MCID: DFN190
MIFTS: 38

Deafness, Autosomal Dominant 2a

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

Aliases & Classifications for Deafness, Autosomal Dominant 2a

MalaCards integrated aliases for Deafness, Autosomal Dominant 2a:

Name: Deafness, Autosomal Dominant 2a 54 13 69
Autosomal Dominant Nonsyndromic Deafness 2a 12 14
Dfna2a 12 71
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 2a 71
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 2a 71
Deafness, Autosomal Dominant, 2a 71
Autosomal Dominant Deafness 2a 12

Characteristics:

OMIM:

54
Miscellaneous:
severe hearing loss by age 50 years
progressive disorder
onset between ages 5 and 15 years

Inheritance:
autosomal dominant


HPO:

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


Classifications:



Summaries for Deafness, Autosomal Dominant 2a

UniProtKB/Swiss-Prot : 71 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 autosomal dominant nonsyndromic deafness 2a, is related to autosomal dominant nonsyndromic deafness 20 and cat eye syndrome, and has symptoms including tinnitus and hearing impairment. 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 Transmission across Chemical Synapses and Circadian entrainment. Affiliated tissues include brain, and related phenotype is hearing/vestibular/ear.

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 Recessive 96 Deafness, Autosomal Recessive 36
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 108
Deafness, Autosomal Recessive 32 Deafness, Autosomal Recessive 105
Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 49
Deafness, Autosomal Recessive 45 Deafness, Autosomal Recessive 9
Deafness, Autosomal Dominant 58 Deafness, Autosomal Recessive 70
Deafness, Autosomal Dominant 43 Deafness, Autosomal Recessive 88
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 27
Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 6
Deafness, Autosomal Dominant 70 Deafness, Autosomal Recessive 42
Deafness, Autosomal Dominant 18 Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 6/14/38 Deafness, Autosomal Recessive 25
Deafness, Autosomal Dominant 27 Deafness, Autosomal Recessive 55
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 24
Deafness, Autosomal Recessive 49 Deafness, Autosomal Dominant 1
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 15
Deafness, Autosomal Dominant 52 Deafness, Autosomal Recessive 101
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 21
Deafness, Autosomal Recessive 104 Deafness, Autosomal Recessive 66
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 53
Deafness, Autosomal Dominant 31 Deafness, Autosomal Recessive 67
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 10
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 5
Deafness, Autosomal Recessive 44 Deafness, Autosomal Recessive 39
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 14
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 97
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 13
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 28
Deafness, Autosomal Recessive 83 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 31
Deafness, Autosomal Dominant 56 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 33 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 12 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 18a Deafness Autosomal Recessive 106
Deafness, Autosomal Recessive 18b Deafness, Autosomal Dominant 59
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 63 Deafness, Autosomal Recessive 2
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 8/12
Deafness, Autosomal Recessive 21 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 20 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 102 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 74 Deafness, Autosomal Recessive 84a
Deafness, Autosomal Dominant 73 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Dominant 25 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 41 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 3b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Dominant 33
