DFNB42
MCID: DFN244
MIFTS: 36

Deafness, Autosomal Recessive 42 (DFNB42)

Categories: Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Deafness, Autosomal Recessive 42

MalaCards integrated aliases for Deafness, Autosomal Recessive 42:

Name: Deafness, Autosomal Recessive 42 57 5 71
Dfnb42 57 11 73
Autosomal Recessive Nonsyndromic Deafness 42 11 14
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 42 73
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 42 73
Congenital Neurosensory Deafness Autosomal Recessive 42 73
Deafness, Autosomal Recessive, Type 42 38
Deafness, Autosomal Recessive, 42 73
Autosomal Recessive Deafness 42 11

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
prelingual onset


Classifications:



External Ids:

Disease Ontology 11 DOID:0110500
OMIM® 57 609646
OMIM Phenotypic Series 57 PS220290
MeSH 43 D006319
ICD10 31 H90.3
MedGen 40 C1864818
SNOMED-CT via HPO 69 60700002
UMLS 71 C1864818

Summaries for Deafness, Autosomal Recessive 42

UniProtKB/Swiss-Prot: 73 A prelingual, non-progressive 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 42, also known as dfnb42, is related to deafness, autosomal recessive 21 and nonsyndromic hearing loss. An important gene associated with Deafness, Autosomal Recessive 42 is ILDR1 (Immunoglobulin Like Domain Containing Receptor 1), and among its related pathways/superpathways is Sensory processing of sound. Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and nervous system

Disease Ontology: 11 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the ILDR1 gene on chromosome 3q13.

More information from OMIM: 609646 PS220290

Related Diseases for Deafness, Autosomal Recessive 42

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 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
Deafness, Autosomal Dominant 81 Deafness, Autosomal Recessive 119
Deafness, Autosomal Dominant 82 Deafness, Autosomal Dominant 83
Deafness, Autosomal Dominant 84 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 70
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 Otof-Related Deafness
Familial Deafness

