DFNA10
MCID: DFN107
MIFTS: 40

Deafness, Autosomal Dominant 10 (DFNA10)

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

Aliases & Classifications for Deafness, Autosomal Dominant 10

MalaCards integrated aliases for Deafness, Autosomal Dominant 10:

Name: Deafness, Autosomal Dominant 10 57 29 13 6 70
Dfna10 57 12 72
Autosomal Dominant Nonsyndromic Deafness 10 12 15
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 10 72
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 10 72
Deafness, Autosomal Dominant, Type 10 39
Deafness, Autosomal Dominant, 10 72
Autosomal Dominant Deafness 10 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset second to fifth decade


HPO:

31
deafness, autosomal dominant 10:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110542
OMIM® 57 601316
OMIM Phenotypic Series 57 PS124900
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C1832476
SNOMED-CT via HPO 68 263681008 60700002
UMLS 70 C1832476

Summaries for Deafness, Autosomal Dominant 10

UniProtKB/Swiss-Prot : 72 Deafness, autosomal dominant, 10: 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 10, also known as dfna10, is related to branchiootorenal spectrum disorder and branchiootic syndrome 1. An important gene associated with Deafness, Autosomal Dominant 10 is EYA4 (EYA Transcriptional Coactivator And Phosphatase 4), and among its related pathways/superpathways is DNA Double Strand Break Response. Related phenotypes are sensorineural hearing impairment and Increased Nanog expression

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the third or forth decade of life with a flat or gently downsloping audioprofiles and has material basis in mutation in the EYA4 gene on chromosome 6q23.

More information from OMIM: 601316 PS124900

Related Diseases for Deafness, Autosomal Dominant 10

Diseases in the Rare Deafness family:

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 Deafness, Autosomal Dominant 75
Deafness, Autosomal Dominant 76 Deafness, Autosomal Dominant 77
Deafness, Autosomal Dominant 78 Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116 Deafness, Autosomal Recessive 117
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
Autosomal Dominant Nonsyndromic Deafness 78 Autosomal Dominant Nonsyndromic Deafness 79
Autosomal Recessive Nonsyndromic Deafness 116 Autosomal Dominant Nonsyndromic Deafness 74
Autosomal Dominant Nonsyndromic Deafness 75 Autosomal Dominant Nonsyndromic Deafness 76
Autosomal Dominant Nonsyndromic Deafness 77 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

