DFNB25
MCID: DFN095
MIFTS: 32

Deafness, Autosomal Recessive 25 (DFNB25)

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

Aliases & Classifications for Deafness, Autosomal Recessive 25

MalaCards integrated aliases for Deafness, Autosomal Recessive 25:

Name: Deafness, Autosomal Recessive 25 57 29 13 6 70
Dfnb25 57 12 72
Autosomal Recessive Nonsyndromic Deafness 25 12 15
Deafness, Autosomal Recessive, Type 25 39
Deafness, Autosomal Recessive, 25 72
Autosomal Recessive Deafness 25 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
congenital or early onset hearing loss
when present, onset of vestibular dysfunction in childhood


HPO:

31
deafness, autosomal recessive 25:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110483
OMIM® 57 613285
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C1414017
SNOMED-CT via HPO 68 258211005
UMLS 70 C1414017

Summaries for Deafness, Autosomal Recessive 25

UniProtKB/Swiss-Prot : 72 Deafness, autosomal recessive, 25: A form of non-syndromic sensorineural deafness characterized by moderate to severe or profound hearing loss which is progressive in some individuals but not in others. Speech development is impaired in some but not all affected individuals, and vestibular dysfunction is observed in some affected individuals. 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 25, also known as dfnb25, is related to rare genetic deafness and nonsyndromic hearing loss. An important gene associated with Deafness, Autosomal Recessive 25 is GRXCR1 (Glutaredoxin And Cysteine Rich Domain Containing 1). Related phenotypes are progressive sensorineural hearing impairment and hearing/vestibular/ear

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has material basis in mutation in the GRXCR1 gene on chromosome 4p13.

More information from OMIM: 613285 PS220290

Related Diseases for Deafness, Autosomal Recessive 25

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

(show all 43)
# Related Disease Score Top Affiliating Genes
1 rare genetic deafness 29.3 TMPRSS3 PJVK MYO15A GRXCR1
2 nonsyndromic hearing loss 29.2 TRIOBP TMPRSS3 PJVK MYO15A
3 deafness, autosomal recessive 2 10.1 PJVK MYO15A
4 deafness, autosomal dominant 27 10.1 MYO15A GRXCR1
5 deafness, autosomal recessive 93 10.1 TRIOBP PJVK
6 autosomal recessive nonsyndromic deafness 3 10.1 PJVK MYO15A
7 deafness, autosomal recessive 6 10.1 TRIOBP PJVK
8 deafness, autosomal recessive 30 10.1 MYO15A ESPNL
9 deafness, autosomal recessive 7 10.1 PJVK MYO15A
10 deafness, autosomal recessive 37 10.0 TRIOBP MYO15A
11 autosomal recessive nonsyndromic deafness 36 10.0 TRIOBP GRXCR1 ESPNL
12 deafness, autosomal recessive 49 10.0 PJVK MYO15A
13 deafness, autosomal dominant 22 10.0 TRIOBP MYO15A
14 deafness, autosomal recessive 15 10.0 PJVK MYO15A
15 auditory neuropathy, autosomal dominant, 1 10.0 PJVK GRXCR1 ESPNL
16 deafness, autosomal dominant 1, with or without thrombocytopenia 10.0 TRIOBP MYO15A
17 deafness, autosomal recessive 21 10.0 PJVK MYO15A
18 deafness, autosomal recessive 39 10.0 TRIOBP TMPRSS3
19 deafness, autosomal recessive 77 10.0 TMPRSS3 PJVK
20 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
21 sensorineural hearing loss 9.9
22 branchiootic syndrome 1 9.9 PJVK GRXCR1
23 deafness, autosomal recessive 63 9.9 PJVK MYO15A
24 deafness, autosomal recessive 22 9.9 TRIOBP PJVK MYO15A
25 deafness, autosomal recessive 13 9.9 TMPRSS3 PJVK GRXCR1
26 vestibular disease 9.8 TMPRSS3 MYO15A
27 deafness, autosomal recessive 28 9.8 TRIOBP MYO15A GRXCR1 ESPNL
28 autosomal recessive nonsyndromic deafness 9.8 TRIOBP TMPRSS3 MYO15A
29 deafness, autosomal recessive 8 9.8 TMPRSS3 PJVK MYO15A
30 deafness, autosomal recessive 83 9.8 TMPRSS3 PJVK MYO15A
31 non-syndromic genetic deafness 9.7 TRIOBP MYO15A
32 otosclerosis 9.7 TMPRSS3 PJVK MYO15A
33 deafness, autosomal recessive 24 9.7 TRIOBP TMPRSS5 PJVK MYO15A
34 deafness, autosomal recessive 35 9.7 TRIOBP TMPRSS3 PJVK GRXCR1
35 usher syndrome, type i 9.6 TRIOBP PJVK MYO15A FSCN2
36 deafness, autosomal recessive 9 9.6 TRIOBP TMPRSS3 PJVK MYO15A
37 deafness, autosomal recessive 12 9.6 TRIOBP TMPRSS3 PJVK MYO15A
38 auditory system disease 9.6 TRIOBP TMPRSS3 PJVK MYO15A
39 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.6 TRIOBP TMPRSS3 PJVK MYO15A
40 deafness, autosomal recessive 9.4 TRIOBP TMPRSS3 PJVK MYO15A GRXCR1
41 autosomal dominant nonsyndromic deafness 9.4 TRIOBP TMPRSS3 PJVK MYO15A GRXCR1
42 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.4 TRIOBP TMPRSS3 PJVK MYO15A GRXCR1
43 usher syndrome 9.3 TRIOBP TMPRSS3 PJVK MYO15A FSCN2

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 25:



Diseases related to Deafness, Autosomal Recessive 25

Symptoms & Phenotypes for Deafness, Autosomal Recessive 25

Human phenotypes related to Deafness, Autosomal Recessive 25:

31
# Description HPO Frequency HPO Source Accession
1 progressive sensorineural hearing impairment 31 HP:0000408

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, sensorineural, progressive (moderate to severe progress in some patients to profound hearing loss)
vestibular involvement (in some patients)

Clinical features from OMIM®:

613285 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 25:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.56 CHRNA9 ESPNL FSCN2 GRXCR1 MYO15A PJVK
2 nervous system MP:0003631 9.17 CHRNA9 FSCN2 GRXCR1 MYO15A PJVK TMPRSS3

Drugs & Therapeutics for Deafness, Autosomal Recessive 25

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 25

Genetic Tests for Deafness, Autosomal Recessive 25

Genetic tests related to Deafness, Autosomal Recessive 25:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 25 29 GRXCR1

Anatomical Context for Deafness, Autosomal Recessive 25

Publications for Deafness, Autosomal Recessive 25

Articles related to Deafness, Autosomal Recessive 25:

# Title Authors PMID Year
1
Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment. 6 57 61
20137778 2010
2
Novel mutation in GRXCR1 at DFNB25 lead to progressive hearing loss and dizziness. 61
25802247 2015
3
Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse. 61
20137774 2010
4
An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss. 61
17918732 2008
5
Characterization of two transgene insertional mutations at pirouette, a mouse deafness locus. 61
15347914 2004

Variations for Deafness, Autosomal Recessive 25

ClinVar genetic disease variations for Deafness, Autosomal Recessive 25:

6 (show all 30)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GRXCR1 NM_001080476.2(GRXCR1):c.628-9C>A SNV Pathogenic 193 rs606231120 GRCh37: 4:43022362-43022362
GRCh38: 4:43020345-43020345
2 GRXCR1 NM_001080476.2(GRXCR1):c.385-2A>G SNV Pathogenic 522426 rs771844359 GRCh37: 4:42964907-42964907
GRCh38: 4:42962890-42962890
3 GRXCR1 NM_001080476.2(GRXCR1):c.229C>T (p.Gln77Ter) SNV Pathogenic 195 rs267606855 GRCh37: 4:42895512-42895512
GRCh38: 4:42893495-42893495
4 GRXCR1 NM_001080476.2(GRXCR1):c.412C>T (p.Arg138Cys) SNV Pathogenic 196 rs267606856 GRCh37: 4:42964936-42964936
GRCh38: 4:42962919-42962919
5 GRXCR1 NM_001080476.2(GRXCR1):c.627+19A>T SNV Pathogenic 194 rs201824235 GRCh37: 4:42965170-42965170
GRCh38: 4:42963153-42963153
6 GRXCR1 NM_001080476.3(GRXCR1):c.469G>T (p.Glu157Ter) SNV Pathogenic/Likely pathogenic 987829 GRCh37: 4:42964993-42964993
GRCh38: 4:42962976-42962976
7 GRXCR1 NM_001080476.3(GRXCR1):c.*65A>G SNV Uncertain significance 902813 GRCh37: 4:43032622-43032622
GRCh38: 4:43030605-43030605
8 GRXCR1 NM_001080476.3(GRXCR1):c.*6G>T SNV Uncertain significance 902812 GRCh37: 4:43032563-43032563
GRCh38: 4:43030546-43030546
9 GRXCR1 NM_001080476.2(GRXCR1):c.439C>T (p.Arg147Cys) SNV Uncertain significance 632441 rs569193097 GRCh37: 4:42964963-42964963
GRCh38: 4:42962946-42962946
10 GRXCR1 NM_001080476.3(GRXCR1):c.325G>A (p.Val109Ile) SNV Uncertain significance 901354 GRCh37: 4:42895608-42895608
GRCh38: 4:42893591-42893591
11 GRXCR1 NM_001080476.2(GRXCR1):c.785G>A (p.Arg262Gln) SNV Uncertain significance 228734 rs146696590 GRCh37: 4:43032469-43032469
GRCh38: 4:43030452-43030452
12 GRXCR1 NM_001080476.2(GRXCR1):c.358T>C (p.Phe120Leu) SNV Uncertain significance 348819 rs529420082 GRCh37: 4:42895641-42895641
GRCh38: 4:42893624-42893624
13 GRXCR1 NM_001080476.2(GRXCR1):c.331T>C (p.Tyr111His) SNV Uncertain significance 348818 rs201002003 GRCh37: 4:42895614-42895614
GRCh38: 4:42893597-42893597
14 GRXCR1 NM_001080476.2(GRXCR1):c.49C>T (p.Arg17Trp) SNV Uncertain significance 348814 rs762049276 GRCh37: 4:42895332-42895332
GRCh38: 4:42893315-42893315
15 GRXCR1 NM_001080476.2(GRXCR1):c.284G>C (p.Arg95Thr) SNV Uncertain significance 348816 rs775363257 GRCh37: 4:42895567-42895567
GRCh38: 4:42893550-42893550
16 GRXCR1 NM_001080476.2(GRXCR1):c.604T>C (p.Phe202Leu) SNV Uncertain significance 348822 rs886059418 GRCh37: 4:42965128-42965128
GRCh38: 4:42963111-42963111
17 GRXCR1 NM_001080476.2(GRXCR1):c.385-7C>T SNV Uncertain significance 348820 rs748066741 GRCh37: 4:42964902-42964902
GRCh38: 4:42962885-42962885
18 GRXCR1 NM_001080476.2(GRXCR1):c.289G>A (p.Val97Ile) SNV Uncertain significance 348817 rs186041671 GRCh37: 4:42895572-42895572
GRCh38: 4:42893555-42893555
19 GRXCR1 NM_001080476.2(GRXCR1):c.*69T>A SNV Uncertain significance 348827 rs796495255 GRCh37: 4:43032626-43032626
GRCh38: 4:43030609-43030609
20 GRXCR1 NM_001080476.2(GRXCR1):c.236G>A (p.Ser79Asn) SNV Uncertain significance 348815 rs886059416 GRCh37: 4:42895519-42895519
GRCh38: 4:42893502-42893502
21 GRXCR1 NM_001080476.2(GRXCR1):c.551A>T (p.Glu184Val) SNV Uncertain significance 348821 rs886059417 GRCh37: 4:42965075-42965075
GRCh38: 4:42963058-42963058
22 GRXCR1 NM_001080476.2(GRXCR1):c.858G>T (p.Lys286Asn) SNV Uncertain significance 348825 rs886059420 GRCh37: 4:43032542-43032542
GRCh38: 4:43030525-43030525
23 GRXCR1 NM_001080476.2(GRXCR1):c.*89G>A SNV Uncertain significance 348828 rs564643132 GRCh37: 4:43032646-43032646
GRCh38: 4:43030629-43030629
24 GRXCR1 NM_001080476.2(GRXCR1):c.745C>G (p.Pro249Ala) SNV Uncertain significance 348823 rs886059419 GRCh37: 4:43032429-43032429
GRCh38: 4:43030412-43030412
25 GRXCR1 NM_001080476.2(GRXCR1):c.777C>T (p.Ser259=) SNV Likely benign 43889 rs61733348 GRCh37: 4:43032461-43032461
GRCh38: 4:43030444-43030444
26 GRXCR1 NM_001080476.2(GRXCR1):c.25G>A (p.Glu9Lys) SNV Benign 43887 rs78136490 GRCh37: 4:42895308-42895308
GRCh38: 4:42893291-42893291
27 GRXCR1 NM_001080476.2(GRXCR1):c.140C>T (p.Ala47Val) SNV Benign 43886 rs57655409 GRCh37: 4:42895423-42895423
GRCh38: 4:42893406-42893406
28 GRXCR1 NM_001080476.2(GRXCR1):c.627+8A>C SNV Benign 43888 rs10213360 GRCh37: 4:42965159-42965159
GRCh38: 4:42963142-42963142
29 GRXCR1 NM_001080476.2(GRXCR1):c.272G>T (p.Gly91Val) SNV Benign 178379 rs113203706 GRCh37: 4:42895555-42895555
GRCh38: 4:42893538-42893538
30 GRXCR1 NM_001080476.2(GRXCR1):c.*55G>A SNV Benign 348826 rs4861050 GRCh37: 4:43032612-43032612
GRCh38: 4:43030595-43030595