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 9 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 35 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 71 Deafness, Autosomal Recessive 48
Deafness, Autosomal Dominant 68 Deafness, Autosomal Dominant 30
Deafness , Autosomal Recessive 86 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 3 Deafness, Autosomal Recessive 107
Deafness, Autosomal Dominant 20/26 Deafness, Autosomal Recessive 46
Deafness, Autosomal Recessive 77 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 76
Deafness, Autosomal Dominant 4b Deafness, Autosomal Dominant 4a
Deafness, Autosomal Dominant 67 Deafness, Autosomal Recessive 65
Deafness, Autosomal Recessive 29 Deafness, Autosomal Recessive 8/10
Deafness, Autosomal Recessive 98 Deafness, Autosomal Dominant 17
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 28
Nonsyndromic Deafness Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 47 Autosomal Recessive Nonsyndromic Deafness 8
Autosomal Dominant Nonsyndromic Deafness 12 Autosomal Dominant Nonsyndromic Deafness 20
Autosomal Dominant Nonsyndromic Deafness 6 Autosomal Dominant Nonsyndromic Deafness 69
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 57)
id Related Disease Score Top Affiliating Genes
1 autosomal dominant nonsyndromic deafness 20 10.6 TMPRSS3 TMPRSS4
2 cat eye syndrome 10.6 TMPRSS3 TMPRSS4
3 deafness, autosomal recessive 23 10.5 COCH PCDH15
4 atrial fibrillation, familial, 14 10.4 TMPRSS3 TMPRSS4
5 bifid nose with or without anorectal and renal anomalies 10.4 TMPRSS3 TMPRSS4
6 ectodermal dysplasia 6, hair/nail type 10.3 TMPRSS3 TMPRSS4
7 myocardial infarction 2 10.3 GJB2 GJB6
8 myopia 22, autosomal dominant 10.3 GJB2 GJB6
9 deafness, autosomal dominant 3a 10.3 GJB2 GJB6
10 hyperphenylalaninemia, mild, non-bh4-deficient 10.3 GJB2 PCDH15
11 kikuchi disease 10.2 GJB2 GJB6
12 pseudocholinesterase deficiency 10.2 GJB2 GJB6
13 congenital disorder of glycosylation with developmental anomaly 10.2 GJB2 GJB6
14 fascioliasis 10.2 GJB2 GJB6
15 troyer syndrome 10.2 GJB2 GJB6
16 epilepsy, idiopathic generalized 5 10.2 GJB2 PCDH15
17 birk-landau-perez syndrome 10.2 TMPRSS3 TMPRSS4
18 keratoderma, palmoplantar, with deafness 10.2 GJB2 GJB6
19 diabetes persistent mullerian ducts 10.0 GJB2 GJB6 PCDH15
20 pituitary adenoma 10.0 GJB2 PCDH15 WFS1
21 viral laryngitis 10.0 COCH GJB2 GJB6
22 x-linked nonsyndromic deafness 9.8 COCH WFS1
23 discrete papular lichen myxedematosus 9.8 GJB2 GJB6 PCDH15 TMPRSS3
24 dihydrolipoamide dehydrogenase deficiency 9.6 COCH GJB2 GJB6 WFS1
25 encephalomalacia 9.6 CALM1 CALM3
26 vascular erectile tumor 9.6 CALM1 KCNQ1
27 nonsyndromic hydrocephalus, ccdc88c-related 9.5 COCH GJB2 GJB6 KCNQ4 TMPRSS3
28 congenital muscular dystrophy due to lmna mutation 9.5 COCH GJB2 TMPRSS3 TMPRSS4 WFS1
29 deafness, autosomal recessive 53 9.5 COCH GJB2 TMPRSS3 TMPRSS4 WFS1
30 nodular lichen myxedematosus 9.4 COCH GJB2 GJB6 KCNQ4 WFS1
31 mixed lacrimal gland cancer 9.4 COCH GJB2 GJB6 KCNQ4 WFS1
32 endometritis 9.4 COCH GJB2 GJB6 KCNQ4 WFS1
33 subclavian steal syndrome 9.3 CALM1 CALM2 CALM3
34 long qt syndrome 15 9.3 CALM1 CALM2 CALM3
35 epidural spinal canal meningioma 9.3 CALM1 CALM2 CALM3
36 heterotaxy, visceral, 8, autosomal 9.3 CALM1 CALM2 CALM3
37 pseudohypoaldosteronism, type iic 9.3 CALM1 CALM2 CALM3
38 mononeuritis of lower limb 9.3 CALM1 CALM2 CALM3
39 pontiac fever 9.3 CALM1 CALM2 CALM3
40 regular astigmatism 9.3 CALM1 CALM2 CALM3
41 dumping syndrome 9.3 CALM1 CALM2 CALM3
42 bulimia nervosa, age of onset of weight loss in 9.3 CALM1 CALM2 CALM3
43 leber congenital amaurosis 2 9.3 CALM1 CALM2 CALM3
44 alkhurma hemorrhagic fever 9.3 CALM1 CALM2 CALM3
45 cardiomyopathy, dilated, 1a 9.3 CALM1 CALM2 CALM3
46 cardiomyopathy, hypertrophic, 18 9.3 CALM1 CALM2 CALM3
47 partial of retinal vein occlusion 9.3 CALM1 CALM2 CALM3
48 plantar fasciitis 9.3 CALM1 CALM2 CALM3
49 lymphocytic choriomeningitis 9.3 CALM1 CALM2 CALM3
50 hypochromic microcytic anemia 9.2 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:

54

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


Clinical features from OMIM:

600101

Human phenotypes related to Deafness, Autosomal Dominant 2a:

32
id 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.17 GJB2 GJB6 KCNQ1 KCNQ4 PCDH15 TMPRSS3

Drugs & Therapeutics for Deafness, Autosomal Dominant 2a

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search 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:

39
Brain

Publications for Deafness, Autosomal Dominant 2a

Variations for Deafness, Autosomal Dominant 2a

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

71
id 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 25)
id Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ4 NM_004700.3(KCNQ4): c.853G> A (p.Gly285Ser) single nucleotide variant Pathogenic/Likely pathogenic rs28937588 GRCh37 Chromosome 1, 41285565: 41285565
2 KCNQ4 NM_004700.3(KCNQ4): c.827G> C (p.Trp276Ser) single nucleotide variant Pathogenic rs80358277 GRCh37 Chromosome 1, 41285137: 41285137
3 KCNQ4 NM_004700.3(KCNQ4): c.961G> A (p.Gly321Ser) single nucleotide variant Pathogenic rs28939710 GRCh37 Chromosome 1, 41285852: 41285852
4 KCNQ4 NM_004700.3(KCNQ4): c.853G> T (p.Gly285Cys) single nucleotide variant Pathogenic rs28937588 GRCh37 Chromosome 1, 41285565: 41285565
5 KCNQ4 NM_004700.3(KCNQ4): c.211_223delCAGCGCTCCTCGG (p.Gln71Profs) deletion Pathogenic rs80358271 GRCh37 Chromosome 1, 41249976: 41249988
6 KCNQ4 NM_004700.3(KCNQ4): c.842T> C (p.Leu281Ser) single nucleotide variant Pathogenic rs80358278 GRCh37 Chromosome 1, 41285554: 41285554
7 KCNQ4 NM_004700.3(KCNQ4): c.821T> A (p.Leu274His) single nucleotide variant Pathogenic rs80358276 GRCh37 Chromosome 1, 41285131: 41285131
8 KCNQ4 NM_004700.3(KCNQ4): c.211delC (p.Gln71Serfs) deletion Pathogenic rs80358272 GRCh37 Chromosome 1, 41249976: 41249976
9 KCNQ4 NM_004700.3(KCNQ4): c.886G> A (p.Gly296Ser) single nucleotide variant Pathogenic rs80358279 GRCh37 Chromosome 1, 41285598: 41285598
10 KCNQ4 NM_004700.3(KCNQ4): c.546C> G (p.Phe182Leu) single nucleotide variant Pathogenic rs80358273 GRCh37 Chromosome 1, 41284190: 41284190
11 KCNQ4 NM_004700.3(KCNQ4): c.778G> A (p.Glu260Lys) single nucleotide variant Pathogenic rs80358274 GRCh37 Chromosome 1, 41285088: 41285088
12 KCNQ4 NM_004700.3(KCNQ4): c.785A> T (p.Asp262Val) single nucleotide variant Pathogenic rs80358275 GRCh37 Chromosome 1, 41285095: 41285095
13 c.667_684del(664_681del) deletion Pathogenic
14 c.725G> A single nucleotide variant Pathogenic
15 c.859G> C single nucleotide variant Pathogenic
16 KCNQ4 NM_004700.3(KCNQ4): c.228_229dupGC (p.His77Argfs) duplication Pathogenic rs748123571 GRCh38 Chromosome 1, 40784321: 40784322
17 KCNQ4 NM_004700.3(KCNQ4): c.689T> A (p.Val230Glu) single nucleotide variant Pathogenic rs797044965 GRCh38 Chromosome 1, 40818661: 40818661
18 KCNQ4 NM_004700.3(KCNQ4): c.806_808delCCT (p.Ser269del) deletion Pathogenic/Likely pathogenic rs797044966 GRCh38 Chromosome 1, 40819444: 40819446
19 KCNQ4 NM_004700.3(KCNQ4): c.808T> C (p.Tyr270His) single nucleotide variant Pathogenic rs797044967 GRCh38 Chromosome 1, 40819446: 40819446
20 KCNQ4 NM_004700.3(KCNQ4): c.823T> C (p.Trp275Arg) single nucleotide variant Pathogenic rs797044968 GRCh38 Chromosome 1, 40819461: 40819461
21 KCNQ4 NM_004700.3(KCNQ4): c.871C> T (p.Pro291Ser) single nucleotide variant Pathogenic rs797044969 GRCh38 Chromosome 1, 40819911: 40819911
22 KCNQ4 NM_004700.3(KCNQ4): c.872C> T (p.Pro291Leu) single nucleotide variant Pathogenic rs797044970 GRCh38 Chromosome 1, 40819912: 40819912
23 KCNQ4 NM_004700.3(KCNQ4): c.891G> T (p.Arg297Ser) single nucleotide variant Pathogenic rs797044971 GRCh38 Chromosome 1, 40819931: 40819931
24 KCNQ4 NM_004700.3(KCNQ4): c.1044_1051delTGCCTGGC (p.Ala349Profs) deletion Pathogenic rs797044972 GRCh38 Chromosome 1, 40822316: 40822323
25 KCNQ4 NM_004700.3(KCNQ4): c.2039C> T (p.Ser680Phe) single nucleotide variant Pathogenic rs772135867 GRCh38 Chromosome 1, 40838474: 40838474

