MCID: DFN139
MIFTS: 10

Deafness, Autosomal Recessive 29 malady

Genetic diseases, Ear diseases, Rare diseases, Fetal diseases, Neuronal diseases, Cardiovascular diseases categories

Summaries for Deafness, Autosomal Recessive 29

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Sources:
48OMIM, 34MalaCards
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MalaCards: Deafness, Autosomal Recessive 29 An important gene associated with Deafness, Autosomal Recessive 29 is CLDN14 (claudin 14).

Description from OMIM:48 614035

Aliases & Classifications for Deafness, Autosomal Recessive 29

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48OMIM
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Classifications:



Aliases & Descriptions:

deafness, autosomal recessive 29 48


Related Diseases for Deafness, Autosomal Recessive 29

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Diseases in the Deafness, Autosomal Dominant 4b 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 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 Dominant 3b
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 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 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 Recessive 29

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Sources:
48OMIM
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Clinical features from OMIM:

614035

Drugs & Therapeutics for Deafness, Autosomal Recessive 29

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Deafness, Autosomal Recessive 29

Drug clinical trials:

Search ClinicalTrials for Deafness, Autosomal Recessive 29

Search NIH Clinical Center for Deafness, Autosomal Recessive 29

Search CenterWatch for Deafness, Autosomal Recessive 29

Genetic Tests for Deafness, Autosomal Recessive 29

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Anatomical Context for Deafness, Autosomal Recessive 29

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Animal Models for Deafness, Autosomal Recessive 29 or affiliated genes

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Publications for Deafness, Autosomal Recessive 29

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Variations for Deafness, Autosomal Recessive 29

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 29:

65
id Symbol AA change Variation ID SNP ID
1CLDN14p.Val85AspVAR_010738
2CLDN14p.Arg81HisVAR_069979
3CLDN14p.Ser87IleVAR_069981
4CLDN14p.Ala94ValVAR_069982
5CLDN14p.Gly232ArgVAR_069983

Clinvar genetic disease variations for Deafness, Autosomal Recessive 29:

1
id Gene Name Type Significance SNP ID Assembly Location
1CLDN14CLDN14, 1-BP DEL, 398TdeletionPathogenic
2CLDN14NM_001146077.1(CLDN14): c.254T> A (p.Val85Asp)single nucleotide variantPathogenicrs74315437GRCh37Chr 21, 37833740: 37833740
3CLDN14NM_001146077.1(CLDN14): c.301G> A (p.Gly101Arg)single nucleotide variantPathogenicrs74315438GRCh37Chr 21, 37833693: 37833693

Expression for genes affiliated with Deafness, Autosomal Recessive 29

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Deafness, Autosomal Recessive 29

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 29.

Pathways for genes affiliated with Deafness, Autosomal Recessive 29

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Compounds for genes affiliated with Deafness, Autosomal Recessive 29

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GO Terms for genes affiliated with Deafness, Autosomal Recessive 29

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Products for genes affiliated with Deafness, Autosomal Recessive 29

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Deafness, Autosomal Recessive 29

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet