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DFNB24
MCID: DFN252
MIFTS: 37

Deafness, Autosomal Recessive 24 (DFNB24)

Categories: Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Deafness, Autosomal Recessive 24

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MalaCards integrated aliases for Deafness, Autosomal Recessive 24:

Name: Deafness, Autosomal Recessive 24 57 29 13 6
Dfnb24 57 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®:

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

Miscellaneous:
prelingual onset


HPO:

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


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Ear diseases Neuronal diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:0110482
OMIM® 57 611022
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C1970239
SNOMED-CT via HPO 68 258211005
UMLS 71 C1970239
Sources

Summaries for Deafness, Autosomal Recessive 24

About this section
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 29 and deafness, autosomal recessive 42. 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. 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
Sources

Related Diseases for Deafness, Autosomal Recessive 24

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

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 29 29.8 TECTA ILDR1
2 deafness, autosomal recessive 42 29.7 TECTA PJVK ILDR1
3 nonsyndromic hearing loss 29.4 TRIOBP TECTA RDX PJVK MYO15A
4 deafness, autosomal recessive 21 29.4 TECTA PJVK MYO15A LRTOMT
5 autosomal recessive non-syndromic sensorineural deafness type dfnb 28.2 TRIOBP TPRN TECTA RDX PJVK MYO15A
6 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
7 immunodeficiency 50 10.1 RDX EZR
8 deafness, autosomal recessive 8 10.1 PJVK MYO15A
9 deafness, autosomal recessive 83 10.1 PJVK MYO15A
10 deafness, x-linked 3 10.1 TRIOBP TPRN
11 deafness, autosomal recessive 79 10.1 TPRN MYO15A
12 nystagmus 6, congenital, x-linked 10.1 RDX EZR
13 autosomal recessive nonsyndromic deafness 36 10.1 TRIOBP TPRN
14 deafness, autosomal dominant 17 10.1 TPRN MYO15A
15 deafness, autosomal dominant 6 10.0 TECTA MYO15A
16 kindler syndrome 10.0 RDX EZR
17 acoustic neuroma 10.0 RDX MIR96 EZR
18 neurilemmoma 10.0 RDX MIR96 EZR
19 deafness, autosomal recessive 2 10.0 TECTA PJVK MYO15A
20 deafness, autosomal recessive 53 9.9 TECTA PJVK LRTOMT
21 deafness, autosomal recessive 1b 9.9 TPRN TECTA MYO15A
22 deafness, autosomal recessive 61 9.9 TRIOBP TPRN TECTA
23 deafness, autosomal recessive 1a 9.9 TRIOBP PJVK
24 bilirubin metabolic disorder 9.9
25 deafness, autosomal recessive 63 9.9 PJVK MYO15A LRTOMT
26 deafness, autosomal recessive 7 9.9 PJVK MYO15A LRTOMT
27 deafness, autosomal recessive 37 9.9 TRIOBP TPRN MYO15A
28 deafness, autosomal recessive 93 9.9 TRIOBP PJVK LRTOMT
29 deafness, autosomal recessive 6 9.9 TRIOBP PJVK LRTOMT
30 deafness, autosomal dominant 22 9.8 TRIOBP TPRN MYO15A
31 deafness, autosomal recessive 35 9.8 TRIOBP PJVK LRTOMT
32 neurofibromatosis, type ii 9.8 RDX EZR
33 deafness, autosomal recessive 49 9.8 PJVK MYO15A ILDR1
34 deafness, autosomal recessive 15 9.8 PJVK MYO15A ILDR1
35 branchiootic syndrome 1 9.8 PJVK ILDR1
36 usher syndrome, type iid 9.8 VEZT MYO15A
37 deafness, autosomal recessive 67 9.8 PJVK LRTOMT ILDR1
38 autosomal recessive nonsyndromic deafness 3 9.7 TPRN PJVK MYO15A LRTOMT
39 usher syndrome, type iic 9.7 VEZT MYO15A
40 deafness, autosomal recessive 22 9.7 TRIOBP TECTA PJVK MYO15A
41 deafness, autosomal recessive 28 9.7 TRIOBP TPRN TECTA MYO15A
42 deafness, autosomal recessive 25 9.7 TRIOBP TMPRSS5 PJVK MYO15A
43 rare genetic deafness 9.7 RDX PJVK MYO15A LRTOMT
44 deafness, autosomal dominant 1, with or without thrombocytopenia 9.7 TRIOBP TPRN TECTA MYO15A
45 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.7 TRIOBP TECTA PJVK MYO15A
46 usher syndrome type 2 9.6 VEZT TECTA MYO15A
47 usher syndrome, type id 9.5 VEZT TPRN TECTA MYO15A
48 deafness, autosomal recessive 9.5 TPRN RDX PJVK LRTOMT ILDR1
49 deafness, autosomal recessive 9 9.4 TRIOBP TECTA PJVK MYO15A LRTOMT
50 deafness, autosomal recessive 12 9.4 VEZT TRIOBP TECTA MYO15A