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 25:

72
# Symbol AA change Variation ID SNP ID
1 GRXCR1 p.Pro38Leu VAR_063160 rs367784906
2 GRXCR1 p.Gly64Ser VAR_063162 rs370551174
3 GRXCR1 p.Arg138Cys VAR_063164 rs267606856
4 GRXCR1 p.Phe153Val VAR_063165 rs770874273

Expression for Deafness, Autosomal Recessive 25

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 25.

Pathways for Deafness, Autosomal Recessive 25

GO Terms for Deafness, Autosomal Recessive 25

Cellular components related to Deafness, Autosomal Recessive 25 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.55 PJVK MYO15A GRXCR1 FSCN2 ESPNL
2 neuronal cell body GO:0043025 9.5 TMPRSS5 TMPRSS3 PJVK
3 actin cytoskeleton GO:0015629 9.43 TRIOBP MYO15A FSCN2
4 stereocilium base GO:0120044 8.96 TRIOBP PJVK
5 stereocilium GO:0032420 8.92 MYO15A GRXCR1 FSCN2 ESPNL

Biological processes related to Deafness, Autosomal Recessive 25 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.33 TRIOBP MYO15A FSCN2
2 inner ear morphogenesis GO:0042472 9.32 MYO15A CHRNA9
3 actin filament bundle assembly GO:0051017 9.26 FSCN2 ESPNL
4 sensory perception of sound GO:0007605 9.17 TRIOBP TMPRSS3 PJVK MYO15A GRXCR1 ESPNL
5 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 8.96 PJVK CHRNA9

Molecular functions related to Deafness, Autosomal Recessive 25 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 electron transfer activity GO:0009055 9.32 GRXCR1 GLRX
2 scavenger receptor activity GO:0005044 9.26 TMPRSS5 TMPRSS3
3 actin binding GO:0003779 9.26 TRIOBP MYO15A FSCN2 ESPNL
4 protein disulfide oxidoreductase activity GO:0015035 9.16 GRXCR1 GLRX
5 actin filament binding GO:0051015 8.92 TRIOBP MYO15A FSCN2 ESPNL

Sources for Deafness, Autosomal Recessive 25

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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