DFNB12
MCID: DFN141
MIFTS: 38

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 57 29 13 6 73
Dfnb12 57 12 75
Deafness, Autosomal Recessive 12, Modifier of 57 6
Autosomal Recessive Nonsyndromic Deafness 12 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12 75
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12 75
Congenital Neurosensory Deafness Autosomal Recessive 12 75
Deafness, Autosomal Recessive, Type 12 40
Deafness, Autosomal Recessive, 12 75
Autosomal Recessive Deafness 12 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
allelic to usher syndrome, type id


HPO:

32
deafness, autosomal recessive 12:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 601386
Disease Ontology 12 DOID:0110467
ICD10 33 H90.3
MedGen 42 C1832394
MeSH 44 D006319
UMLS 73 C1832394

Summaries for Deafness, Autosomal Recessive 12

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Deafness, Autosomal Recessive 12 is CDH23 (Cadherin Related 23), and among its related pathways/superpathways is Platinum drug resistance. Affiliated tissues include brain and eye, 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
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 105 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 all 38)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa-deafness syndrome 30.3 CDH23 MYO7A PCDH15
2 usher syndrome 30.0 CDH23 GJB2 MYO7A PCDH15
3 usher syndrome, type id 29.9 CDH23 MYO7A PCDH15
4 nonsyndromic deafness 29.6 CDH23 GJB2 MYO7A PCDH15
5 autosomal recessive nonsyndromic deafness 10.1 CDH23 GJB2
6 deafness, autosomal recessive 2 10.1 GJB2 MYO7A
7 deafness, autosomal recessive 26 10.1 CDH23 GJB2
8 deafness, autosomal recessive 85 10.1 CDH23 MYO7A
9 deafness, autosomal recessive 83 10.1 CDH23 MYO7A
10 deafness, autosomal recessive 3 10.0 GJB2 MYO7A
11 deafness, autosomal recessive 33 10.0 GJB2 PCDH15
12 usher syndrome, type ic 10.0 CDH23 MYO7A
13 deafness, autosomal recessive 6 10.0 GJB2 MYO7A
14 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
15 deafness, autosomal recessive 30 10.0 GJB2 MYO7A
16 deafness, autosomal dominant 2a 10.0 GJB2 PCDH15
17 deafness, autosomal recessive 16 10.0 GJB2 MYO7A
18 autosomal recessive nonsyndromic deafness 3 10.0 CDH23 GJB2 MYO7A
19 deafness, autosomal dominant 13 9.9 GJB2 MYO7A
20 deafness, autosomal dominant 6 9.9 CDH23 GJB2 MYO7A
21 branchiootic syndrome 1 9.9 CDH23 GJB2 MYO7A
22 inner ear disease 9.9 CDH23 GJB2 MYO7A
23 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.9 CDH23 GJB2 MYO7A
24 usher syndrome, type i 9.9 CDH23 MYO7A PCDH15
25 usher syndrome, type ig 9.9 CDH23 MYO7A PCDH15
26 usher syndrome, type if 9.9 CDH23 MYO7A PCDH15
27 usher syndrome, type iid 9.9 CDH23 MYO7A PCDH15
28 usher syndrome, type iiia 9.9 CDH23 MYO7A PCDH15
29 usher syndrome, type iic 9.9 CDH23 MYO7A PCDH15
30 dfnb1 9.9 GJB2 MYO7A PCDH15
31 usher syndrome type 2 9.9 CDH23 MYO7A PCDH15
32 autosomal dominant nonsyndromic deafness 9.8 GJB2 MYO7A
33 deafness, autosomal recessive 23 9.8 CDH23 GJB2 MYO7A PCDH15
34 auditory system disease 9.8 CDH23 GJB2 MYO7A PCDH15
35 retinitis pigmentosa 9.8 CDH23 GJB2 MYO7A PCDH15
36 sensorineural hearing loss 9.7 CDH23 GJB2 MYO7A PCDH15
37 bardet-biedl syndrome 9.7 CDH23 MYO7A PCDH15
38 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.6 ATP2B2 CDH23 GJB2 MYO7A PCDH15

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:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the eye 32 HP:0000478
2 prelingual sensorineural hearing impairment 32 HP:0000399

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 12:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.35 ATP2B2 CDH23 GJB2 MYO7A PCDH15
2 vision/eye MP:0005391 9.02 CDH23 GJB2 MYO7A PCBD1 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

Anatomical Context for Deafness, Autosomal Recessive 12

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

41
Brain, Eye

Publications for Deafness, Autosomal Recessive 12

Articles related to Deafness, Autosomal Recessive 12:

# 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
DFNB9 and DFNB12. ( 10868229 )
2000

Variations for Deafness, Autosomal Recessive 12

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

75 (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
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
9 CDH23 p.Leu480Gln VAR_027320 rs767928788
10 CDH23 p.Arg582Gln VAR_027322
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
15 CDH23 p.Glu1595Lys VAR_027329
16 CDH23 p.Asp1846Asn VAR_027331 rs746323558
17 CDH23 p.Phe1888Ser VAR_027333 rs121908352
18 CDH23 p.Asp2148Asn VAR_027336
19 CDH23 p.Arg2465Trp VAR_027339
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
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 top 50) (show all 68)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDH23 NM_022124.5(CDH23): c.6133G> A (p.Asp2045Asn) single nucleotide variant Pathogenic rs121908348 GRCh37 Chromosome 10, 73550972: 73550972
2 CDH23 NM_022124.5(CDH23): c.6133G> A (p.Asp2045Asn) single nucleotide variant Pathogenic rs121908348 GRCh38 Chromosome 10, 71791215: 71791215
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.6604G> A (p.Asp2202Asn) single nucleotide variant Pathogenic rs121908349 GRCh38 Chromosome 10, 71793532: 71793532
5 CDH23 NM_022124.5(CDH23): c.6442G> A (p.Asp2148Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs111033271 GRCh37 Chromosome 10, 73553127: 73553127
6 CDH23 NM_022124.5(CDH23): c.6442G> A (p.Asp2148Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs111033271 GRCh38 Chromosome 10, 71793370: 71793370
7 CDH23 NM_022124.5(CDH23): c.4021G> A (p.Asp1341Asn) single nucleotide variant Likely pathogenic rs121908351 GRCh37 Chromosome 10, 73492049: 73492049
8 CDH23 NM_022124.5(CDH23): c.4021G> A (p.Asp1341Asn) single nucleotide variant Likely pathogenic rs121908351 GRCh38 Chromosome 10, 71732292: 71732292
9 CDH23 NM_022124.5(CDH23): c.5663T> C (p.Phe1888Ser) single nucleotide variant Pathogenic rs121908352 GRCh37 Chromosome 10, 73544808: 73544808
10 CDH23 NM_022124.5(CDH23): c.5663T> C (p.Phe1888Ser) single nucleotide variant Pathogenic rs121908352 GRCh38 Chromosome 10, 71785051: 71785051
11 CDH23 NM_022124.5(CDH23): c.719C> T (p.Pro240Leu) single nucleotide variant Pathogenic rs121908354 GRCh37 Chromosome 10, 73330641: 73330641
12 CDH23 NM_022124.5(CDH23): c.719C> T (p.Pro240Leu) single nucleotide variant Pathogenic rs121908354 GRCh38 Chromosome 10, 71570884: 71570884
13 CDH23 NM_022124.5(CDH23): c.902G> A (p.Arg301Gln) single nucleotide variant Uncertain significance rs121908355 GRCh37 Chromosome 10, 73375330: 73375330
14 CDH23 NM_022124.5(CDH23): c.902G> A (p.Arg301Gln) single nucleotide variant Uncertain significance rs121908355 GRCh38 Chromosome 10, 71615573: 71615573
15 ATP2B2 NM_001001331.2(ATP2B2): c.1891G> A (p.Val631Met) single nucleotide variant risk factor rs61736451 GRCh37 Chromosome 3, 10401576: 10401576
16 ATP2B2 NM_001001331.2(ATP2B2): c.1891G> A (p.Val631Met) single nucleotide variant risk factor rs61736451 GRCh38 Chromosome 3, 10359892: 10359892
17 CDH23 NM_022124.5(CDH23): c.2263C> T (p.His755Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs181255269 GRCh37 Chromosome 10, 73453990: 73453990
18 CDH23 NM_022124.5(CDH23): c.2263C> T (p.His755Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs181255269 GRCh38 Chromosome 10, 71694233: 71694233
19 CDH23 NM_022124.5(CDH23): c.7517G> A (p.Arg2506Gln) single nucleotide variant Uncertain significance rs727502932 GRCh37 Chromosome 10, 73562689: 73562689
20 CDH23 NM_022124.5(CDH23): c.7517G> A (p.Arg2506Gln) single nucleotide variant Uncertain significance rs727502932 GRCh38 Chromosome 10, 71802932: 71802932
21 CDH23 NM_022124.5(CDH23): c.6866A> G (p.Asn2289Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs876657756 GRCh38 Chromosome 10, 71798390: 71798390
22 CDH23 NM_022124.5(CDH23): c.6866A> G (p.Asn2289Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs876657756 GRCh37 Chromosome 10, 73558147: 73558147
23 CDH23 NM_022124.5(CDH23): c.7903G> T (p.Val2635Phe) single nucleotide variant Uncertain significance rs763721044 GRCh38 Chromosome 10, 71805836: 71805836
24 CDH23 NM_022124.5(CDH23): c.7903G> T (p.Val2635Phe) single nucleotide variant Uncertain significance rs763721044 GRCh37 Chromosome 10, 73565593: 73565593
25 GJB2 NM_004004.5(GJB2): c.400T> C (p.Trp134Arg) single nucleotide variant Pathogenic rs878853241 GRCh37 Chromosome 13, 20763321: 20763321
26 GJB2 NM_004004.5(GJB2): c.400T> C (p.Trp134Arg) single nucleotide variant Pathogenic rs878853241 GRCh38 Chromosome 13, 20189182: 20189182
27 CDH23 NM_022124.5(CDH23): c.478G> A (p.Asp160Asn) single nucleotide variant Likely pathogenic rs1057519500 GRCh37 Chromosome 10, 73326547: 73326547
28 CDH23 NM_022124.5(CDH23): c.478G> A (p.Asp160Asn) single nucleotide variant Likely pathogenic rs1057519500 GRCh38 Chromosome 10, 71566790: 71566790
29 CDH23 NM_001171932.1(CDH23): c.683A> T (p.Asp228Val) single nucleotide variant Pathogenic rs1060499788 GRCh38 Chromosome 10, 71570848: 71570848
30 CDH23 NM_001171932.1(CDH23): c.683A> T (p.Asp228Val) single nucleotide variant Pathogenic rs1060499788 GRCh37 Chromosome 10, 73330605: 73330605
31 CDH23 NM_001171932.1(CDH23): c.1036C> T (p.Pro346Ser) single nucleotide variant Pathogenic rs1060499791 GRCh37 Chromosome 10, 73377052: 73377052
32 CDH23 NM_001171932.1(CDH23): c.1036C> T (p.Pro346Ser) single nucleotide variant Pathogenic rs1060499791 GRCh38 Chromosome 10, 71617295: 71617295
33 CDH23 NM_001171932.1(CDH23): c.1037C> T (p.Pro346Leu) single nucleotide variant Pathogenic rs778251205 GRCh38 Chromosome 10, 71617296: 71617296
34 CDH23 NM_001171932.1(CDH23): c.1037C> T (p.Pro346Leu) single nucleotide variant Pathogenic rs778251205 GRCh37 Chromosome 10, 73377053: 73377053
35 CDH23 NG_008835.1: g.285670C> T single nucleotide variant Pathogenic rs1060499792 GRCh37 Chromosome 10, 73437373: 73437373
36 CDH23 NG_008835.1: g.285670C> T single nucleotide variant Pathogenic rs1060499792 GRCh38 Chromosome 10, 71677616: 71677616
37 CDH23 NM_022124.5(CDH23): c.3181G> A (p.Glu1061Lys) single nucleotide variant Pathogenic rs1060499793 GRCh37 Chromosome 10, 73468929: 73468929
38 CDH23 NM_022124.5(CDH23): c.3181G> A (p.Glu1061Lys) single nucleotide variant Pathogenic rs1060499793 GRCh38 Chromosome 10, 71709172: 71709172
39 CDH23 NM_022124.5(CDH23): c.5749G> A (p.Glu1917Lys) single nucleotide variant Pathogenic rs1060499789 GRCh38 Chromosome 10, 71785667: 71785667
40 CDH23 NM_022124.5(CDH23): c.5749G> A (p.Glu1917Lys) single nucleotide variant Pathogenic rs1060499789 GRCh37 Chromosome 10, 73545424: 73545424
41 CDH23 NM_022124.5(CDH23): c.8204T> C (p.Leu2735Pro) single nucleotide variant Pathogenic rs1060499790 GRCh38 Chromosome 10, 71807302: 71807302
42 CDH23 NM_022124.5(CDH23): c.8204T> C (p.Leu2735Pro) single nucleotide variant Pathogenic rs1060499790 GRCh37 Chromosome 10, 73567059: 73567059
43 CDH23 NM_022124.5(CDH23): c.8248G> A (p.Val2750Met) single nucleotide variant Uncertain significance rs752930006 GRCh37 Chromosome 10, 73567103: 73567103
44 CDH23 NM_022124.5(CDH23): c.8248G> A (p.Val2750Met) single nucleotide variant Uncertain significance rs752930006 GRCh38 Chromosome 10, 71807346: 71807346
45 CDH23 NM_022124.5(CDH23): c.2866G> A (p.Glu956Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs756147087 GRCh37 Chromosome 10, 73464800: 73464800
46 CDH23 NM_022124.5(CDH23): c.2866G> A (p.Glu956Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs756147087 GRCh38 Chromosome 10, 71705043: 71705043
47 CDH23 NM_022124.5(CDH23): c.2132_2136delACTCC (p.Tyr711Phefs) deletion Pathogenic GRCh38 Chromosome 10, 71690540: 71690544
48 CDH23 NM_022124.5(CDH23): c.2132_2136delACTCC (p.Tyr711Phefs) deletion Pathogenic GRCh37 Chromosome 10, 73450297: 73450301
49 CDH23 NM_022124.5(CDH23): c.4877A> C (p.Asp1626Ala) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 73537468: 73537468
50 CDH23 NM_022124.5(CDH23): c.1934A> G (p.Asp645Gly) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 71682520: 71682520

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 10.49 GSTT2 GSTT2B

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 cytoplasm GO:0005737 9.7 ATP2B2 GJB2 GSTT2 GSTT2B MYO7A PCBD1
2 photoreceptor outer segment GO:0001750 8.96 MYO7A PCDH15
3 stereocilium GO:0032420 8.8 CDH23 MYO7A PCDH15

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 visual perception GO:0007601 9.61 CDH23 MYO7A PCDH15
2 locomotory behavior GO:0007626 9.51 CDH23 PCDH15
3 inner ear development GO:0048839 9.5 GJB2 MYO7A PCDH15
4 regulation of cytosolic calcium ion concentration GO:0051480 9.49 ATP2B2 CDH23
5 glutathione metabolic process GO:0006749 9.48 GSTT2 GSTT2B
6 photoreceptor cell maintenance GO:0045494 9.46 CDH23 PCDH15
7 inner ear receptor cell stereocilium organization GO:0060122 9.43 CDH23 MYO7A PCDH15
8 auditory receptor cell stereocilium organization GO:0060088 9.4 MYO7A PCDH15
9 inner ear auditory receptor cell differentiation GO:0042491 9.37 MYO7A PCDH15
10 sensory perception of light stimulus GO:0050953 9.33 CDH23 MYO7A PCDH15
11 equilibrioception GO:0050957 9.13 CDH23 MYO7A PCDH15
12 sensory perception of sound GO:0007605 9.02 ATP2B2 CDH23 GJB2 MYO7A PCDH15

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

# Name GO ID Score Top Affiliating Genes
1 glutathione transferase activity GO:0004364 8.62 GSTT2 GSTT2B

Sources for Deafness, Autosomal Recessive 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
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49 NCI
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57 OMIM
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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