DFNB31
MCID: DFN170
MIFTS: 39

Deafness, Autosomal Recessive 31 (DFNB31)

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

Aliases & Classifications for Deafness, Autosomal Recessive 31

MalaCards integrated aliases for Deafness, Autosomal Recessive 31:

Name: Deafness, Autosomal Recessive 31 57 29 13 6 70
Dfnb31 57 12 72
Autosomal Recessive Nonsyndromic Deafness 31 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 31 72
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 31 72
Deafness, Autosomal Recessive, Type 31 39
Deafness, Autosomal Recessive, 31 72
Autosomal Recessive Deafness 31 12
Whirler, Mouse, Homolog of 57

Characteristics:

OMIM®:

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

Miscellaneous:
based on reports of a consanguineous jordanian family and a tunisian family (last curated august 2015)


HPO:

31
deafness, autosomal recessive 31:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110490
OMIM® 57 607084
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C1846839
SNOMED-CT via HPO 68 258211005 60700002
UMLS 70 C1846839

Summaries for Deafness, Autosomal Recessive 31

UniProtKB/Swiss-Prot : 72 Deafness, autosomal recessive, 31: 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 31, also known as dfnb31, is related to branchiootic syndrome 1 and retinitis pigmentosa-deafness syndrome. An important gene associated with Deafness, Autosomal Recessive 31 is WHRN (Whirlin). Affiliated tissues include retina, and related phenotypes are sensorineural hearing impairment and hearing/vestibular/ear

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has material basis in mutation in the WHRN gene on chromosome 9q32.

More information from OMIM: 607084 PS220290

Related Diseases for Deafness, Autosomal Recessive 31

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

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 30.2 WHRN USH2A
2 retinitis pigmentosa-deafness syndrome 29.5 WHRN USH2A CLRN1 ADGRV1
3 autosomal recessive non-syndromic sensorineural deafness type dfnb 29.1 WHRN USH2A CIB2 ADGRV1
4 sensorineural hearing loss 28.3 WHRN USH2A PDZD7 CIB2 ADGRV1
5 usher syndrome 28.1 WHRN USH2A PDZD7 PCARE CLRN1 CIB2
6 usher syndrome type 2 28.0 WHRN USH2A PDZD7 PCARE CLRN1 CIB2
7 retinitis pigmentosa 27.8 WHRN USH2A PDZD7 PCARE CLRN1 CIB2
8 usher syndrome, type i 27.7 WHRN USH2A PDZD7 PCARE CLRN1 CIB2
9 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
10 yemenite deaf-blind hypopigmentation syndrome 10.0
11 deafness, autosomal recessive 10.0
12 neuroretinitis 10.0
13 retinitis 10.0
14 usher syndrome, type 2b 9.9 PDZD7 ADGRV1
15 deafness, autosomal dominant 56 9.9 WHRN USH2A
16 autosomal recessive disease 9.9
17 cone dystrophy 9.9
18 retinal degeneration 9.9
19 nonsyndromic hearing loss 9.9
20 nonsyndromic retinitis pigmentosa 9.9 USH2A CLRN1
21 retinitis pigmentosa 71 9.9 USH2A PCARE
22 deafness, autosomal recessive 2 9.9 WHRN PDZD7 ADGRV1
23 deafness, autosomal dominant 11 9.8 WHRN PDZD7 ADGRV1
24 usher syndrome, type ik 9.8 CLRN1 CIB2
25 late-onset retinal degeneration 9.7 WHRN USH2A ADGRV1
26 vitelliform macular dystrophy 9.7 USH2A PCARE
27 achromatopsia 9.6 USH2A PCARE
28 deafness, autosomal recessive 48 9.6 WHRN PDZD7 CIB2
29 stargardt disease 9.6 USH2A PCARE CLRN1
30 usher syndrome, type iiib 9.5 WHRN USH2A CLRN1 ADGRV1
31 deafness, autosomal recessive 23 9.5 WHRN USH2A CLRN1 ADGRV1
32 eye degenerative disease 9.5 WHRN USH2A CLRN1 ADGRV1
33 usher syndrome, type ih 9.4 WHRN CLRN1 CIB2 ADGRV1
34 deafness, autosomal recessive 57 9.4 WHRN PDZD7 CIB2 ADGRV1
35 retinal disease 9.4 USH2A PDZD7 CLRN1 ADGRV1
36 auditory system disease 9.3 WHRN USH2A CIB2 ADGRV1
37 cone-rod dystrophy 2 9.3 USH2A PCARE CLRN1 ADGRV1
38 usher syndrome, type iia 9.3 WHRN USH2A PDZD7 PCARE ADGRV1
39 bardet-biedl syndrome 9.2 WHRN USH2A PCARE CLRN1 ADGRV1
40 leber plus disease 9.2 WHRN USH2A PCARE CLRN1 ADGRV1
41 deafness, autosomal recessive 12 9.1 WHRN USH2A CLRN1 CIB2 ADGRV1
42 rare genetic deafness 9.1 WHRN USH2A CLRN1 CIB2 ADGRV1
43 digenic disease 8.8 WHRN USH2A PDZD7 CLRN1 CIB2 ADGRV1
44 usher syndrome, type ij 8.8 WHRN USH2A PDZD7 CLRN1 CIB2 ADGRV1
45 usher syndrome, type iid 8.8 WHRN USH2A PDZD7 CLRN1 CIB2 ADGRV1
46 usher syndrome, type if 8.8 WHRN USH2A PDZD7 CLRN1 CIB2 ADGRV1
47 usher syndrome, type id 8.8 WHRN USH2A PDZD7 CLRN1 CIB2 ADGRV1
48 autosomal dominant nonsyndromic deafness 8.8 WHRN USH2A PDZD7 CLRN1 CIB2 ADGRV1
49 usher syndrome, type iiia 8.8 WHRN USH2A PDZD7 CLRN1 CIB2 ADGRV1
50 usher syndrome, type iic 8.6 WHRN USH2A PDZD7 PCARE CLRN1 CIB2

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 31:



Diseases related to Deafness, Autosomal Recessive 31

Symptoms & Phenotypes for Deafness, Autosomal Recessive 31

Human phenotypes related to Deafness, Autosomal Recessive 31:

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 (bilateral, profound, and prelingual)

Clinical features from OMIM®:

607084 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 31:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.63 ADGRV1 CIB2 CLRN1 PDZD7 USH2A WHRN
2 nervous system MP:0003631 9.5 ADGRV1 CIB2 CLRN1 PCARE PDZD7 USH2A
3 vision/eye MP:0005391 9.17 ADGRV1 CIB2 CLRN1 PCARE PDZD7 USH2A

Drugs & Therapeutics for Deafness, Autosomal Recessive 31

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 31

Genetic Tests for Deafness, Autosomal Recessive 31

Genetic tests related to Deafness, Autosomal Recessive 31:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 31 29 WHRN

Anatomical Context for Deafness, Autosomal Recessive 31

MalaCards organs/tissues related to Deafness, Autosomal Recessive 31:

40
Retina

Publications for Deafness, Autosomal Recessive 31

Articles related to Deafness, Autosomal Recessive 31:

(show all 38)
# Title Authors PMID Year
1
Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss. 57 61 6
15841483 2005
2
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. 57 6 61
12833159 2003
3
DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34. 6 57 61
11973626 2002
4
Linkage analysis of the whirler deafness gene on mouse chromosome 4. 57
8088814 1994
5
Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina. 61
30831381 2019
6
Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations. 61
29142287 2017
7
Association of established hypothyroidism-associated genetic variants with Hashimoto's thyroiditis. 61
28382505 2017
8
PDZD7-MYO7A complex identified in enriched stereocilia membranes. 61
27525485 2016
9
Alternative Splice Forms Influence Functions of Whirlin in Mechanosensory Hair Cell Stereocilia. 61
27117407 2016
10
Genetics of long-term treatment outcome in bipolar disorder. 61
26297903 2016
11
Molecular studies of phenotype variation in canine RPGR-XLPRA1. 61
27122963 2016
12
A study of whirlin isoforms in the mouse vestibular system suggests potential vestibular dysfunction in DFNB31-deficient patients. 61
26420843 2015
13
Distinct expression and function of whirlin isoforms in the inner ear and retina: an insight into pathogenesis of USH2D and DFNB31. 61
26307081 2015
14
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. 61
26338283 2015
15
The PDZ-domain protein Whirlin facilitates mechanosensory signaling in mammalian proprioceptors. 61
25698744 2015
16
Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss. 61
26561413 2015
17
Regulation of synaptic development and function by the Drosophila PDZ protein Dyschronic. 61
25359729 2014
18
Targeted next generation sequencing for molecular diagnosis of Usher syndrome. 61
25404053 2014
19
Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A. 61
24194196 2014
20
Photoreceptors in whirler mice show defective transducin translocation and are susceptible to short-term light/dark changes-induced degeneration. 61
24211856 2014
21
Domain analyses of Usher syndrome causing Clarin-1 and GPR98 protein models. 61
25258483 2014
22
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. 61
24043777 2013
23
The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort. 61
23441107 2013
24
Audiological findings in 100 USH2 patients. 61
21895633 2012
25
Non-USH2A mutations in USH2 patients. 61
22147658 2012
26
RpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoforms. 61
22323458 2012
27
Whirlin interacts with espin and modulates its actin-regulatory function: an insight into the mechanism of Usher syndrome type II. 61
22048959 2012
28
Nominal association between a polymorphism in DGKH and bipolar disorder detected in a meta-analysis of East Asian case-control samples. 61
21507135 2011
29
Novel chemosensitive single-nucleotide polymorphism markers to targeted regimens in metastatic colorectal cancer. 61
21239504 2011
30
An update on the genetics of usher syndrome. 61
21234346 2011
31
A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family. 61
21738389 2011
32
Bovine pretransfer endometrium and embryo transcriptome fingerprints as predictors of pregnancy success after embryo transfer. 61
20388838 2010
33
Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin. 61
20352026 2010
34
Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family. 61
18854872 2009
35
Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment. 61
19028668 2009
36
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss. 61
17171570 2007
37
The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. 61
16434480 2006
38
Stereocilia: the long and the short of it. 61
14604820 2003

Variations for Deafness, Autosomal Recessive 31

ClinVar genetic disease variations for Deafness, Autosomal Recessive 31:

6 (show top 50) (show all 135)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WHRN NM_015404.4(WHRN):c.2332C>T (p.Arg778Ter) SNV Pathogenic 2689 rs137852839 GRCh37: 9:117166262-117166262
GRCh38: 9:114403982-114403982
2 WHRN NM_015404.4(WHRN):c.2423del (p.Gly808fs) Deletion Pathogenic 208207 rs869320674 GRCh37: 9:117165615-117165615
GRCh38: 9:114403335-114403335
3 WHRN NM_015404.4(WHRN):c.26C>A (p.Ser9Ter) SNV Pathogenic 627492 rs776268964 GRCh37: 9:117267056-117267056
GRCh38: 9:114504776-114504776
4 WHRN NM_015404.4(WHRN):c.23_26dup (p.Ser11fs) Duplication Pathogenic 1031913 GRCh37: 9:117267055-117267056
GRCh38: 9:114504775-114504776
5 WHRN NM_015404.4(WHRN):c.2644C>T (p.Arg882Cys) SNV Uncertain significance 180119 rs150586098 GRCh37: 9:117165114-117165114
GRCh38: 9:114402834-114402834
6 WHRN NM_015404.4(WHRN):c.191C>A (p.Ala64Asp) SNV Uncertain significance 45664 rs146655362 GRCh37: 9:117266891-117266891
GRCh38: 9:114504611-114504611
7 WHRN NM_015404.4(WHRN):c.191C>A (p.Ala64Asp) SNV Uncertain significance 45664 rs146655362 GRCh37: 9:117266891-117266891
GRCh38: 9:114504611-114504611
8 WHRN NM_015404.4(WHRN):c.229A>T (p.Thr77Ser) SNV Uncertain significance 45671 rs56204273 GRCh37: 9:117266853-117266853
GRCh38: 9:114504573-114504573
9 WHRN NM_015404.4(WHRN):c.2419C>G (p.Pro807Ala) SNV Uncertain significance 593108 rs569112844 GRCh37: 9:117165619-117165619
GRCh38: 9:114403339-114403339
10 WHRN NM_015404.4(WHRN):c.1018G>A (p.Asp340Asn) SNV Uncertain significance 1031912 GRCh37: 9:117188639-117188639
GRCh38: 9:114426359-114426359
11 WHRN NM_015404.4(WHRN):c.*583C>T SNV Uncertain significance 912413 GRCh37: 9:117164451-117164451
GRCh38: 9:114402171-114402171
12 WHRN NM_015404.4(WHRN):c.*495T>C SNV Uncertain significance 912414 GRCh37: 9:117164539-117164539
GRCh38: 9:114402259-114402259
13 WHRN NM_015404.4(WHRN):c.668G>A (p.Arg223His) SNV Uncertain significance 45681 rs146273185 GRCh37: 9:117241002-117241002
GRCh38: 9:114478722-114478722
14 WHRN NM_015404.4(WHRN):c.2322C>T (p.Ser774=) SNV Uncertain significance 227292 rs55966714 GRCh37: 9:117166272-117166272
GRCh38: 9:114403992-114403992
15 WHRN NM_015404.4(WHRN):c.1365T>C (p.Ser455=) SNV Uncertain significance 45652 rs111033459 GRCh37: 9:117186665-117186665
GRCh38: 9:114424385-114424385
16 WHRN NM_015404.4(WHRN):c.2439G>A (p.Thr813=) SNV Uncertain significance 45675 rs61743618 GRCh37: 9:117165599-117165599
GRCh38: 9:114403319-114403319
17 WHRN NM_015404.4(WHRN):c.2046G>C (p.Arg682=) SNV Uncertain significance 45665 rs35258467 GRCh37: 9:117168825-117168825
GRCh38: 9:114406545-114406545
18 WHRN NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu) SNV Uncertain significance 45654 rs79572315 GRCh37: 9:117185766-117185766
GRCh38: 9:114423486-114423486
19 WHRN NM_015404.4(WHRN):c.667C>T (p.Arg223Cys) SNV Uncertain significance 45680 rs76593842 GRCh37: 9:117241003-117241003
GRCh38: 9:114478723-114478723
20 WHRN NM_015404.4(WHRN):c.2237-10C>G SNV Uncertain significance 193718 rs200131193 GRCh37: 9:117166367-117166367
GRCh38: 9:114404087-114404087
21 WHRN NM_015404.4(WHRN):c.2383C>T (p.Arg795Trp) SNV Uncertain significance 364679 rs545286422 GRCh37: 9:117166211-117166211
GRCh38: 9:114403931-114403931
22 WHRN NM_015404.4(WHRN):c.328A>G (p.Thr110Ala) SNV Uncertain significance 178844 rs572312301 GRCh37: 9:117266754-117266754
GRCh38: 9:114504474-114504474
23 WHRN NM_015404.4(WHRN):c.2665A>G (p.Lys889Glu) SNV Uncertain significance 912450 GRCh37: 9:117165093-117165093
GRCh38: 9:114402813-114402813
24 WHRN NM_015404.4(WHRN):c.1148C>A (p.Thr383Asn) SNV Uncertain significance 163051 rs147283064 GRCh37: 9:117188509-117188509
GRCh38: 9:114426229-114426229
25 WHRN NM_015404.4(WHRN):c.2354C>T (p.Thr785Ile) SNV Uncertain significance 45673 rs201555289 GRCh37: 9:117166240-117166240
GRCh38: 9:114403960-114403960
26 WHRN NM_015404.4(WHRN):c.1072G>A (p.Asp358Asn) SNV Uncertain significance 913731 GRCh37: 9:117188585-117188585
GRCh38: 9:114426305-114426305
27 WHRN NM_015404.4(WHRN):c.324A>G (p.Gln108=) SNV Uncertain significance 913776 GRCh37: 9:117266758-117266758
GRCh38: 9:114504478-114504478
28 WHRN NM_015404.4(WHRN):c.1627-5T>A SNV Uncertain significance 163048 rs187221008 GRCh37: 9:117170303-117170303
GRCh38: 9:114408023-114408023
29 WHRN NM_015404.4(WHRN):c.1892C>T (p.Ala631Val) SNV Uncertain significance 364685 rs141168514 GRCh37: 9:117168979-117168979
GRCh38: 9:114406699-114406699
30 WHRN NM_015404.4(WHRN):c.2231C>T (p.Thr744Met) SNV Uncertain significance 914000 GRCh37: 9:117168640-117168640
GRCh38: 9:114406360-114406360
31 WHRN NM_015404.4(WHRN):c.1349G>A (p.Arg450His) SNV Uncertain significance 45648 rs200377723 GRCh37: 9:117186681-117186681
GRCh38: 9:114424401-114424401
32 WHRN NM_015404.4(WHRN):c.139A>G (p.Thr47Ala) SNV Uncertain significance 517373 rs556585167 GRCh37: 9:117266943-117266943
GRCh38: 9:114504663-114504663
33 WHRN NM_015404.4(WHRN):c.33C>G (p.Ser11Arg) SNV Uncertain significance 45677 rs45527543 GRCh37: 9:117267049-117267049
GRCh38: 9:114504769-114504769
