DFNB49
MCID: DFN092
MIFTS: 39

Deafness, Autosomal Recessive 49 (DFNB49)

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

Aliases & Classifications for Deafness, Autosomal Recessive 49

MalaCards integrated aliases for Deafness, Autosomal Recessive 49:

Name: Deafness, Autosomal Recessive 49 56 29 13 6 71
Dfnb49 56 12 73
Autosomal Recessive Nonsyndromic Deafness 49 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 49 73
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 49 73
Deafness, Autosomal Recessive, Type 49 39
Deafness, Autosomal Recessive, 49 73
Autosomal Recessive Deafness 49 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
deafness, autosomal recessive 49:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110506
OMIM 56 610153
OMIM Phenotypic Series 56 PS220290
MeSH 43 D006319
ICD10 32 H90.3
MedGen 41 C1857811
SNOMED-CT via HPO 68 258211005
UMLS 71 C1857811

Summaries for Deafness, Autosomal Recessive 49

UniProtKB/Swiss-Prot : 73 Deafness, autosomal recessive, 49: 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 49, also known as dfnb49, is related to nonsyndromic deafness and branchiootic syndrome 1. An important gene associated with Deafness, Autosomal Recessive 49 is MARVELD2 (MARVEL Domain Containing 2), and among its related pathways/superpathways are Sertoli-Sertoli Cell Junction Dynamics and Pathogenic Escherichia coli infection. Affiliated tissues include brain, and related phenotypes are prelingual sensorineural hearing impairment and behavior/neurological

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, stable hearing loss and has material basis in mutation in the MARVELD2 gene on chromosome 5q13.

More information from OMIM: 610153 PS220290

Related Diseases for Deafness, Autosomal Recessive 49

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

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic deafness 29.9 MYO15A GJB2
2 branchiootic syndrome 1 29.8 PJVK MARVELD2 ILDR1 GJB2
3 sensorineural hearing loss 28.4 POU3F4 MYO15A MARVELD2 ILDR1 GJB2 CLDN14
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
5 deafness, autosomal dominant 51 10.3 MARVELD2 CLDN14
6 hermansky-pudlak syndrome 7 10.3 ILDR2 ILDR1
7 deafness, autosomal recessive 100 10.2
8 deafness, autosomal recessive 67 10.1 PJVK ILDR1
9 deafness, x-linked 5, with peripheral neuropathy 10.0 POU3F4 PJVK
10 pseudo-torch syndrome 1 10.0 OCLN MARVELD3 MARVELD2
11 hereditary hearing loss and deafness 10.0 POU3F4 CLDN14
12 deafness, autosomal recessive 39 10.0 GJB2 CLDN14
13 deafness, autosomal recessive 93 9.9 PJVK GJB2
14 deafness, autosomal recessive 77 9.9 PJVK GJB2
15 auditory neuropathy, autosomal dominant, 1 9.9 PJVK GJB2
16 x-linked nonsyndromic deafness 9.7 POU3F4 GJB2
17 deafness, autosomal recessive 83 9.7 PJVK MYO15A
18 deafness, autosomal recessive 25 9.7 PJVK MYO15A
19 deafness, autosomal recessive 35 9.7 PJVK MYO15A
20 deafness, autosomal recessive 3 9.7 MYO15A GJB2
21 deafness, autosomal recessive 63 9.7 PJVK MYO15A
22 deafness, autosomal recessive 1a 9.7 PJVK GJB2 CLDN14
23 deafness, autosomal recessive 22 9.7 PJVK MYO15A
24 waardenburg syndrome, type 1 9.7 POU3F4 GJB2
25 non-syndromic genetic deafness 9.7 MYO15A GJB2
26 deafness, autosomal recessive 79 9.6 MYO15A GJB2
27 deafness, x-linked 2 9.6 POU3F4 GJB2
28 deafness, autosomal recessive 16 9.6 MYO15A GJB2
29 deafness, autosomal dominant 36 9.6 MYO15A GJB2
30 deafness, autosomal recessive 15 9.6 PJVK MYO15A ILDR1
31 deafness, autosomal recessive 24 9.6 PJVK MYO15A ILDR1
32 deafness, autosomal dominant 1 9.6 MYO15A GJB2
33 deafness, autosomal recessive 9.5 PJVK MARVELD2 ILDR1 GJB2
34 deafness, autosomal dominant 11 9.5 MYO15A GJB2
35 usher syndrome, type id 9.4 MYO15A GJB2
36 deafness, autosomal recessive 1b 9.4 POU3F4 MYO15A GJB2
37 vestibular disease 9.3 POU3F4 MYO15A GJB2
38 deafness, autosomal recessive 2 9.3 PJVK MYO15A GJB2
39 autosomal recessive nonsyndromic deafness 3 9.3 PJVK MYO15A GJB2
40 deafness, autosomal recessive 21 9.3 PJVK MYO15A GJB2
41 deafness, autosomal recessive 8 9.3 PJVK MYO15A GJB2
42 deafness, autosomal recessive 7 9.3 PJVK MYO15A GJB2
43 deafness, autosomal recessive 9 9.3 PJVK MYO15A GJB2
44 nonsyndromic hearing loss 9.3 PJVK MYO15A GJB2
45 otosclerosis 9.3 PJVK MYO15A GJB2
46 deafness, autosomal recessive 29 9.2 MARVELD2 ILDR2 ILDR1 GJB2 CLDN9 CLDN14
47 deafness, autosomal recessive 12 9.2 MYO15A GJB2
48 usher syndrome, type i 9.1 PJVK MYO15A GJB2
49 autosomal recessive nonsyndromic deafness 9.1 PJVK MYO15A ILDR1 GJB2
50 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.0 POU3F4 PJVK MYO15A GJB2

