DFNB29
MCID: DFN139
MIFTS: 41

Deafness, Autosomal Recessive 29 (DFNB29)

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

Aliases & Classifications for Deafness, Autosomal Recessive 29

MalaCards integrated aliases for Deafness, Autosomal Recessive 29:

Name: Deafness, Autosomal Recessive 29 57 29 13 6 70
Dfnb29 57 12 72
Autosomal Recessive Nonsyndromic Deafness 29 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 29 72
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 29 72
Deafness, Autosomal Recessive, Type 29 39
Deafness, Autosomal Recessive, 29 72
Autosomal Recessive Deafness 29 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
nonprogressive
prelingual onset

Inheritance:
autosomal recessive


HPO:

31
deafness, autosomal recessive 29:
Inheritance autosomal recessive inheritance
Onset and clinical course nonprogressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0110487
OMIM® 57 614035
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C3279660
UMLS 70 C3279660

Summaries for Deafness, Autosomal Recessive 29

UniProtKB/Swiss-Prot : 72 Deafness, autosomal recessive, 29: 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 29, also known as dfnb29, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and deafness, autosomal recessive 24. An important gene associated with Deafness, Autosomal Recessive 29 is CLDN14 (Claudin 14), and among its related pathways/superpathways are Integrin Pathway and Toll-like Receptor Signaling Pathway. Related phenotypes are hearing impairment and 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 CLDN14 gene on chromosome 21q22.

More information from OMIM: 614035 PS220290

Related Diseases for Deafness, Autosomal Recessive 29

Diseases in the Rare Deafness family:

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 Deafness, Autosomal Dominant 75
Deafness, Autosomal Dominant 76 Deafness, Autosomal Dominant 77
Deafness, Autosomal Dominant 78 Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116 Deafness, Autosomal Recessive 117
Deafness, Autosomal Dominant 80 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 Dominant Nonsyndromic Deafness 78
Autosomal Dominant Nonsyndromic Deafness 79 Autosomal Recessive Nonsyndromic Deafness 116
Autosomal Dominant Nonsyndromic Deafness 74 Autosomal Dominant Nonsyndromic Deafness 75
Autosomal Dominant Nonsyndromic Deafness 76 Autosomal Dominant Nonsyndromic Deafness 77
Nonsyndromic Deafness Otof-Related Deafness
Familial Deafness

Diseases related to Deafness, Autosomal Recessive 29 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 30.1 GJB2 CLDN9
2 deafness, autosomal recessive 24 30.0 TECTA ILDR1
3 branchiootic syndrome 1 29.9 TECTA MARVELD2 ILDR1 GJB2
4 deafness, autosomal recessive 21 29.9 TECTA GJB2
5 nonsyndromic hearing loss 29.7 TECTA GJB2 CLDN9
6 deafness, autosomal recessive 42 29.2 TECTA MARVELD2 ILDR2 ILDR1 CLDN9 CLDN14
7 sensorineural hearing loss 28.6 TSPEAR TECTA MARVELD2 ILDR1 GJB2 CLDN14
8 autosomal recessive non-syndromic sensorineural deafness type dfnb 28.5 TSPEAR TECTA MARVELD2 ILDR1 GJB2 CLDN14
9 deafness, autosomal dominant 51 10.3 MARVELD2 CLDN14
10 bartter syndrome, type 1, antenatal 10.2 CLDN19 CLDN16
11 hypomagnesemia 1, intestinal 10.2 CLDN19 CLDN16
12 primary hypomagnesemia 10.2 CLDN19 CLDN16
13 deafness, autosomal recessive 39 10.2 GJB2 CLDN14
14 bartter syndrome, type 3 10.1 CLDN19 CLDN16
15 familial hypocalciuric hypercalcemia 10.1 CLDN19 CLDN16
16 hereditary hearing loss and deafness 10.1 GJB2 CLDN14
17 hypomagnesemia 5, renal, with or without ocular involvement 10.1 CLDN19 CLDN16 CLDN14
18 deafness, autosomal recessive 2 10.1 TECTA GJB2
19 deafness, autosomal recessive 1a 10.1 GJB2 CLDN14
20 hereditary lymphedema 10.1 CLDN19 CLDN16
21 nonsyndromic deafness 10.1 TECTA GJB2
22 hereditary lymphedema i 10.0 CLDN19 CLDN16
23 deafness, autosomal recessive 26 10.0 TECTA GJB2
24 deafness, autosomal dominant 6 10.0 TECTA GJB2
25 deafness, autosomal dominant 1, with or without thrombocytopenia 10.0 TECTA GJB2
26 deafness, autosomal recessive 9 10.0 TECTA GJB2
27 deafness, autosomal recessive 98 9.9 TSPEAR CLDN14
28 auditory system disease 9.9 TECTA ILDR1 GJB2
29 rare genetic deafness 9.8 TECTA MARVELD2 GJB2
30 nephrolithiasis, calcium oxalate 9.8 CLDN19 CLDN16
31 usher syndrome, type id 9.8 TECTA GJB2
32 deafness, autosomal recessive 8 9.8 TSPEAR GJB2
33 bartter disease 9.8 CLDN19 CLDN16 CLDN14 CLDN10
34 deafness, autosomal recessive 12 9.8 TECTA GJB2
35 autosomal dominant non-syndromic sensorineural deafness type dfna 9.7 TECTA ILDR1 GJB2 CLDN14
36 deafness, autosomal recessive 9.6 TECTA MARVELD2 ILDR1 GJB2 CLDN14
37 deafness, autosomal recessive 49 9.5 MARVELD2 ILDR2 ILDR1 GJB2 CLDN9 CLDN14
38 autosomal recessive nonsyndromic deafness 9.4 TECTA MARVELD2 ILDR2 ILDR1 GJB2 CLDN14

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 29:



Diseases related to Deafness, Autosomal Recessive 29

Symptoms & Phenotypes for Deafness, Autosomal Recessive 29

Human phenotypes related to Deafness, Autosomal Recessive 29:

31
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 sensorineural hearing impairment 31 HP:0000407

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Ears:
downward sloping audiogram
affects all frequencies
sensorineural hearing loss, severe to profound
greater loss of high frequencies

Clinical features from OMIM®:

614035 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 29:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.81 CLDN10 CLDN11 CLDN12 CLDN14 CLDN19 CLDN9
2 hearing/vestibular/ear MP:0005377 9.56 CLDN11 CLDN12 CLDN14 CLDN9 GJB2 ILDR1
3 nervous system MP:0003631 9.28 CLDN11 CLDN12 CLDN14 CLDN19 CLDN9 GJB2

Drugs & Therapeutics for Deafness, Autosomal Recessive 29

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 29

Genetic Tests for Deafness, Autosomal Recessive 29

Genetic tests related to Deafness, Autosomal Recessive 29:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 29 29 CLDN14

Anatomical Context for Deafness, Autosomal Recessive 29

Publications for Deafness, Autosomal Recessive 29

Articles related to Deafness, Autosomal Recessive 29:

(show all 16)
# Title Authors PMID Year
1
Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss. 57 6 61
22246673 2012
2
Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29. 61 6 57
11163249 2001
3
A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect. 6 61
27838790 2017
4
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro. 61 6
15880785 2005
5
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 6
26969326 2016
6
Loss of inner hair cell ribbon synapses and auditory nerve fiber regression in Cldn14 knockout mice. 61
32251970 2020
7
Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant. 61
31527509 2019
8
Diverse pattern of gap junction beta-2 and gap junction beta-4 genes mutations and lack of contribution of DFNB21, DFNB24, DFNB29, and DFNB42 loci in autosomal recessive nonsyndromic hearing loss patients in Hormozgan, Iran. 61
28900455 2017
9
Molecular Distribution of Deafness Loci in Various Ethnic Groups of the Punjab, Pakistan. 61
26305302 2015
10
Genetic analysis of genes related to tight junction function in the Korean population with non-syndromic hearing loss. 61
24752540 2014
11
Genetic and molecular analysis of the CLDN14 gene in Moroccan family with non-syndromic hearing loss. 61
24339547 2013
12
Analysis of CLDN14 gene in deaf Moroccan patients with non-syndromic hearing loss. 61
23590985 2013
13
Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population. 61
23235333 2013
14
The yin and yang of claudin-14 function in human diseases. 61
22731732 2012
15
Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration. 61
12913076 2003
16
Clinical manifestations of DFNB29 deafness. 61
12408079 2002

