MCID: DFN136
MIFTS: 13

Deafness, Autosomal Dominant 9 malady

Genetic diseases, Ear diseases, Rare diseases, Fetal diseases, Neuronal diseases, Cardiovascular diseases categories
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Summaries for Deafness, Autosomal Dominant 9

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MalaCards based summary: Deafness, Autosomal Dominant 9 and has symptoms including An important gene associated with Deafness, Autosomal Dominant 9 is COCH (cochlin).

Description from OMIM:46 601369

Aliases & Classifications for Deafness, Autosomal Dominant 9

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Deafness, Autosomal Dominant 9, Aliases & Descriptions:

Name: Deafness, Autosomal Dominant 9 46


Classifications:



Related Diseases for Deafness, Autosomal Dominant 9

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Diseases in the Deafness, Autosomal Dominant 3b family:

Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 55
Deafness, Autosomal Recessive 96 Deafness, Autosomal Recessive 36
Deafness, Autosomal Dominant 2b Deafness, Autosomal Dominant 2a
Deafness, Autosomal Recessive 32 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 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 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 66
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 53
Deafness, Autosomal Dominant 31 Deafness, Autosomal Recessive 67
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
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 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 18b
Deafness, Autosomal Dominant 59 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 Recessive 84b Deafness, Autosomal Dominant 25
Deafness, Autosomal Dominant 64 Deafness, Autosomal Dominant 41
Deafness, Autosomal Recessive 1a Deafness, Autosomal Dominant 3a
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 Recessive 48 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 Dominant 20/26
Deafness, Autosomal Recessive 46 Deafness, Autosomal Recessive 77
Deafness, Autosomal Recessive 15 Deafness, Autosomal Recessive 68
Deafness, Autosomal Recessive 81 Deafness, Autosomal Recessive 76
Deafness, Autosomal Dominant 4b Deafness, Autosomal Dominant 4a
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

Symptoms for Deafness, Autosomal Dominant 9

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Symptoms by clinical synopsis from OMIM:

601369

Clinical features from OMIM:

601369

HPO human phenotypes related to Deafness, Autosomal Dominant 9:

(show all 8)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 tinnitus HP:0000360
3 vertigo HP:0002321
4 progressive disorder HP:0003676
5 cochlear degeneration HP:0005102
6 postlingual sensorineural hearing impairment HP:0008596
7 abnormality of the vestibulocochlear nerve HP:0009591
8 young adult onset HP:0011462

Drugs & Therapeutics for Deafness, Autosomal Dominant 9

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Drug clinical trials:

Search ClinicalTrials for Deafness, Autosomal Dominant 9

Search NIH Clinical Center for Deafness, Autosomal Dominant 9

Genetic Tests for Deafness, Autosomal Dominant 9

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Anatomical Context for Deafness, Autosomal Dominant 9

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Animal Models for Deafness, Autosomal Dominant 9 or affiliated genes

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Publications for Deafness, Autosomal Dominant 9

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Variations for Deafness, Autosomal Dominant 9

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UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 9:

64
id Symbol AA change Variation ID SNP ID
1COCHp.Pro51SerVAR_008532rs28938175
2COCHp.Val66GlyVAR_008533
3COCHp.Gly88GluVAR_008534
4COCHp.Ile109AsnVAR_008535
5COCHp.Trp117ArgVAR_008536
6COCHp.Ala119ThrVAR_017175
7COCHp.Cys162TyrVAR_070034

Clinvar genetic disease variations for Deafness, Autosomal Dominant 9:

6
id Gene Name Type Significance SNP ID Assembly Location
1NM_004086.2(COCH): c.197T> G (p.Val66Gly)single nucleotide variantPathogenicrs121908927GRCh37Chr 14, 31346892: 31346892
2NM_004086.2(COCH): c.263G> A (p.Gly88Glu)single nucleotide variantPathogenicrs121908928GRCh37Chr 14, 31348040: 31348040
3NM_004086.2(COCH): c.349T> C (p.Trp117Arg)single nucleotide variantPathogenicrs121908929GRCh37Chr 14, 31348126: 31348126
4NM_004086.2(COCH): c.151C> T (p.Pro51Ser)single nucleotide variantPathogenicrs28938175GRCh37Chr 14, 31346846: 31346846
5NM_004086.2(COCH): c.326T> A (p.Ile109Asn)single nucleotide variantPathogenicrs121908930GRCh37Chr 14, 31348103: 31348103
6NM_004086.2(COCH): c.355G> A (p.Ala119Thr)single nucleotide variantPathogenicrs121908931GRCh37Chr 14, 31348132: 31348132
7NM_004086.2(COCH): c.1625G> T (p.Cys542Phe)single nucleotide variantPathogenicrs121908932GRCh37Chr 14, 31358969: 31358969
8NM_004086.2(COCH): c.1625G> A (p.Cys542Tyr)single nucleotide variantPathogenicrs121908932GRCh37Chr 14, 31358969: 31358969
9NM_004086.2(COCH): c.1535T> C (p.Met512Thr)single nucleotide variantPathogenicrs121908934GRCh37Chr 14, 31358879: 31358879

Expression for genes affiliated with Deafness, Autosomal Dominant 9

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Expression patterns in normal tissues for genes affiliated with Deafness, Autosomal Dominant 9

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 9.

Pathways for genes affiliated with Deafness, Autosomal Dominant 9

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Compounds for genes affiliated with Deafness, Autosomal Dominant 9

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GO Terms for genes affiliated with Deafness, Autosomal Dominant 9

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Products for genes affiliated with Deafness, Autosomal Dominant 9

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  • Antibodies
  • Proteins
  • Lysates

Sources for Deafness, Autosomal Dominant 9

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet