DFNB23
MCID: DFN093
MIFTS: 37

Deafness, Autosomal Recessive 23 (DFNB23)

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

Aliases & Classifications for Deafness, Autosomal Recessive 23

MalaCards integrated aliases for Deafness, Autosomal Recessive 23:

Name: Deafness, Autosomal Recessive 23 58 30 13 6 74
Dfnb23 58 12 76
Autosomal Recessive Nonsyndromic Deafness 23 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 23 76
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 23 76
Deafness, Autosomal Recessive, Type 23 41
Deafness, Autosomal Recessive, 23 76
Autosomal Recessive Deafness 23 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset
allelic disorder to usher syndrome type 1f


HPO:

33
deafness, autosomal recessive 23:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110481
OMIM 58 609533
MeSH 45 D006319
ICD10 34 H90.3
MedGen 43 C1836027
SNOMED-CT via HPO 70 258211005 60700002
UMLS 74 C1836027

Summaries for Deafness, Autosomal Recessive 23

UniProtKB/Swiss-Prot : 76 Deafness, autosomal recessive, 23: 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 23, also known as dfnb23, is related to retinitis pigmentosa-deafness syndrome and usher syndrome, type if. An important gene associated with Deafness, Autosomal Recessive 23 is PCDH15 (Protocadherin Related 15). Affiliated tissues include brain and eye, and related phenotypes are sensorineural hearing impairment and hearing/vestibular/ear

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 PCDH15 gene on chromosome 10q21.

Description from OMIM: 609533

Related Diseases for Deafness, Autosomal Recessive 23

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 23 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa-deafness syndrome 30.2 CDH23 MYO7A PCDH15
2 usher syndrome, type if 30.2 CDH23 MYO7A PCDH15
3 usher syndrome 29.8 CDH23 GJB2 MYO7A PCDH15
4 nonsyndromic deafness 28.6 CDH23 GJB2 GJB6 MYO7A PCDH15 SLC26A4
5 deafness, autosomal recessive 2 10.2 GJB2 MYO7A
6 deafness, autosomal recessive 3 10.2 GJB2 MYO7A
7 deafness, autosomal recessive 33 10.1 GJB2 PCDH15
8 deafness, autosomal recessive 6 10.1 GJB2 MYO7A
9 usher syndrome, type ic 10.1 CDH23 MYO7A
10 microcystic meningioma 10.1 CDH17 GJB2
11 deafness, autosomal dominant 36 10.1 GJB2 SLC26A4
12 usher syndrome, type i 10.1 CDH23 MYO7A PCDH15
13 usher syndrome, type ig 10.0 CDH23 MYO7A PCDH15
14 usher syndrome, type id 10.0 CDH23 MYO7A PCDH15
15 ear malformation 10.0 GJB2 SLC26A4
16 usher syndrome, type iid 10.0 CDH23 MYO7A PCDH15
17 usher syndrome, type iiia 10.0 CDH23 MYO7A PCDH15
18 usher syndrome type 2 10.0 CDH23 MYO7A PCDH15
19 drug-induced hearing loss 10.0 GJB2 SLC26A4
20 deafness, autosomal recessive 85 9.9 CDH23 MYO7A SLC26A4
21 deafness, autosomal recessive 83 9.9 CDH23 MYO7A SLC26A4
22 deafness, autosomal dominant 24 9.9 GJB2 GJB6
23 kid syndrome 9.9 GJB2 GJB6
24 pseudoainhum 9.9 GJB2 GJB6
25 knuckle pads 9.9 GJB2 GJB6
26 autosomal recessive nonsyndromic deafness 9.9 CDH23 GJB2 SLC26A4
27 knuckle pads, leukonychia, and sensorineural deafness 9.9 GJB2 GJB6
28 deafness, x-linked 2 9.9 GJB2 GJB6
29 vohwinkel syndrome 9.9 GJB2 GJB6
30 deafness, autosomal recessive 30 9.9 GJB2 MYO7A SLC26A4
31 pendred syndrome 9.9 GJB2 SLC26A4
32 deafness, autosomal dominant 13 9.9 GJB2 MYO7A SLC26A4
33 deafness, autosomal recessive 26 9.9 CDH23 GJB2 SLC26A4
34 deafness, autosomal recessive 1a 9.9 GJB2 GJB6
35 congenital cytomegalovirus 9.9 GJB2 GJB6
36 bardet-biedl syndrome 9.9 CDH23 MYO7A PCDH15
37 erythrokeratodermia variabilis et progressiva 1 9.8 GJB2 GJB6
38 clouston syndrome 9.8 GJB2 GJB6
39 deafness, autosomal recessive 12 9.8 CDH23 GJB2 MYO7A PCDH15
40 retinitis pigmentosa 9.8 CDH23 GJB2 MYO7A PCDH15
41 autosomal genetic disease 9.8 MYO7A SLC26A4
42 usher syndrome, type iic 9.7 CDH17 CDH23 MYO7A PCDH15
43 keratitis, hereditary 9.7 GJB2 GJB6
44 deafness, autosomal dominant 2a 9.7 GJB2 GJB6 PCDH15
45 autosomal recessive nonsyndromic deafness 3 9.7 CDH23 GJB2 MYO7A SLC26A4
46 deafness, autosomal dominant 6 9.7 CDH23 GJB2 MYO7A SLC26A4
47 branchiootic syndrome 1 9.7 CDH23 GJB2 MYO7A SLC26A4
48 corneal disease 9.7 GJB2 GJB6
49 hodgkin's lymphoma, nodular sclerosis 9.7 GJB2 GJB6 SLC26A4
50 vestibular disease 9.6 GJB2 GJB6 SLC26A4

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 23:



Diseases related to Deafness, Autosomal Recessive 23

Symptoms & Phenotypes for Deafness, Autosomal Recessive 23

Human phenotypes related to Deafness, Autosomal Recessive 23:

33
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 33 HP:0000407

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
normal vision

Head And Neck Ears:
deafness, neurosensory
severe to profound deafness

Clinical features from OMIM:

609533

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 23:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.43 CDH23 GJB2 GJB6 MYO7A PCDH15 SLC26A4
2 nervous system MP:0003631 9.1 CDH23 GJB2 GJB6 MYO7A PCDH15 SLC26A4

Drugs & Therapeutics for Deafness, Autosomal Recessive 23

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 23

Genetic Tests for Deafness, Autosomal Recessive 23

Genetic tests related to Deafness, Autosomal Recessive 23:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 23 30 PCDH15

Anatomical Context for Deafness, Autosomal Recessive 23

MalaCards organs/tissues related to Deafness, Autosomal Recessive 23:

42
Brain, Eye

Publications for Deafness, Autosomal Recessive 23

Articles related to Deafness, Autosomal Recessive 23:

# Title Authors Year
1
Novel mutation located in EC7 domain of protocadherin-15 uncovered by targeted massively parallel sequencing in a family segregating non-syndromic deafness DFNB23. ( 25930172 )
2015
2
Clinical utility gene card for: Usher syndrome. ( 21697857 )
2011
3
Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F. ( 19375528 )
2009
4
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15. ( 19107147 )
2009
5
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. ( 18719945 )
2008
6
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. ( 14570705 )
2003

Variations for Deafness, Autosomal Recessive 23

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 23:

76
# Symbol AA change Variation ID SNP ID
1 PCDH15 p.Arg134Gly VAR_024035 rs137853003
2 PCDH15 p.Gly262Asp VAR_024036 rs137853002

ClinVar genetic disease variations for Deafness, Autosomal Recessive 23:

6 (show all 38)
# Gene Variation Type Significance SNP ID Assembly Location
1 PCDH15 NM_033056.3(PCDH15): c.7C> T (p.Arg3Ter) single nucleotide variant Pathogenic/Likely pathogenic rs137853001 GRCh37 Chromosome 10, 56424016: 56424016
2 PCDH15 NM_033056.3(PCDH15): c.7C> T (p.Arg3Ter) single nucleotide variant Pathogenic/Likely pathogenic rs137853001 GRCh38 Chromosome 10, 54664256: 54664256
3 PCDH15 NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter) single nucleotide variant Pathogenic rs111033260 GRCh37 Chromosome 10, 56077174: 56077174
4 PCDH15 NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter) single nucleotide variant Pathogenic rs111033260 GRCh38 Chromosome 10, 54317414: 54317414
5 PCDH15 NM_033056.3(PCDH15): c.785G> A (p.Gly262Asp) single nucleotide variant Pathogenic rs137853002 GRCh37 Chromosome 10, 56077122: 56077122
6 PCDH15 NM_033056.3(PCDH15): c.785G> A (p.Gly262Asp) single nucleotide variant Pathogenic rs137853002 GRCh38 Chromosome 10, 54317362: 54317362
7 PCDH15 NM_033056.3(PCDH15): c.400C> G (p.Arg134Gly) single nucleotide variant Likely pathogenic rs137853003 GRCh37 Chromosome 10, 56128954: 56128954
8 PCDH15 NM_033056.3(PCDH15): c.400C> G (p.Arg134Gly) single nucleotide variant Likely pathogenic rs137853003 GRCh38 Chromosome 10, 54369194: 54369194
9 PCDH15 NM_033056.3(PCDH15): c.1583T> A (p.Val528Asp) single nucleotide variant Pathogenic rs267606932 GRCh37 Chromosome 10, 55943211: 55943211
10 PCDH15 NM_033056.3(PCDH15): c.1583T> A (p.Val528Asp) single nucleotide variant Pathogenic rs267606932 GRCh38 Chromosome 10, 54183451: 54183451
11 PCDH15 NM_033056.3(PCDH15): c.3316C> T (p.Arg1106Ter) single nucleotide variant Pathogenic/Likely pathogenic rs202033121 GRCh37 Chromosome 10, 55698632: 55698632
12 PCDH15 NM_033056.3(PCDH15): c.3316C> T (p.Arg1106Ter) single nucleotide variant Pathogenic/Likely pathogenic rs202033121 GRCh38 Chromosome 10, 53938872: 53938872
13 PCDH15 NM_033056.3(PCDH15): c.3817C> A (p.Arg1273Ser) single nucleotide variant Uncertain significance rs111033363 GRCh37 Chromosome 10, 55600246: 55600246
14 PCDH15 NM_033056.3(PCDH15): c.3817C> A (p.Arg1273Ser) single nucleotide variant Uncertain significance rs111033363 GRCh38 Chromosome 10, 53840486: 53840486
15 PCDH15 NM_033056.3(PCDH15): c.2367_2369delTGT (p.Val790del) deletion Conflicting interpretations of pathogenicity rs483352837 GRCh38 Chromosome 10, 54023049: 54023051
16 PCDH15 NM_033056.3(PCDH15): c.2367_2369delTGT (p.Val790del) deletion Conflicting interpretations of pathogenicity rs483352837 GRCh37 Chromosome 10, 55782809: 55782811
17 PCDH15 NM_033056.3(PCDH15): c.2102C> T (p.Ala701Val) single nucleotide variant Uncertain significance rs199537178 GRCh37 Chromosome 10, 55826635: 55826635
18 PCDH15 NM_033056.3(PCDH15): c.2102C> T (p.Ala701Val) single nucleotide variant Uncertain significance rs199537178 GRCh38 Chromosome 10, 54066875: 54066875
19 PCDH15 NM_033056.3(PCDH15): c.1205G> C (p.Gly402Ala) single nucleotide variant Uncertain significance rs145017164 GRCh37 Chromosome 10, 55955543: 55955543
20 PCDH15 NM_033056.3(PCDH15): c.1205G> C (p.Gly402Ala) single nucleotide variant Uncertain significance rs145017164 GRCh38 Chromosome 10, 54195783: 54195783
21 PCDH15 NM_033056.3(PCDH15): c.2581G> A (p.Val861Met) single nucleotide variant Uncertain significance rs142512524 GRCh37 Chromosome 10, 55780122: 55780122
22 PCDH15 NM_033056.3(PCDH15): c.2581G> A (p.Val861Met) single nucleotide variant Uncertain significance rs142512524 GRCh38 Chromosome 10, 54020362: 54020362
23 PCDH15 NM_033056.3(PCDH15): c.1900G> A (p.Val634Ile) single nucleotide variant Uncertain significance rs146199636 GRCh37 Chromosome 10, 55892652: 55892652
24 PCDH15 NM_033056.3(PCDH15): c.1900G> A (p.Val634Ile) single nucleotide variant Uncertain significance rs146199636 GRCh38 Chromosome 10, 54132892: 54132892
25 PCDH15 NM_033056.3(PCDH15): c.2785C> T (p.Arg929Ter) single nucleotide variant Likely pathogenic rs1057516342 GRCh37 Chromosome 10, 55755492: 55755492
26 PCDH15 NM_033056.3(PCDH15): c.2785C> T (p.Arg929Ter) single nucleotide variant Likely pathogenic rs1057516342 GRCh38 Chromosome 10, 53995732: 53995732
27 PCDH15 NM_001142769.2(PCDH15): c.4726C> T (p.Gln1576Ter) single nucleotide variant Pathogenic rs1056396947 GRCh37 Chromosome 10, 55569099: 55569099
28 PCDH15 NM_001142769.2(PCDH15): c.4726C> T (p.Gln1576Ter) single nucleotide variant Pathogenic rs1056396947 GRCh38 Chromosome 10, 53809339: 53809339
29 PCDH15 NM_033056.3(PCDH15): c.3857T> A (p.Val1286Glu) single nucleotide variant Uncertain significance rs375292203 GRCh37 Chromosome 10, 55600206: 55600206
30 PCDH15 NM_033056.3(PCDH15): c.3857T> A (p.Val1286Glu) single nucleotide variant Uncertain significance rs375292203 GRCh38 Chromosome 10, 53840446: 53840446
31 PCDH15 NM_033056.3(PCDH15): c.2869-1G> T single nucleotide variant Likely pathogenic rs1554883705 GRCh37 Chromosome 10, 55721653: 55721653
32 PCDH15 NM_033056.3(PCDH15): c.2869-1G> T single nucleotide variant Likely pathogenic rs1554883705 GRCh38 Chromosome 10, 53961893: 53961893
33 PCDH15 NM_001142770.2(PCDH15): c.788C> A (p.Pro263Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 56077119: 56077119
34 PCDH15 NM_001142770.2(PCDH15): c.788C> A (p.Pro263Gln) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 54317359: 54317359
35 PCDH15 NM_001142771.1(PCDH15): c.4816dup (p.Met1606Asnfs) duplication Likely pathogenic GRCh38 Chromosome 10, 53806812: 53806812
36 PCDH15 NM_001142771.1(PCDH15): c.4816dup (p.Met1606Asnfs) duplication Likely pathogenic GRCh37 Chromosome 10, 55566572: 55566572
37 PCDH15 NC_000010.11 deletion Pathogenic GRCh37 Chromosome 10, 55839185: 55912859
38 PCDH15 NC_000010.11 deletion Pathogenic GRCh38 Chromosome 10, 54079425: 54153099

Expression for Deafness, Autosomal Recessive 23

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 23.

Pathways for Deafness, Autosomal Recessive 23

GO Terms for Deafness, Autosomal Recessive 23

Cellular components related to Deafness, Autosomal Recessive 23 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.91 CD2 CDH17 CDH23 GJB2 GJB6 PCDH15
2 plasma membrane GO:0005886 9.8 CD2 CDH17 CDH23 GJB2 GJB6 PCDH15
3 apical plasma membrane GO:0016324 9.5 GJB6 MYO7A SLC26A4
4 photoreceptor outer segment GO:0001750 9.4 MYO7A PCDH15
5 gap junction GO:0005921 9.16 GJB2 GJB6
6 connexin complex GO:0005922 8.96 GJB2 GJB6
7 stereocilium GO:0032420 8.8 CDH23 MYO7A PCDH15

Biological processes related to Deafness, Autosomal Recessive 23 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.76 CD2 CDH17 CDH23 PCDH15
2 visual perception GO:0007601 9.65 CDH23 MYO7A PCDH15
3 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.61 CDH17 CDH23 PCDH15
4 locomotory behavior GO:0007626 9.54 CDH23 PCDH15
5 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules GO:0016339 9.52 CDH17 CDH23
6 cell communication GO:0007154 9.51 GJB2 GJB6
7 inner ear receptor cell stereocilium organization GO:0060122 9.5 CDH23 MYO7A PCDH15
8 photoreceptor cell maintenance GO:0045494 9.49 CDH23 PCDH15
9 inner ear development GO:0048839 9.46 GJB2 GJB6 MYO7A PCDH15
10 sensory perception of light stimulus GO:0050953 9.43 CDH23 MYO7A PCDH15
11 auditory receptor cell stereocilium organization GO:0060088 9.4 MYO7A PCDH15
12 inner ear auditory receptor cell differentiation GO:0042491 9.37 MYO7A PCDH15
13 equilibrioception GO:0050957 9.13 CDH23 MYO7A PCDH15
14 sensory perception of sound GO:0007605 9.1 CDH23 GJB2 GJB6 MYO7A PCDH15 SLC26A4

Sources for Deafness, Autosomal Recessive 23

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
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34 ICD10
35 ICD10 via Orphanet
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
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