34 WHRN NM_015404.4(WHRN):c.1166G>A (p.Gly389Glu) SNV Uncertain significance 914596 GRCh37: 9:117188491-117188491
GRCh38: 9:114426211-114426211
35 WHRN NM_015404.4(WHRN):c.1469G>A (p.Arg490His) SNV Uncertain significance 156029 rs587776360 GRCh37: 9:117185751-117185751
GRCh38: 9:114423471-114423471
36 WHRN NM_015404.4(WHRN):c.2633G>A (p.Arg878Gln) SNV Uncertain significance 912452 GRCh37: 9:117165125-117165125
GRCh38: 9:114402845-114402845
37 WHRN NM_015404.4(WHRN):c.695A>C (p.His232Pro) SNV Uncertain significance 914632 GRCh37: 9:117240975-117240975
GRCh38: 9:114478695-114478695
38 WHRN NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg) SNV Uncertain significance 203387 rs139279977 GRCh37: 9:117168844-117168844
GRCh38: 9:114406564-114406564
39 WHRN NM_015404.4(WHRN):c.958C>T (p.Leu320Phe) SNV Uncertain significance 811003 rs780855079 GRCh37: 9:117228552-117228552
GRCh38: 9:114466272-114466272
40 WHRN NM_015404.4(WHRN):c.*188A>T SNV Uncertain significance 364674 rs549537695 GRCh37: 9:117164846-117164846
GRCh38: 9:114402566-114402566
41 WHRN NM_015404.4(WHRN):c.1075G>A (p.Val359Ile) SNV Uncertain significance 288922 rs147500559 GRCh37: 9:117188582-117188582
GRCh38: 9:114426302-114426302
42 WHRN NM_015404.4(WHRN):c.*156G>A SNV Uncertain significance 364676 rs567661962 GRCh37: 9:117164878-117164878
GRCh38: 9:114402598-114402598
43 WHRN NM_015404.4(WHRN):c.955G>T (p.Gly319Trp) SNV Uncertain significance 178338 rs143165834 GRCh37: 9:117228555-117228555
GRCh38: 9:114466275-114466275
44 WHRN NM_015404.4(WHRN):c.2173G>C (p.Glu725Gln) SNV Uncertain significance 364683 rs376805417 GRCh37: 9:117168698-117168698
GRCh38: 9:114406418-114406418
45 WHRN NM_015404.4(WHRN):c.1305C>T (p.Asn435=) SNV Uncertain significance 364691 rs150407952 GRCh37: 9:117186725-117186725
GRCh38: 9:114424445-114424445
46 WHRN NM_015404.4(WHRN):c.2261C>T (p.Ser754Leu) SNV Uncertain significance 364681 rs768714315 GRCh37: 9:117166333-117166333
GRCh38: 9:114404053-114404053
47 WHRN NM_015404.4(WHRN):c.-483G>A SNV Uncertain significance 364705 rs886063374 GRCh37: 9:117267564-117267564
GRCh38: 9:114505284-114505284
48 WHRN NM_015404.4(WHRN):c.-583C>T SNV Uncertain significance 364710 rs755158483 GRCh37: 9:117267664-117267664
GRCh38: 9:114505384-114505384
49 WHRN NM_015404.4(WHRN):c.1161G>A (p.Ser387=) SNV Uncertain significance 364693 rs201105262 GRCh37: 9:117188496-117188496
GRCh38: 9:114426216-114426216
50 WHRN NM_015404.4(WHRN):c.1160C>T (p.Ser387Leu) SNV Uncertain significance 364694 rs763451514 GRCh37: 9:117188497-117188497
GRCh38: 9:114426217-114426217

