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DFNB28
MCID: DFN121
MIFTS: 36

Deafness, Autosomal Recessive 28 (DFNB28)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
Sources

Aliases & Classifications for Deafness, Autosomal Recessive 28

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MalaCards integrated aliases for Deafness, Autosomal Recessive 28:

Name: Deafness, Autosomal Recessive 28 56 29 13 6 71
Dfnb28 56 12 73
Autosomal Recessive Nonsyndromic Deafness 28 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 28 73
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 28 73
Deafness, Autosomal Recessive, Type 28 39
Deafness, Autosomal Recessive, 28 73
Autosomal Recessive Deafness 28 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset


HPO:

31
deafness, autosomal recessive 28:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Ear diseases Neuronal diseases Blood diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:0110486
OMIM 56 609823
OMIM Phenotypic Series 56 PS220290
MeSH 43 D006319
ICD10 32 H90.3
MedGen 41 C1853276
SNOMED-CT via HPO 68 258211005
UMLS 71 C1853276
Sources

Summaries for Deafness, Autosomal Recessive 28

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UniProtKB/Swiss-Prot : 73 Deafness, autosomal recessive, 28: 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 28, also known as dfnb28, is related to deafness, autosomal recessive 93 and nonsyndromic hearing loss. An important gene associated with Deafness, Autosomal Recessive 28 is TRIOBP (TRIO And F-Actin Binding Protein). Affiliated tissues include brain, and related phenotypes are severe sensorineural hearing impairment and behavior/neurological

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 TRIOBP gene on chromosome 22q13.

More information from OMIM: 609823 PS220290
Sources

Related Diseases for Deafness, Autosomal Recessive 28

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Diseases in the Rare 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 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 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 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

Diseases related to Deafness, Autosomal Recessive 28 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 93 29.7 TRIOBP OTOF CABP2
2 nonsyndromic hearing loss 28.5 TRIOBP TMIE TECTA OTOF MYO15A
3 autosomal recessive non-syndromic sensorineural deafness type dfnb 26.4 TRIOBP TPRN TMIE TECTA OTOF OTOA
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
5 deafness, x-linked 3 10.2 TRIOBP TPRN
6 deafness, autosomal recessive 27 10.2 TMIE ESPN
7 deafness, autosomal recessive 39 10.1 TRIOBP OTOA
8 deafness, autosomal dominant 2b 10.1 TRIOBP CABP2
9 deafness, autosomal dominant 51 10.0 TPRN TECTA
10 deafness, autosomal dominant 20 10.0 TPRN ESPNL
11 deafness, autosomal recessive 67 10.0 TMIE CABP2
12 deafness, autosomal recessive 6 10.0 TRIOBP TMIE OTOA
13 deafness, autosomal dominant 17 9.9 TPRN MYO15A
14 usher syndrome, type iid 9.9 MYO15A ESPN
15 deafness, autosomal dominant 22 9.9 TPRN MYO15A
16 deafness, autosomal recessive 37 9.8 TRIOBP TPRN MYO15A
17 deafness, autosomal recessive 79 9.8 TPRN MYO15A GRXCR1
18 y-linked deafness 9.8 TMIE OTOF
19 deafness, autosomal recessive 1b 9.8 TPRN MYO15A ESPN
20 deafness, autosomal dominant 3b 9.8 TPRN TECTA OTOA
21 deafness, autosomal recessive 91 9.8 TPRN TECTA OTOA
22 deafness, autosomal dominant 27 9.8 TMIE MYO15A GRXCR1
23 y-linked monogenic disease 9.8 TMIE OTOF
24 deafness, autosomal recessive 85 9.8 OTOF OTOA
25 deafness, autosomal recessive 30 9.8 MYO15A ESPNL ESPN
26 auditory neuropathy, autosomal dominant, 1 9.8 OTOF ESPNL
27 non-syndromic genetic deafness 9.7 TRIOBP TECTA MYO15A
28 deafness, autosomal recessive 8 9.7 OTOF MYO15A
29 deafness, autosomal recessive 63 9.6 TMIE OTOA MYO15A
30 deafness, autosomal recessive 25 9.6 TRIOBP MYO15A GRXCR1 ESPNL
31 usher syndrome, type id 9.6 TECTA MYO15A
32 autosomal recessive nonsyndromic deafness 36 9.6 TRIOBP TPRN GRXCR1 ESPNL ESPN
33 deafness, autosomal recessive 21 9.6 TECTA OTOA MYO15A
34 erythrokeratodermia variabilis et progressiva 1 9.5 TMIE TECTA
35 branchiootic syndrome 1 9.5 TECTA OTOF GRXCR1
36 deafness, autosomal recessive 24 9.5 TRIOBP TPRN TECTA MYO15A
37 x-linked nonsyndromic deafness 9.5 TPRN TECTA OTOF
38 deafness, autosomal recessive 1a 9.4 OTOF OTOA
39 vestibular disease 9.4 OTOF MYO15A
40 deafness, autosomal recessive 83 9.3 OTOF OTOA MYO15A
41 deafness, autosomal recessive 2 9.3 TECTA OTOF MYO15A
42 deafness, autosomal dominant 36 9.3 TMIE OTOF MYO15A
43 deafness, autosomal recessive 9 9.3 TECTA OTOF MYO15A
44 deafness, autosomal recessive 35 9.3 TRIOBP TMIE OTOA MYO15A GRXCR1
45 deafness, autosomal dominant 1 9.2 TRIOBP TPRN TECTA MYO15A ESPN
46 usher syndrome 9.2 TMIE OTOF MYO15A ESPN
47 usher syndrome type 2 9.1 OTOF OTOA MYO15A ESPN
48 autosomal recessive nonsyndromic deafness 3 9.1 TPRN TECTA OTOF MYO15A
49 deafness, autosomal recessive 16 9.1 TMIE OTOF OTOA MYO15A
50 deafness, autosomal recessive 7 9.1 TMIE OTOF OTOA MYO15A

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 28:



Diseases related to Deafness, Autosomal Recessive 28
Sources

Symptoms & Phenotypes for Deafness, Autosomal Recessive 28

About this section

Human phenotypes related to Deafness, Autosomal Recessive 28:

31
# Description HPO Frequency HPO Source Accession
1 severe sensorineural hearing impairment 31 HP:0008625

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
hearing loss, sensorineural, severe to profound

Clinical features from OMIM:

609823

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 28:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.81 ESPN ESPNL GRXCR1 MYO15A OTOF TECTA
2 hearing/vestibular/ear MP:0005377 9.7 CABP2 ESPN ESPNL GRXCR1 MYO15A OTOA
3 nervous system MP:0003631 9.36 CABP2 ESPN GRXCR1 MYO15A OTOA OTOF
Sources

Drugs & Therapeutics for Deafness, Autosomal Recessive 28

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Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 28

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Genetic Tests for Deafness, Autosomal Recessive 28

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Genetic tests related to Deafness, Autosomal Recessive 28:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 28 29 TRIOBP
Sources

Anatomical Context for Deafness, Autosomal Recessive 28

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MalaCards organs/tissues related to Deafness, Autosomal Recessive 28:

40
Brain
Sources

Publications for Deafness, Autosomal Recessive 28

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Articles related to Deafness, Autosomal Recessive 28:

# Title Authors PMID Year
1
Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness. 61 56 6
16385457 2006
2
Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss. 61 56 6
16385458 2006
3
Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing. 61 56
20510926 2010
4
Hereditary Hearing Loss and Deafness Overview 6
20301607 1999
5
A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family. 61
32487028 2020
6
Genetic Linkage Analysis of DFNB4, DFNB28, DFNB93 Loci in Autosomal Recessive Non-syndromic Hearing Loss: Evidence for Digenic Inheritance in GJB2 and GJB3 Mutations. 61
29318123 2018
7
Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment. 61
28089734 2017
8
R1 motif is the major actin-binding domain of TRIOBP-4. 61
23789641 2013
Sources

Variations for Deafness, Autosomal Recessive 28

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ClinVar genetic disease variations for Deafness, Autosomal Recessive 28:

6 (show all 37) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRIOBP NM_001039141.3(TRIOBP):c.1447C>T (p.Gln483Ter)SNV Pathogenic 402280 rs1060499809 22:38120010-38120010 22:37724003-37724003
2 TRIOBP NM_001039141.3(TRIOBP):c.3055G>A (p.Gly1019Arg)SNV Pathogenic 402281 rs549095193 22:38121618-38121618 22:37725611-37725611
3 TRIOBP NM_001039141.3(TRIOBP):c.3634_3646del (p.Leu1212fs)deletion Pathogenic 562075 rs1569042782 22:38122196-38122208 22:37726189-37726201
4 TRIOBP NM_001039141.3(TRIOBP):c.1039C>T (p.Arg347Ter)SNV Pathogenic 1490 rs118204026 22:38119602-38119602 22:37723595-37723595
5 TRIOBP NM_001039141.3(TRIOBP):c.1741C>T (p.Gln581Ter)SNV Pathogenic 1491 rs118204027 22:38120304-38120304 22:37724297-37724297
6 TRIOBP NM_001039141.3(TRIOBP):c.889C>T (p.Gln297Ter)SNV Pathogenic 1492 rs118204028 22:38119452-38119452 22:37723445-37723445
7 TRIOBP NM_001039141.3(TRIOBP):c.2362C>T (p.Arg788Ter)SNV Pathogenic 1493 rs118204029 22:38120925-38120925 22:37724918-37724918
8 TRIOBP NM_001039141.3(TRIOBP):c.3202C>T (p.Arg1068Ter)SNV Pathogenic 1494 rs118204030 22:38121765-38121765 22:37725758-37725758
9 TRIOBP NM_001039141.3(TRIOBP):c.3349C>T (p.Arg1117Ter)SNV Pathogenic 1495 rs118204031 22:38121912-38121912 22:37725905-37725905
10 TRIOBP NM_001039141.3(TRIOBP):c.3202_3203del (p.Asp1069fs)deletion Pathogenic 1496 22:38121765-38121766 22:37725758-37725759
11 TRIOBP TRIOBP, 1-BP INS, 3225Cinsertion Pathogenic 1497
12 TRIOBP NM_001039141.3(TRIOBP):c.3524C>A (p.Ser1175Ter)SNV Pathogenic 627486 rs1569042693 22:38122087-38122087 22:37726080-37726080
13 TRIOBP NM_001039141.3(TRIOBP):c.4291G>T (p.Glu1431Ter)SNV Pathogenic 627485 rs1569046250 22:38130634-38130634 22:37734627-37734627
14 TRIOBP NM_001039141.3(TRIOBP):c.131C>G (p.Ser44Ter)SNV Likely pathogenic 627487 rs1569034190 22:38106450-38106450 22:37710443-37710443
15 TRIOBP NM_001039141.3(TRIOBP):c.826C>T (p.Pro276Ser)SNV Likely pathogenic 627488 rs1569040134 22:38119389-38119389 22:37723382-37723382
16 TRIOBP NM_001039141.3(TRIOBP):c.3143_3144AG[1] (p.Glu1048_Ser1049insTer)short repeat Likely pathogenic 495111 rs1555896285 22:38121705-38121706 22:37725698-37725699
17 TRIO NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)SNV Conflicting interpretations of pathogenicity 449111 rs1554065887 5:14374353-14374353 5:14374244-14374244
18 TRIOBP NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys)SNV Conflicting interpretations of pathogenicity 156028 rs140901235 22:38119378-38119378 22:37723371-37723371
19 TRIOBP NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln)SNV Conflicting interpretations of pathogenicity 165587 rs34066624 22:38129388-38129388 22:37733381-37733381
20 TRIOBP NM_001039141.3(TRIOBP):c.6362C>T (p.Ser2121Leu)SNV Conflicting interpretations of pathogenicity 165609 rs201724032 22:38161714-38161714 22:37765707-37765707
21 TRIOBP NM_001039141.3(TRIOBP):c.2201C>T (p.Ser734Phe)SNV Conflicting interpretations of pathogenicity 290786 rs199794705 22:38120764-38120764 22:37724757-37724757
22 TRIOBP NM_001039141.3(TRIOBP):c.536G>C (p.Arg179Pro)SNV Uncertain significance 828103 22:38111849-38111849 22:37715842-37715842
23 TRIOBP NM_001039141.3(TRIOBP):c.6860G>A (p.Arg2287His)SNV Uncertain significance 225500 rs370737996 22:38167667-38167667 22:37771660-37771660
24 TRIOBP NM_001039141.3(TRIOBP):c.5705A>C (p.Lys1902Thr)SNV Uncertain significance 229363 rs138804394 22:38153637-38153637 22:37757630-37757630
25 TRIOBP NM_001039141.3(TRIOBP):c.6515G>A (p.Arg2172Gln)SNV Uncertain significance 229368 rs200528850 22:38164123-38164123 22:37768116-37768116
26 TRIOBP NM_001039141.3(TRIOBP):c.1283C>G (p.Pro428Arg)SNV Uncertain significance 285798 rs372134073 22:38119846-38119846 22:37723839-37723839
27 TRIOBP NM_001039141.3(TRIOBP):c.2149C>G (p.Gln717Glu)SNV Uncertain significance 286759 rs186620158 22:38120712-38120712 22:37724705-37724705
28 TRIOBP NM_001039141.3(TRIOBP):c.2061_2132del (p.Ser688_Pro711del)deletion Uncertain significance 638335 22:38120605-38120676 22:37724598-37724669
29 TRIOBP NM_001039141.3(TRIOBP):c.154G>A (p.Asp52Asn)SNV Uncertain significance 626273 rs147691840 22:38106473-38106473 22:37710466-37710466
30 TRIOBP NM_001039141.3(TRIOBP):c.6548G>A (p.Gly2183Asp)SNV Uncertain significance 626274 rs780554525 22:38164156-38164156 22:37768149-37768149
31 TRIOBP NM_001039141.3(TRIOBP):c.2064C>A (p.Ser688Arg)SNV Uncertain significance 523064 rs1555896093 22:38120627-38120627 22:37724620-37724620
32 TRIOBP NM_001039141.3(TRIOBP):c.2018G>A (p.Arg673Lys)SNV Uncertain significance 547924 rs370666072 22:38120581-38120581 22:37724574-37724574
33 TRIOBP NM_001039141.3(TRIOBP):c.1478G>A (p.Ser493Asn)SNV Benign/Likely benign 508124 rs4821700 22:38120041-38120041 22:37724034-37724034
34 TRIOBP NM_001039141.3(TRIOBP):c.6741G>A (p.Leu2247=)SNV Benign/Likely benign 165612 rs375013523 22:38165274-38165274 22:37769267-37769267
35 TRIOBP NM_001039141.3(TRIOBP):c.2477C>T (p.Ser826Leu)SNV Benign 811578 22:38121040-38121040 22:37725033-37725033
36 TRIOBP NM_001039141.3(TRIOBP):c.3089C>G (p.Pro1030Arg)SNV Benign 811604 22:38121652-38121652 22:37725645-37725645
37 TRIOBP NM_001039141.3(TRIOBP):c.1193_1195del (p.Gln398del)deletion Benign 198447 rs55745992 22:38119755-38119757 22:37723748-37723750

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 28:

73
# Symbol AA change Variation ID SNP ID
1 TRIOBP p.Gly1019Arg VAR_025719 rs549095193

Sources

Expression for Deafness, Autosomal Recessive 28

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Search GEO for disease gene expression data for Deafness, Autosomal Recessive 28.
Sources

Pathways for Deafness, Autosomal Recessive 28

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Sources

GO Terms for Deafness, Autosomal Recessive 28

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Cellular components related to Deafness, Autosomal Recessive 28 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin cytoskeleton GO:0015629 9.5 TRIOBP MYO15A ESPN
2 cell projection GO:0042995 9.5 TRIO TPRN OTOF MYO15A GRXCR1 ESPNL
3 stereocilium tip GO:0032426 9.26 ESPNL ESPN
4 stereocilium bundle GO:0032421 9.16 MYO15A ESPN
5 stereocilium GO:0032420 9.02 TPRN MYO15A GRXCR1 ESPNL ESPN

Biological processes related to Deafness, Autosomal Recessive 28 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.36 TRIOBP TPRN TMIE TECTA OTOF OTOA
2 inner ear morphogenesis GO:0042472 9.26 TMIE MYO15A
3 actin filament bundle assembly GO:0051017 9.16 ESPNL ESPN
4 auditory receptor cell stereocilium organization GO:0060088 8.96 TRIOBP TPRN

Molecular functions related to Deafness, Autosomal Recessive 28 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.26 TRIOBP MYO15A ESPNL ESPN
2 actin filament binding GO:0051015 8.92 TRIOBP MYO15A ESPNL ESPN
Sources

Sources for Deafness, Autosomal Recessive 28

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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