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 all 49)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.92 CALM1 CALM2 CALM3 KCNQ1 KCNQ4
2
Show member pathways
12.65 CALM1 CALM2 CALM3 KCNQ1 KCNQ4
3
Show member pathways
12.64 CALM1 CALM2 CALM3 DOCK4
4
Show member pathways
12.37 CALM1 CALM2 CALM3 GJB2 GJB6
5
Show member pathways
12.17 CALM1 CALM2 CALM3
6
Show member pathways
12.12 CALM1 CALM2 CALM3
7
Show member pathways
12.11 CALM1 CALM2 CALM3
8
Show member pathways
12.09 CALM1 CALM2 CALM3 KCNQ1
9
Show member pathways
12.08 CALM1 CALM2 CALM3
10
Show member pathways
12.06 CALM1 CALM2 CALM3
11 12.01 CALM1 CALM2 CALM3
12 12 CALM1 CALM2 CALM3
13
Show member pathways
11.94 CALM1 CALM2 CALM3
14
Show member pathways
11.92 CALM1 CALM2 CALM3
15 11.91 CALM1 CALM2 CALM3 KCNQ1 KCNQ4
16
Show member pathways
11.9 CALM1 CALM2 CALM3
17
Show member pathways
11.86 CALM1 CALM2 CALM3
18 11.85 CALM1 CALM2 CALM3
19 11.84 CALM1 CALM2 CALM3
20
Show member pathways
11.81 CALM1 CALM2 CALM3
21
Show member pathways
11.79 CALM1 CALM2 CALM3
22
Show member pathways
11.78 CALM1 CALM2 CALM3
23
Show member pathways
11.75 CALM1 CALM2 CALM3
24
Show member pathways
11.71 CALM1 CALM2 CALM3
25
Show member pathways
11.7 CALM1 CALM2 CALM3
26
Show member pathways
11.68 CALM1 CALM2 CALM3
27 11.68 CALM1 CALM2 CALM3
28 11.66 CALM1 CALM2 CALM3
29
Show member pathways
11.61 CALM1 CALM2 CALM3
30 11.59 CALM1 CALM2 CALM3
31 11.57 CALM1 CALM2 CALM3
32
Show member pathways
11.55 CALM1 CALM2 CALM3
33 11.48 CALM1 CALM2 CALM3
34 11.46 CALM1 CALM2 CALM3
35 11.28 CALM1 CALM2 CALM3
36 11.27 CALM1 CALM2 CALM3
37 11.24 CALM1 CALM2 CALM3
38 11.21 CALM1 CALM2 CALM3
39 11.2 CALM1 CALM2 CALM3
40 11.16 CALM1 CALM2 CALM3
41
Show member pathways
11.13 CALM1 CALM2 CALM3 KCNQ1
42 11.1 CALM1 CALM2 CALM3
43 11.09 CALM1 CALM2
44 11.07 CALM1 CALM2 CALM3
45 11.04 CALM1 CALM2 CALM3
46 10.89 CALM1 CALM2 CALM3
47 10.78 CALM1 CALM2 CALM3
48 10.71 CALM1 CALM2 CALM3
49 9.91 CALM1 CALM2 CALM3