Expression for Deafness, Autosomal Recessive 31

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 31.

Pathways for Deafness, Autosomal Recessive 31

GO Terms for Deafness, Autosomal Recessive 31

Cellular components related to Deafness, Autosomal Recessive 31 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.01 WHRN USH2A PDZD7 CLRN1 CIB2 ADGRV1
2 cell projection GO:0042995 9.88 WHRN USH2A PDZD7 PCARE CIB2 ADGRV1
3 cilium GO:0005929 9.78 WHRN PDZD7 PCARE CIB2
4 stereocilium GO:0032420 9.72 WHRN PDZD7 CLRN1 CIB2 ADGRV1
5 photoreceptor connecting cilium GO:0032391 9.61 WHRN USH2A PDZD7
6 stereocilia ankle link complex GO:0002142 9.56 WHRN USH2A PDZD7 ADGRV1
7 periciliary membrane compartment GO:1990075 9.54 WHRN USH2A ADGRV1
8 photoreceptor outer segment GO:0001750 9.52 PCARE CIB2
9 stereocilium tip GO:0032426 9.51 WHRN PDZD7
10 stereocilium bundle GO:0032421 9.49 WHRN USH2A
11 stereocilium membrane GO:0060171 9.46 USH2A ADGRV1
12 USH2 complex GO:1990696 9.46 WHRN USH2A PDZD7 ADGRV1
13 stereocilia ankle link GO:0002141 9.26 WHRN USH2A PDZD7 ADGRV1
14 photoreceptor inner segment GO:0001917 9.1 WHRN USH2A PDZD7 PCARE CIB2 ADGRV1

Biological processes related to Deafness, Autosomal Recessive 31 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.78 USH2A PCARE CLRN1 ADGRV1
2 visual perception GO:0007601 9.71 USH2A PCARE CLRN1 ADGRV1
3 photoreceptor cell maintenance GO:0045494 9.56 USH2A CLRN1 CIB2 ADGRV1
4 auditory receptor cell stereocilium organization GO:0060088 9.54 WHRN PDZD7 CLRN1
5 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.5 WHRN PDZD7 ADGRV1
6 inner ear receptor cell stereocilium organization GO:0060122 9.49 WHRN ADGRV1
7 auditory receptor cell development GO:0060117 9.46 PDZD7 CLRN1
8 establishment of protein localization GO:0045184 9.46 WHRN USH2A PDZD7 ADGRV1
9 maintenance of animal organ identity GO:0048496 9.43 USH2A ADGRV1
10 sensory perception of sound GO:0007605 9.35 WHRN USH2A PDZD7 CLRN1 ADGRV1
11 sensory perception of light stimulus GO:0050953 8.92 WHRN USH2A CLRN1 ADGRV1

Sources for Deafness, Autosomal Recessive 31

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
Content
Loading form....