DFNA20
MCID: DFN354
MIFTS: 41

Deafness, Autosomal Dominant 20 (DFNA20)

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

Aliases & Classifications for Deafness, Autosomal Dominant 20

MalaCards integrated aliases for Deafness, Autosomal Dominant 20:

Name: Deafness, Autosomal Dominant 20 57 29 6 73
Dfna20 57 12 75
Dfna26 57 12 75
Autosomal Dominant Nonsyndromic Deafness 20 12 15
Deafness, Autosomal Dominant 20/26 57 13
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 20 75
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 20 75
Deafness, Autosomal Dominant, Type 20/26 40
Deafness, Autosomal Dominant, 20 75
Autosomal Dominant Deafness 20 12
Deafness Autosomal Dominant 26 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable rate of progression
onset in first or second decades


HPO:

32
deafness, autosomal dominant 20:
Onset and clinical course young adult onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 604717
Disease Ontology 12 DOID:0110550
ICD10 33 H90.3
MedGen 42 C1858172
MeSH 44 D006319
SNOMED-CT via HPO 69 263681008 194424005
UMLS 73 C1858172

Summaries for Deafness, Autosomal Dominant 20

UniProtKB/Swiss-Prot : 75 Deafness, autosomal dominant, 20: 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 20, also known as dfna20, is related to baraitser-winter syndrome 2 and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. An important gene associated with Deafness, Autosomal Dominant 20 is ACTG1 (Actin Gamma 1), and among its related pathways/superpathways are Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases and Cytoskeletal Signaling. Affiliated tissues include brain, and related phenotypes are progressive sensorineural hearing impairment and bilateral sensorineural hearing impairment

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has material basis in mutation in the ACTG1 gene on chromosome 17q25.

Description from OMIM: 604717

Related Diseases for Deafness, Autosomal Dominant 20

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 20 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 baraitser-winter syndrome 2 10.2 ACTG1 FSCN2
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
3 deafness, autosomal dominant 21 10.2 GSDME MYH14
4 congenital chloride diarrhea 10.2 SLC26A2 SLC26A3
5 achondrogenesis, type ib 10.1 SLC26A2 SLC26A3
6 autosomal dominant nonsyndromic deafness 10.1 ACTG1 GSDME MYH14
7 deafness, autosomal dominant 17 10.1 GSDME MYH14
8 usher syndrome, type if 10.1 USH1C USH1G
9 diastrophic dysplasia 10.1 SLC26A2 SLC26A3 SLC26A8
10 pendred syndrome 10.1 SLC26A2 SLC26A3 SLC26A8
11 usher syndrome, type id 10.1 USH1C USH1G
12 deafness, autosomal dominant 6 10.0
13 sensorineural hearing loss 10.0
14 deafness, autosomal recessive 30 10.0 ESPN MYH14
15 autosomal recessive non-syndromic sensorineural deafness type dfnb 10.0 ESPN USH1C USH1G
16 usher syndrome, type i 9.9 ACTG1 ESPN USH1C USH1G
17 usher syndrome, type iid 9.9 USH1C USH1G
18 nonsyndromic deafness 9.7 ACTG1 ESPN GSDME MYH14 USH1C USH1G

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



Diseases related to Deafness, Autosomal Dominant 20

Symptoms & Phenotypes for Deafness, Autosomal Dominant 20

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, sensorineural, bilateral, progressive
hearing loss begins with loss of high frequencies
audiogram shows sloping configuration
deafness, profound, by 6th decade


Clinical features from OMIM:

604717

Human phenotypes related to Deafness, Autosomal Dominant 20:

32
# Description HPO Frequency HPO Source Accession
1 progressive sensorineural hearing impairment 32 HP:0000408
2 bilateral sensorineural hearing impairment 32 HP:0008619

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 20:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.81 ACTG1 ARHGDIA CFL1 ESPN FOXJ1 GRIN2C
2 hearing/vestibular/ear MP:0005377 9.43 ACTG1 ESPN FSCN2 GSDME USH1C USH1G
3 nervous system MP:0003631 9.36 ACTG1 CFL1 ESPN FOXJ1 FSCN2 GRIN2C

Drugs & Therapeutics for Deafness, Autosomal Dominant 20

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 20

Genetic Tests for Deafness, Autosomal Dominant 20

Genetic tests related to Deafness, Autosomal Dominant 20:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 20 29 ACTG1

Anatomical Context for Deafness, Autosomal Dominant 20

MalaCards organs/tissues related to Deafness, Autosomal Dominant 20:

41
Brain

Publications for Deafness, Autosomal Dominant 20

Articles related to Deafness, Autosomal Dominant 20:

# Title Authors Year
1
Two Deafness-Causing Actin Mutations (DFNA20/26) Have Allosteric Effects on the Actin Structure. ( 27463135 )
2016
2
Two deafness-causing (DFNA20/26) actin mutations affect Arp2/3-dependent actin regulation. ( 22718764 )
2012
3
Allele-specific effects of human deafness gamma-actin mutations (DFNA20/26) on the actin/cofilin interaction. ( 19419963 )
2009
4
A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment. ( 15023833 )
2004
5
Clinical presentation of the DFNA loci where causative genes have not yet been cloned. DFNA4, DFNA6/14, DFNA7, DFNA16, DFNA20 and DFNA21. ( 12408070 )
2002
6
Audiologic aspects of the search for DFNA20: a gene causing late-onset, progressive, sensorineural hearing loss. ( 11527035 )
2001

Variations for Deafness, Autosomal Dominant 20

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 20:

75
# Symbol AA change Variation ID SNP ID
1 ACTG1 p.Thr89Ile VAR_032434 rs28999111
2 ACTG1 p.Lys118Met VAR_032435 rs104894544
3 ACTG1 p.Pro264Leu VAR_032436 rs104894546
4 ACTG1 p.Thr278Ile VAR_032437 rs28999112
5 ACTG1 p.Pro332Ala VAR_032438 rs104894545
6 ACTG1 p.Val370Ala VAR_032439 rs104894547
7 ACTG1 p.Lys118Asn VAR_067824 rs267606630
8 ACTG1 p.Ile122Val VAR_067825 rs281875330
9 ACTG1 p.Glu241Lys VAR_067826 rs267606631
10 ACTG1 p.Asp187His VAR_079878

ClinVar genetic disease variations for Deafness, Autosomal Dominant 20:

6 (show all 38)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACTG1 NM_001614.3(ACTG1): c.266C> T (p.Thr89Ile) single nucleotide variant Pathogenic rs28999111 GRCh37 Chromosome 17, 79479026: 79479026
2 ACTG1 NM_001614.3(ACTG1): c.266C> T (p.Thr89Ile) single nucleotide variant Pathogenic rs28999111 GRCh38 Chromosome 17, 81512000: 81512000
3 ACTG1 NM_001614.3(ACTG1): c.353A> T (p.Lys118Met) single nucleotide variant Likely pathogenic rs104894544 GRCh37 Chromosome 17, 79478939: 79478939
4 ACTG1 NM_001614.3(ACTG1): c.353A> T (p.Lys118Met) single nucleotide variant Likely pathogenic rs104894544 GRCh38 Chromosome 17, 81511913: 81511913
5 ACTG1 NM_001614.3(ACTG1): c.994C> G (p.Pro332Ala) single nucleotide variant Pathogenic rs104894545 GRCh37 Chromosome 17, 79477850: 79477850
6 ACTG1 NM_001614.3(ACTG1): c.994C> G (p.Pro332Ala) single nucleotide variant Pathogenic rs104894545 GRCh38 Chromosome 17, 81510824: 81510824
7 ACTG1 NM_001614.3(ACTG1): c.791C> T (p.Pro264Leu) single nucleotide variant Pathogenic rs104894546 GRCh37 Chromosome 17, 79478225: 79478225
8 ACTG1 NM_001614.3(ACTG1): c.791C> T (p.Pro264Leu) single nucleotide variant Pathogenic rs104894546 GRCh38 Chromosome 17, 81511199: 81511199
9 ACTG1 NM_001614.3(ACTG1): c.833C> T (p.Thr278Ile) single nucleotide variant Pathogenic rs28999112 GRCh37 Chromosome 17, 79478104: 79478104
10 ACTG1 NM_001614.3(ACTG1): c.833C> T (p.Thr278Ile) single nucleotide variant Pathogenic rs28999112 GRCh38 Chromosome 17, 81511078: 81511078
11 ACTG1 NM_001614.3(ACTG1): c.1109T> C (p.Val370Ala) single nucleotide variant Pathogenic rs104894547 GRCh37 Chromosome 17, 79477735: 79477735
12 ACTG1 NM_001614.3(ACTG1): c.1109T> C (p.Val370Ala) single nucleotide variant Pathogenic rs104894547 GRCh38 Chromosome 17, 81510709: 81510709
13 ACTG1 NM_001614.3(ACTG1): c.354G> C (p.Lys118Asn) single nucleotide variant Pathogenic rs267606630 GRCh37 Chromosome 17, 79478938: 79478938
14 ACTG1 NM_001614.3(ACTG1): c.354G> C (p.Lys118Asn) single nucleotide variant Pathogenic rs267606630 GRCh38 Chromosome 17, 81511912: 81511912
15 ACTG1 NM_001614.4(ACTG1): c.721G> A (p.Glu241Lys) single nucleotide variant Likely pathogenic rs267606631 GRCh37 Chromosome 17, 79478295: 79478295
16 ACTG1 NM_001614.4(ACTG1): c.721G> A (p.Glu241Lys) single nucleotide variant Likely pathogenic rs267606631 GRCh38 Chromosome 17, 81511269: 81511269
17 ACTG1 NM_001614.4(ACTG1): c.471C> T (p.Asp157=) single nucleotide variant Benign rs11549222 GRCh37 Chromosome 17, 79478545: 79478545
18 ACTG1 NM_001614.4(ACTG1): c.471C> T (p.Asp157=) single nucleotide variant Benign rs11549222 GRCh38 Chromosome 17, 81511519: 81511519
19 ACTG1 NM_001614.4(ACTG1): c.521C> G (p.Ala174Gly) single nucleotide variant Uncertain significance rs727504862 GRCh38 Chromosome 17, 81511469: 81511469
20 ACTG1 NM_001614.4(ACTG1): c.521C> G (p.Ala174Gly) single nucleotide variant Uncertain significance rs727504862 GRCh37 Chromosome 17, 79478495: 79478495
21 ACTG1 NM_001614.4(ACTG1): c.364-8C> T single nucleotide variant Likely benign rs201748657 GRCh37 Chromosome 17, 79478660: 79478660
22 ACTG1 NM_001614.4(ACTG1): c.364-8C> T single nucleotide variant Likely benign rs201748657 GRCh38 Chromosome 17, 81511634: 81511634
23 ACTG1 NM_001614.3(ACTG1): c.714G> A (p.Lys238=) single nucleotide variant Benign/Likely benign rs11549173 GRCh38 Chromosome 17, 81511276: 81511276
24 ACTG1 NM_001614.3(ACTG1): c.714G> A (p.Lys238=) single nucleotide variant Benign/Likely benign rs11549173 GRCh37 Chromosome 17, 79478302: 79478302
25 ACTG1 NM_001614.3(ACTG1): c.985-5T> C single nucleotide variant Benign/Likely benign rs370546734 GRCh37 Chromosome 17, 79477864: 79477864
26 ACTG1 NM_001614.3(ACTG1): c.985-5T> C single nucleotide variant Benign/Likely benign rs370546734 GRCh38 Chromosome 17, 81510838: 81510838
27 ACTG1 NM_001614.3(ACTG1): c.39C> T (p.Gly13=) single nucleotide variant Benign/Likely benign rs146865914 GRCh37 Chromosome 17, 79479342: 79479342
28 ACTG1 NM_001614.3(ACTG1): c.39C> T (p.Gly13=) single nucleotide variant Benign/Likely benign rs146865914 GRCh38 Chromosome 17, 81512316: 81512316
29 ACTG1 NM_001614.4(ACTG1): c.985-5dup duplication Likely benign rs782289893 GRCh38 Chromosome 17, 81510838: 81510838
30 ACTG1 NM_001614.4(ACTG1): c.985-5dup duplication Likely benign rs782289893 GRCh37 Chromosome 17, 79477866: 79477866
31 ACTG1 NM_001614.3(ACTG1): c.457A> G (p.Met153Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 81511533: 81511533
32 ACTG1 NM_001614.3(ACTG1): c.457A> G (p.Met153Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 79478559: 79478559
33 ACTG1 NM_001614.4(ACTG1): c.803-4C> T single nucleotide variant Likely benign rs782608976 GRCh38 Chromosome 17, 81511112: 81511112
34 ACTG1 NM_001614.4(ACTG1): c.803-4C> T single nucleotide variant Likely benign rs782608976 GRCh37 Chromosome 17, 79478138: 79478138
35 ACTG1 NM_001614.4(ACTG1): c.802+10G> A single nucleotide variant Likely benign GRCh37 Chromosome 17, 79478204: 79478204
36 ACTG1 NM_001614.4(ACTG1): c.802+10G> A single nucleotide variant Likely benign GRCh38 Chromosome 17, 81511178: 81511178
37 ACTG1 NM_001614.4(ACTG1): c.1103C> T (p.Ser368Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 79477741: 79477741
38 ACTG1 NM_001614.4(ACTG1): c.1103C> T (p.Ser368Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 81510715: 81510715

Expression for Deafness, Autosomal Dominant 20

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 20.

Pathways for Deafness, Autosomal Dominant 20

GO Terms for Deafness, Autosomal Dominant 20

Cellular components related to Deafness, Autosomal Dominant 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.87 ACTG1 ARHGDIA CFL1 ESPN FSCN2 USH1C
2 plasma membrane GO:0005886 9.77 ACTG1 CFL1 GRIN2C GSDME P4HB SELL
3 filamentous actin GO:0031941 9.43 ACTG1 ESPN
4 brush border GO:0005903 9.43 ESPN MYH14 USH1C
5 stereocilium tip GO:0032426 9.4 ESPN USH1C
6 stereocilium GO:0032420 9.33 ESPN FSCN2 USH1C
7 actin cytoskeleton GO:0015629 9.02 ACTG1 CFL1 ESPN FSCN2 USH1G
8 membrane GO:0016020 10.21 ACTG1 ARHGDIA CFL1 GRIN2C GSDME MYH14

Biological processes related to Deafness, Autosomal Dominant 20 according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.97 SLC26A1 SLC26A11 SLC26A2 SLC26A3 SLC26A8
2 ion transport GO:0006811 9.97 GRIN2C SLC26A1 SLC26A11 SLC26A2 SLC26A3 SLC26A8
3 sensory perception of sound GO:0007605 9.8 ESPN GSDME MYH14 USH1C USH1G
4 actin cytoskeleton organization GO:0030036 9.77 CFL1 FOXJ1 FSCN2
5 chloride transmembrane transport GO:1902476 9.73 SLC26A1 SLC26A2 SLC26A3 SLC26A8
6 chloride transport GO:0006821 9.72 SLC26A1 SLC26A3 SLC26A8
7 regulation of membrane potential GO:0042391 9.72 GRIN2C SLC26A1 SLC26A2 SLC26A3 SLC26A8
8 bicarbonate transport GO:0015701 9.67 SLC26A1 SLC26A2 SLC26A3 SLC26A8
9 actin filament bundle assembly GO:0051017 9.65 ESPN FSCN2 USH1C
10 sperm capacitation GO:0048240 9.59 SLC26A3 SLC26A8
11 anion transport GO:0006820 9.58 SLC26A3 SLC26A8
12 inner ear receptor cell stereocilium organization GO:0060122 9.58 USH1C USH1G
13 sensory perception of light stimulus GO:0050953 9.56 USH1C USH1G
14 anion transmembrane transport GO:0098656 9.56 SLC26A1 SLC26A11 SLC26A3 SLC26A8
15 inner ear receptor cell differentiation GO:0060113 9.54 GSDME USH1G
16 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process GO:0050428 9.52 SLC26A1 SLC26A2
17 equilibrioception GO:0050957 9.51 USH1C USH1G
18 parallel actin filament bundle assembly GO:0030046 9.46 ESPN USH1C
19 oxalate transport GO:0019532 9.46 SLC26A1 SLC26A2 SLC26A3 SLC26A8
20 sulfate transport GO:0008272 9.35 SLC26A1 SLC26A11 SLC26A2 SLC26A3 SLC26A8
21 sulfate transmembrane transport GO:1902358 9.02 SLC26A1 SLC26A11 SLC26A2 SLC26A3 SLC26A8

Molecular functions related to Deafness, Autosomal Dominant 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.8 CFL1 ESPN FSCN2 MYH14 USH1C
2 bicarbonate transmembrane transporter activity GO:0015106 9.67 SLC26A1 SLC26A2 SLC26A3 SLC26A8
3 chloride transmembrane transporter activity GO:0015108 9.62 SLC26A1 SLC26A2 SLC26A3 SLC26A8
4 oxalate transmembrane transporter activity GO:0019531 9.56 SLC26A1 SLC26A2 SLC26A3 SLC26A8
5 anion:anion antiporter activity GO:0015301 9.55 SLC26A1 SLC26A11 SLC26A2 SLC26A3 SLC26A8
6 spectrin binding GO:0030507 9.46 USH1C USH1G
7 anion transmembrane transporter activity GO:0008509 9.43 SLC26A11 SLC26A8
8 sulfate transmembrane transporter activity GO:0015116 9.35 SLC26A1 SLC26A11 SLC26A2 SLC26A3 SLC26A8
9 secondary active sulfate transmembrane transporter activity GO:0008271 9.02 SLC26A1 SLC26A11 SLC26A2 SLC26A3 SLC26A8

Sources for Deafness, Autosomal Dominant 20

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....