DFNB59
MCID: DFN178
MIFTS: 32

Deafness, Autosomal Recessive 59 (DFNB59)

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

Aliases & Classifications for Deafness, Autosomal Recessive 59

MalaCards integrated aliases for Deafness, Autosomal Recessive 59:

Name: Deafness, Autosomal Recessive 59 57 29 13 6 70
Dfnb59 57 12 72
Autosomal Recessive Nonsyndromic Deafness 59 12 15
Deafness, Autosomal Recessive, Type 59 39
Deafness, Autosomal Recessive, 59 72
Autosomal Recessive Deafness 59 12
Dfnb59 Auditory Neuropathy 72

Characteristics:

OMIM®:

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

Miscellaneous:
hearing loss was progressive in some patients


HPO:

31
deafness, autosomal recessive 59:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110511
OMIM® 57 610220
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C1857744
SNOMED-CT via HPO 68 258211005 60700002
UMLS 70 C1857744

Summaries for Deafness, Autosomal Recessive 59

UniProtKB/Swiss-Prot : 72 Deafness, autosomal recessive, 59: A form of sensorineural hearing impairment with absent or severely abnormal auditory brainstem response but normal otoacoustic emissions (auditory neuropathy or auditory dys-synchrony). Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem.

MalaCards based summary : Deafness, Autosomal Recessive 59, also known as dfnb59, is related to auditory neuropathy spectrum disorder and branchiootic syndrome 1. An important gene associated with Deafness, Autosomal Recessive 59 is PJVK (Pejvakin). Related phenotypes are sensorineural hearing impairment and hearing/vestibular/ear

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 DFNB59 gene on chromosome 2q31.

More information from OMIM: 610220 PS220290

Related Diseases for Deafness, Autosomal Recessive 59

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

(show all 38)
# Related Disease Score Top Affiliating Genes
1 auditory neuropathy spectrum disorder 30.3 PJVK OTOF
2 branchiootic syndrome 1 30.0 PJVK OTOF
3 nonsyndromic hearing loss 29.4 PJVK OTOF
4 rare genetic deafness 29.2 PJVK OTOF
5 autosomal recessive non-syndromic sensorineural deafness type dfnb 10.1
6 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
7 neuropathy 10.0
8 dystonia 16 10.0 PRKRA PJVK
9 deafness, autosomal recessive 10.0 PJVK OTOF
10 deafness, autosomal recessive 8 10.0 PJVK OTOF
11 deafness, autosomal recessive 85 10.0 PJVK OTOF
12 deafness, autosomal recessive 83 10.0 PJVK OTOF
13 deafness, autosomal recessive 9 10.0 PJVK OTOF
14 deafness, autosomal recessive 93 10.0 PJVK OTOF
15 autosomal recessive nonsyndromic deafness 3 10.0 PJVK OTOF
16 deafness, autosomal recessive 7 10.0 PJVK OTOF
17 auditory neuropathy, autosomal dominant, 1 9.9 PJVK OTOF
18 deafness, autosomal recessive 2 9.9 PJVK OTOF
19 deafness, x-linked 5, with peripheral neuropathy 9.9 PJVK OTOF
20 deafness, autosomal recessive 1a 9.9 PJVK OTOF
21 usher syndrome, type i 9.9 PJVK OTOF
22 deafness, autosomal recessive 12 9.9 PJVK OTOF
23 cone-rod dystrophy 2 9.9
24 retinitis pigmentosa 9.9
25 deafness, autosomal dominant 5 9.9
26 deafness, autosomal recessive 27 9.9
27 retinitis pigmentosa 38 9.9
28 neuroretinitis 9.9
29 retinitis 9.9
30 retinal degeneration 9.9
31 nonsyndromic deafness 9.9
32 otof-related deafness 9.9
33 usher syndrome, type id 9.9 PEX26 OTOF
34 auditory system disease 9.9 PJVK OTOF
35 otosclerosis 9.8 PJVK OTOF
36 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.8 PJVK OTOF
37 autosomal dominant nonsyndromic deafness 9.8 PJVK OTOF
38 usher syndrome 9.6 PJVK PEX26 OTOF

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 59:



Diseases related to Deafness, Autosomal Recessive 59

Symptoms & Phenotypes for Deafness, Autosomal Recessive 59

Human phenotypes related to Deafness, Autosomal Recessive 59:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, sensorineural, (mild to profound)

Clinical features from OMIM®:

610220 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 59:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.8 OTOF PJVK PRKRA

Drugs & Therapeutics for Deafness, Autosomal Recessive 59

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 59

Genetic Tests for Deafness, Autosomal Recessive 59

Genetic tests related to Deafness, Autosomal Recessive 59:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 59 29 PJVK

Anatomical Context for Deafness, Autosomal Recessive 59

Publications for Deafness, Autosomal Recessive 59

Articles related to Deafness, Autosomal Recessive 59:

(show all 23)
# Title Authors PMID Year
1
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment. 61 57 6
17373699 2007
2
Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction. 61 57 6
17301963 2007
3
A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function. 61 6 57
17329413 2007
4
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy. 57 6 61
16804542 2006
5
Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families. 6
17718865 2007
6
Generation and pathological characterization of a transgenic mouse model carrying a missense PJVK mutation. 61
32917362 2020
7
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families. 61
32682410 2020
8
Gasdermins: pore-forming activities and beyond. 61
32294153 2020
9
Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort. 61
31389194 2019
10
Structural Insight of Gasdermin Family Driving Pyroptotic Cell Death. 61
31628657 2019
11
Monitoring gasdermin pore formation in vitro. 61
31455540 2019
12
Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families. 61
28964305 2017
13
Conditional deletion of pejvakin in adult outer hair cells causes progressive hearing loss in mice. 61
28089576 2017
14
Pejvakin, a Candidate Stereociliary Rootlet Protein, Regulates Hair Cell Function in a Cell-Autonomous Manner. 61
28209736 2017
15
Molecular study of patients with auditory neuropathy. 61
27177047 2016
16
Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients. 61
27260575 2016
17
Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing. 61
26166082 2015
18
Distribution of pejvakin in human spiral ganglion: An immunohistochemical study. 61
23407324 2013
19
High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel. 61
21696384 2012
20
A p.C343S missense mutation in PJVK causes progressive hearing loss. 61
22617256 2012
21
[Mutational analysis of candidate genes in a Chinese pedigree with dominantly inherited auditory neuropathy]. 61
22870719 2012
22
Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder. 61
21935370 2011
23
[Sequence analysis of DFNB59 gene in a Chinese family with dominantly inherited auditory neuropathy]. 61
19160860 2008

Variations for Deafness, Autosomal Recessive 59

ClinVar genetic disease variations for Deafness, Autosomal Recessive 59:

6 (show all 45)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PJVK NM_001042702.5(PJVK):c.161C>T (p.Thr54Ile) SNV Pathogenic 1298 rs118203988 GRCh37: 2:179318297-179318297
GRCh38: 2:178453570-178453570
2 PJVK NM_001042702.5(PJVK):c.726del (p.Phe242fs) Deletion Pathogenic 1301 rs1559371613 GRCh37: 2:179325131-179325131
GRCh38: 2:178460404-178460404
3 PJVK NM_001042702.5(PJVK):c.988del (p.Val330fs) Deletion Pathogenic 1302 rs1559372640 GRCh37: 2:179325930-179325930
GRCh38: 2:178461203-178461203
4 PJVK NM_001042702.5(PJVK):c.122del (p.Lys41fs) Deletion Pathogenic 1303 rs1559366000 GRCh37: 2:179318257-179318257
GRCh38: 2:178453530-178453530
5 PJVK NM_001042702.5(PJVK):c.113dup (p.Lys41fs) Duplication Pathogenic 1299 rs1559365985 GRCh37: 2:179318248-179318249
GRCh38: 2:178453521-178453522
6 PJVK NM_001042702.5(PJVK):c.499C>T (p.Arg167Ter) SNV Pathogenic 1300 rs118203989 GRCh37: 2:179320828-179320828
GRCh38: 2:178456101-178456101
7 PJVK NM_001042702.5(PJVK):c.547C>T (p.Arg183Trp) SNV Pathogenic 1297 rs111706634 GRCh37: 2:179320876-179320876
GRCh38: 2:178456149-178456149
8 PJVK NM_001353775.1(PJVK):c.914_916ACA[1] (p.Asn306del) Microsatellite Pathogenic 562095 rs1559372512 GRCh37: 2:179325847-179325849
GRCh38: 2:178461120-178461122
9 PJVK NM_001042702.5(PJVK):c.86A>G (p.Asp29Gly) SNV Uncertain significance 43872 rs200502817 GRCh37: 2:179318222-179318222
GRCh38: 2:178453495-178453495
10 PJVK NM_001042702.4(PJVK):c.250T>A (p.Ser84Thr) SNV Uncertain significance 290802 rs200507933 GRCh37: 2:179319097-179319097
GRCh38: 2:178454370-178454370
11 PJVK NM_001042702.5(PJVK):c.766+8T>C SNV Uncertain significance 178339 rs185220846 GRCh37: 2:179325181-179325181
GRCh38: 2:178460454-178460454
12 PJVK NM_001042702.4(PJVK):c.-22-6T>A SNV Uncertain significance 332658 rs144704250 GRCh37: 2:179318109-179318109
GRCh38: 2:178453382-178453382
13 PJVK NM_001042702.5(PJVK):c.793C>G (p.Arg265Gly) SNV Uncertain significance 43870 rs17304212 GRCh37: 2:179325735-179325735
GRCh38: 2:178461008-178461008
14 PJVK NM_001042702.5(PJVK):c.793C>T (p.Arg265Cys) SNV Uncertain significance 43871 rs17304212 GRCh37: 2:179325735-179325735
GRCh38: 2:178461008-178461008
15 PJVK NM_001042702.5(PJVK):c.*2A>C SNV Uncertain significance 226561 rs200811582 GRCh37: 2:179326003-179326003
GRCh38: 2:178461276-178461276
16 PJVK NM_001042702.5(PJVK):c.212-12C>A SNV Uncertain significance 163061 rs199967536 GRCh37: 2:179319047-179319047
GRCh38: 2:178454320-178454320
17 PJVK NM_001042702.5(PJVK):c.405A>C (p.Thr135=) SNV Uncertain significance 163062 rs373800401 GRCh37: 2:179319252-179319252
GRCh38: 2:178454525-178454525
18 PJVK NM_001042702.5(PJVK):c.437G>A (p.Arg146His) SNV Uncertain significance 43868 rs369805509 GRCh37: 2:179320766-179320766
GRCh38: 2:178456039-178456039
19 PJVK NM_001042702.4(PJVK):c.794G>A (p.Arg265His) SNV Uncertain significance 288934 rs199841343 GRCh37: 2:179325736-179325736
GRCh38: 2:178461009-178461009
20 PJVK NM_001042702.4(PJVK):c.548G>A (p.Arg183Gln) SNV Uncertain significance 499356 rs760036509 GRCh37: 2:179320877-179320877
GRCh38: 2:178456150-178456150
21 PJVK NM_001042702.4(PJVK):c.-303G>A SNV Uncertain significance 332646 rs114119504 GRCh37: 2:179316216-179316216
GRCh38: 2:178451489-178451489
22 PJVK NM_001042702.5(PJVK):c.-232A>G SNV Uncertain significance 893043 GRCh37: 2:179316287-179316287
GRCh38: 2:178451560-178451560
23 PJVK NM_001042702.5(PJVK):c.-84C>T SNV Uncertain significance 893044 GRCh37: 2:179316435-179316435
GRCh38: 2:178451708-178451708
24 PJVK NM_001042702.5(PJVK):c.887G>C (p.Arg296Pro) SNV Uncertain significance 893089 GRCh37: 2:179325829-179325829
GRCh38: 2:178461102-178461102
25 PJVK NM_001042702.5(PJVK):c.*20G>A SNV Uncertain significance 893090 GRCh37: 2:179326021-179326021
GRCh38: 2:178461294-178461294