Variations for Deafness, Autosomal Recessive 29

ClinVar genetic disease variations for Deafness, Autosomal Recessive 29:

6 (show top 50) (show all 62)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLDN14 NM_001146079.2(CLDN14):c.167G>A (p.Trp56Ter) SNV Pathogenic 189332 rs371100799 GRCh37: 21:37833827-37833827
GRCh38: 21:36461529-36461529
2 CLDN14 NM_001146079.2(CLDN14):c.398del (p.Met133fs) Deletion Pathogenic 4850 rs786200885 GRCh37: 21:37833596-37833596
GRCh38: 21:36461298-36461298
3 CLDN14 NM_001146079.2(CLDN14):c.254T>A (p.Val85Asp) SNV Pathogenic 4851 rs74315437 GRCh37: 21:37833740-37833740
GRCh38: 21:36461442-36461442
4 CLDN14 NM_001146079.2(CLDN14):c.242G>A (p.Arg81His) SNV Pathogenic 189331 rs368027306 GRCh37: 21:37833752-37833752
GRCh38: 21:36461454-36461454
5 CLDN14 NM_001146079.2(CLDN14):c.694G>A (p.Gly232Arg) SNV Pathogenic/Likely pathogenic 189333 rs786204841 GRCh37: 21:37833300-37833300
GRCh38: 21:36461002-36461002
6 CLDN14 NM_001146079.2(CLDN14):c.191G>A (p.Cys64Tyr) SNV Likely pathogenic 599168 rs1568839335 GRCh37: 21:37833803-37833803
GRCh38: 21:36461505-36461505
7 CLDN14 NM_001146079.2(CLDN14):c.301G>A (p.Gly101Arg) SNV Likely pathogenic 4852 rs74315438 GRCh37: 21:37833693-37833693
GRCh38: 21:36461395-36461395
8 CLDN14 NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val) SNV Likely pathogenic 228519 rs143797113 GRCh37: 21:37833506-37833506
GRCh38: 21:36461208-36461208
9 CLDN14 NM_001146079.2(CLDN14):c.621C>T (p.Thr207=) SNV Uncertain significance 44085 rs139437157 GRCh37: 21:37833373-37833373
GRCh38: 21:36461075-36461075
10 CLDN14 NM_001146079.2(CLDN14):c.-187C>T SNV Uncertain significance 339899 rs886057054 GRCh37: 21:37851898-37851898
GRCh38: 21:36479600-36479600
11 CLDN14 NM_001146079.2(CLDN14):c.430G>A (p.Val144Met) SNV Uncertain significance 994398 GRCh37: 21:37833564-37833564
GRCh38: 21:36461266-36461266
12 CLDN14 NM_001146079.2(CLDN14):c.-46G>A SNV Uncertain significance 339893 rs779699092 GRCh37: 21:37834039-37834039
GRCh38: 21:36461741-36461741
13 CLDN14 NM_001146079.2(CLDN14):c.690C>T (p.His230=) SNV Uncertain significance 44089 rs149733854 GRCh37: 21:37833304-37833304
GRCh38: 21:36461006-36461006
14 CLDN14 NM_001146079.2(CLDN14):c.*10G>C SNV Uncertain significance 196574 rs139628442 GRCh37: 21:37833264-37833264
GRCh38: 21:36460966-36460966
15 CLDN14 NM_001146079.2(CLDN14):c.-136G>A SNV Uncertain significance 339898 rs886057053 GRCh37: 21:37851847-37851847
GRCh38: 21:36479549-36479549
