DFNA20
MCID: DFN354
MIFTS: 42

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 72
Dfna20 57 12 74
Dfna26 57 12 74
Autosomal Dominant Nonsyndromic Deafness 20 12 15
Deafness, Autosomal Dominant 20/26 57 13
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 20 74
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 20 74
Deafness, Autosomal Dominant, Type 20/26 40
Deafness, Autosomal Dominant, 20 74
Autosomal Dominant Deafness 20 12
Deafness Autosomal Dominant 26 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110550
MeSH 44 D006319
ICD10 33 H90.3
MedGen 42 C1858172
UMLS 72 C1858172

Summaries for Deafness, Autosomal Dominant 20

UniProtKB/Swiss-Prot : 74 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 deafness, autosomal dominant 21 and baraitser-winter syndrome 2. 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 endothelial, 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.

More information from OMIM: 604717 PS124900

Related Diseases for Deafness, Autosomal Dominant 20

Diseases in the Rare Deafness family:

Deafness, Autosomal Dominant 1 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Recessive 2 Deafness, Autosomal Dominant 2a
Deafness, Autosomal Recessive 3 Deafness, Autosomal Dominant 4a
Deafness, Autosomal Recessive 5 Deafness, Autosomal Dominant 6
Deafness, Autosomal Recessive 6 Deafness, Autosomal Recessive 7
Deafness, Autosomal Dominant 5 Deafness, Autosomal Recessive 9
Deafness, Autosomal Recessive 8 Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 9
Deafness, Autosomal Recessive 12 Deafness, Autosomal Dominant 7
Deafness, Autosomal Dominant 12 Deafness, Autosomal Dominant 3a
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 18a Deafness, Autosomal Dominant 15
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 13
Deafness, Autosomal Dominant 17 Deafness, Autosomal Recessive 21
Deafness, Autosomal Recessive 14 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 20
Deafness, Autosomal Dominant 20 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 25
Deafness, Autosomal Recessive 27 Deafness, Autosomal Dominant 18
Deafness, Autosomal Dominant 24 Deafness, Autosomal Dominant 22
Deafness, Autosomal Dominant 30 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 21 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 31 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive Deafness, Autosomal Recessive 33
Deafness, Autosomal Dominant 44 Deafness, Autosomal Dominant 52
Deafness, Autosomal Recessive 37 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 41
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 39
Deafness, Autosomal Dominant 49 Deafness, Autosomal Dominant 43
Deafness, Autosomal Recessive 35 Deafness, Autosomal Dominant 28
Deafness, Autosomal Dominant 31 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 48 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 42 Deafness, Autosomal Recessive 46
Deafness, Autosomal Recessive 53 Deafness, Autosomal Recessive 28
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 47
Deafness, Autosomal Recessive 55 Deafness, Autosomal Dominant 53
Deafness, Autosomal Recessive 62 Deafness, Autosomal Recessive 49
Deafness, Autosomal Recessive 44 Deafness, Autosomal Recessive 66
Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 65
Deafness, Autosomal Recessive 67 Deafness, Autosomal Recessive 68
Deafness, Autosomal Recessive 24 Deafness, Autosomal Recessive 63
Deafness, Autosomal Dominant 27 Deafness, Autosomal Recessive 45
Deafness, Autosomal Dominant 59 Deafness, Autosomal Dominant 3b
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive 1b
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 50
Deafness, Autosomal Recessive 77 Deafness, Autosomal Recessive 25
Deafness, Autosomal Recessive 79 Deafness, Autosomal Recessive 84a
Deafness, Autosomal Recessive 85 Deafness, Autosomal Recessive 91
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 83
Deafness, Autosomal Recessive 74 Deafness, Autosomal Recessive 61
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 29
Deafness, Autosomal Dominant 64 Deafness, Autosomal Dominant 33
Deafness, Autosomal Recessive 96 Deafness, Autosomal Dominant 4b
Deafness, Autosomal Recessive 86 Deafness, Autosomal Recessive 98
Deafness, Autosomal Recessive 93 Deafness, Autosomal Recessive 70
Deafness, Autosomal Recessive 84b Deafness, Autosomal Recessive 18b
Deafness, Autosomal Recessive 88 Deafness, Autosomal Recessive 76
Deafness, Autosomal Dominant 56 Deafness, Autosomal Dominant 54
Deafness, Autosomal Dominant 58 Deafness, Autosomal Recessive 101
Deafness, Autosomal Recessive 102 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 65 Deafness, Autosomal Dominant 67
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 104
Deafness, Autosomal Dominant 69 Deafness, Autosomal Recessive 97
Deafness, Autosomal Dominant 68 Deafness, Autosomal Dominant 70
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 71
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 106
Deafness, Autosomal Recessive 107 Deafness, Autosomal Recessive 108
Deafness, Autosomal Dominant 73 Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109 Deafness, Autosomal Recessive 110
Deafness, Autosomal Dominant 74 Deafness, Autosomal Recessive 111
Deafness, Autosomal Recessive 112 Deafness, Autosomal Recessive 113
Deafness, Autosomal Recessive 100 Deafness, Autosomal Recessive 94
Deafness, Autosomal Recessive 114 Deafness, Autosomal Recessive 115
Deafness, Autosomal Recessive 99 Deafness, Autosomal Dominant 37
Nonsyndromic Deafness Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 106
Autosomal Recessive Nonsyndromic Deafness 107 Autosomal Recessive Nonsyndromic Deafness 108
Autosomal Dominant Nonsyndromic Deafness 71 Autosomal Dominant Nonsyndromic Deafness 72
Autosomal Dominant Nonsyndromic Deafness 73 Autosomal Dominant Nonsyndromic Deafness 34
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 32
Autosomal Recessive Nonsyndromic Deafness 36 Familial Deafness