26 PJVK NM_001042702.5(PJVK):c.216T>C (p.Ile72=) SNV Uncertain significance 894113 GRCh37: 2:179319063-179319063
GRCh38: 2:178454336-178454336
27 PJVK NM_001042702.5(PJVK):c.297C>T (p.Asp99=) SNV Uncertain significance 894114 GRCh37: 2:179319144-179319144
GRCh38: 2:178454417-178454417
28 PJVK NM_001042702.5(PJVK):c.450C>T (p.Ser150=) SNV Uncertain significance 894509 GRCh37: 2:179320779-179320779
GRCh38: 2:178456052-178456052
29 PJVK NM_001042702.5(PJVK):c.525T>G (p.Ala175=) SNV Uncertain significance 894510 GRCh37: 2:179320854-179320854
GRCh38: 2:178456127-178456127
30 PJVK NM_001042702.4(PJVK):c.778A>G (p.Met260Val) SNV Uncertain significance 332661 rs201237972 GRCh37: 2:179325720-179325720
GRCh38: 2:178460993-178460993
31 PJVK NM_001042702.4(PJVK):c.-49G>T SNV Uncertain significance 332656 rs886055211 GRCh37: 2:179316470-179316470
GRCh38: 2:178451743-178451743
32 PJVK NM_001042702.4(PJVK):c.753C>A (p.Ile251=) SNV Uncertain significance 332660 rs886055212 GRCh37: 2:179325160-179325160
GRCh38: 2:178460433-178460433
33 PJVK NM_001042702.4(PJVK):c.-124G>A SNV Uncertain significance 332651 rs886055207 GRCh37: 2:179316395-179316395
GRCh38: 2:178451668-178451668
34 PJVK NM_001042702.4(PJVK):c.-73C>T SNV Uncertain significance 332654 rs573551830 GRCh37: 2:179316446-179316446
GRCh38: 2:178451719-178451719
35 PJVK NM_001042702.4(PJVK):c.-112G>T SNV Uncertain significance 332652 rs886055208 GRCh37: 2:179316407-179316407
GRCh38: 2:178451680-178451680
36 PJVK NM_001042702.4(PJVK):c.-234C>T SNV Uncertain significance 332649 rs555344314 GRCh37: 2:179316285-179316285
GRCh38: 2:178451558-178451558
37 PJVK NM_001042702.4(PJVK):c.-64C>T SNV Uncertain significance 332655 rs886055210 GRCh37: 2:179316455-179316455
GRCh38: 2:178451728-178451728
38 PJVK NM_001042702.4(PJVK):c.298G>A (p.Val100Ile) SNV Uncertain significance 332659 rs200516108 GRCh37: 2:179319145-179319145
GRCh38: 2:178454418-178454418
39 PJVK NM_001042702.4(PJVK):c.-283C>G SNV Uncertain significance 332647 rs886055206 GRCh37: 2:179316236-179316236
GRCh38: 2:178451509-178451509
40 PJVK NM_001042702.4(PJVK):c.-82C>T SNV Uncertain significance 332653 rs886055209 GRCh37: 2:179316437-179316437
GRCh38: 2:178451710-178451710
41 PJVK NM_001042702.4(PJVK):c.-201C>G SNV Uncertain significance 332650 rs796484753 GRCh37: 2:179316318-179316318
GRCh38: 2:178451591-178451591
42 PJVK NM_001042702.4(PJVK):c.-263G>A SNV Uncertain significance 332648 rs116368316 GRCh37: 2:179316256-179316256
GRCh38: 2:178451529-178451529
43 PJVK NM_001042702.4(PJVK):c.-45T>A SNV Uncertain significance 332657 rs74435413 GRCh37: 2:179316474-179316474
GRCh38: 2:178451747-178451747
44 PRKRA , PJVK NM_001042702.4(PJVK):c.-28C>G SNV Likely benign 369319 rs74808009 GRCh37: 2:179316491-179316491
GRCh38: 2:178451764-178451764
45 PJVK NM_001042702.5(PJVK):c.874G>A (p.Gly292Arg) SNV Likely benign 43873 rs79399438 GRCh37: 2:179325816-179325816
GRCh38: 2:178461089-178461089

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 59:

72
# Symbol AA change Variation ID SNP ID
1 PJVK p.Thr54Ile VAR_027387 rs118203988
2 PJVK p.Arg183Trp VAR_027388 rs111706634
3 PJVK p.Cys343Ser VAR_068891 rs569088856

Expression for Deafness, Autosomal Recessive 59

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 59.

Pathways for Deafness, Autosomal Recessive 59

GO Terms for Deafness, Autosomal Recessive 59

Cellular components related to Deafness, Autosomal Recessive 59 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peroxisome GO:0005777 8.96 PJVK PEX26
2 peroxisomal membrane GO:0005778 8.62 PJVK PEX26

Biological processes related to Deafness, Autosomal Recessive 59 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 8.62 PJVK OTOF

Sources for Deafness, Autosomal Recessive 59

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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