DFNB35
MCID: DFN111
MIFTS: 35

Deafness, Autosomal Recessive 35 (DFNB35)

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

Aliases & Classifications for Deafness, Autosomal Recessive 35

MalaCards integrated aliases for Deafness, Autosomal Recessive 35:

Name: Deafness, Autosomal Recessive 35 57 29 13 6 70
Dfnb35 57 12 72
Autosomal Recessive Nonsyndromic Deafness 35 12 15
Deafness, Autosomal Recessive, Type 35 39
Deafness, Autosomal Recessive, 35 72
Autosomal Recessive Deafness 35 12

Characteristics:

OMIM®:

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


HPO:

31
deafness, autosomal recessive 35:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110493
OMIM® 57 608565
OMIM Phenotypic Series 57 PS220290
MeSH 44 D003638
ICD10 32 H90.3
MedGen 41 C1837857
SNOMED-CT via HPO 68 258211005 60700002
UMLS 70 C1837857

Summaries for Deafness, Autosomal Recessive 35

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized severe to profound hearing loss and has material basis in mutation in the ESRRB gene on chromosome 14q24.

MalaCards based summary : Deafness, Autosomal Recessive 35, also known as dfnb35, is related to deafness, autosomal recessive 5 and deafness, autosomal recessive 8. An important gene associated with Deafness, Autosomal Recessive 35 is ESRRB (Estrogen Related Receptor Beta). Related phenotypes are sensorineural hearing impairment and behavior/neurological

UniProtKB/Swiss-Prot : 72 Deafness, autosomal recessive, 35: A form of non-syndromic deafness characterized by non-progressive, prelingual hearing loss.

More information from OMIM: 608565 PS220290

Related Diseases for Deafness, Autosomal Recessive 35

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

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 5 30.0 TMIE STXBP6
2 deafness, autosomal recessive 8 29.8 TMPRSS3 PJVK
3 deafness, autosomal recessive 13 29.5 TMPRSS3 PJVK GRXCR1
4 branchiootic syndrome 1 29.2 PJVK GRXCR1 CDH23
5 autosomal recessive nonsyndromic deafness 28.7 TRIOBP TMPRSS3 TMIE LRTOMT CDH23
6 nonsyndromic hearing loss 28.5 TRIOBP TMPRSS3 TMIE PJVK CDH23
7 rare genetic deafness 27.8 TMPRSS3 TMIE PJVK OTOA LRTOMT GRXCR1
8 autosomal recessive non-syndromic sensorineural deafness type dfnb 27.3 TRIOBP TMPRSS3 TMIE PJVK OTOA LRTOMT
9 deafness, autosomal dominant 27 10.2 TMIE GRXCR1
10 autosomal recessive nonsyndromic deafness 36 10.1 TRIOBP GRXCR1
11 deafness, autosomal dominant 2b 10.1 TRIOBP CABP2
12 deafness, autosomal recessive 27 10.1 TMIE PJVK
13 deafness, autosomal recessive 61 10.1 TRIOBP OTOA
14 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
15 deafness, autosomal recessive 85 10.0 PJVK OTOA
16 autosomal recessive nonsyndromic deafness 32 10.0 PJVK OTOA
17 deafness, autosomal recessive 53 10.0 PJVK LRTOMT
18 auditory neuropathy, autosomal dominant, 1 10.0 PJVK GRXCR1
19 erythrokeratodermia variabilis et progressiva 1 9.9 TMIE OTOA
20 deafness, autosomal recessive 55 9.9 GRXCR1 CDH23
21 charcot-marie-tooth disease x-linked recessive 4 9.9 PJVK CABP2
22 deafness, autosomal recessive 40 9.9 GRXCR1 CDH23
23 usher syndrome, type ic 9.9 TMIE CDH23
24 deafness, autosomal dominant 9 9.9
25 deafness, autosomal dominant 23 9.9
26 nonsyndromic deafness 9.9
27 deafness, autosomal recessive 1a 9.8 PJVK OTOA
28 deafness, autosomal dominant 36 9.8 TMIE CDH23
29 deafness, autosomal recessive 91 9.8 OTOA CDH23
30 deafness, autosomal recessive 39 9.8 TRIOBP TMPRSS3 OTOA
31 deafness, autosomal recessive 2 9.8 PJVK CDH23
32 deafness, autosomal recessive 21 9.8 PJVK OTOA LRTOMT
33 deafness, autosomal recessive 24 9.8 TRIOBP PJVK LRTOMT
34 hereditary hearing loss and deafness 9.8 GRXCR1 ESRRB CDH23
35 usher syndrome, type id 9.8 TMIE CDH23
36 deafness, autosomal recessive 16 9.7 TMIE OTOA CDH23
37 deafness, autosomal recessive 67 9.7 TMIE PJVK LRTOMT CABP2
38 y-linked monogenic disease 9.7 TMPRSS3 TMIE CDH23
39 vestibular disease 9.7 TMPRSS3 CDH23
40 deafness, autosomal recessive 63 9.7 TMIE PJVK OTOA LRTOMT
41 deafness, autosomal recessive 22 9.6 TRIOBP TMIE PJVK OTOA
42 autosomal recessive nonsyndromic deafness 3 9.6 PJVK LRTOMT CDH23
43 usher syndrome, type iia 9.6 TMPRSS3 OTOA CDH23
44 deafness, autosomal recessive 28 9.6 TRIOBP TMIE OTOA GRXCR1 CABP2
45 deafness, autosomal recessive 25 9.6 TRIOBP TMPRSS3 PJVK GRXCR1
46 deafness, autosomal recessive 77 9.5 TMPRSS3 PJVK CDH23
47 non-syndromic genetic deafness 9.5 TRIOBP CDH23
48 autosomal dominant non-syndromic sensorineural deafness type dfna 9.5 GRXCR1 ESRRB CDH23 CABP2
49 deafness, autosomal recessive 93 9.5 TRIOBP TMIE PJVK LRTOMT CABP2
50 deafness, autosomal recessive 7 9.5 TMIE PJVK LRTOMT CDH23