Diseases related to Deafness, Autosomal Dominant 20 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 21 30.8 MYH14 GSDME
2 baraitser-winter syndrome 2 10.6 FSCN2 ACTG1
3 congenital chloride diarrhea 10.4 SLC26A3 SLC26A2
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
5 autosomal dominant nonsyndromic deafness 10.3 MYH14 ACTG1
6 achondrogenesis, type ib 10.3 SLC26A3 SLC26A2
7 usher syndrome, type if 10.3 USH1G USH1C
8 sensorineural hearing loss 10.3
9 usher syndrome, type id 10.2 USH1G USH1C
10 deafness, autosomal dominant 17 10.2 MYH14 GSDME
11 diastrophic dysplasia 10.2 SLC26A8 SLC26A3 SLC26A2
12 pendred syndrome 10.2 SLC26A8 SLC26A3 SLC26A2
13 deafness, autosomal dominant 4a 10.1
14 deafness, autosomal dominant 6 10.1
15 deafness, autosomal dominant 7 10.1
16 deafness, autosomal dominant 16 10.1
17 autosomal dominant non-syndromic sensorineural deafness type dfna 10.1
18 deafness, autosomal recessive 30 10.0 MYH14 ESPN
19 autosomal recessive non-syndromic sensorineural deafness type dfnb 10.0 USH1G USH1C ESPN
20 usher syndrome, type i 9.9 USH1G USH1C ESPN ACTG1
21 usher syndrome, type iid 9.9 USH1G USH1C
22 nonsyndromic deafness 9.4 USH1G USH1C MYH14 GSDME ESPN ACTG1

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

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

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

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, Endothelial

Publications for Deafness, Autosomal Dominant 20

Articles related to Deafness, Autosomal Dominant 20:

(show all 24)
# Title Authors PMID Year
1
In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment. 38 8 71
19477959 2009
2
A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment. 38 8 71
16773128 2006
3
A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26). 38 8 71
14684684 2003
4
Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26). 38 8 71
13680526 2003
5
A second kindred linked to DFNA20 (17q25.3) reduces the genetic interval. 38 8 71
12519370 2003
6
Hereditary progressive perceptive deafness in a family of 72 patients. 8 71
5654493 1968
7
A new locus for late-onset, progressive, hereditary hearing loss DFNA20 maps to 17q25. 38 8
10662538 2000
8
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 71
24651602 2014
9
Hereditary Hearing Loss and Deafness Overview 71
20301607 1999
10
Amino acid 118 in the Deafness Causing (DFNA20/26) ACTG1 gene is a Mutational Hot Spot. 38
30599039 2018
11
A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report. 38
29620237 2018
12
Two Deafness-Causing Actin Mutations (DFNA20/26) Have Allosteric Effects on the Actin Structure. 38
27463135 2016
13
Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation. 38
26832775 2016
14
Mutational spectrum and clinical features of patients with ACTG1 mutations identified by massively parallel DNA sequencing. 38
25792668 2015
15
Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family. 38
23506231 2013
16
Two deafness-causing (DFNA20/26) actin mutations affect Arp2/3-dependent actin regulation. 38
22718764 2012
17
Allele-specific effects of human deafness gamma-actin mutations (DFNA20/26) on the actin/cofilin interaction. 38
19419963 2009
18
Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1. 38
19548389 2009
19
Effects of human deafness gamma-actin mutations (DFNA20/26) on actin function. 38
16690605 2006
20
A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment. 38
15023833 2004
21
Molecular and functional characterization of SLC26A11, a sodium-independent sulfate transporter from high endothelial venules. 38
12626430 2003
22
A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25. 38
11941484 2002
23
Clinical presentation of the DFNA loci where causative genes have not yet been cloned. DFNA4, DFNA6/14, DFNA7, DFNA16, DFNA20 and DFNA21. 38
12408070 2002
24
Audiologic aspects of the search for DFNA20: a gene causing late-onset, progressive, sensorineural hearing loss. 38
11527035 2001

Variations for Deafness, Autosomal Dominant 20

ClinVar genetic disease variations for Deafness, Autosomal Dominant 20:

6 (show all 21)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ACTG1 NM_001614.5(ACTG1): c.994C> G (p.Pro332Ala) single nucleotide variant Pathogenic rs104894545 17:79477850-79477850 17:81510824-81510824
2 ACTG1 NM_001614.5(ACTG1): c.791C> T (p.Pro264Leu) single nucleotide variant Pathogenic rs104894546 17:79478225-79478225 17:81511199-81511199
3 ACTG1 NM_001614.5(ACTG1): c.833C> T (p.Thr278Ile) single nucleotide variant Pathogenic rs28999112 17:79478104-79478104 17:81511078-81511078
4 ACTG1 NM_001614.5(ACTG1): c.1109T> C (p.Val370Ala) single nucleotide variant Pathogenic rs104894547 17:79477735-79477735 17:81510709-81510709
5 ACTG1 NM_001614.5(ACTG1): c.354G> C (p.Lys118Asn) single nucleotide variant Pathogenic rs267606630 17:79478938-79478938 17:81511912-81511912
6 ACTG1 NM_001614.5(ACTG1): c.266C> T (p.Thr89Ile) single nucleotide variant Pathogenic rs28999111 17:79479026-79479026 17:81512000-81512000
7 ACTG1 NM_001614.5(ACTG1): c.766C> T (p.Arg256Trp) single nucleotide variant Pathogenic rs281875329 17:79478250-79478250 17:81511224-81511224
8 ACTG1 NM_001614.5(ACTG1): c.353A> T (p.Lys118Met) single nucleotide variant Likely pathogenic rs104894544 17:79478939-79478939 17:81511913-81511913
9 ACTG1 NM_001614.5(ACTG1): c.721G> A (p.Glu241Lys) single nucleotide variant Likely pathogenic rs267606631 17:79478295-79478295 17:81511269-81511269
10 ACTG1 NM_001614.5(ACTG1): c.457A> G (p.Met153Val) single nucleotide variant Uncertain significance rs1555666789 17:79478559-79478559 17:81511533-81511533
11 ACTG1 NM_001614.5(ACTG1): c.521C> G (p.Ala174Gly) single nucleotide variant Uncertain significance rs727504862 17:79478495-79478495 17:81511469-81511469
12 ACTG1 NM_001614.5(ACTG1): c.1103C> T (p.Ser368Phe) single nucleotide variant Uncertain significance rs1555666360 17:79477741-79477741 17:81510715-81510715
13 ACTG1 NM_001614.5(ACTG1): c.773C> T (p.Pro258Leu) single nucleotide variant Uncertain significance 17:79478243-79478243 17:81511217-81511217
14 ACTG1 NM_001614.5(ACTG1): c.364-8C> T single nucleotide variant Likely benign rs201748657 17:79478660-79478660 17:81511634-81511634
15 ACTG1 NM_001614.5(ACTG1): c.803-4C> T single nucleotide variant Likely benign rs782608976 17:79478138-79478138 17:81511112-81511112
16 ACTG1 NM_001614.5(ACTG1): c.802+10G> A single nucleotide variant Likely benign rs1555666580 17:79478204-79478204 17:81511178-81511178
17 ACTG1 NM_001614.5(ACTG1): c.985-7dup duplication Likely benign rs782289893 17:79477866-79477866 17:81510838-81510838
18 ACTG1 NM_001614.5(ACTG1): c.39C> T (p.Gly13=) single nucleotide variant Benign/Likely benign rs146865914 17:79479342-79479342 17:81512316-81512316
19 ACTG1 NM_001614.5(ACTG1): c.714G> A (p.Lys238=) single nucleotide variant Benign/Likely benign rs11549173 17:79478302-79478302 17:81511276-81511276
20 ACTG1 NM_001614.5(ACTG1): c.985-5T> C single nucleotide variant Benign/Likely benign rs370546734 17:79477864-79477864 17:81510838-81510838
21 ACTG1 NM_001614.5(ACTG1): c.471C> T (p.Asp157=) single nucleotide variant Benign rs11549222 17:79478545-79478545 17:81511519-81511519

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

74
# 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

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 USH1G USH1C FSCN2 ESPN CFL1 ARHGDIA
2 plasma membrane GO:0005886 9.77 USH1G USH1C SLC26A8 SLC26A3 SLC26A2 SLC26A11
3 filamentous actin GO:0031941 9.43 ESPN ACTG1
4 brush border GO:0005903 9.43 USH1C MYH14 ESPN
5 stereocilium tip GO:0032426 9.4 USH1C ESPN
6 stereocilium GO:0032420 9.33 USH1C FSCN2 ESPN
7 actin cytoskeleton GO:0015629 9.02 USH1G FSCN2 ESPN CFL1 ACTG1
8 membrane GO:0016020 10.21 USH1G SLC26A8 SLC26A3 SLC26A2 SLC26A11 SLC26A1

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

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

Sources for Deafness, Autosomal Dominant 20

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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