MCID: DFN141
MIFTS: 12

Deafness, Autosomal Recessive 12 malady

Genetic diseases, Ear diseases, Rare diseases, Fetal diseases, Neuronal diseases, Cardiovascular diseases categories
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Summaries for Deafness, Autosomal Recessive 12

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Sources:
47OMIM, 33MalaCards
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MalaCards: Deafness, Autosomal Recessive 12 is related to deafness, autosomal recessive 12, modifier of. An important gene associated with Deafness, Autosomal Recessive 12 is CDH23 (cadherin-related 23).

Description from OMIM:47 601386

Aliases & Classifications for Deafness, Autosomal Recessive 12

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47OMIM
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Classifications:



Aliases & Descriptions:

deafness, autosomal recessive 12 47


Related Diseases for Deafness, Autosomal Recessive 12

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Sources:
17GeneCards, 18GeneDecks
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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

Diseases related to Deafness, Autosomal Recessive 12 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1deafness, autosomal recessive 12, modifier of10.3

Symptoms for Deafness, Autosomal Recessive 12

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Sources:
47OMIM
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Clinical features from OMIM:

601386

Drugs & Therapeutics for Deafness, Autosomal Recessive 12

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Deafness, Autosomal Recessive 12

Search NIH Clinical Center for Deafness, Autosomal Recessive 12

Genetic Tests for Deafness, Autosomal Recessive 12

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Anatomical Context for Deafness, Autosomal Recessive 12

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Animal Models for Deafness, Autosomal Recessive 12 or affiliated genes

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Publications for Deafness, Autosomal Recessive 12

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Variations for Deafness, Autosomal Recessive 12

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 12:

64 (show all 24)
id Symbol AA change Variation ID SNP ID
1CDH23p.Asp990AsnVAR_012169
2CDH23p.Asp2045AsnVAR_012182
3CDH23p.Asp2202AsnVAR_012183
4CDH23p.Ile2950AsnVAR_012187
5CDH23p.Arg2956CysVAR_012188
6CDH23p.Pro3059ThrVAR_012189
7CDH23p.Asp124GlyVAR_027317
8CDH23p.Asn452SerVAR_027319
9CDH23p.Leu480GlnVAR_027320
10CDH23p.Arg582GlnVAR_027322
11CDH23p.Arg1060TrpVAR_027323
12CDH23p.Gly1186AspVAR_027324
13CDH23p.Asp1341AsnVAR_027326
14CDH23p.Ala1586ProVAR_027328
15CDH23p.Glu1595LysVAR_027329
16CDH23p.Asp1846AsnVAR_027331
17CDH23p.Phe1888SerVAR_027333
18CDH23p.Asp2148AsnVAR_027336
19CDH23p.Arg2465TrpVAR_027339
20CDH23p.Arg2608HisVAR_027341
21CDH23p.Pro240LeuVAR_046404rs121908354
22CDH23p.Arg301GlnVAR_046405
23CDH23p.Gln1716ProVAR_046418
24CDH23p.Arg2029TrpVAR_046425

Clinvar genetic disease variations for Deafness, Autosomal Recessive 12:

1
id Gene Name Type Significance SNP ID Assembly Location
1CDH23NM_022124.5(CDH23): c.6133G> A (p.Asp2045Asn)single nucleotide variantPathogenicrs121908348GRCh37Chr 10, 73550972: 73550972
2CDH23NM_022124.5(CDH23): c.6604G> A (p.Asp2202Asn)single nucleotide variantPathogenicrs121908349GRCh37Chr 10, 73553289: 73553289
3CDH23NM_022124.5(CDH23): c.6442G> A (p.Asp2148Asn)single nucleotide variantPathogenicrs111033271GRCh37Chr 10, 73553127: 73553127
4NM_022124.5(CDH23): c.4021G> A (p.Asp1341Asn)single nucleotide variantPathogenicrs121908351GRCh37Chr 10, 73492049: 73492049
5CDH23NM_022124.5(CDH23): c.5663T> C (p.Phe1888Ser)single nucleotide variantPathogenicrs121908352GRCh37Chr 10, 73544808: 73544808
6CDH23NM_022124.5(CDH23): c.719C> T (p.Pro240Leu)single nucleotide variantPathogenicrs121908354GRCh37Chr 10, 73330641: 73330641
7CDH23NM_022124.5(CDH23): c.902G> A (p.Arg301Gln)single nucleotide variantPathogenicrs121908355GRCh37Chr 10, 73375330: 73375330

Expression for genes affiliated with Deafness, Autosomal Recessive 12

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Deafness, Autosomal Recessive 12

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 12.

Pathways for genes affiliated with Deafness, Autosomal Recessive 12

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Compounds for genes affiliated with Deafness, Autosomal Recessive 12

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GO Terms for genes affiliated with Deafness, Autosomal Recessive 12

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Products for genes affiliated with Deafness, Autosomal Recessive 12

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Deafness, Autosomal Recessive 12

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet