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 58 30 13 6 74
Dfnb12 58 12 76
Deafness, Autosomal Recessive 12, Modifier of 58 6
Autosomal Recessive Nonsyndromic Deafness 12 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12 76
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12 76
Congenital Neurosensory Deafness Autosomal Recessive 12 76
Deafness, Autosomal Recessive, Type 12 41
Deafness, Autosomal Recessive, 12 76
Autosomal Recessive Deafness 12 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
allelic to usher syndrome, type id


HPO:

33
deafness, autosomal recessive 12:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110467
OMIM 58 601386
MeSH 45 D006319
ICD10 34 H90.3
MedGen 43 C1832394
UMLS 74 C1832394

Summaries for Deafness, Autosomal Recessive 12

UniProtKB/Swiss-Prot : 76 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 dfnb12, is related to retinitis pigmentosa-deafness syndrome and usher syndrome, type id. An important gene associated with Deafness, Autosomal Recessive 12 is CDH23 (Cadherin Related 23), and among its related pathways/superpathways are WNT Signaling and Myometrial Relaxation and Contraction Pathways. 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.

Description from OMIM: 601386

Related Diseases for Deafness, Autosomal Recessive 12

Diseases in the Familial 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 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
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

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

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa-deafness syndrome 30.8 CDH23 MYO7A PCDH15
2 usher syndrome, type id 30.5 CDH23 MYO7A PCDH15 USH1C
3 usher syndrome 30.4 CDH23 GJB2 MYO7A PCDH15 USH1C
4 nonsyndromic deafness 28.3 CDH23 GJB2 GJB3 GJB6 MT-RNR1 MYO7A
5 deafness, autosomal recessive 2 10.5 GJB2 MYO7A
6 deafness, autosomal recessive 3 10.4 GJB2 MYO7A
7 pituitary adenoma 5, multiple types 10.4 C10orf105 CDH23
8 autosomal recessive nonsyndromic deafness 10.3 CDH23 GJB2 SLC26A4
9 hypotrichosis-deafness syndrome 10.3 GJB2 GJB3
10 auditory neuropathy spectrum disorder 10.3 MT-RNR1 MYO7A
11 deafness, autosomal recessive 93 10.3 GJB2 GJB3
12 usher syndrome, type ig 10.3 CDH23 MYO7A PCDH15
13 deafness, autosomal dominant 24 10.3 GJB2 GJB6
14 deafness, autosomal recessive 26 10.2 CDH23 GJB2 SLC26A4
15 deafness, autosomal recessive 28 10.2 GJB2 GJB3
16 knuckle pads, leukonychia, and sensorineural deafness 10.2 GJB2 GJB6
17 deafness, autosomal recessive 7 10.2 GJB2 MT-RNR1
18 deafness, autosomal recessive 85 10.2 CDH23 MYO7A SLC26A4
19 deafness, autosomal recessive 83 10.2 CDH23 MYO7A SLC26A4
20 deafness, autosomal dominant 36 10.2 GJB2 MT-RNR1 SLC26A4
21 deafness, x-linked 2 10.2 GJB2 GJB6
22 usher syndrome, type ic 10.2 CDH23 MYO7A USH1C
23 vohwinkel syndrome 10.2 GJB2 GJB6
24 deafness, autosomal recessive 33 10.2 GJB2 PCDH15
25 deafness, autosomal recessive 10.2 GJB3 PCDH15 USH1C
26 autosomal recessive nonsyndromic deafness 3 10.1 CDH23 GJB2 MYO7A SLC26A4
27 congenital cytomegalovirus 10.1 GJB2 GJB6 MT-RNR1
28 branchiootic syndrome 1 10.1 CDH23 GJB2 MYO7A SLC26A4
29 drug-induced hearing loss 10.1 GJB2 GJB3 SLC26A4
30 kid syndrome 10.1 GJB2 GJB3 GJB6
31 usher syndrome, type i 10.1 CDH23 MYO7A PCDH15 USH1C
32 pseudoainhum 10.1 GJB2 GJB3 GJB6
33 usher syndrome, type if 10.1 CDH23 MYO7A PCDH15 USH1C
34 deafness, autosomal recessive 30 10.1 GJB2 MT-RNR1 MYO7A SLC26A4
35 deafness, autosomal recessive 1a 10.1 GJB2 GJB3 GJB6
36 usher syndrome, type iid 10.1 CDH23 MYO7A PCDH15 USH1C
37 knuckle pads 10.1 GJB2 GJB3 GJB6
38 usher syndrome, type iiia 10.1 CDH23 MYO7A PCDH15 USH1C
39 usher syndrome type 2 10.1 CDH23 MYO7A PCDH15 USH1C
40 erythrokeratodermia variabilis et progressiva 1 10.1 GJB2 GJB3 GJB6
41 microcystic meningioma 10.1 CDH17 GJB2
42 clouston syndrome 10.1 GJB2 GJB3 GJB6
43 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.1 GJB2 GJB3
44 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
45 dfnb1 10.0 GJB2 GJB6 MYO7A PCDH15
46 vestibular disease 10.0 GJB2 GJB3 GJB6 SLC26A4
47 bardet-biedl syndrome 9.9 CDH23 MYO7A PCDH15 USH1C
48 deafness, autosomal dominant 13 9.9 GJB2 MYO7A SLC26A4 WFS1
49 deafness, autosomal dominant 2a 9.8 GJB2 GJB6 PCDH15 WFS1
50 hodgkin's lymphoma, nodular sclerosis 9.8 GJB2 GJB3 GJB6 MT-RNR1 SLC26A4

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:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of the eye 33 HP:0000478
2 prelingual sensorineural hearing impairment 33 HP:0000399

Symptoms via clinical synopsis from OMIM:

58
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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 ANK3 ATP2B2 CDH23 GJB6 GNAZ MYO7A
2 homeostasis/metabolism MP:0005376 9.97 ATP2B2 CDH23 GJB2 GJB3 GJB6 GNAZ
3 hearing/vestibular/ear MP:0005377 9.86 ATP2B2 CDH23 GJB2 GJB6 MYO7A PCDH15
4 nervous system MP:0003631 9.7 ANK3 ATP2B2 CDH23 GJB2 GJB6 GNAZ
5 vision/eye MP:0005391 9.17 CDH23 GJB2 MYO7A PCBD1 PCDH15 TFAM

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 30 ATP2B2 CDH23

Anatomical Context for Deafness, Autosomal Recessive 12

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

42
Brain, Eye, Pituitary

Publications for Deafness, Autosomal Recessive 12

Articles related to Deafness, Autosomal Recessive 12:

(show all 17)
# Title Authors Year
1
Recurrence of reported CDH23 mutations causing DFNB12 in a special cohort of South Indian hearing impaired assortative mating families - an evaluation. ( 29148562 )
2018
2
Analysis of protein-coding genetic variation in 60,706 humans. ( 27535533 )
2016
3
Clinical utility gene card for: Usher syndrome. ( 21697857 )
2011
4
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes. ( 21940737 )
2011
5
Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F. ( 19375528 )
2009
6
A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells. ( 19270079 )
2009
7
Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss. ( 17850630 )
2007
8
Modification of human hearing loss by plasma-membrane calcium pump PMCA2. ( 15829536 )
2005
9
Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12). ( 15353998 )
2004
10
Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss. ( 12910270 )
2003
11
Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family. ( 12522556 )
2003
12
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. ( 12075507 )
2002
13
Clinical presentation of DFNB12 and Usher syndrome type 1D. ( 12408077 )
2002
14
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. ( 11090341 )
2001
15
DFNB9 and DFNB12. ( 10868229 )
2000
16
Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22. ( 8817348 )
1996
17
Autosomal recessive nonsyndromal profound childhood deafness in a large pedigree. Audiometric features of the affected persons and the obligate carriers. ( 2706105 )
1989

Variations for Deafness, Autosomal Recessive 12

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

76 (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
30 CDH23 p.Asn2287Lys VAR_071425
31 CDH23 p.Glu2438Lys VAR_071426 rs126431078

ClinVar genetic disease variations for Deafness, Autosomal Recessive 12:

6 (show top 50) (show all 116)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDH23 NM_022124.5(CDH23): c.5237G> A (p.Arg1746Gln) single nucleotide variant Pathogenic rs111033270 GRCh37 Chromosome 10, 73539073: 73539073
2 CDH23 NM_022124.5(CDH23): c.5237G> A (p.Arg1746Gln) single nucleotide variant Pathogenic rs111033270 GRCh38 Chromosome 10, 71779316: 71779316
3 CDH23 NM_022124.5(CDH23): c.6133G> A (p.Asp2045Asn) single nucleotide variant Pathogenic rs121908348 GRCh37 Chromosome 10, 73550972: 73550972
4 CDH23 NM_022124.5(CDH23): c.6133G> A (p.Asp2045Asn) single nucleotide variant Pathogenic rs121908348 GRCh38 Chromosome 10, 71791215: 71791215
5 CDH23 NM_022124.5(CDH23): c.6604G> A (p.Asp2202Asn) single nucleotide variant Pathogenic rs121908349 GRCh37 Chromosome 10, 73553289: 73553289
6 CDH23 NM_022124.5(CDH23): c.6604G> A (p.Asp2202Asn) single nucleotide variant Pathogenic rs121908349 GRCh38 Chromosome 10, 71793532: 71793532
7 CDH23 NM_022124.5(CDH23): c.6442G> A (p.Asp2148Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs111033271 GRCh37 Chromosome 10, 73553127: 73553127
8 CDH23 NM_022124.5(CDH23): c.6442G> A (p.Asp2148Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs111033271 GRCh38 Chromosome 10, 71793370: 71793370
9 CDH23 NM_022124.5(CDH23): c.4021G> A (p.Asp1341Asn) single nucleotide variant Likely pathogenic rs121908351 GRCh37 Chromosome 10, 73492049: 73492049
10 CDH23 NM_022124.5(CDH23): c.4021G> A (p.Asp1341Asn) single nucleotide variant Likely pathogenic rs121908351 GRCh38 Chromosome 10, 71732292: 71732292
11 CDH23 NM_022124.5(CDH23): c.5663T> C (p.Phe1888Ser) single nucleotide variant Pathogenic rs121908352 GRCh37 Chromosome 10, 73544808: 73544808
12 CDH23 NM_022124.5(CDH23): c.5663T> C (p.Phe1888Ser) single nucleotide variant Pathogenic rs121908352 GRCh38 Chromosome 10, 71785051: 71785051
13 CDH23 NM_022124.5(CDH23): c.719C> T (p.Pro240Leu) single nucleotide variant Pathogenic rs121908354 GRCh37 Chromosome 10, 73330641: 73330641
14 CDH23 NM_022124.5(CDH23): c.719C> T (p.Pro240Leu) single nucleotide variant Pathogenic rs121908354 GRCh38 Chromosome 10, 71570884: 71570884
15 CDH23 NM_022124.5(CDH23): c.902G> A (p.Arg301Gln) single nucleotide variant Uncertain significance rs121908355 GRCh37 Chromosome 10, 73375330: 73375330
16 CDH23 NM_022124.5(CDH23): c.902G> A (p.Arg301Gln) single nucleotide variant Uncertain significance rs121908355 GRCh38 Chromosome 10, 71615573: 71615573
17 ATP2B2 NM_001001331.2(ATP2B2): c.1891G> A (p.Val631Met) single nucleotide variant risk factor rs61736451 GRCh37 Chromosome 3, 10401576: 10401576
18 ATP2B2 NM_001001331.2(ATP2B2): c.1891G> A (p.Val631Met) single nucleotide variant risk factor rs61736451 GRCh38 Chromosome 3, 10359892: 10359892
19 CDH23 NM_022124.5(CDH23): c.2263C> T (p.His755Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs181255269 GRCh37 Chromosome 10, 73453990: 73453990
20 CDH23 NM_022124.5(CDH23): c.2263C> T (p.His755Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs181255269 GRCh38 Chromosome 10, 71694233: 71694233
21 CDH23 NM_022124.5(CDH23): c.3262G> A (p.Val1088Met) single nucleotide variant Uncertain significance rs200632520 GRCh37 Chromosome 10, 73472463: 73472463
22 CDH23 NM_022124.5(CDH23): c.3262G> A (p.Val1088Met) single nucleotide variant Uncertain significance rs200632520 GRCh38 Chromosome 10, 71712706: 71712706
23 CDH23 NM_022124.5(CDH23): c.3986G> A (p.Gly1329Asp) single nucleotide variant Uncertain significance rs201877610 GRCh37 Chromosome 10, 73492014: 73492014
24 CDH23 NM_022124.5(CDH23): c.3986G> A (p.Gly1329Asp) single nucleotide variant Uncertain significance rs201877610 GRCh38 Chromosome 10, 71732257: 71732257
25 CDH23 NM_022124.5(CDH23): c.4309C> T (p.Arg1437Ter) single nucleotide variant Pathogenic rs397517329 GRCh37 Chromosome 10, 73498354: 73498354
26 CDH23 NM_022124.5(CDH23): c.4309C> T (p.Arg1437Ter) single nucleotide variant Pathogenic rs397517329 GRCh38 Chromosome 10, 71738597: 71738597
27 CDH23 NM_022124.5(CDH23): c.4391C> T (p.Ala1464Val) single nucleotide variant Uncertain significance rs374362883 GRCh37 Chromosome 10, 73499432: 73499432
28 CDH23 NM_022124.5(CDH23): c.4391C> T (p.Ala1464Val) single nucleotide variant Uncertain significance rs374362883 GRCh38 Chromosome 10, 71739675: 71739675
29 CDH23 NM_022124.5(CDH23): c.5410C> T (p.Arg1804Trp) single nucleotide variant Uncertain significance rs376271562 GRCh37 Chromosome 10, 73544085: 73544085
30 CDH23 NM_022124.5(CDH23): c.5410C> T (p.Arg1804Trp) single nucleotide variant Uncertain significance rs376271562 GRCh38 Chromosome 10, 71784328: 71784328
31 CDH23 NM_022124.5(CDH23): c.6049G> A (p.Gly2017Ser) single nucleotide variant Likely pathogenic rs183431253 GRCh37 Chromosome 10, 73550170: 73550170
32 CDH23 NM_022124.5(CDH23): c.6049G> A (p.Gly2017Ser) single nucleotide variant Likely pathogenic rs183431253 GRCh38 Chromosome 10, 71790413: 71790413
33 CDH23 NM_022124.5(CDH23): c.6050-9G> A single nucleotide variant Pathogenic rs367928692 GRCh37 Chromosome 10, 73550880: 73550880
34 CDH23 NM_022124.5(CDH23): c.6050-9G> A single nucleotide variant Pathogenic rs367928692 GRCh38 Chromosome 10, 71791123: 71791123
35 CDH23 NM_022124.5(CDH23): c.6911G> A (p.Arg2304Gln) single nucleotide variant Uncertain significance rs201434373 GRCh37 Chromosome 10, 73558192: 73558192
36 CDH23 NM_022124.5(CDH23): c.6911G> A (p.Arg2304Gln) single nucleotide variant Uncertain significance rs201434373 GRCh38 Chromosome 10, 71798435: 71798435
37 CDH23 NM_022124.5(CDH23): c.7468G> A (p.Glu2490Lys) single nucleotide variant Uncertain significance rs41281336 GRCh37 Chromosome 10, 73560498: 73560498
38 CDH23 NM_022124.5(CDH23): c.7468G> A (p.Glu2490Lys) single nucleotide variant Uncertain significance rs41281336 GRCh38 Chromosome 10, 71800741: 71800741
39 CDH23 NM_022124.5(CDH23): c.9569C> T (p.Ala3190Val) single nucleotide variant Uncertain significance rs111033536 GRCh37 Chromosome 10, 73572583: 73572583
40 CDH23 NM_022124.5(CDH23): c.9569C> T (p.Ala3190Val) single nucleotide variant Uncertain significance rs111033536 GRCh38 Chromosome 10, 71812826: 71812826
41 CDH23 NM_022124.5(CDH23): c.7049C> T (p.Ser2350Leu) single nucleotide variant Uncertain significance rs371522435 GRCh37 Chromosome 10, 73558330: 73558330
42 CDH23 NM_022124.5(CDH23): c.7049C> T (p.Ser2350Leu) single nucleotide variant Uncertain significance rs371522435 GRCh38 Chromosome 10, 71798573: 71798573
43 CDH23 NM_022124.5(CDH23): c.2236G> A (p.Val746Ile) single nucleotide variant Uncertain significance rs550384315 GRCh37 Chromosome 10, 73453963: 73453963
44 CDH23 NM_022124.5(CDH23): c.2236G> A (p.Val746Ile) single nucleotide variant Uncertain significance rs550384315 GRCh38 Chromosome 10, 71694206: 71694206
45 CDH23 NM_022124.5(CDH23): c.7517G> A (p.Arg2506Gln) single nucleotide variant Uncertain significance rs727502932 GRCh37 Chromosome 10, 73562689: 73562689
46 CDH23 NM_022124.5(CDH23): c.7517G> A (p.Arg2506Gln) single nucleotide variant Uncertain significance rs727502932 GRCh38 Chromosome 10, 71802932: 71802932
47 CDH23 NM_022124.5(CDH23): c.4000C> T (p.Arg1334Trp) single nucleotide variant Uncertain significance rs373276722 GRCh38 Chromosome 10, 71732271: 71732271
48 CDH23 NM_022124.5(CDH23): c.4000C> T (p.Arg1334Trp) single nucleotide variant Uncertain significance rs373276722 GRCh37 Chromosome 10, 73492028: 73492028
49 CDH23 NM_022124.5(CDH23): c.3022G> A (p.Val1008Met) single nucleotide variant Uncertain significance rs201053044 GRCh37 Chromosome 10, 73466722: 73466722
50 CDH23 NM_022124.5(CDH23): c.3022G> A (p.Val1008Met) single nucleotide variant Uncertain significance rs201053044 GRCh38 Chromosome 10, 71706965: 71706965

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 cell junction GO:0030054 9.8 ANK3 ATP2B2 CDH17 GJB2 GJB3 GJB6
2 synapse GO:0045202 9.77 ANK3 ATP2B2 MYO7A PCDH15 USH1C
3 photoreceptor outer segment GO:0001750 9.43 MYO7A PCDH15 USH1C
4 gap junction GO:0005921 9.33 GJB2 GJB3 GJB6
5 connexin complex GO:0005922 9.13 GJB2 GJB3 GJB6
6 stereocilium GO:0032420 8.92 CDH23 MYO7A PCDH15 USH1C

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.76 CDH23 MYO7A PCDH15 WFS1
2 inner ear development GO:0048839 9.67 GJB2 GJB6 MYO7A PCDH15
3 cell communication GO:0007154 9.61 GJB2 GJB3 GJB6
4 photoreceptor cell maintenance GO:0045494 9.58 CDH23 PCDH15 USH1C
5 inner ear receptor cell stereocilium organization GO:0060122 9.56 CDH23 MYO7A PCDH15 USH1C
6 inner ear auditory receptor cell differentiation GO:0042491 9.5 MYO7A PCDH15 USH1C
7 auditory receptor cell stereocilium organization GO:0060088 9.48 MYO7A PCDH15
8 sensory perception of light stimulus GO:0050953 9.46 CDH23 MYO7A PCDH15 USH1C
9 sensory perception of sound GO:0007605 9.28 ATP2B2 CDH23 GJB2 GJB6 MYO7A PCDH15
10 equilibrioception GO:0050957 9.26 CDH23 MYO7A PCDH15 USH1C

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

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 8.96 GJB2 GJB3
2 spectrin binding GO:0030507 8.8 ANK3 MYO7A USH1C

Sources for Deafness, Autosomal Recessive 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
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45 MeSH
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47 MGI
50 NCI
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55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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