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 35:



Diseases related to Deafness, Autosomal Recessive 35

Symptoms & Phenotypes for Deafness, Autosomal Recessive 35

Human phenotypes related to Deafness, Autosomal Recessive 35:

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, bilateral sensorineural, severe-to-profound
no abnormalities of vestibular function
transient otoacoustic emission spectra absent indicating a deficiency of outer hair cell function

Clinical features from OMIM®:

608565 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 35:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.81 CABP2 CDH23 ESRRB GRXCR1 LRTOMT PJVK
2 hearing/vestibular/ear MP:0005377 9.65 CABP2 CDH23 ESRRB GRXCR1 LRTOMT OTOA
3 nervous system MP:0003631 9.28 CABP2 CDH23 GRXCR1 LRTOMT OTOA PJVK

Drugs & Therapeutics for Deafness, Autosomal Recessive 35

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 35

Genetic Tests for Deafness, Autosomal Recessive 35

Genetic tests related to Deafness, Autosomal Recessive 35:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 35 29 ESRRB

Anatomical Context for Deafness, Autosomal Recessive 35

Publications for Deafness, Autosomal Recessive 35

Articles related to Deafness, Autosomal Recessive 35:

# Title Authors PMID Year
1
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. 57 6 61
18179891 2008
2
A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from Pakistan. 6 57 61
12529709 2003
3
Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2. 57
26805784 2016
4
DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2. 57
16703383 2006
5
Homozygous mutations in Pakistani consanguineous families with prelingual nonsyndromic hearing loss. 61
33269433 2020
6
Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay. 61
25023176 2014
7
DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family. 61
22951369 2012
8
A novel missense mutation in the ESRRB gene causes DFNB35 hearing loss in a Tunisian family. 61
21802533 2011
9
A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families. 61
22567352 2011
10
A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12. 61
15958501 2006

Variations for Deafness, Autosomal Recessive 35

ClinVar genetic disease variations for Deafness, Autosomal Recessive 35:

6 (show top 50) (show all 77)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ESRRB NM_004452.3(ESRRB):c.787G>A (p.Gly263Ser) SNV Pathogenic 402255 rs375916159 GRCh37: 14:76949102-76949102
GRCh38: 14:76482759-76482759
2 ESRRB NM_004452.3(ESRRB):c.545G>A (p.Arg182His) SNV Pathogenic 402254 rs1060499794 GRCh37: 14:76948389-76948389
GRCh38: 14:76482046-76482046
3 ESRRB ESRRB, 7-BP DUP, NT1018 Duplication Pathogenic 7498 GRCh37:
GRCh38:
4 ESRRB NM_004452.3(ESRRB):c.329C>T (p.Ala110Val) SNV Pathogenic 7499 rs121909110 GRCh37: 14:76906025-76906025
GRCh38: 14:76439682-76439682
5 ESRRB NM_004452.3(ESRRB):c.1024G>T (p.Val342Leu) SNV Pathogenic 7500 rs121909111 GRCh37: 14:76958026-76958026
GRCh38: 14:76491683-76491683
6 ESRRB NM_001379180.1(ESRRB):c.*1451C>G SNV Likely pathogenic 1028247 GRCh37: 14:76966252-76966252
GRCh38: 14:76499909-76499909
7 ESRRB NM_004452.3(ESRRB):c.*71G>A SNV Uncertain significance 314490 rs545818408 GRCh37: 14:76967135-76967135
GRCh38: 14:76500792-76500792
8 ESRRB NM_004452.3(ESRRB):c.-191T>C SNV Uncertain significance 314479 rs541720695 GRCh37: 14:76837870-76837870
GRCh38: 14:76371527-76371527
9 ESRRB NM_004452.3(ESRRB):c.*682C>A SNV Uncertain significance 314499 rs886050809 GRCh37: 14:76967746-76967746
GRCh38: 14:76501403-76501403
10 ESRRB NM_004452.3(ESRRB):c.515-4A>G SNV Uncertain significance 314486 rs753495127 GRCh37: 14:76948355-76948355
GRCh38: 14:76482012-76482012
11 ESRRB NM_004452.3(ESRRB):c.*663G>A SNV Uncertain significance 314498 rs767825224 GRCh37: 14:76967727-76967727
GRCh38: 14:76501384-76501384
12 ESRRB NM_004452.3(ESRRB):c.*604C>T SNV Uncertain significance 314495 rs554904120 GRCh37: 14:76967668-76967668
GRCh38: 14:76501325-76501325
13 ESRRB NM_004452.3(ESRRB):c.-292C>A SNV Uncertain significance 314476 rs143251786 GRCh37: 14:76837769-76837769
GRCh38: 14:76371426-76371426
14 ESRRB NM_004452.3(ESRRB):c.*1068C>T SNV Uncertain significance 314504 rs541309197 GRCh37: 14:76968132-76968132
GRCh38: 14:76501789-76501789
15 ESRRB NM_004452.3(ESRRB):c.-369G>A SNV Uncertain significance 314473 rs111446027 GRCh37: 14:76837692-76837692
GRCh38: 14:76371349-76371349
16 ESRRB NM_004452.3(ESRRB):c.1366T>C (p.Phe456Leu) SNV Uncertain significance 44997 rs188462546 GRCh37: 14:76966275-76966275
GRCh38: 14:76499932-76499932
17 ESRRB NM_001379180.1(ESRRB):c.*1502A>T SNV Uncertain significance 872573 GRCh37: 14:76966303-76966303
GRCh38: 14:76499960-76499960
18 ESRRB NM_004452.3(ESRRB):c.1438C>T (p.Pro480Ser) SNV Uncertain significance 163425 rs201448899 GRCh37: 14:76966347-76966347
GRCh38: 14:76500004-76500004
19 ESRRB NM_004452.3(ESRRB):c.1496G>A (p.Gly499Asp) SNV Uncertain significance 193673 rs371116651 GRCh37: 14:76966405-76966405
