DFNB24
MCID: DFN252
MIFTS: 38

Deafness, Autosomal Recessive 24 (DFNB24)

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

Aliases & Classifications for Deafness, Autosomal Recessive 24

MalaCards integrated aliases for Deafness, Autosomal Recessive 24:

Name: Deafness, Autosomal Recessive 24 56 29 13 6
Dfnb24 56 12 73
Autosomal Recessive Nonsyndromic Deafness 24 12 15
Deafness, Autosomal Recessive, 24 73 71
Deafness, Autosomal Recessive, Type 24 39
Autosomal Recessive Deafness 24 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset


HPO:

31
deafness, autosomal recessive 24:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110482
OMIM 56 611022
OMIM Phenotypic Series 56 PS220290
MeSH 43 D006319
ICD10 32 H90.3
MedGen 41 C1970239
SNOMED-CT via HPO 68 258211005
UMLS 71 C1970239

Summaries for Deafness, Autosomal Recessive 24

UniProtKB/Swiss-Prot : 73 Deafness, autosomal recessive, 24: 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 24, also known as dfnb24, is related to deafness, autosomal recessive 21 and deafness, autosomal recessive 29. An important gene associated with Deafness, Autosomal Recessive 24 is RDX (Radixin), and among its related pathways/superpathways are RhoA signaling pathway and Cytoskeleton remodeling_RalA regulation pathway. Affiliated tissues include brain, and related phenotypes are profound sensorineural hearing impairment and behavior/neurological

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 RDX gene on chromosome 11q22.

More information from OMIM: 611022 PS220290

Related Diseases for Deafness, Autosomal Recessive 24

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 Recessive 24 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 21 30.2 TECTA PJVK MYO15A
2 deafness, autosomal recessive 29 30.1 TECTA ILDR1
3 deafness, autosomal recessive 42 29.9 TECTA PJVK ILDR1
4 nonsyndromic hearing loss 29.7 TRIOBP TECTA RDX PJVK MYO15A
5 autosomal recessive non-syndromic sensorineural deafness type dfnb 28.0 TRIOBP TPRN TECTA RDX PJVK MYO15A
6 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
7 deafness, autosomal dominant 51 10.2 TPRN TECTA
8 deafness, autosomal dominant 3b 10.2 TPRN TECTA
9 deafness, autosomal recessive 91 10.2 TPRN TECTA
10 deafness, autosomal recessive 8 10.2 PJVK MYO15A
11 deafness, autosomal recessive 83 10.2 PJVK MYO15A
12 bilirubin metabolic disorder 10.2
13 deafness, x-linked 3 10.1 TRIOBP TPRN
14 autosomal recessive nonsyndromic deafness 36 10.1 TRIOBP TPRN
15 deafness, autosomal recessive 79 10.1 TPRN MYO15A
16 nonsyndromic deafness 10.1 MYO15A LRTOMT
17 deafness, autosomal recessive 1b 10.1 TPRN MYO15A
18 deafness, autosomal dominant 17 10.1 TPRN MYO15A
19 deafness, autosomal dominant 22 10.1 TPRN MYO15A
20 x-linked nonsyndromic deafness 10.1 TPRN TECTA
21 deafness, autosomal recessive 2 10.0 TECTA PJVK MYO15A
22 deafness, autosomal recessive 9 10.0 TECTA PJVK MYO15A
23 deafness, autosomal recessive 61 9.9 TRIOBP TPRN TECTA
24 acoustic neuroma 9.9 RDX MIR96 EZR
25 neurilemmoma 9.9 RDX MIR96 EZR
26 deafness, autosomal recessive 53 9.9 TECTA PJVK LRTOMT
27 meningioma, radiation-induced 9.9 RDX EZR
28 non-syndromic genetic deafness 9.9 TRIOBP TECTA MYO15A
29 deafness, autosomal recessive 37 9.9 TRIOBP TPRN MYO15A
30 deafness, autosomal recessive 63 9.8 PJVK MYO15A LRTOMT
31 deafness, autosomal recessive 93 9.8 TRIOBP PJVK LRTOMT
32 deafness, autosomal recessive 7 9.8 PJVK MYO15A LRTOMT
33 deafness, autosomal recessive 6 9.8 TRIOBP PJVK LRTOMT
34 kindler syndrome 9.8 RDX EZR
35 branchiootic syndrome 1 9.8 TECTA PJVK ILDR1
36 autosomal dominant non-syndromic sensorineural deafness type dfna 9.8 TECTA MIR96
37 deafness, autosomal recessive 49 9.8 PJVK MYO15A ILDR1
38 deafness, autosomal recessive 15 9.8 PJVK MYO15A ILDR1
39 usher syndrome, type iid 9.7 VEZT MYO15A
40 deafness, autosomal recessive 67 9.7 PJVK LRTOMT ILDR1
41 deafness, autosomal recessive 22 9.7 TRIOBP TECTA PJVK MYO15A
42 usher syndrome, type if 9.7 VEZT MYO15A
43 deafness, autosomal recessive 28 9.7 TRIOBP TPRN TECTA MYO15A
44 deafness, autosomal recessive 25 9.7 TRIOBP TMPRSS5 PJVK MYO15A
45 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.7 TRIOBP TECTA PJVK MYO15A
46 deafness, autosomal dominant 1 9.6 TRIOBP TPRN TECTA MYO15A
47 usher syndrome, type iic 9.6 VEZT MYO15A
48 usher syndrome, type id 9.6 VEZT TECTA MYO15A
49 deafness, autosomal recessive 35 9.5 TRIOBP PJVK MYO15A LRTOMT
50 rare genetic deafness 9.4 TECTA RDX PJVK MYO15A LRTOMT

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 24:



Diseases related to Deafness, Autosomal Recessive 24

Symptoms & Phenotypes for Deafness, Autosomal Recessive 24

Human phenotypes related to Deafness, Autosomal Recessive 24:

31
# Description HPO Frequency HPO Source Accession
1 profound sensorineural hearing impairment 31 HP:0011476

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
deafness, profound, sensorineural

Clinical features from OMIM:

611022

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 24:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.76 ILDR1 LRTOMT MYO15A PJVK RDX TECTA
2 hearing/vestibular/ear MP:0005377 9.56 ILDR1 LRTOMT MYO15A PJVK RDX TECTA
3 nervous system MP:0003631 9.23 ILDR1 LRTOMT MYO15A PJVK RDX TECTA

Drugs & Therapeutics for Deafness, Autosomal Recessive 24

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 24

Genetic Tests for Deafness, Autosomal Recessive 24

Genetic tests related to Deafness, Autosomal Recessive 24:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 24 29 RDX

Anatomical Context for Deafness, Autosomal Recessive 24

MalaCards organs/tissues related to Deafness, Autosomal Recessive 24:

40
Brain

Publications for Deafness, Autosomal Recessive 24

Articles related to Deafness, Autosomal Recessive 24:

# Title Authors PMID Year
1
A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family. 61 56 6
19215054 2009
2
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus. 61 56 6
17226784 2007
3
Hereditary Hearing Loss and Deafness Overview 6
20301607 1999
4
Diverse pattern of gap junction beta-2 and gap junction beta-4 genes mutations and lack of contribution of DFNB21, DFNB24, DFNB29, and DFNB42 loci in autosomal recessive nonsyndromic hearing loss patients in Hormozgan, Iran. 61
28900455 2017
5
Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene. 61
22567349 2011
6
miRNA mutations are not a common cause of deafness. 61
20186779 2010
7
An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss. 61
17918732 2008

Variations for Deafness, Autosomal Recessive 24

ClinVar genetic disease variations for Deafness, Autosomal Recessive 24:

6 (show top 50) (show all 86) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RDX NM_002906.3(RDX):c.1732G>A (p.Asp578Asn)SNV Pathogenic 13184 rs121918379 11:110102614-110102614 11:110231889-110231889
2 RDX NM_001260496.1(RDX):c.405-1415dupduplication Pathogenic 13185 11:110104143-110104144 11:110233418-110233419
3 RDX NM_001260494.1(RDX):c.60-5775C>TSNV Pathogenic 13186 rs121918380 11:110134689-110134689 11:110263964-110263964
4 RDX NM_002906.3(RDX):c.698+1G>ASNV Pathogenic 13187 11:110128491-110128491 11:110257766-110257766
5 RDX NM_002906.3(RDX):c.551+2T>CSNV Pathogenic 638047 11:110128829-110128829 11:110258104-110258104
6 RDX NM_002906.3(RDX):c.1530C>T (p.Ser510=)SNV Conflicting interpretations of pathogenicity 302342 rs192239366 11:110104019-110104019 11:110233294-110233294
7 RDX NM_002906.3(RDX):c.1059A>G (p.Gln353=)SNV Conflicting interpretations of pathogenicity 44636 rs139953187 11:110118459-110118459 11:110247734-110247734
8 RDX NM_002906.3(RDX):c.1487C>T (p.Ala496Val)SNV Conflicting interpretations of pathogenicity 44638 rs74983220 11:110104062-110104062 11:110233337-110233337
9 RDX NM_002906.3(RDX):c.354G>T (p.Pro118=)SNV Conflicting interpretations of pathogenicity 165054 rs144543614 11:110134798-110134798 11:110264073-110264073
10 RDX NM_002906.3(RDX):c.*2423C>TSNV Uncertain significance 302300 rs886047632 11:110100171-110100171 11:110229446-110229446
11 RDX NM_002906.3(RDX):c.*1961G>ASNV Uncertain significance 302303 rs746061486 11:110100633-110100633 11:110229908-110229908
12 RDX NM_002906.3(RDX):c.1504A>G (p.Asn502Asp)SNV Uncertain significance 302343 rs140180881 11:110104045-110104045 11:110233320-110233320
13 RDX NM_002906.3(RDX):c.1162C>A (p.Arg388=)SNV Uncertain significance 302347 rs754563690 11:110108306-110108306 11:110237581-110237581
14 RDX NM_002906.3(RDX):c.1049G>A (p.Arg350His)SNV Uncertain significance 302348 rs377016439 11:110118469-110118469 11:110247744-110247744
15 RDX NM_002906.3(RDX):c.507A>G (p.Glu169=)SNV Uncertain significance 302351 rs886047648 11:110128875-110128875 11:110258150-110258150
16 RDX NM_002906.3(RDX):c.*1368A>CSNV Uncertain significance 302306 rs540576204 11:110101226-110101226 11:110230501-110230501
17 RDX NM_002906.3(RDX):c.*1284G>ASNV Uncertain significance 302324 rs74676538 11:110101310-110101310 11:110230585-110230585
18 RDX NM_002906.3(RDX):c.*1251A>CSNV Uncertain significance 302327 rs541339386 11:110101343-110101343 11:110230618-110230618
19 RDX NM_002906.3(RDX):c.*1173A>GSNV Uncertain significance 302330 rs753716470 11:110101421-110101421 11:110230696-110230696
20 RDX NM_002906.3(RDX):c.*1058G>ASNV Uncertain significance 302332 rs886047643 11:110101536-110101536 11:110230811-110230811
21 RDX NM_002906.3(RDX):c.*800C>TSNV Uncertain significance 302335 rs886047644 11:110101794-110101794 11:110231069-110231069
22 RDX NM_002906.3(RDX):c.*429G>ASNV Uncertain significance 302339 rs146390813 11:110102165-110102165 11:110231440-110231440
23 RDX NM_002906.3(RDX):c.*156A>GSNV Uncertain significance 302340 rs186249296 11:110102438-110102438 11:110231713-110231713
24 RDX NM_002906.3(RDX):c.*79A>CSNV Uncertain significance 302341 rs55953813 11:110102515-110102515 11:110231790-110231790
25 RDX NM_002906.3(RDX):c.836G>T (p.Arg279Leu)SNV Uncertain significance 302349 rs150863373 11:110124794-110124794 11:110254069-110254069
26 RDX NM_002906.3(RDX):c.-169C>TSNV Uncertain significance 302360 rs371468276 11:110167296-110167296 11:110296571-110296571
27 RDX NM_002906.3(RDX):c.-179C>TSNV Uncertain significance 302361 rs886047653 11:110167306-110167306 11:110296581-110296581
28 RDX NM_002906.3(RDX):c.-290C>ASNV Uncertain significance 302363 rs886047655 11:110167417-110167417 11:110296692-110296692
29 RDX NM_002906.3(RDX):c.-297C>TSNV Uncertain significance 302364 rs886047656 11:110167424-110167424 11:110296699-110296699
30 RDX NM_002906.3(RDX):c.-309T>GSNV Uncertain significance 302366 rs886047658 11:110167436-110167436 11:110296711-110296711
31 RDX NM_002906.3(RDX):c.*2057T>CSNV Uncertain significance 302301 rs886047633 11:110100537-110100537 11:110229812-110229812
32 RDX NM_002906.3(RDX):c.*2006A>GSNV Uncertain significance 302302 rs538806036 11:110100588-110100588 11:110229863-110229863
33 RDX NM_002906.3(RDX):c.*1955A>GSNV Uncertain significance 302304 rs138942667 11:110100639-110100639 11:110229914-110229914
34 RDX NM_002906.3(RDX):c.*1579A>GSNV Uncertain significance 302305 rs772084374 11:110101015-110101015 11:110230290-110230290
35 RDX NM_002906.3(RDX):c.*1290A>GSNV Uncertain significance 302315 rs867786685 11:110101304-110101304 11:110230579-110230579
36 RDX NM_002906.3(RDX):c.*1083G>ASNV Uncertain significance 302331 rs114509945 11:110101511-110101511 11:110230786-110230786
37 RDX NM_002906.3(RDX):c.*885G>ASNV Uncertain significance 302334 rs142279957 11:110101709-110101709 11:110230984-110230984
38 RDX NM_002906.3(RDX):c.*463A>GSNV Uncertain significance 302338 rs886047645 11:110102131-110102131 11:110231406-110231406
39 RDX NM_002906.3(RDX):c.1195G>A (p.Ala399Thr)SNV Uncertain significance 302345 rs886047646 11:110108273-110108273 11:110237548-110237548
40 RDX NM_002906.3(RDX):c.602A>G (p.Tyr201Cys)SNV Uncertain significance 302350 rs146019940 11:110128588-110128588 11:110257863-110257863
41 RDX NM_002906.3(RDX):c.-76C>TSNV Uncertain significance 302357 rs886047652 11:110167203-110167203 11:110296478-110296478
42 RDX NM_002906.3(RDX):c.-149C>TSNV Uncertain significance 302359 rs575111883 11:110167276-110167276 11:110296551-110296551
43 RDX NM_002906.3(RDX):c.-221C>ASNV Uncertain significance 302362 rs886047654 11:110167348-110167348 11:110296623-110296623
44 RDX NM_002906.3(RDX):c.1411C>G (p.Pro471Ala)SNV Uncertain significance 302344 rs138560358 11:110104138-110104138 11:110233413-110233413
45 RDX NM_002906.3(RDX):c.*1313G>CSNV Uncertain significance 302308 rs189484152 11:110101281-110101281 11:110230556-110230556
46 RDX NM_002906.3(RDX):c.1188T>C (p.Ala396=)SNV Uncertain significance 302346 rs886047647 11:110108280-110108280 11:110237555-110237555
47 RDX NM_002906.3(RDX):c.-65+12C>TSNV Uncertain significance 302356 rs886047651 11:110167180-110167180 11:110296455-110296455
48 RDX NM_002906.3(RDX):c.-305G>TSNV Uncertain significance 302365 rs886047657 11:110167432-110167432 11:110296707-110296707
49 RDX NM_002906.4(RDX):c.*2253C>TSNV Uncertain significance 878146 11:110100341-110100341 11:110229616-110229616
50 RDX NM_002906.4(RDX):c.*2112A>GSNV Uncertain significance 878147 11:110100482-110100482 11:110229757-110229757

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 24:

73
# Symbol AA change Variation ID SNP ID
1 RDX p.Asp578Asn VAR_036859 rs121918379

Expression for Deafness, Autosomal Recessive 24

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 24.

Pathways for Deafness, Autosomal Recessive 24

Pathways related to Deafness, Autosomal Recessive 24 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.57 RDX EZR
2 10.34 RDX MYO15A EZR

GO Terms for Deafness, Autosomal Recessive 24

Cellular components related to Deafness, Autosomal Recessive 24 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.55 VEZT TPRN RDX MYO15A EZR
2 actin cytoskeleton GO:0015629 9.43 TRIOBP MYO15A EZR
3 T-tubule GO:0030315 9.32 RDX EZR
4 cell tip GO:0051286 8.96 RDX EZR
5 stereocilium GO:0032420 8.8 TPRN RDX MYO15A

Biological processes related to Deafness, Autosomal Recessive 24 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 regulation of cell size GO:0008361 9.49 RDX EZR
2 barbed-end actin filament capping GO:0051016 9.48 TRIOBP RDX
3 establishment of endothelial barrier GO:0061028 9.46 RDX EZR
4 microvillus assembly GO:0030033 9.43 RDX EZR
5 auditory receptor cell stereocilium organization GO:0060088 9.4 TRIOBP TPRN
6 positive regulation of cellular protein catabolic process GO:1903364 9.37 RDX EZR
7 protein kinase A signaling GO:0010737 9.32 RDX EZR
8 positive regulation of early endosome to late endosome transport GO:2000643 9.26 RDX EZR
9 positive regulation of protein localization to early endosome GO:1902966 9.16 RDX EZR
10 sensory perception of sound GO:0007605 9.1 TRIOBP TPRN TECTA PJVK MYO15A LRTOMT
11 regulation of organelle assembly GO:1902115 8.96 RDX EZR

Molecular functions related to Deafness, Autosomal Recessive 24 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.33 TRIOBP MYO15A EZR
2 protein kinase A binding GO:0051018 8.96 RDX EZR
3 actin binding GO:0003779 8.92 TRIOBP RDX MYO15A EZR

Sources for Deafness, Autosomal Recessive 24

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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