16 CLDN14 NM_001146079.2(CLDN14):c.-75G>T SNV Uncertain significance 339895 rs537529014 GRCh37: 21:37834068-37834068
GRCh38: 21:36461770-36461770
17 CLDN14 NM_001146079.2(CLDN14):c.535A>G (p.Thr179Ala) SNV Uncertain significance 339887 rs759597838 GRCh37: 21:37833459-37833459
GRCh38: 21:36461161-36461161
18 CLDN14 NM_001146079.2(CLDN14):c.378C>G (p.Ile126Met) SNV Uncertain significance 339890 rs886057049 GRCh37: 21:37833616-37833616
GRCh38: 21:36461318-36461318
19 CLDN14 NM_001146079.2(CLDN14):c.-337C>G SNV Uncertain significance 339904 rs117804848 GRCh37: 21:37852048-37852048
GRCh38: 21:36479750-36479750
20 CLDN14 NM_001146079.2(CLDN14):c.-634G>A SNV Uncertain significance 339907 rs886057056 GRCh37: 21:37852345-37852345
GRCh38: 21:36480047-36480047
21 CLDN14 NM_001146079.2(CLDN14):c.96G>C (p.Arg32Ser) SNV Uncertain significance 339892 rs886057050 GRCh37: 21:37833898-37833898
GRCh38: 21:36461600-36461600
22 CLDN14 NM_001146079.2(CLDN14):c.-242C>T SNV Uncertain significance 339900 rs78291168 GRCh37: 21:37851953-37851953
GRCh38: 21:36479655-36479655
23 CLDN14 NM_001146079.2(CLDN14):c.587C>T (p.Ala196Val) SNV Uncertain significance 339886 rs200651246 GRCh37: 21:37833407-37833407
GRCh38: 21:36461109-36461109
24 CLDN14 NM_001146079.2(CLDN14):c.450G>T (p.Pro150=) SNV Uncertain significance 339889 rs746102559 GRCh37: 21:37833544-37833544
GRCh38: 21:36461246-36461246
25 CLDN14 NM_001146079.2(CLDN14):c.-297G>A SNV Uncertain significance 339903 rs140333712 GRCh37: 21:37852008-37852008
GRCh38: 21:36479710-36479710
26 CLDN14 NM_001146079.2(CLDN14):c.-492C>T SNV Uncertain significance 339906 rs886057055 GRCh37: 21:37852203-37852203
GRCh38: 21:36479905-36479905
27 CLDN14 NM_001146079.2(CLDN14):c.-390G>A SNV Uncertain significance 339905 rs150344346 GRCh37: 21:37852101-37852101
GRCh38: 21:36479803-36479803
28 CLDN14 NM_001146079.2(CLDN14):c.*107G>A SNV Uncertain significance 339884 rs112112443 GRCh37: 21:37833167-37833167
GRCh38: 21:36460869-36460869
29 CLDN14 NM_001146079.2(CLDN14):c.522G>A (p.Ser174=) SNV Uncertain significance 339888 rs763846537 GRCh37: 21:37833472-37833472
GRCh38: 21:36461174-36461174
30 CLDN14 NM_001146079.2(CLDN14):c.295G>A (p.Val99Ile) SNV Uncertain significance 339891 rs371106978 GRCh37: 21:37833699-37833699
GRCh38: 21:36461401-36461401
31 CLDN14 NM_001146079.2(CLDN14):c.-645G>T SNV Uncertain significance 339908 rs886057057 GRCh37: 21:37852356-37852356
GRCh38: 21:36480058-36480058
32 CLDN14 NM_001146079.2(CLDN14):c.-54G>A SNV Uncertain significance 339894 rs886057051 GRCh37: 21:37834047-37834047
GRCh38: 21:36461749-36461749
33 CLDN14 NM_001146079.2(CLDN14):c.-82+9G>C SNV Uncertain significance 339897 rs886057052 GRCh37: 21:37851784-37851784
GRCh38: 21:36479486-36479486
34 CLDN14 NM_001146079.2(CLDN14):c.18G>A (p.Val6=) SNV Uncertain significance 64487 rs387907417 GRCh37: 21:37833976-37833976
GRCh38: 21:36461678-36461678
35 CLDN14 NM_001146079.2(CLDN14):c.-76C>T SNV Uncertain significance 894859 GRCh37: 21:37834069-37834069
GRCh38: 21:36461771-36461771
36 CLDN14 NM_001146079.2(CLDN14):c.-82+2044A>C SNV Uncertain significance 894860 GRCh37: 21:37849749-37849749
GRCh38: 21:36477451-36477451
37 CLDN14 NM_001146079.2(CLDN14):c.-130G>A SNV Uncertain significance 894861 GRCh37: 21:37851841-37851841
GRCh38: 21:36479543-36479543
38 CLDN14 NM_001146079.2(CLDN14):c.*222T>C SNV Uncertain significance 895960 GRCh37: 21:37833052-37833052
GRCh38: 21:36460754-36460754
39 CLDN14 NM_001146079.2(CLDN14):c.*66G>A SNV Uncertain significance 895961 GRCh37: 21:37833208-37833208
GRCh38: 21:36460910-36460910
40 CLDN14 NM_001146079.2(CLDN14):c.*48G>A SNV Uncertain significance 895962 GRCh37: 21:37833226-37833226
GRCh38: 21:36460928-36460928
41 CLDN14 NM_001146079.2(CLDN14):c.681G>A (p.Ser227=) SNV Uncertain significance 896237 GRCh37: 21:37833313-37833313
GRCh38: 21:36461015-36461015
42 CLDN14 NM_001146079.2(CLDN14):c.578C>T (p.Pro193Leu) SNV Uncertain significance 896238 GRCh37: 21:37833416-37833416
GRCh38: 21:36461118-36461118
43 CLDN14 NM_001146079.2(CLDN14):c.513G>C (p.Ser171=) SNV Uncertain significance 897845 GRCh37: 21:37833481-37833481
GRCh38: 21:36461183-36461183
44 CLDN14 NM_001146079.2(CLDN14):c.-426C>T SNV Uncertain significance 897924 GRCh37: 21:37852137-37852137
GRCh38: 21:36479839-36479839
45 CLDN14 NM_001146079.2(CLDN14):c.-436G>A SNV Uncertain significance 897925 GRCh37: 21:37852147-37852147
GRCh38: 21:36479849-36479849
46 CLDN14 NM_001146079.2(CLDN14):c.-445G>A SNV Uncertain significance 897926 GRCh37: 21:37852156-37852156
GRCh38: 21:36479858-36479858
47 CLDN14 NM_001146079.2(CLDN14):c.-531G>A SNV Uncertain significance 897927 GRCh37: 21:37852242-37852242
GRCh38: 21:36479944-36479944
48 CLDN14 NM_001146079.2(CLDN14):c.262T>C (p.Cys88Arg) SNV Uncertain significance 898995 GRCh37: 21:37833732-37833732
GRCh38: 21:36461434-36461434
49 CLDN14 NM_001146079.2(CLDN14):c.129C>T (p.Ala43=) SNV Uncertain significance 898996 GRCh37: 21:37833865-37833865
GRCh38: 21:36461567-36461567
50 CLDN14 NM_001146079.2(CLDN14):c.-5G>A SNV Uncertain significance 898997 GRCh37: 21:37833998-37833998
GRCh38: 21:36461700-36461700