Diseases related to Deafness, Autosomal Dominant 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 branchiootorenal spectrum disorder 30.0 SIX5 SIX1 EYA1
2 branchiootic syndrome 1 29.8 TMC1 TECTA SIX1 EYA1
3 branchiootorenal syndrome 29.1 SIX5 SIX1 EYA4 EYA3 EYA2 EYA1
4 deafness, autosomal dominant 13 28.9 ZAN TECTA KCNQ4 GSDME EYA4 COL11A2
5 usher syndrome 28.9 TMC1 TECTA POU4F3 MYO6 KCNQ4 COL11A2
6 rare genetic deafness 28.3 TMC1 TECTA MYO6 KCNQ4 GSDME EYA4
7 sensorineural hearing loss 27.9 TMC1 TECTA POU4F3 MYO6 MYH14 KCNQ4
8 nonsyndromic hearing loss 27.8 TMC1 TECTA TARID SIX1 POU4F3 MYO6
9 autosomal dominant non-syndromic sensorineural deafness type dfna 27.4 TMC1 TECTA TARID SIX1 POU4F3 MYO6
10 nonsyndromic deafness 10.3 KCNQ4 COL11A2
11 deafness, autosomal dominant 24 10.3 POU4F3 CCDC50
12 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
13 eustachian tube disease 10.3 SIX1 EYA1
14 deafness, autosomal recessive 53 10.3 TECTA COL11A2
15 patulous eustachian tube 10.3 SIX1 EYA1
16 lacrimal duct obstruction 10.2 SIX5 EYA1
17 deafness, autosomal dominant 31 10.2 ZAN TECTA
18 deafness, autosomal dominant 49 10.2 ZAN TECTA
19 deafness, autosomal dominant 43 10.2 POU4F3 MYO6 CCDC50
20 stickler syndrome 10.2 TECTA EYA1 COL11A2
21 deafness, autosomal dominant 50 10.2 POU4F3 CCDC50
22 deafness, autosomal dominant 51 10.1 GSDME CCDC50
23 deafness, autosomal dominant 2b 10.1 POU4F3 KCNQ4 CCDC50
24 deafness, autosomal dominant 2a 10.1 POU4F3 KCNQ4 CCDC50
25 deafness, autosomal dominant 25 10.1 POU4F3 KCNQ4 CCDC50
26 deafness, autosomal dominant 7 10.1 TECTA MYO6
27 otospondylomegaepiphyseal dysplasia, autosomal dominant 10.1 TECTA COL11A2
28 papillorenal syndrome 10.1 SIX5 SIX1 EYA1
29 branchiootorenal syndrome 2 10.1 SIX5 SIX1 EYA1
30 townes-brocks syndrome 10.1 SIX5 SIX1 EYA1
31 vesicoureteral reflux 1 10.1 SIX5 SIX1 EYA1
32 deafness, autosomal dominant 54 10.1 POU4F3 MYH14
33 non-syndromic genetic deafness 10.1 TECTA MYO6 KCNQ4
34 deafness, autosomal recessive 91 10.1 GSDME GRHL2
35 cakut 10.1 SIX5 SIX1 EYA1
36 deafness, autosomal dominant 3a 10.1 GSDME GRHL2
37 deafness, autosomal dominant 48 10.0 MYO6 MYH14
38 congenital anomalies of kidney and urinary tract 2 10.0 SIX5 EYA1
39 renal hypodysplasia/aplasia 1 10.0 SIX5 SIX1 EYA1
40 dilated cardiomyopathy 10.0
41 deafness, autosomal dominant 11 10.0 POU4F3 GSDME COL11A2
42 deafness, autosomal recessive 2 10.0 TMC1 TECTA
43 deafness, autosomal dominant 64 10.0 MYH14 KCNQ4
44 deafness, autosomal dominant 16 10.0 POU4F3 MYO6 KCNQ4 CCDC50
45 deafness, autosomal dominant 41 10.0 POU4F3 KCNQ4 GSDME
46 deafness, autosomal recessive 37 10.0 MYO6 MYH14
47 deafness, autosomal recessive 30 10.0 MYO6 MYH14
48 syndromic microphthalmia 10.0 EYA3 EYA2 EYA1
49 deafness, autosomal dominant 22 9.9 MYO6 MYH14
50 x-linked nonsyndromic deafness 9.9 POU4F3 EYA1

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 10:



Diseases related to Deafness, Autosomal Dominant 10

Symptoms & Phenotypes for Deafness, Autosomal Dominant 10

Human phenotypes related to Deafness, Autosomal Dominant 10:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
deafness, sensorineural, progressive

Clinical features from OMIM®:

601316 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Deafness, Autosomal Dominant 10 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 9.1 EYA1
2 Increased Nanog expression GR00371-A-3 9.1 POU4F3
3 Increased Nanog expression GR00371-A-5 9.1 EYA1 EYA3 EYA4 POU4F3

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 10:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.7 COL11A2 EYA1 EYA3 EYA4 GSDME KCNQ4
2 nervous system MP:0003631 9.32 EYA1 GRHL2 GSDME KCNQ4 MYH14 MYO6

Drugs & Therapeutics for Deafness, Autosomal Dominant 10

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 10

Genetic Tests for Deafness, Autosomal Dominant 10

Genetic tests related to Deafness, Autosomal Dominant 10:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 10 29 EYA4

Anatomical Context for Deafness, Autosomal Dominant 10

Publications for Deafness, Autosomal Dominant 10

Articles related to Deafness, Autosomal Dominant 10:

(show all 26)
# Title Authors PMID Year
1
Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain. 61 6 57
17567890 2007
2
A novel splice site mutation in EYA4 causes DFNA10 hearing loss. 61 6 57
17568404 2007
3
Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus. 57 6 61
11159937 2001
4
Evaluation of the contribution of the EYA4 and GRHL2 genes in Korean patients with autosomal dominant non-syndromic hearing loss. 6 61
25781927 2015
5
Refined localization and two additional linked families for the DFNA10 locus for nonsyndromic hearing impairment. 61 57
10982027 2000
6
A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6. 61 57
8776603 1996
7
Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees. 6
30828794 2019
8
Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss. 6
15735644 2005
9
Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants. 61
32277154 2020
10
Prevalence and clinical features of hearing loss caused by EYA4 variants. 61
32107406 2020
11
Sensorineural hearing loss and mild cardiac phenotype caused by an EYA4 mutation. 61
30155266 2018
12
A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members. 61
29287889 2018
13
Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness. 61
27142990 2016
14
Identification of a novel truncation mutation of EYA4 in moderate degree hearing loss by targeted exome sequencing. 61
26015337 2016
15
Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment. 61
26331839 2016
16
A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness. 61
25963406 2015
17
Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation. 61
25681523 2015
18
Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non‑syndromic hearing loss. 61
25242383 2014
19
Eya1 regulates the growth of otic epithelium and interacts with Pax2 during the development of all sensory areas in the inner ear. 61
16916509 2006
20
A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10. 61
15492887 2004
21
A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10. 61
12477971 2002
22
DFNA10/EYA4--the clinical picture. 61
12408066 2002
23
The DFNA10 phenotype. 61
11558763 2001
24
Audiometric analysis of a Belgian family linked to the DFNA10 locus. 61
10993457 2000
25
Dilated cardiomyopathy and sensorineural hearing loss: a heritable syndrome that maps to 6q23-24. 61
10769282 2000
26
Presymptomatic diagnosis of nonsyndromic hearing loss by genotyping. 61
9440775 1998

Variations for Deafness, Autosomal Dominant 10

ClinVar genetic disease variations for Deafness, Autosomal Dominant 10:

6 (show top 50) (show all 103)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EYA4 EYA4, 2-BP INS, 1468AA Insertion Pathogenic 6236 GRCh37:
GRCh38:
2 EYA4 EYA4, 2200C-T SNV Pathogenic 6237 GRCh37:
GRCh38:
3 EYA4 EYA4, 2-BP INS, 1490AA Insertion Pathogenic 6239 GRCh37:
GRCh38:
4 EYA4 EYA4, IVS14, 1282-12T-A SNV Pathogenic 6240 GRCh37:
GRCh38:
5 EYA4 NM_004100.5(EYA4):c.441del (p.Tyr148fs) Deletion Pathogenic 236032 rs878853223 GRCh37: 6:133783474-133783474
GRCh38: 6:133462336-133462336
6 EYA4 , TARID NM_004100.5(EYA4):c.1720_1722delinsAAA (p.Tyr574Lys) Indel Pathogenic 813822 GRCh37: 6:133844297-133844299
GRCh38: 6:133523159-133523161
7 EYA4 , TARID NM_004100.5(EYA4):c.1347C>G (p.Tyr449Ter) SNV Likely pathogenic 623134 rs1562505728 GRCh37: 6:133834022-133834022
GRCh38: 6:133512884-133512884
8 EYA4 NM_004100.5(EYA4):c.1109G>A (p.Arg370His) SNV Likely pathogenic 163451 rs143936434 GRCh37: 6:133804171-133804171
GRCh38: 6:133483033-133483033
9 EYA4 , TARID NM_004100.5(EYA4):c.1739-1G>A SNV Likely pathogenic 208577 rs797045088 GRCh37: 6:133846291-133846291
GRCh38: 6:133525153-133525153
10 EYA4 NM_004100.5(EYA4):c.472C>T (p.Gln158Ter) SNV Likely pathogenic 982918 GRCh37: 6:133783507-133783507
GRCh38: 6:133462369-133462369
11 EYA4 NM_004100.5(EYA4):c.888G>A (p.Ser296=) SNV Uncertain significance 355444 rs768010410 GRCh37: 6:133789787-133789787
GRCh38: 6:133468649-133468649
12 EYA4 , TARID NM_004100.5(EYA4):c.*2049T>C SNV Uncertain significance 905649 GRCh37: 6:133851992-133851992
GRCh38: 6:133530854-133530854
13 EYA4 , TARID NM_004100.5(EYA4):c.*1532G>A SNV Uncertain significance 906090 GRCh37: 6:133851475-133851475
GRCh38: 6:133530337-133530337
14 EYA4 , TARID NM_004100.5(EYA4):c.*3121A>G SNV Uncertain significance 906225 GRCh37: 6:133853064-133853064
GRCh38: 6:133531926-133531926
15 EYA4 , TARID NM_004100.5(EYA4):c.*3132C>T SNV Uncertain significance 906226 GRCh37: 6:133853075-133853075
GRCh38: 6:133531937-133531937
16 EYA4 NM_004100.5(EYA4):c.182C>T (p.Thr61Ile) SNV Uncertain significance 355442 rs778473535 GRCh37: 6:133767866-133767866
GRCh38: 6:133446728-133446728
17 EYA4 NM_004100.5(EYA4):c.860C>T (p.Ala287Val) SNV Uncertain significance 847971 GRCh37: 6:133789759-133789759
GRCh38: 6:133468621-133468621
18 EYA4 NM_004100.5(EYA4):c.347C>T (p.Ala116Val) SNV Uncertain significance 355443 rs747223436 GRCh37: 6:133777763-133777763
GRCh38: 6:133456625-133456625
19 EYA4 NM_004100.5(EYA4):c.987G>T (p.Met329Ile) SNV Uncertain significance 239632 rs146144708 GRCh37: 6:133802617-133802617
GRCh38: 6:133481479-133481479
20 EYA4 NM_004100.5(EYA4):c.978C>G (p.Phe326Leu) SNV Uncertain significance 191663 rs773095472 GRCh37: 6:133802608-133802608
GRCh38: 6:133481470-133481470
21 EYA4 , TARID NM_004100.5(EYA4):c.*1744G>A SNV Uncertain significance 355458 rs542230437 GRCh37: 6:133851687-133851687
GRCh38: 6:133530549-133530549
22 EYA4 , TARID NM_004100.5(EYA4):c.1739-64G>A SNV Uncertain significance 163454 rs143208937 GRCh37: 6:133846228-133846228
GRCh38: 6:133525090-133525090
23 EYA4 , TARID NM_004100.5(EYA4):c.1338A>G (p.Leu446=) SNV Uncertain significance 355447 rs200309400 GRCh37: 6:133833915-133833915
GRCh38: 6:133512777-133512777
24 EYA4 NM_004100.5(EYA4):c.1107+10C>G SNV Uncertain significance 355446 rs752586864 GRCh37: 6:133802747-133802747
GRCh38: 6:133481609-133481609
25 EYA4 NM_004100.5(EYA4):c.-430T>C SNV Uncertain significance 355435 rs886061084 GRCh37: 6:133562523-133562523
GRCh38: 6:133241385-133241385
26 EYA4 , TARID NM_004100.5(EYA4):c.*1812G>T SNV Uncertain significance 355459 rs555600336 GRCh37: 6:133851755-133851755