GRCh38: 14:76500062-76500062
20 ESRRB NM_004452.3(ESRRB):c.*755G>C SNV Uncertain significance 314502 rs575642098 GRCh37: 14:76967819-76967819
GRCh38: 14:76501476-76501476
21 ESRRB NM_004452.3(ESRRB):c.-113T>C SNV Uncertain significance 314480 rs886050804 GRCh37: 14:76870757-76870757
GRCh38: 14:76404414-76404414
22 ESRRB NM_004452.3(ESRRB):c.*1109G>C SNV Uncertain significance 314505 rs886050812 GRCh37: 14:76968173-76968173
GRCh38: 14:76501830-76501830
23 ESRRB NM_004452.3(ESRRB):c.-324G>A SNV Uncertain significance 314474 rs79948698 GRCh37: 14:76837737-76837737
GRCh38: 14:76371394-76371394
24 ESRRB NM_004452.3(ESRRB):c.-236C>T SNV Uncertain significance 314477 rs181925962 GRCh37: 14:76837825-76837825
GRCh38: 14:76371482-76371482
25 ESRRB NM_004452.3(ESRRB):c.127G>A (p.Gly43Ser) SNV Uncertain significance 314482 rs771730157 GRCh37: 14:76905823-76905823
GRCh38: 14:76439480-76439480
26 ESRRB NM_004452.3(ESRRB):c.417C>T (p.Cys139=) SNV Uncertain significance 314484 rs886050805 GRCh37: 14:76928907-76928907
GRCh38: 14:76462564-76462564
27 ESRRB NM_004452.3(ESRRB):c.*376C>G SNV Uncertain significance 314494 rs886050807 GRCh37: 14:76967440-76967440
GRCh38: 14:76501097-76501097
28 ESRRB NM_004452.3(ESRRB):c.*119G>A SNV Uncertain significance 314491 rs190764707 GRCh37: 14:76967183-76967183
GRCh38: 14:76500840-76500840
29 ESRRB NM_004452.3(ESRRB):c.*690C>T SNV Uncertain significance 314500 rs753110550 GRCh37: 14:76967754-76967754
GRCh38: 14:76501411-76501411
30 ESRRB NM_004452.3(ESRRB):c.*649G>A SNV Uncertain significance 314497 rs886050808 GRCh37: 14:76967713-76967713
GRCh38: 14:76501370-76501370
31 ESRRB NM_004452.3(ESRRB):c.*24G>A SNV Uncertain significance 314489 rs372618689 GRCh37: 14:76967088-76967088
GRCh38: 14:76500745-76500745
32 ESRRB NM_004452.3(ESRRB):c.-300A>G SNV Uncertain significance 314475 rs556338868 GRCh37: 14:76837761-76837761
GRCh38: 14:76371418-76371418
33 ESRRB NM_004452.3(ESRRB):c.-211A>G SNV Uncertain significance 314478 rs569344628 GRCh37: 14:76837850-76837850
GRCh38: 14:76371507-76371507
34 ESRRB NM_004452.3(ESRRB):c.514+15C>T SNV Uncertain significance 314485 rs765906060 GRCh37: 14:76929019-76929019
GRCh38: 14:76462676-76462676
35 ESRRB NM_004452.3(ESRRB):c.1144C>T (p.Arg382Cys) SNV Uncertain significance 225349 rs373131497 GRCh37: 14:76964643-76964643
GRCh38: 14:76498300-76498300
36 ESRRB NM_004452.3(ESRRB):c.733G>C (p.Asp245His) SNV Uncertain significance 638050 rs1595163029 GRCh37: 14:76949048-76949048
GRCh38: 14:76482705-76482705
37 ESRRB NM_004452.3(ESRRB):c.1419C>T (p.Pro473=) SNV Uncertain significance 314488 rs370162922 GRCh37: 14:76966328-76966328
GRCh38: 14:76499985-76499985
38 ESRRB NM_001379180.1(ESRRB):c.583C>T (p.Arg195Cys) SNV Uncertain significance 869463 GRCh37: 14:76948364-76948364
GRCh38: 14:76482021-76482021
39 ESRRB NM_001379180.1(ESRRB):c.50+27968G>A SNV Uncertain significance 884479 GRCh37: 14:76870762-76870762
GRCh38: 14:76404419-76404419
40 ESRRB NM_001379180.1(ESRRB):c.50+28005T>C SNV Uncertain significance 884480 GRCh37: 14:76870799-76870799
GRCh38: 14:76404456-76404456
41 ESRRB NM_001379180.1(ESRRB):c.*1519G>A SNV Uncertain significance 884542 GRCh37: 14:76966320-76966320
GRCh38: 14:76499977-76499977
42 ESRRB NM_001379180.1(ESRRB):c.*1556T>C SNV Uncertain significance 884543 GRCh37: 14:76966357-76966357
GRCh38: 14:76500014-76500014
43 ESRRB NM_001379180.1(ESRRB):c.226G>A (p.Gly76Ser) SNV Uncertain significance 885419 GRCh37: 14:76905859-76905859
GRCh38: 14:76439516-76439516
44 ESRRB NM_001379180.1(ESRRB):c.260G>A (p.Gly87Glu) SNV Uncertain significance 885420 GRCh37: 14:76905893-76905893
GRCh38: 14:76439550-76439550
45 ESRRB NM_001379180.1(ESRRB):c.292G>A (p.Glu98Lys) SNV Uncertain significance 885421 GRCh37: 14:76905925-76905925
GRCh38: 14:76439582-76439582
46 ESRRB NM_001379180.1(ESRRB):c.*2373G>A SNV Uncertain significance 885478 GRCh37: 14:76967174-76967174
GRCh38: 14:76500831-76500831
47 ESRRB NM_001379180.1(ESRRB):c.*2702A>C SNV Uncertain significance 886497 GRCh37: 14:76967503-76967503
GRCh38: 14:76501160-76501160
48 ESRRB NM_001379180.1(ESRRB):c.*2721A>G SNV Uncertain significance 886498 GRCh37: 14:76967522-76967522
GRCh38: 14:76501179-76501179
49 ESRRB NM_001379180.1(ESRRB):c.*2751C>T SNV Uncertain significance 886499 GRCh37: 14:76967552-76967552
GRCh38: 14:76501209-76501209
50 ESRRB NM_001379180.1(ESRRB):c.*2765A>G SNV Uncertain significance 886500 GRCh37: 14:76967566-76967566
GRCh38: 14:76501223-76501223

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 35:

72
# Symbol AA change Variation ID SNP ID
1 ESRRB p.Ala110Val VAR_043503 rs121909110
2 ESRRB p.Leu320Pro VAR_043504
3 ESRRB p.Val342Leu VAR_043505 rs121909111
4 ESRRB p.Leu347Pro VAR_043506

Expression for Deafness, Autosomal Recessive 35

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 35.

Pathways for Deafness, Autosomal Recessive 35

GO Terms for Deafness, Autosomal Recessive 35

Cellular components related to Deafness, Autosomal Recessive 35 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 stereocilium GO:0032420 8.96 GRXCR1 CDH23
2 stereocilium base GO:0120044 8.62 TRIOBP PJVK

Biological processes related to Deafness, Autosomal Recessive 35 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.28 TRIOBP TMPRSS3 TMIE PJVK OTOA LRTOMT
2 photoreceptor cell maintenance GO:0045494 9.16 ESRRB CDH23
3 inner ear receptor cell stereocilium organization GO:0060122 8.96 GRXCR1 CDH23

Sources for Deafness, Autosomal Recessive 35

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....