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 29:

72
# Symbol AA change Variation ID SNP ID
1 CLDN14 p.Val85Asp VAR_010738 rs74315437
2 CLDN14 p.Arg81His VAR_069979 rs368027306
3 CLDN14 p.Ser87Ile VAR_069981
4 CLDN14 p.Ala94Val VAR_069982
5 CLDN14 p.Gly232Arg VAR_069983 rs786204841

Expression for Deafness, Autosomal Recessive 29

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 29.

Pathways for Deafness, Autosomal Recessive 29

Pathways related to Deafness, Autosomal Recessive 29 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.18 CLDN9 CLDN8 CLDN19 CLDN16 CLDN14 CLDN12
2
Show member pathways
13.02 CLDN9 CLDN8 CLDN19 CLDN16 CLDN14 CLDN11
3
Show member pathways
12.76 CLDN9 CLDN8 CLDN19 CLDN16 CLDN14 CLDN12
4
Show member pathways
12.6 CLDN9 CLDN8 CLDN19 CLDN16 CLDN14 CLDN11
5
Show member pathways
12.48 CLDN9 CLDN8 CLDN19 CLDN16 CLDN14 CLDN12
6
Show member pathways
12.41 CLDN8 CLDN19 CLDN16 CLDN14 CLDN11
7
Show member pathways
12.34 CLDN9 CLDN8 CLDN19 CLDN16 CLDN14 CLDN12
8
Show member pathways
11.95 CLDN9 CLDN8 CLDN19 CLDN12 CLDN11 CLDN10
9 11.67 CLDN9 CLDN8 CLDN19 CLDN16 CLDN14 CLDN11
10 11.45 MARVELD2 CLDN9 CLDN8 CLDN19 CLDN16 CLDN14

GO Terms for Deafness, Autosomal Recessive 29

Cellular components related to Deafness, Autosomal Recessive 29 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.18 TECTA MARVELD2 ILDR2 ILDR1 GJB2 CLDN9
2 plasma membrane GO:0005886 10.03 TECTA MARVELD2 ILDR1 GJB2 CLDN9 CLDN8
3 integral component of membrane GO:0016021 9.97 TECTA MARVELD2 ILDR2 ILDR1 GJB2 CLDN9
4 cell junction GO:0030054 9.65 MARVELD2 GJB2 CLDN9 CLDN8 CLDN19 CLDN16
5 basolateral plasma membrane GO:0016323 9.61 MARVELD2 CLDN8 CLDN19
6 tight junction GO:0070160 9.4 CLDN12 CLDN11
7 tricellular tight junction GO:0061689 9.32 MARVELD2 ILDR1
8 bicellular tight junction GO:0005923 9.28 MARVELD2 CLDN9 CLDN8 CLDN19 CLDN16 CLDN14

Biological processes related to Deafness, Autosomal Recessive 29 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.7 CLDN9 CLDN8 CLDN19 CLDN16 CLDN14 CLDN11
2 sensory perception of sound GO:0007605 9.56 TSPEAR TECTA MARVELD2 GJB2
3 bicellular tight junction assembly GO:0070830 9.56 MARVELD2 CLDN9 CLDN8 CLDN19 CLDN16 CLDN14
4 cell-cell junction organization GO:0045216 9.4 MARVELD2 CLDN9
5 tight junction organization GO:0120193 9.37 CLDN9 CLDN19
6 tight junction assembly GO:0120192 9.32 CLDN12 CLDN11
7 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules GO:0016338 9.23 CLDN9 CLDN8 CLDN19 CLDN16 CLDN14 CLDN12

Molecular functions related to Deafness, Autosomal Recessive 29 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.65 ILDR1 GJB2 CLDN9 CLDN8 CLDN19 CLDN16
2 structural molecule activity GO:0005198 9.17 CLDN9 CLDN8 CLDN19 CLDN16 CLDN14 CLDN11

Sources for Deafness, Autosomal Recessive 29

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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