DFNA65
MCID: DFN278
MIFTS: 33

Deafness, Autosomal Dominant 65 (DFNA65)

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

Aliases & Classifications for Deafness, Autosomal Dominant 65

MalaCards integrated aliases for Deafness, Autosomal Dominant 65:

Name: Deafness, Autosomal Dominant 65 56 29 6 71
Dfna65 56 12 73
Autosomal Dominant Nonsyndromic Deafness 65 12 15
Deafness, Autosomal Dominant, Type 65 39
Deafness, Autosomal Dominant, 65 73
Autosomal Dominant Deafness 65 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
two unrelated families have been reported (last curated october 2014)
onset in late twenties


HPO:

31
deafness, autosomal dominant 65:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:



External Ids:

Disease Ontology 12 DOID:0110586
OMIM 56 616044
OMIM Phenotypic Series 56 PS124900
MeSH 43 D006319
ICD10 32 H90.3
SNOMED-CT via HPO 68 263681008
UMLS 71 C3892048

Summaries for Deafness, Autosomal Dominant 65

UniProtKB/Swiss-Prot : 73 Deafness, autosomal dominant, 65: 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. DFNA65 is characterized by post-lingual onset of slowly progressive hearing loss in the third decade. Initially affecting the high frequencies, the hearing loss eventually affects all frequencies and results in severe to profound deafness in the seventh decade. Vestibular function is normal.

MalaCards based summary : Deafness, Autosomal Dominant 65, also known as dfna65, is related to epileptic encephalopathy, early infantile, 1 and myoclonic epilepsy, familial infantile. An important gene associated with Deafness, Autosomal Dominant 65 is TBC1D24 (TBC1 Domain Family Member 24). Affiliated tissues include brain, and related phenotype is progressive hearing impairment.

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that has material basis in mutation in the TBC1D24 gene on chromosome 16p13.

OMIM : 56 Autosomal dominant deafness-65 is characterized by postlingual onset of slowly progressive hearing loss in the third decade. Initially affecting the high frequencies, the hearing loss eventually affects all frequencies and results in severe to profound deafness in the seventh decade. Vestibular function is normal (Zhang et al., 2014). (616044)

Related Diseases for Deafness, Autosomal Dominant 65

Diseases in the Rare Deafness family:

Deafness, Autosomal Dominant 1 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Recessive 2 Deafness, Autosomal Dominant 2a
Deafness, Autosomal Recessive 3 Deafness, Autosomal Dominant 4a
Deafness, Autosomal Recessive 5 Deafness, Autosomal Dominant 6
Deafness, Autosomal Recessive 6 Deafness, Autosomal Recessive 7
Deafness, Autosomal Dominant 5 Deafness, Autosomal Recessive 9
Deafness, Autosomal Recessive 8 Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 9
Deafness, Autosomal Recessive 12 Deafness, Autosomal Dominant 7
Deafness, Autosomal Dominant 12 Deafness, Autosomal Dominant 3a
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 18a Deafness, Autosomal Dominant 15
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 13
Deafness, Autosomal Dominant 17 Deafness, Autosomal Recessive 21
Deafness, Autosomal Recessive 14 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 20
Deafness, Autosomal Dominant 20 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 25
Deafness, Autosomal Recessive 27 Deafness, Autosomal Dominant 18
Deafness, Autosomal Dominant 24 Deafness, Autosomal Dominant 22
Deafness, Autosomal Dominant 30 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 21 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 31 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive Deafness, Autosomal Recessive 33
Deafness, Autosomal Dominant 44 Deafness, Autosomal Dominant 52
Deafness, Autosomal Recessive 37 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 41
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 39
Deafness, Autosomal Dominant 49 Deafness, Autosomal Dominant 43
Deafness, Autosomal Recessive 35 Deafness, Autosomal Dominant 28
Deafness, Autosomal Dominant 31 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 48 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 42 Deafness, Autosomal Recessive 46
Deafness, Autosomal Recessive 53 Deafness, Autosomal Recessive 28
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 47
Deafness, Autosomal Recessive 55 Deafness, Autosomal Dominant 53
Deafness, Autosomal Recessive 62 Deafness, Autosomal Recessive 49
Deafness, Autosomal Recessive 44 Deafness, Autosomal Recessive 66
Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 65
Deafness, Autosomal Recessive 67 Deafness, Autosomal Recessive 68
Deafness, Autosomal Recessive 24 Deafness, Autosomal Recessive 63
Deafness, Autosomal Dominant 27 Deafness, Autosomal Recessive 45
Deafness, Autosomal Dominant 59 Deafness, Autosomal Dominant 3b
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive 1b
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 50
Deafness, Autosomal Recessive 77 Deafness, Autosomal Recessive 25
Deafness, Autosomal Recessive 79 Deafness, Autosomal Recessive 84a
Deafness, Autosomal Recessive 85 Deafness, Autosomal Recessive 91
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 83
Deafness, Autosomal Recessive 74 Deafness, Autosomal Recessive 61
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 29
Deafness, Autosomal Dominant 64 Deafness, Autosomal Dominant 33
Deafness, Autosomal Recessive 96 Deafness, Autosomal Dominant 4b
Deafness, Autosomal Recessive 86 Deafness, Autosomal Recessive 98
Deafness, Autosomal Recessive 93 Deafness, Autosomal Recessive 70
Deafness, Autosomal Recessive 84b Deafness, Autosomal Recessive 18b
Deafness, Autosomal Recessive 88 Deafness, Autosomal Recessive 76
Deafness, Autosomal Dominant 56 Deafness, Autosomal Dominant 54
Deafness, Autosomal Dominant 58 Deafness, Autosomal Recessive 101
Deafness, Autosomal Recessive 102 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 65 Deafness, Autosomal Dominant 67
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 104
Deafness, Autosomal Dominant 69 Deafness, Autosomal Recessive 97
Deafness, Autosomal Dominant 68 Deafness, Autosomal Dominant 70
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 71
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 106
Deafness, Autosomal Recessive 107 Deafness, Autosomal Recessive 108
Deafness, Autosomal Dominant 73 Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109 Deafness, Autosomal Recessive 110
Deafness, Autosomal Dominant 74 Deafness, Autosomal Recessive 111
Deafness, Autosomal Recessive 112 Deafness, Autosomal Recessive 113
Deafness, Autosomal Recessive 100 Deafness, Autosomal Recessive 94
Deafness, Autosomal Recessive 114 Deafness, Autosomal Recessive 115
Deafness, Autosomal Recessive 99 Deafness, Autosomal Dominant 37
Deafness, Autosomal Dominant 75 Deafness, Autosomal Dominant 76
Deafness, Autosomal Dominant 77 Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 106
Autosomal Recessive Nonsyndromic Deafness 107 Autosomal Recessive Nonsyndromic Deafness 108
Autosomal Dominant Nonsyndromic Deafness 71 Autosomal Dominant Nonsyndromic Deafness 72
Autosomal Dominant Nonsyndromic Deafness 73 Autosomal Dominant Nonsyndromic Deafness 34
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 32
Autosomal Recessive Nonsyndromic Deafness 36 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

Diseases related to Deafness, Autosomal Dominant 65 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 1 10.2 TBC1D24 CCNF
2 myoclonic epilepsy, familial infantile 10.2 TBC1D24 CCNF
3 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp 9.8 USP6 TBC1D24 CDC16
4 epileptic encephalopathy, early infantile, 16 9.8 USP6 TBC1D24 CDC16
5 martsolf syndrome 9.8 USP6 TBC1D24 CDC16
6 usher syndrome, type ih 9.7 WHRN PCDH15
7 autosomal recessive nonsyndromic deafness 9.7 WHRN PCDH15
8 autosomal recessive nonsyndromic deafness 36 9.7 WHRN PCDH15
9 usher syndrome, type ij 9.7 WHRN PCDH15
10 usher syndrome, type iiib 9.7 WHRN PCDH15
11 deafness, autosomal recessive 48 9.7 WHRN PCDH15
12 deafness, autosomal recessive 30 9.7 WHRN PCDH15
13 usher syndrome, type iid 9.7 WHRN PCDH15
14 usher syndrome, type ic 9.7 WHRN PCDH15
15 deafness, autosomal recessive 2 9.7 WHRN PCDH15
16 deafness, autosomal recessive 23 9.7 WHRN PCDH15
17 deafness, autosomal dominant 11 9.7 WHRN PCDH15
18 usher syndrome, type ig 9.7 WHRN PCDH15
19 usher syndrome, type if 9.7 WHRN PCDH15
20 usher syndrome, type iia 9.7 WHRN PCDH15
21 usher syndrome, type iic 9.6 WHRN PCDH15
22 usher syndrome, type id 9.6 WHRN PCDH15
23 digenic disease 9.6 WHRN PCDH15
24 deafness, autosomal recessive 12 9.6 WHRN PCDH15
25 auditory system disease 9.5 WHRN PCDH15
26 usher syndrome type 2 9.5 WHRN PCDH15
27 deafness, autosomal recessive 9.5 WHRN TBC1D24 PCDH15
28 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.5 WHRN TBC1D24 PCDH15
29 autosomal dominant nonsyndromic deafness 9.5 WHRN TBC1D24 PCDH15
30 usher syndrome, type iiia 9.5 WHRN PCDH15
31 deafness, autosomal recessive 18a 9.4 TRABD TBC1D24 PCDH15
32 rare genetic deafness 9.4 WHRN PCDH15
33 sensorineural hearing loss 9.3 WHRN TBC1D24 PCDH15
34 eye degenerative disease 9.2 WHRN PCDH15
35 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 9.1 USP6 TBC1D24 PCDH15 CDC16
36 deafness, autosomal recessive 86 8.5 WHRN USP6 TBC1D24 PCDH15 CDC16 CCNF