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



Diseases related to Deafness, Autosomal Recessive 24
Sources

Symptoms & Phenotypes for Deafness, Autosomal Recessive 24

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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®:

57 (Updated 05-Mar-2021)
Head And Neck Ears:
deafness, profound, sensorineural

Clinical features from OMIM®:

611022 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 24:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.81 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 9.28 ILDR1 LRTOMT MYO15A PJVK RDX TECTA
Sources

Drugs & Therapeutics for Deafness, Autosomal Recessive 24

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

Sources

Genetic Tests for Deafness, Autosomal Recessive 24

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Genetic tests related to Deafness, Autosomal Recessive 24:

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

Anatomical Context for Deafness, Autosomal Recessive 24

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Sources

Publications for Deafness, Autosomal Recessive 24

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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. 6 57 61
19215054 2009
2
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus. 61 6 57
17226784 2007
3
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
4
Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene. 61
22567349 2011
5
miRNA mutations are not a common cause of deafness. 61
20186779 2010
6
An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss. 61
17918732 2008
Sources

Variations for Deafness, Autosomal Recessive 24

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ClinVar genetic disease variations for Deafness, Autosomal Recessive 24:

6 (show top 50) (show all 87)
# 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.405-1415dup Duplication Pathogenic 13185 rs1372141763 11:110104143-110104144 11:110233418-110233419
3 RDX NM_001260494.1(RDX):c.60-5775C>T SNV Pathogenic 13186 rs121918380 11:110134689-110134689 11:110263964-110263964
4 RDX NM_002906.3(RDX):c.698+1G>A SNV Pathogenic 13187 rs1191259480 11:110128491-110128491 11:110257766-110257766
5 RDX NM_002906.3(RDX):c.551+2T>C SNV Pathogenic 638047 rs1591158999 11:110128829-110128829 11:110258104-110258104
6 RDX NM_002906.4(RDX):c.1108C>T (p.Arg370Ter) SNV Pathogenic 982441 11:110108360-110108360 11:110237635-110237635
7 RDX NM_002906.3(RDX):c.602A>G (p.Tyr201Cys) SNV Uncertain significance 302350 rs146019940 11:110128588-110128588 11:110257863-110257863
8 RDX NM_002906.3(RDX):c.1049G>A (p.Arg350His) SNV Uncertain significance 302348 rs377016439 11:110118469-110118469 11:110247744-110247744
9 RDX NM_002906.3(RDX):c.*1955A>G SNV Uncertain significance 302304 rs138942667 11:110100639-110100639 11:110229914-110229914
10 RDX NM_002906.3(RDX):c.-297C>T SNV Uncertain significance 302364 rs886047656 11:110167424-110167424 11:110296699-110296699
11 RDX NM_002906.3(RDX):c.507A>G (p.Glu169=) SNV Uncertain significance 302351 rs886047648 11:110128875-110128875 11:110258150-110258150
12 RDX NM_002906.3(RDX):c.1195G>A (p.Ala399Thr) SNV Uncertain significance 302345 rs886047646 11:110108273-110108273 11:110237548-110237548
13 RDX NM_002906.3(RDX):c.*463A>G SNV Uncertain significance 302338 rs886047645 11:110102131-110102131 11:110231406-110231406
14 RDX NM_002906.3(RDX):c.*1058G>A SNV Uncertain significance 302332 rs886047643 11:110101536-110101536 11:110230811-110230811
15 RDX NM_002906.3(RDX):c.*800C>T SNV Uncertain significance 302335 rs886047644 11:110101794-110101794 11:110231069-110231069
16 RDX NM_002906.3(RDX):c.-65+12C>T SNV Uncertain significance 302356 rs886047651 11:110167180-110167180 11:110296455-110296455
17 RDX NM_002906.3(RDX):c.910C>T (p.Gln304Ter) SNV Uncertain significance 631648 rs893826250 11:110124720-110124720 11:110253995-110253995
18 RDX NM_002906.3(RDX):c.573C>A (p.Tyr191Ter) SNV Uncertain significance 631649 rs139960434 11:110128617-110128617 11:110257892-110257892
19 RDX NM_002906.4(RDX):c.*1143G>A SNV Uncertain significance 877175 11:110101451-110101451 11:110230726-110230726
20 RDX NM_002906.4(RDX):c.*855T>C SNV Uncertain significance 877176 11:110101739-110101739 11:110231014-110231014
21 RDX NM_002906.4(RDX):c.*762C>A SNV Uncertain significance 877177 11:110101832-110101832 11:110231107-110231107
22 RDX NM_002906.4(RDX):c.*740C>T SNV Uncertain significance 877178 11:110101854-110101854 11:110231129-110231129
23 RDX NM_002906.4(RDX):c.301C>T (p.Leu101Phe) SNV Uncertain significance 877231 11:110134851-110134851 11:110264126-110264126
24 RDX NM_002906.4(RDX):c.6G>A (p.Pro2=) SNV Uncertain significance 877232 11:110150412-110150412 11:110279687-110279687
25 RDX NM_002906.4(RDX):c.-91G>A SNV Uncertain significance 877233 11:110167218-110167218 11:110296493-110296493
26 RDX NM_002906.4(RDX):c.*2253C>T SNV Uncertain significance 878146 11:110100341-110100341 11:110229616-110229616
27 RDX NM_002906.4(RDX):c.*2112A>G SNV Uncertain significance 878147 11:110100482-110100482 11:110229757-110229757
28 RDX NM_002906.4(RDX):c.*2085A>C SNV Uncertain significance 878148 11:110100509-110100509 11:110229784-110229784
29 RDX NM_002906.4(RDX):c.*2070A>G SNV Uncertain significance 878149 11:110100524-110100524 11:110229799-110229799
30 RDX NM_002906.4(RDX):c.*474A>G SNV Uncertain significance 878213 11:110102120-110102120 11:110231395-110231395
31 RDX NM_002906.4(RDX):c.*414A>T SNV Uncertain significance 878214 11:110102180-110102180 11:110231455-110231455
32 RDX NM_002906.4(RDX):c.*302C>T SNV Uncertain significance 878215 11:110102292-110102292 11:110231567-110231567
33 RDX NM_002906.4(RDX):c.1577A>G (p.Lys526Arg) SNV Uncertain significance 878216 11:110103972-110103972 11:110233247-110233247
34 RDX NM_002906.4(RDX):c.-133C>T SNV Uncertain significance 878272 11:110167260-110167260 11:110296535-110296535
35 RDX NM_002906.4(RDX):c.*1898A>G SNV Uncertain significance 879607 11:110100696-110100696 11:110229971-110229971
36 RDX NM_002906.4(RDX):c.*1632A>G SNV Uncertain significance 879608 11:110100962-110100962 11:110230237-110230237
37 RDX NM_002906.4(RDX):c.*1536T>C SNV Uncertain significance 879609 11:110101058-110101058 11:110230333-110230333
38 RDX NM_002906.4(RDX):c.*1383G>A SNV Uncertain significance 879610 11:110101211-110101211 11:110230486-110230486
39 RDX NM_002906.4(RDX):c.*1358C>T SNV Uncertain significance 879612 11:110101236-110101236 11:110230511-110230511
40 RDX NM_002906.4(RDX):c.1547C>T (p.Thr516Ile) SNV Uncertain significance 879661 11:110104002-110104002 11:110233277-110233277
41 RDX NM_002906.4(RDX):c.1495G>C (p.Glu499Gln) SNV Uncertain significance 879662 11:110104054-110104054 11:110233329-110233329
42 RDX NM_002906.4(RDX):c.1251+14T>G SNV Uncertain significance 879663 11:110108203-110108203 11:110237478-110237478
43 RDX NM_002906.4(RDX):c.*1264G>C SNV Uncertain significance 879967 11:110101330-110101330 11:110230605-110230605
44 RDX NM_002906.4(RDX):c.*1215G>A SNV Uncertain significance 879968 11:110101379-110101379 11:110230654-110230654
45 RDX NM_002906.4(RDX):c.*1201A>G SNV Uncertain significance 879969 11:110101393-110101393 11:110230668-110230668
46 RDX NM_002906.4(RDX):c.698+14T>C SNV Uncertain significance 880029 11:110128478-110128478 11:110257753-110257753
47 RDX NM_001260493.1(RDX):c.-240C>G SNV Uncertain significance 878273 11:110167367-110167367 11:110296642-110296642
48 RDX NM_001260493.1(RDX):c.-270G>C SNV Uncertain significance 878274 11:110167397-110167397 11:110296672-110296672
49 RDX NM_001260493.1(RDX):c.-272A>T SNV Uncertain significance 878870 11:110167399-110167399 11:110296674-110296674
50 RDX NM_001260493.1(RDX):c.-285A>G SNV Uncertain significance 878871 11:110167412-110167412 11:110296687-110296687

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

Sources

Expression for Deafness, Autosomal Recessive 24

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

Pathways for Deafness, Autosomal Recessive 24

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

# Super pathways Score Top Affiliating Genes
1
RhoA signaling pathway 1
10.57 RDX EZR
2
Cytoskeleton remodeling_RalA regulation pathway 23
10.34 RDX MYO15A EZR
Sources

GO Terms for Deafness, Autosomal Recessive 24

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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 9.63 VEZT TPRN RDX PJVK MYO15A EZR
2 actin cytoskeleton GO:0015629 9.5 TRIOBP MYO15A EZR
3 cortical actin cytoskeleton GO:0030864 9.4 RDX PJVK
4 T-tubule GO:0030315 9.37 RDX EZR
5 stereocilium GO:0032420 9.26 TPRN MYO15A
6 cell tip GO:0051286 8.96 RDX EZR
7 stereocilium base GO:0120044 8.8 TRIOBP TPRN PJVK

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 positive regulation of cellular protein catabolic process GO:1903364 9.43 RDX EZR
5 auditory receptor cell stereocilium organization GO:0060088 9.4 TRIOBP TPRN
6 protein kinase A signaling GO:0010737 9.37 RDX EZR
7 positive regulation of protein localization to early endosome GO:1902966 9.32 RDX EZR
8 positive regulation of early endosome to late endosome transport GO:2000643 9.26 RDX EZR
9 regulation of organelle assembly GO:1902115 9.16 RDX EZR
10 sensory perception of sound GO:0007605 9.1 TRIOBP TPRN TECTA PJVK MYO15A LRTOMT
11 stereocilium maintenance GO:0120045 8.96 TPRN PJVK

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

Sources for Deafness, Autosomal Recessive 24

About this section
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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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