GRCh38: 6:133530617-133530617
27 EYA4 , TARID NM_004100.5(EYA4):c.*2010A>G SNV Uncertain significance 355462 rs886061093 GRCh37: 6:133851953-133851953
GRCh38: 6:133530815-133530815
28 EYA4 , TARID NM_004100.5(EYA4):c.*2660T>C SNV Uncertain significance 355473 rs886061096 GRCh37: 6:133852603-133852603
GRCh38: 6:133531465-133531465
29 EYA4 NM_004100.5(EYA4):c.970+5A>G SNV Uncertain significance 355445 rs886061089 GRCh37: 6:133789874-133789874
GRCh38: 6:133468736-133468736
30 EYA4 NM_004100.5(EYA4):c.-124C>T SNV Uncertain significance 355440 rs886061088 GRCh37: 6:133562829-133562829
GRCh38: 6:133241691-133241691
31 EYA4 NM_004100.5(EYA4):c.-256C>T SNV Uncertain significance 355438 rs886061086 GRCh37: 6:133562697-133562697
GRCh38: 6:133241559-133241559
32 EYA4 , TARID NM_004100.5(EYA4):c.*2269C>T SNV Uncertain significance 355466 rs533609774 GRCh37: 6:133852212-133852212
GRCh38: 6:133531074-133531074
33 EYA4 , TARID NM_004100.5(EYA4):c.*333G>A SNV Uncertain significance 355449 rs746964933 GRCh37: 6:133850276-133850276
GRCh38: 6:133529138-133529138
34 EYA4 , TARID NM_004100.5(EYA4):c.*1513T>C SNV Uncertain significance 355456 rs886061092 GRCh37: 6:133851456-133851456
GRCh38: 6:133530318-133530318
35 EYA4 , TARID NM_004100.5(EYA4):c.*2360G>A SNV Uncertain significance 355469 rs886061094 GRCh37: 6:133852303-133852303
GRCh38: 6:133531165-133531165
36 EYA4 , TARID NM_004100.5(EYA4):c.*3267C>A SNV Uncertain significance 355478 rs886061099 GRCh37: 6:133853210-133853210
GRCh38: 6:133532072-133532072
37 EYA4 NM_004100.5(EYA4):c.-408G>T SNV Uncertain significance 355436 rs886061085 GRCh37: 6:133562545-133562545
GRCh38: 6:133241407-133241407
38 EYA4 , TARID NM_004100.5(EYA4):c.*2750C>A SNV Uncertain significance 355474 rs886061097 GRCh37: 6:133852693-133852693
GRCh38: 6:133531555-133531555
39 EYA4 , TARID NM_004100.5(EYA4):c.*2511G>A SNV Uncertain significance 355471 rs560590444 GRCh37: 6:133852454-133852454
GRCh38: 6:133531316-133531316
40 EYA4 , TARID NM_004100.5(EYA4):c.*2759G>A SNV Uncertain significance 355475 rs886061098 GRCh37: 6:133852702-133852702
GRCh38: 6:133531564-133531564
41 EYA4 NM_004100.5(EYA4):c.438-15T>C SNV Uncertain significance 904645 GRCh37: 6:133783458-133783458
GRCh38: 6:133462320-133462320
42 EYA4 , TARID NM_004100.5(EYA4):c.1418G>T (p.Gly473Val) SNV Uncertain significance 178347 rs146977269 GRCh37: 6:133834093-133834093
GRCh38: 6:133512955-133512955
43 EYA4 , TARID NM_004100.5(EYA4):c.1617-11C>T SNV Uncertain significance 227369 rs118166702 GRCh37: 6:133844183-133844183
GRCh38: 6:133523045-133523045
44 EYA4 , TARID NM_004100.5(EYA4):c.*756A>G SNV Uncertain significance 904793 GRCh37: 6:133850699-133850699
GRCh38: 6:133529561-133529561
45 EYA4 , TARID NM_004100.5(EYA4):c.*1346C>T SNV Uncertain significance 904794 GRCh37: 6:133851289-133851289
GRCh38: 6:133530151-133530151
46 EYA4 , TARID NM_004100.5(EYA4):c.*2377C>T SNV Uncertain significance 903809 GRCh37: 6:133852320-133852320
GRCh38: 6:133531182-133531182
47 EYA4 , TARID NM_004100.5(EYA4):c.*2439G>A SNV Uncertain significance 903810 GRCh37: 6:133852382-133852382
GRCh38: 6:133531244-133531244
48 EYA4 , TARID NM_004100.5(EYA4):c.*15C>T SNV Uncertain significance 905513 GRCh37: 6:133849958-133849958
GRCh38: 6:133528820-133528820
49 EYA4 , TARID NM_004100.5(EYA4):c.*222G>A SNV Uncertain significance 905514 GRCh37: 6:133850165-133850165
GRCh38: 6:133529027-133529027
50 EYA4 , TARID NM_004100.5(EYA4):c.*265G>A SNV Uncertain significance 905515 GRCh37: 6:133850208-133850208
GRCh38: 6:133529070-133529070