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 65:



Diseases related to Deafness, Autosomal Dominant 65

Symptoms & Phenotypes for Deafness, Autosomal Dominant 65

Human phenotypes related to Deafness, Autosomal Dominant 65:

31
# Description HPO Frequency HPO Source Accession
1 progressive hearing impairment 31 HP:0001730

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
hearing loss, progressive, (high frequency loss at first progressing to loss of all frequencies)
absent or abnormal otoacoustic emissions

Clinical features from OMIM:

616044

Drugs & Therapeutics for Deafness, Autosomal Dominant 65

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 65

Genetic Tests for Deafness, Autosomal Dominant 65

Genetic tests related to Deafness, Autosomal Dominant 65:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 65 29 TBC1D24

Anatomical Context for Deafness, Autosomal Dominant 65

MalaCards organs/tissues related to Deafness, Autosomal Dominant 65:

40
Brain

Publications for Deafness, Autosomal Dominant 65

Articles related to Deafness, Autosomal Dominant 65:

# Title Authors PMID Year
1
TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. 56 6
24729539 2014
2
A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment. 6 56
24729547 2014
3
TBC1D24-Related Disorders 61 6
25719194 2015
4
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 6
24651602 2014
5
Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees. 61
26371875 2015

Variations for Deafness, Autosomal Dominant 65

ClinVar genetic disease variations for Deafness, Autosomal Dominant 65:

6 (show top 50) (show all 176) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBC1D24 NC_000016.10:g.(?_2496129)_(2500978_?)deldeletion Pathogenic 474299 16:2546130-2550979 16:2496129-2500978
2 TBC1D24 NM_001199107.2(TBC1D24):c.346A>T (p.Lys116Ter)SNV Pathogenic 587507 rs1567411469 16:2546495-2546495 16:2496494-2496494
3 TBC1D24 NM_001199107.2(TBC1D24):c.172del (p.Arg57_Leu58insTer)deletion Pathogenic 541316 rs1555501140 16:2546320-2546320 16:2496319-2496319
4 TBC1D24 NM_001199107.2(TBC1D24):c.1153C>T (p.Gln385Ter)SNV Pathogenic 852959 16:2549368-2549368 16:2499367-2499367
5 TBC1D24 NM_001199107.2(TBC1D24):c.1131C>G (p.Tyr377Ter)SNV Pathogenic 569501 rs1567413218 16:2548386-2548386 16:2498385-2498385
6 TBC1D24 NM_001199107.2(TBC1D24):c.1008del (p.His336fs)deletion Pathogenic 91398 rs398122967 16:2548263-2548263 16:2498262-2498262
7 TBC1D24 NM_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu)SNV Pathogenic 133246 rs483352866 16:2546682-2546682 16:2496681-2496681
8 TBC1D24 NM_001199107.2(TBC1D24):c.121C>T (p.Gln41Ter)SNV Pathogenic 391687 rs1057524191 16:2546270-2546270 16:2496269-2496269
9 TBC1D24 NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys)SNV Pathogenic/Likely pathogenic 91395 rs398122965 16:2546873-2546873 16:2496872-2496872
10 TBC1D24 NM_001199107.2(TBC1D24):c.983+2T>CSNV Likely pathogenic 658011 16:2547730-2547730 16:2497729-2497729
11 TBC1D24 NM_001199107.2(TBC1D24):c.919A>C (p.Asn307His)SNV Likely pathogenic 425556 rs1555501320 16:2547068-2547068 16:2497067-2497067
12 TBC1D24 NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val)SNV Likely pathogenic 419296 rs564477999 16:2550465-2550465 16:2500464-2500464
13 TBC1D24 NM_001199107.2(TBC1D24):c.321T>A (p.Asn107Lys)SNV Likely pathogenic 391688 rs1057524192 16:2546470-2546470 16:2496469-2496469
14 TBC1D24 NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met)SNV Conflicting interpretations of pathogenicity 284895 rs61731477 16:2549411-2549411 16:2499410-2499410
15 TBC1D24 NM_001199107.2(TBC1D24):c.1525+6C>TSNV Conflicting interpretations of pathogenicity 287520 rs758013935 16:2550497-2550497 16:2500496-2500496
16 TBC1D24 NM_001199107.2(TBC1D24):c.1038C>T (p.Ser346=)SNV Conflicting interpretations of pathogenicity 318616 rs377697825 16:2548293-2548293 16:2498292-2498292
17 TBC1D24 NM_001199107.2(TBC1D24):c.1425C>T (p.Pro475=)SNV Conflicting interpretations of pathogenicity 318619 rs370869383 16:2550391-2550391 16:2500390-2500390
18 TBC1D24 NM_001199107.2(TBC1D24):c.492C>G (p.Pro164=)SNV Conflicting interpretations of pathogenicity 381257 rs369172908 16:2546641-2546641 16:2496640-2496640
19 TBC1D24 NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met)SNV Conflicting interpretations of pathogenicity 378709 rs201649140 16:2550921-2550921 16:2500920-2500920
20 TBC1D24 NM_001199107.2(TBC1D24):c.1620C>T (p.Ser540=)SNV Conflicting interpretations of pathogenicity 378708 rs781723084 16:2550899-2550899 16:2500898-2500898
21 TBC1D24 NM_001199107.2(TBC1D24):c.1641C>A (p.Ala547=)SNV Conflicting interpretations of pathogenicity 379484 rs553215090 16:2550920-2550920 16:2500919-2500919
22 TBC1D24 NM_020705.3(TBC1D24):c.229_240ATCGTGGGCAAG[1] (p.77_80IVGK[1])short repeat Conflicting interpretations of pathogenicity 418692 rs761918906 16:2546378-2546389 16:2496377-2496388
23 TBC1D24 NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp)SNV Conflicting interpretations of pathogenicity 429630 rs748302886 16:2546828-2546828 16:2496827-2496827
24 TBC1D24 NM_001199107.2(TBC1D24):c.809G>A (p.Arg270His)SNV Conflicting interpretations of pathogenicity 436947 rs545689324 16:2546958-2546958 16:2496957-2496957
25 TBC1D24 NM_001199107.2(TBC1D24):c.759G>A (p.Lys253=)SNV Conflicting interpretations of pathogenicity 659552 16:2546908-2546908 16:2496907-2496907
26 CCNF , TBC1D24 NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His)SNV Conflicting interpretations of pathogenicity 130540 rs200324356 16:2546790-2546790 16:2496789-2496789
27 TBC1D24 NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu)SNV Conflicting interpretations of pathogenicity 139396 rs72768728 16:2547034-2547034 16:2497033-2497033
28 TBC1D24 NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser)SNV Conflicting interpretations of pathogenicity 183154 rs747821285 16:2546477-2546477 16:2496476-2496476
29 TBC1D24 NM_001199107.2(TBC1D24):c.179G>A (p.Arg60Gln)SNV Conflicting interpretations of pathogenicity 207518 rs200226466 16:2546328-2546328 16:2496327-2496327
30 TBC1D24 NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys)SNV Conflicting interpretations of pathogenicity 207499 rs376712059 16:2546606-2546606 16:2496605-2496605
31 TBC1D24 NM_001199107.2(TBC1D24):c.493G>A (p.Gly165Ser)SNV Conflicting interpretations of pathogenicity 207484 rs200926225 16:2546642-2546642 16:2496641-2496641
32 TBC1D24 NM_001199107.2(TBC1D24):c.680G>T (p.Arg227Leu)SNV Conflicting interpretations of pathogenicity 207503 rs756181906 16:2546829-2546829 16:2496828-2496828
33 TBC1D24 NM_001199107.2(TBC1D24):c.702G>A (p.Val234=)SNV Conflicting interpretations of pathogenicity 207487 rs188739853 16:2546851-2546851 16:2496850-2496850
34 TBC1D24 NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg)SNV Conflicting interpretations of pathogenicity 207505 rs747538224 16:2546994-2546994 16:2496993-2496993
35 TBC1D24 NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys)SNV Conflicting interpretations of pathogenicity 195364 rs202162520 16:2546318-2546318 16:2496317-2496317
36 TBC1D24 NM_001199107.2(TBC1D24):c.1125C>T (p.His375=)SNV Conflicting interpretations of pathogenicity 197189 rs749163517 16:2548380-2548380 16:2498379-2498379
37 TBC1D24 NM_001199107.2(TBC1D24):c.951C>T (p.Thr317=)SNV Conflicting interpretations of pathogenicity 207488 rs766745103 16:2547100-2547100 16:2497099-2497099
38 TBC1D24 NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys)SNV Conflicting interpretations of pathogenicity 208413 rs141399869 16:2550293-2550293 16:2500292-2500292
39 TBC1D24 NM_001199107.2(TBC1D24):c.1026G>A (p.Ser342=)SNV Conflicting interpretations of pathogenicity 212371 rs370244846 16:2548281-2548281 16:2498280-2498280
40 TBC1D24 NM_001199107.2(TBC1D24):c.90T>C (p.Thr30=)SNV Conflicting interpretations of pathogenicity 227985 rs575173753 16:2546239-2546239 16:2496238-2496238
41 TBC1D24 NM_001199107.2(TBC1D24):c.1473C>G (p.Pro491=)SNV Conflicting interpretations of pathogenicity 207490 rs370427146 16:2550439-2550439 16:2500438-2500438
42 TBC1D24 NM_001199107.2(TBC1D24):c.1467C>T (p.Asn489=)SNV Conflicting interpretations of pathogenicity 227978 rs779963634 16:2550433-2550433 16:2500432-2500432
43 TBC1D24 NM_001199107.2(TBC1D24):c.1570C>T (p.Arg524Trp)SNV Conflicting interpretations of pathogenicity 227980 rs78644690 16:2550849-2550849 16:2500848-2500848
44 TBC1D24 NM_001199107.2(TBC1D24):c.1490T>C (p.Met497Thr)SNV Uncertain significance 207514 rs367710709 16:2550456-2550456 16:2500455-2500455
45 TBC1D24 NM_001199107.2(TBC1D24):c.1028A>C (p.Glu343Ala)SNV Uncertain significance 207511 rs188124777 16:2548283-2548283 16:2498282-2498282
46 TBC1D24 NM_001199107.2(TBC1D24):c.178C>T (p.Arg60Trp)SNV Uncertain significance 207517 rs373914077 16:2546327-2546327 16:2496326-2496326
47 TBC1D24 NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr)SNV Uncertain significance 207506 rs375307187 16:2547020-2547020 16:2497019-2497019
48 TBC1D24 NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His)SNV Uncertain significance 207519 rs199700840 16:2547027-2547027 16:2497026-2497026
49 TBC1D24 NM_001199107.2(TBC1D24):c.244G>T (p.Val82Leu)SNV Uncertain significance 207494 16:2546393-2546393 16:2496392-2496392
50 TBC1D24 NM_001199107.2(TBC1D24):c.340G>A (p.Val114Met)SNV Uncertain significance 207495 rs368575199 16:2546489-2546489 16:2496488-2496488

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 65:

73
# Symbol AA change Variation ID SNP ID
1 TBC1D24 p.Ser178Leu VAR_072107 rs483352866

Expression for Deafness, Autosomal Dominant 65

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 65.

Pathways for Deafness, Autosomal Dominant 65

GO Terms for Deafness, Autosomal Dominant 65

Cellular components related to Deafness, Autosomal Dominant 65 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 stereocilium GO:0032420 8.62 WHRN PCDH15

Biological processes related to Deafness, Autosomal Dominant 65 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inner ear receptor cell stereocilium organization GO:0060122 9.26 WHRN PCDH15
2 auditory receptor cell stereocilium organization GO:0060088 9.16 WHRN PCDH15
3 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 8.96 WHRN PCDH15
4 sensory perception of light stimulus GO:0050953 8.62 WHRN PCDH15

Sources for Deafness, Autosomal Dominant 65

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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