DFNB12
MCID: DFN141
MIFTS: 44

Deafness, Autosomal Recessive 12 (DFNB12)

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

Aliases & Classifications for Deafness, Autosomal Recessive 12

MalaCards integrated aliases for Deafness, Autosomal Recessive 12:

Name: Deafness, Autosomal Recessive 12 56 29 13 6 71
Deafness, Autosomal Recessive 12, Modifier of 56 29 6
Dfnb12 56 12 73
Autosomal Recessive Nonsyndromic Deafness 12 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12 73
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12 73
Congenital Neurosensory Deafness Autosomal Recessive 12 73
Deafness, Autosomal Recessive, Type 12 39
Deafness, Autosomal Recessive, 12 73
Autosomal Recessive Deafness 12 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
allelic to usher syndrome, type id


HPO:

31
deafness, autosomal recessive 12:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110467
OMIM 56 601386
OMIM Phenotypic Series 56 PS220290
MeSH 43 D006319
ICD10 32 H90.3
MedGen 41 C1832394
UMLS 71 C1832394

Summaries for Deafness, Autosomal Recessive 12

UniProtKB/Swiss-Prot : 73 Deafness, autosomal recessive, 12: 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 Recessive 12, also known as deafness, autosomal recessive 12, modifier of, is related to retinitis pigmentosa-deafness syndrome and dfnb1. An important gene associated with Deafness, Autosomal Recessive 12 is CDH23 (Cadherin Related 23). Affiliated tissues include brain, eye and pituitary, and related phenotypes are abnormality of the eye and prelingual sensorineural hearing impairment

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22.

More information from OMIM: 601386 PS220290

Related Diseases for Deafness, Autosomal Recessive 12

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 Recessive 12 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 114)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa-deafness syndrome 31.0 WHRN PCDH15 MYO7A CDH23
2 dfnb1 30.6 PCDH15 OTOF MYO7A GJB2
3 branchiootic syndrome 1 30.0 WHRN USH1G TMC1 SLC26A4 OTOF MYO7A
4 usher syndrome, type id 28.6 WHRN USH1G USH1C TRIOBP TMC1 STRC
5 retinitis pigmentosa 28.5 WHRN USH1G USH1C TMC1 SLC26A4 PCDH15
6 usher syndrome 28.3 WHRN USH1G USH1C TMIE TMC1 STRC
7 usher syndrome, type i 28.1 WHRN USH1G USH1C TRIOBP TMIE TMC1
8 nonsyndromic deafness 27.4 WHRN USH1G USH1C TRIOBP TMIE TMC1
9 autosomal recessive non-syndromic sensorineural deafness type dfnb 27.3 WHRN USH1C TRIOBP TMIE TMC1 STRC
10 sensorineural hearing loss 27.2 WHRN USH1G USH1C TRIOBP TMIE TMC1
11 pituitary adenoma 5, multiple types 10.6 CDH23 C10orf105
12 usher syndrome, type ik 10.5 PCDH15 CDH23
13 drug-induced hearing loss 10.5 MYO7A CDH23
14 auditory neuropathy spectrum disorder 10.5 OTOF MYO7A
15 deafness, autosomal dominant 1 10.5 MYO7A MYO15A GJB2
16 deafness, autosomal dominant 48 10.5 MYO7A MYO15A
17 deafness, autosomal recessive 3 10.4 MYO7A MYO15A GJB2
18 cone-rod dystrophy 15 10.4 MYO7A CDH17
19 deafness, autosomal recessive 59 10.4 OTOF GJB2
20 labyrinthitis 10.4 SLC26A4 MYO7A GJB2
21 deafness, autosomal dominant 9 10.4 PCDH15 MYO7A GJB2
22 auditory neuropathy, autosomal dominant, 1 10.4 OTOF GJB2
23 deafness, autosomal recessive 93 10.4 TRIOBP GJB2
24 deafness, autosomal dominant 6 10.4 SLC26A4 MYO7A GJB2
25 deafness, autosomal recessive 1b 10.4 GJB2 CEACAM16
26 acute hemorrhagic leukoencephalitis 10.4 USH1G CDH23
27 deafness, autosomal dominant 67 10.4 OTOF GJB2
28 deafness, autosomal recessive 27 10.4 TMIE TMC1
29 deafness, autosomal recessive 5 10.4 USH1C STRC
30 deafness, autosomal dominant 56 10.4 WHRN SLC26A4 GJB2
31 ear malformation 10.4 SLC26A4 GJB2
32 deafness, autosomal recessive 67 10.4 TMIE PCDH15
33 baraitser-winter syndrome 10.4 WHRN SLC26A4 CDH23
34 deafness, autosomal recessive 31 10.4 WHRN USH1G
35 deafness, autosomal recessive 49 10.3 OTOA MYO15A GJB2
36 deafness, autosomal dominant 64 10.3 GJB2 CEACAM16
37 deafness, autosomal dominant 2b 10.3 TRIOBP SLC26A4 GJB2
38 deafness, autosomal recessive 48 10.3 WHRN TMC1 MYO7A
39 hereditary hearing loss and deafness 10.3 CDH23 ATP2B2
40 deafness, autosomal recessive 37 10.3 TRIOBP MYO7A MYO15A
41 deafness, autosomal recessive 29 10.3 MYO15A GJB2
42 usher syndrome, type iiib 10.3 WHRN USH1G MYO7A
43 deafness, autosomal dominant 22 10.3 TRIOBP MYO7A MYO15A
44 deafness, autosomal dominant 59 10.3 USH1C STRC GJB2
45 deafness, autosomal recessive 25 10.3 TRIOBP MYO15A
46 deafness, autosomal dominant 3b 10.3 OTOA GJB2 CEACAM16
47 erythrokeratodermia variabilis et progressiva 1 10.3 TMIE OTOA GJB2
48 inner ear disease 10.3 SLC26A4 MYO7A GJB2 CDH23
49 deafness, autosomal dominant 17 10.3 PCDH15 OTOF MYO7A MYO15A
50 deafness, autosomal dominant 20 10.3 USH1G TRIOBP CDH23

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 12:



Diseases related to Deafness, Autosomal Recessive 12

Symptoms & Phenotypes for Deafness, Autosomal Recessive 12

Human phenotypes related to Deafness, Autosomal Recessive 12:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the eye 31 HP:0000478
2 prelingual sensorineural hearing impairment 31 HP:0000399

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
hearing loss, profound prelingual sensorineural

Head And Neck Eyes:
no retinitis pigmentosa

Clinical features from OMIM:

601386

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 12:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 10.09 ATP2B2 CDH23 CEACAM16 GJB2 MYO15A MYO7A
2 behavior/neurological MP:0005386 10.07 ATP2B2 CDH23 CEACAM16 MYO15A MYO7A OTOF
3 nervous system MP:0003631 9.86 ATP2B2 CDH23 GJB2 MYO15A MYO7A OTOA
4 vision/eye MP:0005391 9.28 CDH23 CEACAM16 GJB2 MYO15A MYO7A PCDH15

Drugs & Therapeutics for Deafness, Autosomal Recessive 12

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 12

Genetic Tests for Deafness, Autosomal Recessive 12

Genetic tests related to Deafness, Autosomal Recessive 12:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 12 29 ATP2B2 CDH23
2 Deafness, Autosomal Recessive 12, Modifier of 29

Anatomical Context for Deafness, Autosomal Recessive 12

MalaCards organs/tissues related to Deafness, Autosomal Recessive 12:

40
Brain, Eye, Pituitary

Publications for Deafness, Autosomal Recessive 12

Articles related to Deafness, Autosomal Recessive 12:

(show all 36)
# Title Authors PMID Year
1
Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss. 61 56 6
17850630 2007
2
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. 61 56 6
11090341 2001
3
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes. 61 56
21940737 2011
4
A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells. 61 56
19270079 2009
5
Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family. 61 6
12522556 2003
6
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. 61 6
12075507 2002
7
Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22. 61 56
8817348 1996
8
Analysis of protein-coding genetic variation in 60,706 humans. 6
27535533 2016
9
Modification of human hearing loss by plasma-membrane calcium pump PMCA2. 6
15829536 2005
10
Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss. 6
12910270 2003
11
Hereditary Hearing Loss and Deafness Overview 6
20301607 1999
12
Autosomal recessive nonsyndromal profound childhood deafness in a large pedigree. Audiometric features of the affected persons and the obligate carriers. 6
2706105 1989
13
Linkage analysis of hearing impairment in families of Bannu Distric. 61
31740869 2019
14
Recombinant protein of the first two ectodomains of cadherin 23 from erl mice shows impairment in Ca2+-dependent proteolysis protection. 61
29486248 2018
15
Recurrence of reported CDH23 mutations causing DFNB12 in a special cohort of South Indian hearing impaired assortative mating families - an evaluation. 61
29148562 2018
16
A novel variant in the CDH23 gene is associated with non-syndromic hearing loss in a Chinese family. 61
29287849 2018
17
Tauroursodeoxycholic acid prevents hearing loss and hair cell death in Cdh23(erl/erl) mice. 61
26748055 2016
18
Sector Retinitis Pigmentosa Associated With Novel Compound Heterozygous Mutations of CDH23. 61
26878454 2016
19
Discovery of CDH23 as a Significant Contributor to Progressive Postlingual Sensorineural Hearing Loss in Koreans. 61
27792758 2016
20
Molecular Distribution of Deafness Loci in Various Ethnic Groups of the Punjab, Pakistan. 61
26305302 2015
21
Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches. 61
25231367 2014
22
[Recent research on the development mechanism of DFNB12]. 61
24507011 2013
23
Otoprotective effects of erythropoietin on Cdh23erl/erl mice. 61
23384607 2013
24
A new mouse mutant of the Cdh23 gene with early-onset hearing loss facilitates evaluation of otoprotection drugs. 61
20644563 2012
25
An ENU-induced mutation of Cdh23 causes congenital hearing loss, but no vestibular dysfunction, in mice. 61
21689626 2011
26
Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F. 61
19375528 2009
27
Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing. 61
18273900 2008
28
Genetics of hearing loss: Allelism and modifier genes produce a phenotypic continuum. 61
16550584 2006
29
Fates of Cdh23/CDH23 with mutations affecting the cytoplasmic region. 61
16281288 2006
30
Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development. 61
15882574 2005
31
Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12). 61
15353998 2004
32
Clinical presentation of DFNB12 and Usher syndrome type 1D. 61
12408077 2002
33
Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice. 61
11386759 2001
34
Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D. 61
11138008 2001
35
DFNB9 and DFNB12. 61
10868229 2000
36
Fine genetic and comparative mapping of the deafness mutation Ames waltzer on mouse chromosome 10. 61
9653653 1998

Variations for Deafness, Autosomal Recessive 12

ClinVar genetic disease variations for Deafness, Autosomal Recessive 12:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CDH23 NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)SNV Pathogenic 4916 rs111033270 10:73539073-73539073 10:71779316-71779316
2 CDH23 NM_022124.6(CDH23):c.6133G>A (p.Asp2045Asn)SNV Pathogenic 4919 rs121908348 10:73550972-73550972 10:71791215-71791215
3 CDH23 NM_022124.6(CDH23):c.5663T>C (p.Phe1888Ser)SNV Pathogenic 4924 rs121908352 10:73544808-73544808 10:71785051-71785051
4 CDH23 NM_022124.6(CDH23):c.719C>T (p.Pro240Leu)SNV Pathogenic 4928 rs121908354 10:73330641-73330641 10:71570884-71570884
5 CDH23 NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter)SNV Pathogenic 45943 rs397517329 10:73498354-73498354 10:71738597-71738597
6 CDH23 NM_022124.6(CDH23):c.6050-9G>ASNV Pathogenic 46001 rs367928692 10:73550880-73550880 10:71791123-71791123
7 GJB2 NM_004004.6(GJB2):c.400T>C (p.Trp134Arg)SNV Pathogenic 236061 rs878853241 13:20763321-20763321 13:20189182-20189182
8 CDH23 NM_022124.6(CDH23):c.683A>T (p.Asp228Val)SNV Pathogenic 402247 rs1060499788 10:73330605-73330605 10:71570848-71570848
9 CDH23 NM_022124.6(CDH23):c.1036C>T (p.Pro346Ser)SNV Pathogenic 402250 rs1060499791 10:73377052-73377052 10:71617295-71617295
10 CDH23 NM_022124.6(CDH23):c.1037C>T (p.Pro346Leu)SNV Pathogenic 402251 rs778251205 10:73377053-73377053 10:71617296-71617296
11 CDH23 NM_022124.6(CDH23):c.1675C>T (p.Pro559Ser)SNV Pathogenic 402252 rs1060499792 10:73437373-73437373 10:71677616-71677616
12 CDH23 NM_022124.6(CDH23):c.3181G>A (p.Glu1061Lys)SNV Pathogenic 402253 rs1060499793 10:73468929-73468929 10:71709172-71709172
13 CDH23 NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys)SNV Pathogenic 402248 rs1060499789 10:73545424-73545424 10:71785667-71785667
14 CDH23 NM_022124.6(CDH23):c.8204T>C (p.Leu2735Pro)SNV Pathogenic 402249 rs1060499790 10:73567059-73567059 10:71807302-71807302
15 CDH23 NM_022124.6(CDH23):c.2132_2136del (p.Tyr711fs)deletion Pathogenic 446432 rs1554856042 10:73450297-73450301 10:71690540-71690544
16 CDH23 NM_022124.6(CDH23):c.7312G>A (p.Glu2438Lys)SNV Pathogenic 446449 rs1264310782 10:73559336-73559336 10:71799579-71799579
17 CDH23 NM_022124.6(CDH23):c.1934A>G (p.Asp645Gly)SNV Pathogenic 446443 rs1390562340 10:73442277-73442277 10:71682520-71682520
18 CDH23 NM_022124.6(CDH23):c.4877A>C (p.Asp1626Ala)SNV Pathogenic 446444 rs1554871816 10:73537468-73537468 10:71777711-71777711
19 CDH23 NM_022124.6(CDH23):c.5147A>C (p.Gln1716Pro)SNV Pathogenic 446445 rs758382198 10:73538025-73538025 10:71778268-71778268
20 CDH23 NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp)SNV Pathogenic 446446 rs750880909 10:73550924-73550924 10:71791167-71791167
21 CDH23 NM_022124.6(CDH23):c.6667del (p.Leu2223fs)deletion Pathogenic 446447 rs1554874879 10:73553351-73553351 10:71793594-71793594
22 CDH23 NM_022124.6(CDH23):c.6712+1G>ASNV Pathogenic 446448 rs1554874900 10:73553398-73553398 10:71793641-71793641
23 CDH23 NM_022124.6(CDH23):c.9129del (p.Asn3044fs)deletion Pathogenic 446450 rs1554877797 10:73571122-73571122 10:71811365-71811365
24 CDH23 NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala)SNV Pathogenic 619171 rs762226905 10:73550922-73550922 10:71791165-71791165
25 CDH23 NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter)SNV Pathogenic 627437 rs1344509500 10:73569774-73569774 10:71810017-71810017
26 CDH23 NM_022124.6(CDH23):c.3579+1G>ASNV Pathogenic 627436 rs1564759653 10:73485278-73485278 10:71725521-71725521
27 CDH23 NM_022124.6(CDH23):c.5369-1G>TSNV Pathogenic 627435 rs1564791773 10:73544043-73544043 10:71784286-71784286
28 CDH23 NM_022124.6(CDH23):c.8061C>G (p.Tyr2687Ter)SNV Likely pathogenic 623156 rs1564803868 10:73565751-73565751 10:71805994-71805994
29 CDH23 NM_022124.6(CDH23):c.6067_6070dup (p.Gly2024fs)duplication Likely pathogenic 627438 rs1564795354 10:73550904-73550905 10:71791147-71791148
30 CDH23 NM_022124.6(CDH23):c.478G>A (p.Asp160Asn)SNV Likely pathogenic 375463 rs1057519500 10:73326547-73326547 10:71566790-71566790
31 CDH23 NM_022124.6(CDH23):c.5653C>T (p.Arg1885Cys)SNV Likely pathogenic 522628 rs368848049 10:73544798-73544798 10:71785041-71785041
32 CDH23 NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn)SNV Likely pathogenic 4923 rs121908351 10:73492049-73492049 10:71732292-71732292
33 CDH23 NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser)SNV Likely pathogenic 46000 rs183431253 10:73550170-73550170 10:71790413-71790413
34 CDH23 NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn)SNV Likely pathogenic 4920 rs121908349 10:73553289-73553289 10:71793532-71793532
35 CDH23 NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn)SNV Conflicting interpretations of pathogenicity 4922 rs111033271 10:73553127-73553127 10:71793370-71793370
36 CDH23 NM_022124.6(CDH23):c.2236G>A (p.Val746Ile)SNV Conflicting interpretations of pathogenicity 162894 rs550384315 10:73453963-73453963 10:71694206-71694206
37 CDH23 NM_022124.6(CDH23):c.3022G>A (p.Val1008Met)SNV Conflicting interpretations of pathogenicity 166811 rs201053044 10:73466722-73466722 10:71706965-71706965
38 CDH23 NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln)SNV Conflicting interpretations of pathogenicity 46021 rs201434373 10:73558192-73558192 10:71798435-71798435
39 CDH23 NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val)SNV Conflicting interpretations of pathogenicity 46076 rs111033536 10:73572583-73572583 10:71812826-71812826
40 CDH23 NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr)SNV Conflicting interpretations of pathogenicity 45964 rs397517334 10:73537657-73537657 10:71777900-71777900
41 CDH23 NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp)SNV Conflicting interpretations of pathogenicity 45977 rs376271562 10:73544085-73544085 10:71784328-71784328
42 CDH23 NM_022124.6(CDH23):c.6866A>G (p.Asn2289Ser)SNV Conflicting interpretations of pathogenicity 228500 rs876657756 10:73558147-73558147 10:71798390-71798390
43 CDH23 NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)SNV Conflicting interpretations of pathogenicity 45891 rs181255269 10:73453990-73453990 10:71694233-71694233
44 CDH23 NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys)SNV Conflicting interpretations of pathogenicity 444219 rs756147087 10:73464800-73464800 10:71705043-71705043
45 CDH23 NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu)SNV Uncertain significance 631639 rs771353319 10:73501495-73501495 10:71741738-71741738
46 CDH23 NM_022124.6(CDH23):c.5747G>A (p.Arg1916His)SNV Uncertain significance 631640 rs746971522 10:73545422-73545422 10:71785665-71785665
47 CDH23 NM_022124.6(CDH23):c.3929C>T (p.Ala1310Val)SNV Uncertain significance 560725 rs483353051 10:73491957-73491957 10:71732200-71732200
48 CDH23 NM_022124.6(CDH23):c.8248G>A (p.Val2750Met)SNV Uncertain significance 417955 rs752930006 10:73567103-73567103 10:71807346-71807346
49 CDH23 NM_022124.6(CDH23):c.5945A>G (p.Asn1982Ser)SNV Uncertain significance 422021 rs555432123 10:73550066-73550066 10:71790309-71790309
50 CDH23 NM_022124.6(CDH23):c.3262G>A (p.Val1088Met)SNV Uncertain significance 45912 rs200632520 10:73472463-73472463 10:71712706-71712706

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 12:

73 (show all 31)
# Symbol AA change Variation ID SNP ID
1 CDH23 p.Asp990Asn VAR_012169 rs771766431
2 CDH23 p.Asp2045Asn VAR_012182 rs121908348
3 CDH23 p.Asp2202Asn VAR_012183 rs121908349
4 CDH23 p.Ile2950Asn VAR_012187 rs752937051
5 CDH23 p.Arg2956Cys VAR_012188 rs751367894
6 CDH23 p.Pro3059Thr VAR_012189 rs780514498
7 CDH23 p.Asp124Gly VAR_027317 rs751192273
8 CDH23 p.Asn452Ser VAR_027319 rs375646885
9 CDH23 p.Leu480Gln VAR_027320 rs767928788
10 CDH23 p.Arg582Gln VAR_027322 rs200263980
11 CDH23 p.Arg1060Trp VAR_027323 rs201536811
12 CDH23 p.Gly1186Asp VAR_027324
13 CDH23 p.Asp1341Asn VAR_027326 rs121908351
14 CDH23 p.Ala1586Pro VAR_027328 rs573737471
15 CDH23 p.Glu1595Lys VAR_027329 rs778204574
16 CDH23 p.Asp1846Asn VAR_027331 rs746323558
17 CDH23 p.Phe1888Ser VAR_027333 rs121908352
18 CDH23 p.Asp2148Asn VAR_027336 rs111033271
19 CDH23 p.Arg2465Trp VAR_027339 rs760879110
20 CDH23 p.Arg2608His VAR_027341 rs202052174
21 CDH23 p.Pro240Leu VAR_046404 rs121908354
22 CDH23 p.Arg301Gln VAR_046405 rs121908355
23 CDH23 p.Arg1417Trp VAR_046414 rs756231829
24 CDH23 p.Gln1716Pro VAR_046418
25 CDH23 p.Arg2029Trp VAR_046425 rs750880909
26 CDH23 p.Asn342Ser VAR_071408 rs145106249
27 CDH23 p.Glu956Lys VAR_071413 rs756147087
28 CDH23 p.Thr1368Met VAR_071418 rs762247872
29 CDH23 p.Asp1626Ala VAR_071422 rs155487181
30 CDH23 p.Asn2287Lys VAR_071425
31 CDH23 p.Glu2438Lys VAR_071426 rs126431078

Expression for Deafness, Autosomal Recessive 12

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

Pathways for Deafness, Autosomal Recessive 12

GO Terms for Deafness, Autosomal Recessive 12

Cellular components related to Deafness, Autosomal Recessive 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.26 WHRN USH1G USH1C TMC1 SLC26A4 PCDH15
2 synapse GO:0045202 9.88 WHRN USH1C PCDH15 OTOF MYO7A ATP2B2
3 photoreceptor outer segment GO:0001750 9.61 USH1C PCDH15 MYO7A
4 photoreceptor inner segment GO:0001917 9.56 WHRN USH1G USH1C MYO7A
5 stereocilium bundle GO:0032421 9.46 WHRN MYO15A
6 photoreceptor connecting cilium GO:0032391 9.46 WHRN USH1G USH1C MYO7A
7 stereocilia ankle link complex GO:0002142 9.37 WHRN USH1C
8 stereocilium tip GO:0032426 9.35 WHRN USH1C TMC1 STRC CEACAM16
9 stereocilia ankle link GO:0002141 9.32 WHRN USH1C
10 stereocilium GO:0032420 9.17 WHRN USH1C STRC PCDH15 MYO7A MYO15A

Biological processes related to Deafness, Autosomal Recessive 12 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 inner ear morphogenesis GO:0042472 9.8 USH1G USH1C TMIE MYO7A MYO15A
2 photoreceptor cell maintenance GO:0045494 9.76 USH1G USH1C PCDH15 CDH23
3 inner ear receptor cell stereocilium organization GO:0060122 9.73 WHRN USH1G USH1C PCDH15 MYO7A CDH23
4 auditory receptor cell stereocilium organization GO:0060088 9.72 WHRN TRIOBP STRC PCDH15 MYO7A
5 locomotory behavior GO:0007626 9.69 PCDH15 MYO15A CDH23
6 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.67 WHRN TMC1 STRC PCDH15
7 inner ear development GO:0048839 9.65 PCDH15 MYO7A GJB2
8 inner ear auditory receptor cell differentiation GO:0042491 9.61 USH1C PCDH15 MYO7A
9 equilibrioception GO:0050957 9.55 USH1G USH1C PCDH15 MYO7A CDH23
10 sensory perception of sound GO:0007605 9.55 WHRN USH1G USH1C TRIOBP TMIE TMC1
11 inner ear receptor cell differentiation GO:0060113 9.49 USH1G MYO7A
12 sensory perception of light stimulus GO:0050953 9.43 WHRN USH1G USH1C PCDH15 MYO7A CDH23

Molecular functions related to Deafness, Autosomal Recessive 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.35 PCDH15 OTOF GJB2 CDH23 CDH17
2 spectrin binding GO:0030507 8.8 USH1G USH1C MYO7A

Sources for Deafness, Autosomal Recessive 12

3 CDC
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