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 10:

72
# Symbol AA change Variation ID SNP ID
1 EYA4 p.Gly171Arg VAR_074570 rs147136285
2 EYA4 p.Thr548Arg VAR_074571

Expression for Deafness, Autosomal Dominant 10

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 10.

Pathways for Deafness, Autosomal Dominant 10

Pathways related to Deafness, Autosomal Dominant 10 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.28 EYA4 EYA3 EYA2 EYA1

GO Terms for Deafness, Autosomal Dominant 10

Biological processes related to Deafness, Autosomal Dominant 10 according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.09 SIX5 SIX1 EYA4 EYA3 EYA2 EYA1
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.08 SIX5 SIX1 POU4F3 MYO6 GRHL2 EYA1
3 DNA repair GO:0006281 9.93 EYA4 EYA3 EYA2 EYA1
4 chromatin organization GO:0006325 9.88 EYA4 EYA3 EYA2 EYA1
5 protein dephosphorylation GO:0006470 9.81 EYA4 EYA3 EYA2 EYA1
6 anatomical structure morphogenesis GO:0009653 9.79 EYA4 EYA3 EYA1
7 peptidyl-tyrosine dephosphorylation GO:0035335 9.71 EYA4 EYA3 EYA2 EYA1
8 inner ear development GO:0048839 9.67 SIX1 POU4F3 EYA4
9 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.67 EYA4 EYA3 EYA2 EYA1
10 anatomical structure development GO:0048856 9.65 SIX1 EYA4 EYA3 EYA2 EYA1
11 cochlea morphogenesis GO:0090103 9.62 SIX1 EYA1
12 positive regulation of DNA repair GO:0045739 9.62 EYA4 EYA3 EYA2 EYA1
13 middle ear morphogenesis GO:0042474 9.6 SIX1 EYA1
14 actin filament-based movement GO:0030048 9.59 MYO6 MYH14
15 pharyngeal system development GO:0060037 9.58 SIX1 EYA1
16 neuron fate specification GO:0048665 9.57 SIX1 EYA1
17 aorta morphogenesis GO:0035909 9.56 SIX1 EYA1
18 otic vesicle development GO:0071599 9.55 SIX1 EYA1
19 inner ear morphogenesis GO:0042472 9.55 SIX1 POU4F3 MYO6 KCNQ4 EYA1
20 inner ear receptor cell differentiation GO:0060113 9.54 POU4F3 GSDME
21 inner ear auditory receptor cell differentiation GO:0042491 9.52 POU4F3 MYO6
22 mesodermal cell fate specification GO:0007501 9.48 EYA2 EYA1
23 striated muscle tissue development GO:0014706 9.46 EYA2 EYA1
24 positive regulation of secondary heart field cardioblast proliferation GO:0072513 9.43 SIX1 EYA1
25 sensory perception of sound GO:0007605 9.4 TMC1 TECTA SIX1 POU4F3 MYO6 MYH14
26 histone dephosphorylation GO:0016576 9.26 EYA4 EYA3 EYA2 EYA1

Molecular functions related to Deafness, Autosomal Dominant 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microfilament motor activity GO:0000146 9.26 MYO6 MYH14
2 phosphoprotein phosphatase activity GO:0004721 9.26 EYA4 EYA3 EYA2 EYA1
3 actin-dependent ATPase activity GO:0030898 9.16 MYO6 MYH14
4 protein tyrosine phosphatase activity GO:0004725 8.92 EYA4 EYA3 EYA2 EYA1

Sources for Deafness, Autosomal Dominant 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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