MCID: DFN141
MIFTS: 44

Deafness, Autosomal Recessive 12

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

Aliases & Classifications for Deafness, Autosomal Recessive 12

MalaCards integrated aliases for Deafness, Autosomal Recessive 12:

Name: Deafness, Autosomal Recessive 12 53 28 13 69
Dfnb12 53 12 71
Autosomal Recessive Nonsyndromic Deafness 12 12 14
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12 71
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12 71
Congenital Neurosensory Deafness Autosomal Recessive 12 71
Deafness, Autosomal Recessive 12, Modifier of 53
Deafness, Autosomal Recessive, 12 71
Autosomal Recessive Deafness 12 12

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
allelic to usher syndrome, type id


HPO:

31
deafness, autosomal recessive 12:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 601386
Disease Ontology 12 DOID:0110467
ICD10 32 H90.3
MedGen 39 C1832394
MeSH 41 D006319
UMLS 69 C1832394

Summaries for Deafness, Autosomal Recessive 12

UniProtKB/Swiss-Prot : 71 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 usher syndrome and usher syndrome, type id, and has symptoms including prelingual sensorineural hearing impairment and abnormality of the eye. 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 and eye, and related phenotypes are behavior/neurological and homeostasis/metabolism

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 32 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 Recessive 105 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 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86

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

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 usher syndrome 30.1 CDH23 GJB2 MYO7A PCDH15 USH1C
2 usher syndrome, type id 30.0 CDH23 MYO7A PCDH15 USH1C
3 nonsyndromic deafness 27.5 CDH23 GJB2 GJB3 GJB6 MT-RNR1 MYO7A
4 deafness, autosomal recessive 3 10.5 GJB2 MYO7A
5 hypotrichosis-deafness syndrome 10.4 GJB2 GJB3
6 deafness, autosomal recessive 1b 10.4 GJB2 GJB6
7 usher syndrome, type ig 10.4 CDH23 MYO7A PCDH15
8 deafness, autosomal recessive 93 10.4 GJB2 GJB3
9 deafness, autosomal dominant 24 10.4 GJB2 GJB6
10 deafness, autosomal recessive 26 10.4 CDH23 GJB2 SLC26A4
11 deafness, autosomal recessive 7 10.4 GJB2 MT-RNR1
12 deafness, autosomal recessive 28 10.3 GJB2 GJB3
13 deafness, x-linked 2 10.3 GJB2 GJB6
14 autosomal recessive nonsyndromic deafness 10.3 CDH23 GJB2 SLC26A4
15 knuckle pads, leukonychia, and sensorineural deafness 10.3 GJB2 GJB6
16 deafness, autosomal recessive 85 10.3 CDH23 MYO7A SLC26A4
17 deafness, autosomal recessive 83 10.3 CDH23 MYO7A SLC26A4
18 deafness, autosomal recessive 2 10.3 GJB2 MYO7A
19 usher syndrome, type ic 10.3 CDH23 MYO7A USH1C
20 deafness, autosomal dominant 36 10.3 GJB2 MT-RNR1 SLC26A4
21 vohwinkel syndrome 10.3 GJB2 GJB6
22 deafness, autosomal recessive 33 10.2 GJB2 PCDH15
23 congenital cytomegalovirus 10.2 GJB2 GJB6 MT-RNR1
24 autosomal recessive nonsyndromic deafness 3 10.2 CDH23 GJB2 MYO7A SLC26A4
25 kid syndrome 10.2 GJB2 GJB3 GJB6
26 pseudoainhum 10.2 GJB2 GJB3 GJB6
27 deafness, autosomal recessive 1a 10.1 GJB2 GJB3 GJB6
28 branchiootic syndrome 1 10.1
29 deafness, autosomal recessive 30 10.1 GJB2 MT-RNR1 MYO7A SLC26A4
30 usher syndrome, type if 10.1 CDH23 MYO7A PCDH15 USH1C
31 knuckle pads 10.1 GJB2 GJB3 GJB6
32 retinal disease 10.1 MYO7A PCDH15 USH1C
33 usher syndrome, type iid 10.1 CDH23 MYO7A PCDH15 USH1C
34 usher syndrome, type iiia 10.1 CDH23 MYO7A PCDH15 USH1C
35 microcystic meningioma 10.1 CDH17 GJB2
36 erythrokeratodermia variabilis et progressiva 1 10.1 GJB2 GJB3 GJB6
37 usher syndrome type 2 10.1 CDH23 MYO7A PCDH15 USH1C
38 clouston syndrome 10.1 GJB2 GJB3 GJB6
39 usher syndrome, type i 10.1 CDH23 MYO7A PCDH15 USH1C
40 retinitis pigmentosa-deafness syndrome 10.1
41 dfnb1 10.1 GJB2 GJB6 MYO7A PCDH15
42 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.1 GJB2 GJB3
43 autosomal dominant nonsyndromic deafness 10.0 GJB2 MYO7A WFS1
44 bardet-biedl syndrome 10.0 CDH23 MYO7A PCDH15 USH1C
45 autosomal genetic disease 10.0 MYO7A SLC26A4 WFS1
46 skin disease 10.0 GJB2 GJB3 GJB6
47 vestibular disease 10.0 GJB2 GJB3 GJB6 SLC26A4
48 non-syndromic genetic deafness 9.9 GJB2 GJB6
49 deafness, autosomal dominant 13 9.9 GJB2 MYO7A SLC26A4 WFS1
50 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8

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

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
hearing loss, profound prelingual sensorineural

Head And Neck Eyes:
no retinitis pigmentosa


Clinical features from OMIM:

601386

Human phenotypes related to Deafness, Autosomal Recessive 12:

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

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 12:

43
# 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 GJB6 MYO7A PCDH15 SLC26A4 USH1C ATP2B2
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 28 ATP2B2 CDH23

Anatomical Context for Deafness, Autosomal Recessive 12

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

38
Brain, Eye

Publications for Deafness, Autosomal Recessive 12

Articles related to Deafness, Autosomal Recessive 12:

# Title Authors Year
1
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes. ( 21940737 )
2011
2
A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells. ( 19270079 )
2009
3
Clinical presentation of DFNB12 and Usher syndrome type 1D. ( 12408077 )
2002
4
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. ( 11090341 )
2001
5
Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22. ( 8817348 )
1996

Variations for Deafness, Autosomal Recessive 12

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

71 (show all 31)
# Symbol AA change Variation ID SNP ID
1 CDH23 p.Asp990Asn VAR_012169
2 CDH23 p.Asp2045Asn VAR_012182
3 CDH23 p.Asp2202Asn VAR_012183
4 CDH23 p.Ile2950Asn VAR_012187
5 CDH23 p.Arg2956Cys VAR_012188
6 CDH23 p.Pro3059Thr VAR_012189
7 CDH23 p.Asp124Gly VAR_027317
8 CDH23 p.Asn452Ser VAR_027319
9 CDH23 p.Leu480Gln VAR_027320
10 CDH23 p.Arg582Gln VAR_027322
11 CDH23 p.Arg1060Trp VAR_027323
12 CDH23 p.Gly1186Asp VAR_027324
13 CDH23 p.Asp1341Asn VAR_027326
14 CDH23 p.Ala1586Pro VAR_027328
15 CDH23 p.Glu1595Lys VAR_027329
16 CDH23 p.Asp1846Asn VAR_027331
17 CDH23 p.Phe1888Ser VAR_027333
18 CDH23 p.Asp2148Asn VAR_027336
19 CDH23 p.Arg2465Trp VAR_027339
20 CDH23 p.Arg2608His VAR_027341
21 CDH23 p.Pro240Leu VAR_046404 rs121908354
22 CDH23 p.Arg301Gln VAR_046405
23 CDH23 p.Arg1417Trp VAR_046414
24 CDH23 p.Gln1716Pro VAR_046418
25 CDH23 p.Arg2029Trp VAR_046425
26 CDH23 p.Asn342Ser VAR_071408
27 CDH23 p.Glu956Lys VAR_071413
28 CDH23 p.Thr1368Met VAR_071418
29 CDH23 p.Asp1626Ala VAR_071422
30 CDH23 p.Asn2287Lys VAR_071425
31 CDH23 p.Glu2438Lys VAR_071426

ClinVar genetic disease variations for Deafness, Autosomal Recessive 12:

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDH23 NM_022124.5(CDH23): c.1246_1266del21 (p.Ala416_Glu422del) deletion Likely pathogenic rs397517305 GRCh37 Chromosome 10, 73405693: 73405713
2 CDH23 NM_022124.5(CDH23): c.6133G> A (p.Asp2045Asn) single nucleotide variant Pathogenic rs121908348 GRCh37 Chromosome 10, 73550972: 73550972
3 CDH23 NM_022124.5(CDH23): c.6604G> A (p.Asp2202Asn) single nucleotide variant Pathogenic rs121908349 GRCh37 Chromosome 10, 73553289: 73553289
4 CDH23 NM_022124.5(CDH23): c.4021G> A (p.Asp1341Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121908351 GRCh37 Chromosome 10, 73492049: 73492049
5 CDH23 NM_022124.5(CDH23): c.5663T> C (p.Phe1888Ser) single nucleotide variant Pathogenic rs121908352 GRCh37 Chromosome 10, 73544808: 73544808
6 CDH23 NM_022124.5(CDH23): c.719C> T (p.Pro240Leu) single nucleotide variant Pathogenic rs121908354 GRCh37 Chromosome 10, 73330641: 73330641
7 GJB2 NM_004004.5(GJB2): c.400T> C (p.Trp134Arg) single nucleotide variant Pathogenic rs878853241 GRCh37 Chromosome 13, 20763321: 20763321
8 CDH23 NM_022124.5(CDH23): c.478G> A (p.Asp160Asn) single nucleotide variant Likely pathogenic rs1057519500 GRCh37 Chromosome 10, 73326547: 73326547
9 CDH23 NM_001171932.1(CDH23): c.683A> T (p.Asp228Val) single nucleotide variant Pathogenic rs1060499788 GRCh38 Chromosome 10, 71570848: 71570848
10 CDH23 NM_001171932.1(CDH23): c.1036C> T (p.Pro346Ser) single nucleotide variant Pathogenic rs1060499791 GRCh37 Chromosome 10, 73377052: 73377052
11 CDH23 NM_001171932.1(CDH23): c.1037C> T (p.Pro346Leu) single nucleotide variant Pathogenic rs778251205 GRCh38 Chromosome 10, 71617296: 71617296
12 CDH23 NG_008835.1: g.285670C> T single nucleotide variant Pathogenic rs1060499792 GRCh37 Chromosome 10, 73437373: 73437373
13 CDH23 NM_022124.5(CDH23): c.3181G> A (p.Glu1061Lys) single nucleotide variant Pathogenic rs1060499793 GRCh37 Chromosome 10, 73468929: 73468929
14 CDH23 NM_022124.5(CDH23): c.5749G> A (p.Glu1917Lys) single nucleotide variant Pathogenic rs1060499789 GRCh38 Chromosome 10, 71785667: 71785667
15 CDH23 NM_022124.5(CDH23): c.8204T> C (p.Leu2735Pro) single nucleotide variant Pathogenic rs1060499790 GRCh38 Chromosome 10, 71807302: 71807302
16 CDH23 NM_022124.5(CDH23): c.2132_2136delACTCC (p.Tyr711Phefs) deletion Pathogenic GRCh38 Chromosome 10, 71690540: 71690544
17 CDH23 NM_022124.5(CDH23): c.1934A> G (p.Asp645Gly) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 71682520: 71682520
18 CDH23 NM_022124.5(CDH23): c.4877A> C (p.Asp1626Ala) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 71777711: 71777711
19 CDH23 NM_022124.5(CDH23): c.5147A> C (p.Gln1716Pro) single nucleotide variant Pathogenic rs758382198 GRCh37 Chromosome 10, 73538025: 73538025
20 CDH23 NM_022124.5(CDH23): c.6085C> T (p.Arg2029Trp) single nucleotide variant Pathogenic rs750880909 GRCh37 Chromosome 10, 73550924: 73550924
21 CDH23 NM_022124.5(CDH23): c.6667delC (p.Leu2223Trpfs) deletion Pathogenic GRCh37 Chromosome 10, 73553352: 73553352
22 CDH23 NM_022124.5(CDH23): c.6712+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 10, 73553398: 73553398
23 CDH23 NM_022124.5(CDH23): c.7312G> A (p.Glu2438Lys) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 73559336: 73559336
24 CDH23 NM_022124.5(CDH23): c.9129delG (p.Asn3044Thrfs) deletion Pathogenic GRCh37 Chromosome 10, 73571123: 73571123

Expression for Deafness, Autosomal Recessive 12

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

Pathways for Deafness, Autosomal Recessive 12

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

# Super pathways Score Top Affiliating Genes
1 11.65 CDH17 CDH23 GNAZ TFAM
2
Show member pathways
11.51 ATP2B2 GJB2 GJB3 GJB6 GNAZ
3
Show member pathways
11.32 GJB2 GJB3 GJB6

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
16 ExPASy
18 FMA
27 GO
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29 HGMD
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