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 56 29 6 71
Dfna20 56 12 73
Dfna26 56 12 73
Autosomal Dominant Nonsyndromic Deafness 20 12 15
Deafness, Autosomal Dominant 20/26 56 13
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 20 73
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 20 73
Deafness, Autosomal Dominant, Type 20/26 39
Deafness, Autosomal Dominant, 20 73
Autosomal Dominant Deafness 20 12
Deafness Autosomal Dominant 26 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
deafness, autosomal dominant 20:
Inheritance autosomal dominant inheritance
Onset and clinical course young adult onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110550
OMIM 56 604717
OMIM Phenotypic Series 56 PS124900
MeSH 43 D006319
ICD10 32 H90.3
MedGen 41 C1858172
SNOMED-CT via HPO 68 194424005 263681008
UMLS 71 C1858172

Summaries for Deafness, Autosomal Dominant 20

UniProtKB/Swiss-Prot : 73 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 6 and autosomal dominant non-syndromic sensorineural deafness type dfna. An important gene associated with Deafness, Autosomal Dominant 20 is ACTG1 (Actin Gamma 1), and among its related pathways/superpathways are MSP-RON Signaling and Cell adhesion_Cadherin-mediated cell adhesion. Affiliated tissues include brain, endothelial and breast, 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 Otof-Related Deafness
Familial Deafness

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

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 6 30.5 POU4F3 GSDME
2 autosomal dominant non-syndromic sensorineural deafness type dfna 30.4 POU4F3 GSDME ACTG1
3 sensorineural hearing loss 27.8 USH1G TRIOBP TPRN POU4F3 GSDME ESPN
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
5 deafness, autosomal dominant 51 10.3 TPRN GSDME
6 deafness, autosomal dominant 41 10.3 POU4F3 GSDME
7 deafness, autosomal recessive 91 10.3 TPRN GSDME
8 deafness, autosomal dominant 9 10.2 POU4F3 GSDME
9 deafness, autosomal recessive 2 10.2 USH1G CDH23
10 deafness, autosomal dominant 18 10.2 GSDME ESPNL
11 usher syndrome, type ih 10.2 USH1G CDH23
12 autosomal recessive nonsyndromic deafness 3 10.2 TPRN CDH23
13 usher syndrome, type ij 10.2 USH1G CDH23
14 deafness, autosomal dominant 15 10.2 POU4F3 GSDME
15 acute hemorrhagic leukoencephalitis 10.1 USH1G CDH23
16 drug-induced hearing loss 10.1 POU4F3 CDH23
17 deafness, autosomal dominant 4a 10.1
18 deafness, autosomal dominant 7 10.1
19 deafness, autosomal dominant 16 10.1
20 deafness, autosomal dominant 21 10.1
21 usher syndrome, type iid 10.1 USH1G CDH23
22 breast myoepithelial carcinoma 10.1 ACTG1 ACTA1
23 deafness, autosomal recessive 61 10.1 TRIOBP TPRN
24 atelosteogenesis 10.1 SLC26A8 SLC26A11
25 deafness, autosomal recessive 37 10.1 TRIOBP TPRN
26 x-linked nonsyndromic deafness 10.1 TPRN POU4F3 GSDME
27 deafness, autosomal dominant 22 10.0 TRIOBP TPRN
28 deafness, autosomal recessive 23 10.0 USH1G CDH23
29 deafness, autosomal recessive 24 10.0 TRIOBP TPRN
30 deafness, autosomal recessive 25 10.0 TRIOBP ESPNL
31 usher syndrome, type ic 10.0 USH1G CDH23
32 usher syndrome, type ig 10.0 USH1G CDH23
33 rare genetic deafness 9.9 GSDME CDH23 ACTG1
34 baraitser-winter syndrome 9.9 CDH23 ACTG1
35 deafness, autosomal recessive 22 9.9 TRIOBP CDH23
36 usher syndrome, type if 9.9 USH1G CDH23
37 pendred syndrome 9.8 SLC26A8 SLC26A11 CDH23
38 usher syndrome, type iic 9.8 USH1G CDH23
39 usher syndrome, type id 9.8 USH1G TRIOBP CDH23
40 deafness, autosomal recessive 12 9.8 USH1G TRIOBP CDH23
41 autosomal recessive nonsyndromic deafness 9.8 TRIOBP TPRN CDH23
42 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.8 TRIOBP GSDME CDH23
43 deafness, autosomal recessive 30 9.7 ESPNL ESPN
44 deafness, autosomal dominant 11 9.7 USH1G POU4F3 GSDME CDH23
45 deafness, autosomal dominant 1 9.7 TPRN POU4F3 ESPN
46 branchiootic syndrome 1 9.7 USH1G CDH23
47 hereditary hearing loss and deafness 9.6 ESPN CDH23 ACTG1
48 deafness, autosomal dominant 2b 9.6 TRIOBP GSDME ESPN
49 usher syndrome type 2 9.6 USH1G ESPN CDH23
50 usher syndrome 9.4 USH1G ESPN CDH23 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:

31
# Description HPO Frequency HPO Source Accession
1 progressive sensorineural hearing impairment 31 HP:0000408
2 bilateral sensorineural hearing impairment 31 HP:0008619

Symptoms via clinical synopsis from OMIM:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.81 ACTA1 ACTG1 CDH23 ESPN ESPNL POU4F3
2 hearing/vestibular/ear MP:0005377 9.61 ACTG1 CDH23 ESPN ESPNL GSDME POU4F3
3 nervous system MP:0003631 9.28 ACTG1 CDH23 ESPN GSDME POU4F3 SLC26A11

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

Anatomical Context for Deafness, Autosomal Dominant 20

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

40
Brain, Endothelial, Breast

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. 61 56 6
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. 61 56 6
16773128 2006
3
A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26). 61 56 6
14684684 2003
4
Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26). 61 56 6
13680526 2003
5
A second kindred linked to DFNA20 (17q25.3) reduces the genetic interval. 61 56 6
12519370 2003
6
Hereditary progressive perceptive deafness in a family of 72 patients. 56 6
5654493 1968
7
A new locus for late-onset, progressive, hereditary hearing loss DFNA20 maps to 17q25. 61 56
10662538 2000
8
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 6
24651602 2014
9
Hereditary Hearing Loss and Deafness Overview 6
20301607 1999
10
A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report. 61
29620237 2018
11
Amino acid 118 in the Deafness Causing (DFNA20/26) ACTG1 gene is a Mutational Hot Spot. 61
30599039 2018
12
Two Deafness-Causing Actin Mutations (DFNA20/26) Have Allosteric Effects on the Actin Structure. 61
27463135 2016
13
Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation. 61
26832775 2016
14
Mutational spectrum and clinical features of patients with ACTG1 mutations identified by massively parallel DNA sequencing. 61
25792668 2015
15
Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family. 61
23506231 2013
16
Two deafness-causing (DFNA20/26) actin mutations affect Arp2/3-dependent actin regulation. 61
22718764 2012
17
Allele-specific effects of human deafness gamma-actin mutations (DFNA20/26) on the actin/cofilin interaction. 61
19419963 2009
18
Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1. 61
19548389 2009
19
Effects of human deafness gamma-actin mutations (DFNA20/26) on actin function. 61
16690605 2006
20
A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment. 61
15023833 2004
21
Molecular and functional characterization of SLC26A11, a sodium-independent sulfate transporter from high endothelial venules. 61
12626430 2003
22
A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25. 61
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. 61
12408070 2002
24
Audiologic aspects of the search for DFNA20: a gene causing late-onset, progressive, sensorineural hearing loss. 61
11527035 2001

Variations for Deafness, Autosomal Dominant 20

ClinVar genetic disease variations for Deafness, Autosomal Dominant 20:

6 (show all 18) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ACTG1 NM_001614.5(ACTG1):c.994C>G (p.Pro332Ala)SNV Pathogenic 18317 rs104894545 17:79477850-79477850 17:81510824-81510824
2 ACTG1 NM_001614.5(ACTG1):c.791C>T (p.Pro264Leu)SNV Pathogenic 18318 rs104894546 17:79478225-79478225 17:81511199-81511199
3 ACTG1 NM_001614.5(ACTG1):c.833C>T (p.Thr278Ile)SNV Pathogenic 18319 rs28999112 17:79478104-79478104 17:81511078-81511078
4 ACTG1 NM_001614.5(ACTG1):c.1109T>C (p.Val370Ala)SNV Pathogenic 18320 rs104894547 17:79477735-79477735 17:81510709-81510709
5 ACTG1 NM_001614.5(ACTG1):c.354G>C (p.Lys118Asn)SNV Pathogenic 18321 rs267606630 17:79478938-79478938 17:81511912-81511912
6 ACTG1 NM_001614.5(ACTG1):c.266C>T (p.Thr89Ile)SNV Pathogenic 18315 rs28999111 17:79479026-79479026 17:81512000-81512000
7 ACTG1 NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp)SNV Pathogenic 29590 rs281875329 17:79478250-79478250 17:81511224-81511224
8 ACTG1 NM_001614.5(ACTG1):c.353A>T (p.Lys118Met)SNV Likely pathogenic 18316 rs104894544 17:79478939-79478939 17:81511913-81511913
9 ACTG1 NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys)SNV Likely pathogenic 18322 rs267606631 17:79478295-79478295 17:81511269-81511269
10 ACTG1 NM_001614.5(ACTG1):c.608C>T (p.Thr203Met)SNV Likely pathogenic 803470 17:79478408-79478408 17:81511382-81511382
11 ACTG1 NM_001614.5(ACTG1):c.94C>T (p.Pro32Ser)SNV Likely pathogenic 807364 17:79479287-79479287 17:81512261-81512261
12 ACTG1 NM_001614.5(ACTG1):c.773C>T (p.Pro258Leu)SNV Conflicting interpretations of pathogenicity 639093 17:79478243-79478243 17:81511217-81511217
13 ACTG1 NM_001614.5(ACTG1):c.457A>G (p.Met153Val)SNV Uncertain significance 473006 rs1555666789 17:79478559-79478559 17:81511533-81511533
14 ACTG1 NM_001614.5(ACTG1):c.521C>G (p.Ala174Gly)SNV Uncertain significance 179428 rs727504862 17:79478495-79478495 17:81511469-81511469
15 ACTG1 NM_001614.5(ACTG1):c.1103C>T (p.Ser368Phe)SNV Uncertain significance 540214 rs1555666360 17:79477741-79477741 17:81510715-81510715
16 ACTG1 NM_001614.5(ACTG1):c.803-4C>TSNV Likely benign 540215 rs782608976 17:79478138-79478138 17:81511112-81511112
17 ACTG1 NM_001614.5(ACTG1):c.802+10G>ASNV Likely benign 540216 rs1555666580 17:79478204-79478204 17:81511178-81511178
18 ACTG1 NM_001614.5(ACTG1):c.985-7dupduplication Likely benign 439366 rs782289893 17:79477866-79477866 17:81510837-81510838

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

73
# 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

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

# Super pathways Score Top Affiliating Genes
1 10.94 ACTG1 ACTA1
2 10.76 ACTG1 ACTA1
3 10.39 ACTG1 ACTA1
4 9.9 ACTG1 ACTA1

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 9.72 USH1G TRIOBP ESPN ACTG1 ACTA1
2 actin cytoskeleton GO:0015629 9.35 USH1G TRIOBP ESPN ACTG1 ACTA1
3 filamentous actin GO:0031941 9.33 ESPNL ESPN ACTG1
4 stereocilium tip GO:0032426 9.26 ESPNL ESPN
5 stereocilium GO:0032420 8.92 TPRN ESPNL ESPN CDH23

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

# Name GO ID Score Top Affiliating Genes
1 anion transmembrane transport GO:0098656 9.48 SLC26A8 SLC26A11
2 actin filament bundle assembly GO:0051017 9.46 ESPNL ESPN
3 photoreceptor cell maintenance GO:0045494 9.43 USH1G CDH23
4 inner ear receptor cell stereocilium organization GO:0060122 9.4 USH1G CDH23
5 sulfate transport GO:0008272 9.37 SLC26A8 SLC26A11
6 sulfate transmembrane transport GO:1902358 9.32 SLC26A8 SLC26A11
7 sensory perception of light stimulus GO:0050953 9.26 USH1G CDH23
8 sensory perception of sound GO:0007605 9.23 USH1G TRIOBP TPRN POU4F3 GSDME ESPNL
9 equilibrioception GO:0050957 9.16 USH1G CDH23
10 inner ear receptor cell differentiation GO:0060113 9.13 USH1G POU4F3 GSDME

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 9.5 TRIOBP ESPNL ESPN
2 anion:anion antiporter activity GO:0015301 9.26 SLC26A8 SLC26A11
3 sulfate transmembrane transporter activity GO:0015116 9.16 SLC26A8 SLC26A11
4 anion transmembrane transporter activity GO:0008509 8.96 SLC26A8 SLC26A11
5 secondary active sulfate transmembrane transporter activity GO:0008271 8.62 SLC26A8 SLC26A11

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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