GO Terms for Deafness, Autosomal Dominant 2a

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

id Name GO ID Score Top Affiliating Genes
1 spindle pole GO:0000922 9.5 CALM1 CALM2 CALM3
2 connexin complex GO:0005922 9.37 GJB2 GJB6
3 sarcomere GO:0030017 9.33 CALM1 CALM2 CALM3
4 stereocilium bundle GO:0032421 9.26 DOCK4 PCDH15
5 calcium channel complex GO:0034704 9.13 CALM1 CALM2 CALM3
6 voltage-gated potassium channel complex GO:0008076 8.62 KCNQ1 KCNQ4

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

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of protein serine/threonine kinase activity GO:0071902 9.76 CALM1 CALM2 CALM3
2 regulation of heart rate GO:0002027 9.75 CALM1 CALM2 CALM3
3 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.74 CALM1 CALM2 CALM3
4 positive regulation of protein dephosphorylation GO:0035307 9.73 CALM1 CALM2 CALM3
5 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.72 CALM1 CALM2 CALM3
6 positive regulation of protein autophosphorylation GO:0031954 9.71 CALM1 CALM2 CALM3
7 response to calcium ion GO:0051592 9.71 CALM1 CALM2 CALM3 PCDH15
8 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.7 CALM1 CALM2 CALM3
9 regulation of cardiac muscle contraction GO:0055117 9.69 CALM1 CALM2 CALM3
10 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.67 CALM1 CALM2 CALM3
11 inner ear development GO:0048839 9.67 GJB2 GJB6 KCNQ1 PCDH15
12 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.65 CALM1 CALM2 CALM3
13 detection of calcium ion GO:0005513 9.63 CALM1 CALM2 CALM3
14 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.61 CALM1 CALM2 CALM3
15 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.5 CALM1 CALM2 CALM3
16 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.43 CALM1 CALM2 CALM3
17 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.33 CALM1 CALM2 CALM3
18 sensory perception of sound GO:0007605 9.23 COCH GJB2 GJB6 KCNQ1 KCNQ4 PCDH15
19 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:

id Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.56 CALM1 CALM2 CALM3 KCNQ1
2 serine-type peptidase activity GO:0008236 9.5 IMMP2L TMPRSS3 TMPRSS4
3 protein serine/threonine kinase activator activity GO:0043539 9.33 CALM1 CALM2 CALM3
4 titin binding GO:0031432 9.13 CALM1 CALM2 CALM3
5 protein phosphatase activator activity GO:0072542 8.8 CALM1 CALM2 CALM3

Sources for Deafness, Autosomal Dominant 2a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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