Diseases related to Deafness, Autosomal Recessive 42 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 21 29.6 TECTA MYO15A CEACAM16
2 nonsyndromic hearing loss 29.6 TRIOBP TMPRSS3 TECTA MYO15A CEACAM16
3 deafness, autosomal recessive 49 29.4 MYO15A MARVELD2 LSR ILDR2 ILDR1 CLDN14
4 deafness, autosomal recessive 29 29.0 TMPRSS3 TECTA MYO15A MARVELD2 ILDR2 ILDR1
5 deafness, autosomal recessive 24 28.8 TRIOBP TPRN TMPRSS3 TECTA MYO15A ILDR1
6 superior semicircular canal dehiscence 10.1 MYO15A CCDC27
7 deafness, autosomal recessive 2 10.1 TECTA MYO15A
8 autosomal recessive nonsyndromic deafness 70 10.1 PTPRQ MYO15A
9 autosomal recessive nonsyndromic deafness 3 10.1 TECTA MYO15A
10 deafness, autosomal recessive 84a 10.0 PTPRQ MYO15A
11 deafness, autosomal dominant 48 10.0 TECTA MYO15A
12 deafness, autosomal recessive 16 10.0 PTPRQ MYO15A
13 usher syndrome, type iid 10.0 TECTA MYO15A
14 deafness, autosomal recessive 18b 9.9 TECTA CEACAM16
15 usher syndrome, type ic 9.9 MYO15A CEACAM16
16 deafness, x-linked 3 9.9 TRIOBP TPRN
17 deafness, autosomal recessive 8 9.9 TMPRSS4 TMPRSS3
18 deafness, autosomal dominant 17 9.9 TPRN MYO15A
19 ear malformation 9.9 MYO15A MARVELD2 CEACAM16
20 deafness, autosomal dominant 11 9.9 TECTA MYO15A
21 petroclival meningioma 9.9 TMPRSS4 TMPRSS3
22 deafness, autosomal recessive 91 9.9 TPRN TECTA
23 deafness, autosomal dominant 7 9.9 TMPRSS3 TECTA MYO15A
24 deafness, autosomal dominant 22 9.9 TPRN MYO15A
25 vestibular disease 9.9 TMPRSS3 TECTA MYO15A
26 deafness, autosomal recessive 77 9.9 TMPRSS4 TMPRSS3
27 deafness, autosomal recessive 35 9.8 TRIOBP TECTA MYO15A
28 deafness, autosomal dominant 10 9.8 TRIOBP TECTA
29 autosomal recessive nonsyndromic deafness 36 9.8 TRIOBP TPRN MYO15A
30 deafness, autosomal dominant 51 9.8 TPRN TECTA CLDN14
31 deafness, autosomal recessive 63 9.8 TRIOBP TPRN MYO15A
32 deafness, autosomal recessive 98 9.7 TMPRSS4 TMPRSS3 CLDN14
33 autosomal dominant non-syndromic sensorineural deafness type dfna 9.7 TECTA PTPRQ CEACAM16
34 deafness, autosomal recessive 1a 9.7 TRIOBP MYO15A
35 deafness, autosomal recessive 83 9.7 TMPRSS4 TMPRSS3 MYO15A
36 deafness, autosomal recessive 28 9.7 TRIOBP TPRN CEACAM16
37 x-linked nonsyndromic deafness 9.7 TPRN TECTA
38 deafness, autosomal dominant 3b 9.7 TPRN TECTA CEACAM16
39 deafness, autosomal recessive 9 9.7 TRIOBP TMPRSS3 TECTA MYO15A
40 deafness, autosomal dominant 1, with or without thrombocytopenia 9.6 TRIOBP TECTA PTPRQ MYO15A
41 deafness, autosomal dominant 58 9.6 TRIOBP TPRN ILDR1 CEACAM16
42 deafness, autosomal dominant 3a 9.6 TRIOBP TPRN ILDR1 CEACAM16
43 deafness, autosomal recessive 37 9.6 TRIOBP TPRN PTPRQ MYO15A
44 usher syndrome, type id 9.6 TPRN TMPRSS3 TECTA MYO15A
45 deafness, autosomal recessive 79 9.5 TRIOBP TPRN MYO15A CEACAM16
46 deafness, autosomal recessive 1b 9.5 TPRN TECTA MYO15A CEACAM16
47 rare genetic deafness 9.5 TMPRSS3 TECTA MYO15A MARVELD2 CEACAM16
48 deafness, autosomal dominant 2a 9.5 TPRN TECTA PTPRQ CEACAM16
49 deafness, autosomal recessive 39 9.5 TMPRSS4 TMPRSS3 TECTA PTPRQ
50 deafness, autosomal recessive 25 9.4 TRIOBP TPRN TMPRSS3 PTPRQ MYO15A

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 42:



Diseases related to Deafness, Autosomal Recessive 42

Symptoms & Phenotypes for Deafness, Autosomal Recessive 42

Human phenotypes related to Deafness, Autosomal Recessive 42:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 30 HP:0000407

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Head And Neck Ears:
nonprogressive
deafness, neurosensory
affects all frequencies

Clinical features from OMIM®:

609646 (Updated 24-Oct-2022)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 42:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.81 CLDN14 ILDR1 MARVELD2 MYO15A PTPRQ TECTA
2 hearing/vestibular/ear MP:0005377 9.65 CEACAM16 CLDN14 ILDR1 MARVELD2 MYO15A PTPRQ
3 behavior/neurological MP:0005386 9.28 CLDN14 ILDR1 MARVELD2 MYO15A PTPRQ TECTA

Drugs & Therapeutics for Deafness, Autosomal Recessive 42

Search Clinical Trials, NIH Clinical Center for Deafness, Autosomal Recessive 42

Genetic Tests for Deafness, Autosomal Recessive 42

Anatomical Context for Deafness, Autosomal Recessive 42

Organs/tissues related to Deafness, Autosomal Recessive 42:

MalaCards : Brain

Publications for Deafness, Autosomal Recessive 42

Articles related to Deafness, Autosomal Recessive 42:

(show all 13)
# Title Authors PMID Year
1
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. 62 57 5
21255762 2011
2
A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3. 62 57 5
15641023 2005
3
Downsloping high-frequency hearing loss due to inner ear tricellular tight junction disruption by a novel ILDR1 mutation in the Ig-like domain. 62 5
25668204 2015
4
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. 5
30303587 2019
5
A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families. 62
29849566 2018
6
Discovering the Unexpected with the Utilization of NGS in Diagnostics of Non-syndromic Hearing Loss Disorders: The Family Case of ILDR1-Dependent Hearing Loss Disorder. 62
28713423 2017
7
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. 62
28900455 2017
8
ILDR1 deficiency causes degeneration of cochlear outer hair cells and disrupts the structure of the organ of Corti: a mouse model for human DFNB42. 62
25819842 2015
9
ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells. 62
25217574 2015
10
Deficiency of angulin-2/ILDR1, a tricellular tight junction-associated membrane protein, causes deafness with cochlear hair cell degeneration in mice. 62
25822906 2015
11
Ildr1b is essential for semicircular canal development, migration of the posterior lateral line primordium and hearing ability in zebrafish: implications for a role in the recessive hearing impairment DFNB42. 62
24990150 2014
12
[Molecular organization of tricellular tight junctions]. 62
24790043 2014
13
Analysis of the 'angulin' proteins LSR, ILDR1 and ILDR2--tricellulin recruitment, epithelial barrier function and implication in deafness pathogenesis. 62
23239027 2013

Variations for Deafness, Autosomal Recessive 42

ClinVar genetic disease variations for Deafness, Autosomal Recessive 42:

5 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ILDR1 NM_001199799.2(ILDR1):c.820C>T (p.Gln274Ter) SNV Pathogenic
1299309 GRCh37: 3:121712776-121712776
GRCh38: 3:121993929-121993929
2 ILDR1 NM_001199799.2(ILDR1):c.294del (p.Val99fs) DEL Pathogenic
1299310 GRCh37: 3:121724176-121724176
GRCh38: 3:122005329-122005329
3 ILDR1 NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter) SNV Pathogenic
228748 rs142746163 GRCh37: 3:121713035-121713035
GRCh38: 3:121994188-121994188
4 ILDR1 NM_001199799.2(ILDR1):c.3G>A (p.Met1Ile) SNV Pathogenic
30797 rs387907016 GRCh37: 3:121740922-121740922
GRCh38: 3:122022075-122022075
5 ILDR1 NM_001199799.2(ILDR1):c.1032del (p.Thr345fs) DEL Pathogenic
562090 rs1226171550 GRCh37: 3:121712564-121712564
GRCh38: 3:121993717-121993717
6 ILDR1 NM_001199799.2(ILDR1):c.1135G>T (p.Glu379Ter) SNV Pathogenic
30796 rs387907015 GRCh37: 3:121712461-121712461
GRCh38: 3:121993614-121993614
7 ILDR1 NM_001199799.2(ILDR1):c.583C>T (p.Gln195Ter) SNV Pathogenic
30798 rs387907017 GRCh37: 3:121720218-121720218
GRCh38: 3:122001371-122001371
8 ILDR1 NM_001199799.2(ILDR1):c.643G>T (p.Glu215Ter) SNV Pathogenic
627449 rs1559875009 GRCh37: 3:121720158-121720158
GRCh38: 3:122001311-122001311
9 ILDR1 NM_001199799.2(ILDR1):c.942C>A (p.Cys314Ter) SNV Pathogenic
695027 rs752714222 GRCh37: 3:121712654-121712654
GRCh38: 3:121993807-121993807
10 ILDR1 NM_001199799.2(ILDR1):c.1384C>T (p.Arg462Ter) SNV Pathogenic
562073 rs775062249 GRCh37: 3:121712212-121712212
GRCh38: 3:121993365-121993365
11 ILDR1 NM_001199799.2(ILDR1):c.206C>A (p.Pro69His) SNV Likely Pathogenic
1705301 GRCh37: 3:121725861-121725861
GRCh38: 3:122007014-122007014
12 ILDR1 NM_001199799.2(ILDR1):c.866T>G (p.Leu289Trp) SNV Uncertain Significance
872597 rs141450561 GRCh37: 3:121712730-121712730
GRCh38: 3:121993883-121993883
13 ILDR1 NM_001199799.2(ILDR1):c.1312C>T (p.Pro438Ser) SNV Uncertain Significance
1032698 rs554966703 GRCh37: 3:121712284-121712284
GRCh38: 3:121993437-121993437
14 ILDR1 NM_001199799.2(ILDR1):c.1291C>T (p.Arg431Cys) SNV Uncertain Significance
504597 rs376510686 GRCh37: 3:121712305-121712305
GRCh38: 3:121993458-121993458
15 ILDR1 NM_001199799.2(ILDR1):c.1297C>T (p.Arg433Trp) SNV Uncertain Significance
504596 rs140567004 GRCh37: 3:121712299-121712299
GRCh38: 3:121993452-121993452
16 ILDR1 NM_001199799.2(ILDR1):c.1545T>G (p.Leu515=) SNV Benign
44141 rs2877561 GRCh37: 3:121712051-121712051
GRCh38: 3:121993204-121993204
17 ILDR1 NM_001199799.2(ILDR1):c.791C>G (p.Pro264Arg) SNV Benign
44145 rs3915061 GRCh37: 3:121712805-121712805
GRCh38: 3:121993958-121993958

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 42:

73
# Symbol AA change Variation ID SNP ID
1 ILDR1 p.Arg97Gln VAR_065352 rs771818841

Expression for Deafness, Autosomal Recessive 42

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 42.

Pathways for Deafness, Autosomal Recessive 42

Pathways related to Deafness, Autosomal Recessive 42 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.11 TRIOBP TPRN MYO15A

GO Terms for Deafness, Autosomal Recessive 42

Cellular components related to Deafness, Autosomal Recessive 42 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016021 10.48 TMPRSS4 TMPRSS3 TECTA PTPRQ MARVELD2 LSR
2 membrane GO:0016020 10.48 TMPRSS4 TMPRSS3 TECTA PTPRQ MARVELD2 LSR
3 bicellular tight junction GO:0005923 9.85 MARVELD2 LSR ILDR2 ILDR1 CLDN14
4 anchoring junction GO:0070161 9.65 MARVELD2 LSR ILDR2 ILDR1 CLDN14
5 stereocilium base GO:0120044 9.62 TPRN TRIOBP
6 tight junction GO:0070160 9.56 MARVELD2 LSR ILDR2 ILDR1
7 stereocilium bundle GO:0032421 9.37 PTPRQ MYO15A
8 tricellular tight junction GO:0061689 9.1 MARVELD2 LSR ILDR1

Biological processes related to Deafness, Autosomal Recessive 42 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 auditory receptor cell stereocilium organization GO:0060088 9.62 TRIOBP TPRN
2 epithelial structure maintenance GO:0010669 9.56 LSR ILDR1
3 sensory perception of sound GO:0007605 9.47 TRIOBP TPRN TMPRSS3 TECTA MYO15A MARVELD2
4 protein localization to tricellular tight junction GO:0061833 9.46 LSR ILDR1
5 tricellular tight junction assembly GO:1904274 9.26 LSR ILDR1

Sources for Deafness, Autosomal Recessive 42

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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