G> T (p.Arg297Ser) single nucleotide variant Pathogenic rs797044971 GRCh37 Chromosome 1, 41285603: 41285603
44 KCNQ4 NM_004700.3(KCNQ4): c.1044_1051delTGCCTGGC (p.Ala349Profs) deletion Pathogenic rs797044972 GRCh38 Chromosome 1, 40822316: 40822323
45 KCNQ4 NM_004700.3(KCNQ4): c.1044_1051delTGCCTGGC (p.Ala349Profs) deletion Pathogenic rs797044972 GRCh37 Chromosome 1, 41287988: 41287995
46 KCNQ4 NM_004700.3(KCNQ4): c.2039C> T (p.Ser680Phe) single nucleotide variant Pathogenic rs772135867 GRCh38 Chromosome 1, 40838474: 40838474
47 KCNQ4 NM_004700.3(KCNQ4): c.2039C> T (p.Ser680Phe) single nucleotide variant Pathogenic rs772135867 GRCh37 Chromosome 1, 41304146: 41304146

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 55)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.94 CALM1 CALM2 CALM3 KCNQ1 KCNQ4
2
Show member pathways
12.94 CALM1 CALM2 CALM3 GJB2 GJB6
3
Show member pathways
12.91 CALM1 CALM2 CALM3 KCNQ1 KCNQ4
4
Show member pathways
12.63 CALM1 CALM2 CALM3 DOCK4
5
Show member pathways
12.29 CALM1 CALM2 CALM3 GJB2 GJB6
6
Show member pathways
12.18 CALM1 CALM2 CALM3
7
Show member pathways
12.16 CALM1 CALM2 CALM3
8
Show member pathways
12.16 CALM1 CALM2 CALM3
9 12.14 CALM1 CALM2 CALM3
10
Show member pathways
12.12 CALM1 CALM2 CALM3
11
Show member pathways
12.12 CALM1 CALM2 CALM3
12
Show member pathways
12.1 CALM1 CALM2 CALM3
13
Show member pathways
12.08 CALM1 CALM2 CALM3
14
Show member pathways
12.08 CALM1 CALM2 CALM3 KCNQ1
15 12.07 CALM1 CALM2 CALM3
16
Show member pathways
12.06 CALM1 CALM2 CALM3
17
Show member pathways
12.04 CALM1 CALM2 CALM3
18 12 CALM1 CALM2 CALM3
19 11.99 CALM1 CALM2 CALM3
20
Show member pathways
11.94 CALM1 CALM2 CALM3
21
Show member pathways
11.91 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 11.45 CALM1 CALM2 CALM3
41 11.28 CALM1 CALM2 CALM3
42 11.27 CALM1 CALM2 CALM3
43 11.24 CALM1 CALM2 CALM3
44 11.21 CALM1 CALM2
45 11.2 CALM1 CALM2 CALM3
46 11.16 CALM1 CALM2 CALM3
47
Show member pathways
11.13 CALM1 CALM2 CALM3 KCNQ1
48 11.12 CALM1 CALM2 CALM3
49 11.1 CALM1 CALM2
50 11.1 CALM1 CALM2 CALM3

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 9.61 CALM1 CALM2 CALM3
2 spindle pole GO:0000922 9.54 CALM1 CALM2 CALM3
3 sarcomere GO:0030017 9.43 CALM1 CALM2 CALM3
4 connexin complex GO:0005922 9.4 GJB2 GJB6
5 spindle microtubule GO:0005876 9.33 CALM1 CALM2 CALM3
6 stereocilium bundle GO:0032421 9.32 DOCK4 PCDH15
7 calcium channel complex GO:0034704 9.13 CALM1 CALM2 CALM3
8 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 22)
# Name GO ID Score Top Affiliating Genes
1 response to calcium ion GO:0051592 9.78 CALM1 CALM2 CALM3
2 positive regulation of protein serine/threonine kinase activity GO:0071902 9.77 CALM1 CALM2 CALM3
3 substantia nigra development GO:0021762 9.77 CALM1 CALM2 CALM3
4 regulation of cytokinesis GO:0032465 9.76 CALM1 CALM2 CALM3
5 regulation of heart rate GO:0002027 9.75 CALM1 CALM2 CALM3
6 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.74 CALM1 CALM2 CALM3
7 positive regulation of protein autophosphorylation GO:0031954 9.73 CALM1 CALM2 CALM3
8 positive regulation of protein dephosphorylation GO:0035307 9.72 CALM1 CALM2 CALM3
9 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.71 CALM1 CALM2 CALM3
10 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.7 CALM1 CALM2 CALM3
11 regulation of cardiac muscle contraction GO:0055117 9.69 CALM1 CALM2 CALM3
12 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.67 CALM1 CALM2 CALM3
13 inner ear development GO:0048839 9.67 GJB2 GJB6 KCNQ1 PCDH15
14 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.65 CALM1 CALM2 CALM3
15 obsolete positive regulation of cAMP biosynthetic process GO:0030819 9.63 CALM1 CALM2 CALM3
16 detection of calcium ion GO:0005513 9.61 CALM1 CALM2 CALM3
17 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.58 CALM1 CALM2 CALM3
18 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.5 CALM1 CALM2 CALM3
19 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.43 CALM1 CALM2 CALM3
20 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.33 CALM1 CALM2 CALM3
21 sensory perception of sound GO:0007605 9.23 COCH GJB2 GJB6 KCNQ1 KCNQ4 PCDH15
22 positive regulation of cyclic nucleotide metabolic process GO:0030801 9.13 CALM1 CALM2 CALM3

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

# Name GO ID Score Top Affiliating Genes
1 serine-type peptidase activity GO:0008236 9.63 IMMP2L TMPRSS3 TMPRSS4
2 ion channel binding GO:0044325 9.62 CALM1 CALM2 CALM3 KCNQ1
3 disordered domain specific binding GO:0097718 9.58 CALM1 CALM2 CALM3
4 protein serine/threonine kinase activator activity GO:0043539 9.54 CALM1 CALM2 CALM3
5 delayed rectifier potassium channel activity GO:0005251 9.48 KCNQ1 KCNQ4
6 calcium channel inhibitor activity GO:0019855 9.43 CALM1 CALM2
7 titin binding GO:0031432 9.43 CALM1 CALM2 CALM3
8 adenylate cyclase binding GO:0008179 9.33 CALM1 CALM2 CALM3
9 protein phosphatase activator activity GO:0072542 9.13 CALM1 CALM2 CALM3
10 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
Content
Loading form....