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 49:



Diseases related to Deafness, Autosomal Recessive 49

Symptoms & Phenotypes for Deafness, Autosomal Recessive 49

Human phenotypes related to Deafness, Autosomal Recessive 49:

31
# Description HPO Frequency HPO Source Accession
1 prelingual sensorineural hearing impairment 31 HP:0000399

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
deafness, prelingual, profound (affects all frequencies)

Clinical features from OMIM:

610153

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 49:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.76 CLDN14 CLDN9 ILDR1 MARVELD2 MYO15A OCLN
2 hearing/vestibular/ear MP:0005377 9.56 CLDN14 CLDN9 GJB2 ILDR1 MARVELD2 MYO15A
3 nervous system MP:0003631 9.28 CLDN14 CLDN9 GJB2 ILDR1 MARVELD2 MYO15A

Drugs & Therapeutics for Deafness, Autosomal Recessive 49

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 49

Genetic Tests for Deafness, Autosomal Recessive 49

Genetic tests related to Deafness, Autosomal Recessive 49:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 49 29 MARVELD2

Anatomical Context for Deafness, Autosomal Recessive 49

MalaCards organs/tissues related to Deafness, Autosomal Recessive 49:

40
Brain

Publications for Deafness, Autosomal Recessive 49

Articles related to Deafness, Autosomal Recessive 49:

(show all 15)
# Title Authors PMID Year
1
Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families. 56 6 61
18084694 2008
2
Tricellulin is a tight-junction protein necessary for hearing. 61 6 56
17186462 2006
3
A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1. 56 61
15538632 2005
4
Hereditary Hearing Loss and Deafness Overview 6
20301607 1999
5
New SNP variants of MARVELD2 (DFNB49) associated with non-syndromic hearing loss in Chinese population. 61
30406641 2019
6
Deletion of Tricellulin Causes Progressive Hearing Loss Associated with Degeneration of Cochlear Hair Cells. 61
26677943 2015
7
Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss. 61
25666562 2015
8
ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells. 61
25217574 2015
9
Deficiency of angulin-2/ILDR1, a tricellular tight junction-associated membrane protein, causes deafness with cochlear hair cell degeneration in mice. 61
25822906 2015
10
MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin. 61
25885414 2015
11
Deafness in occludin-deficient mice with dislocation of tricellulin and progressive apoptosis of the hair cells. 61
25063198 2014
12
[Molecular organization of tricellular tight junctions]. 61
24790043 2014
13
Tricellulin deficiency affects tight junction architecture and cochlear hair cells. 61
23979167 2013
14
Analysis of the 'angulin' proteins LSR, ILDR1 and ILDR2--tricellulin recruitment, epithelial barrier function and implication in deafness pathogenesis. 61
23239027 2013
15
DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population. 61
22097895 2012

Variations for Deafness, Autosomal Recessive 49

ClinVar genetic disease variations for Deafness, Autosomal Recessive 49:

6 (show top 50) (show all 52) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MARVELD2 NM_001038603.2(MARVELD2):c.1331+4_1331+7delAGTGdeletion Pathogenic 1196
2 MARVELD2 MARVELD2, IVS4DS, T-C, +2SNV Pathogenic 1197
3 MARVELD2 NM_001038603.3(MARVELD2):c.1331+1G>ASNV Pathogenic 228359 rs762352115 5:68728503-68728503 5:69432676-69432676
4 MARVELD2 NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter)SNV Pathogenic/Likely pathogenic 1198 rs118203957 5:68728915-68728915 5:69433088-69433088
5 MARVELD2 NM_001038603.3(MARVELD2):c.1183-1G>ASNV Likely pathogenic 1195 rs200781822 5:68728353-68728353 5:69432526-69432526
6 MARVELD2 NM_001038603.3(MARVELD2):c.364G>A (p.Ala122Thr)SNV Conflicting interpretations of pathogenicity 178406 rs140764671 5:68715576-68715576 5:69419749-69419749
7 MARVELD2 NM_001038603.3(MARVELD2):c.500A>G (p.Gln167Arg)SNV Conflicting interpretations of pathogenicity 178407 rs139854607 5:68715712-68715712 5:69419885-69419885
8 MARVELD2 NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met)SNV Conflicting interpretations of pathogenicity 178409 rs72773422 5:68716110-68716110 5:69420283-69420283
9 MARVELD2 NM_001038603.3(MARVELD2):c.30G>A (p.Arg10=)SNV Conflicting interpretations of pathogenicity 195109 rs143592561 5:68715242-68715242 5:69419415-69419415
10 MARVELD2 NM_001038603.3(MARVELD2):c.306G>A (p.Pro102=)SNV Conflicting interpretations of pathogenicity 227543 rs181575833 5:68715518-68715518 5:69419691-69419691
11 MARVELD2 NM_001038603.3(MARVELD2):c.176C>T (p.Pro59Leu)SNV Conflicting interpretations of pathogenicity 287288 rs150434290 5:68715388-68715388 5:69419561-69419561
12 MARVELD2 NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=)SNV Conflicting interpretations of pathogenicity 43844 rs61736168 5:68728824-68728824 5:69432997-69432997
13 MARVELD2 NM_001038603.3(MARVELD2):c.453C>T (p.Asp151=)SNV Conflicting interpretations of pathogenicity 354080 rs147493796 5:68715665-68715665 5:69419838-69419838
14 MARVELD2 NM_001038603.3(MARVELD2):c.1248A>C (p.Thr416=)SNV Conflicting interpretations of pathogenicity 354092 rs146746360 5:68728419-68728419 5:69432592-69432592
15 MARVELD2 NM_001038603.3(MARVELD2):c.*171G>ASNV Uncertain significance 354097 rs756878174 5:68737652-68737652 5:69441825-69441825
16 MARVELD2 NM_001038603.3(MARVELD2):c.760C>G (p.Pro254Ala)SNV Uncertain significance 354087 rs141046438 5:68715972-68715972 5:69420145-69420145
17 MARVELD2 NM_001038603.3(MARVELD2):c.1033A>G (p.Met345Val)SNV Uncertain significance 354088 rs142560436 5:68716245-68716245 5:69420418-69420418
18 MARVELD2 NM_001038603.3(MARVELD2):c.1049T>C (p.Val350Ala)SNV Uncertain significance 354089 rs886060733 5:68716261-68716261 5:69420434-69420434
19 MARVELD2 NM_001038603.3(MARVELD2):c.1100G>T (p.Arg367Met)SNV Uncertain significance 354090 rs139908851 5:68716312-68716312 5:69420485-69420485
20 MARVELD2 NM_001038603.3(MARVELD2):c.1320C>A (p.Pro440=)SNV Uncertain significance 354093 rs376627126 5:68728491-68728491 5:69432664-69432664
21 MARVELD2 NM_001038603.3(MARVELD2):c.1443G>A (p.Arg481=)SNV Uncertain significance 354094 rs753543276 5:68728860-68728860 5:69433033-69433033
22 MARVELD2 NM_001038603.3(MARVELD2):c.*121C>TSNV Uncertain significance 354096 rs886060735 5:68737602-68737602 5:69441775-69441775
23 MARVELD2 NM_001038603.3(MARVELD2):c.*184C>TSNV Uncertain significance 354098 rs886060736 5:68737665-68737665 5:69441838-69441838
24 MARVELD2 NM_001038603.3(MARVELD2):c.454G>A (p.Ala152Thr)SNV Uncertain significance 354081 rs556047320 5:68715666-68715666 5:69419839-69419839
25 MARVELD2 NM_001038603.3(MARVELD2):c.728A>G (p.Tyr243Cys)SNV Uncertain significance 354085 rs115738510 5:68715940-68715940 5:69420113-69420113
26 MARVELD2 NM_001038603.3(MARVELD2):c.743A>G (p.Tyr248Cys)SNV Uncertain significance 354086 rs886060732 5:68715955-68715955 5:69420128-69420128
27 MARVELD2 NM_001038603.3(MARVELD2):c.1216G>A (p.Asp406Asn)SNV Uncertain significance 354091 rs886060734 5:68728387-68728387 5:69432560-69432560
28 MARVELD2 NM_001038603.3(MARVELD2):c.38G>A (p.Arg13His)SNV Uncertain significance 354078 rs374313745 5:68715250-68715250 5:69419423-69419423
29 MARVELD2 NM_001038603.3(MARVELD2):c.57C>T (p.Ser19=)SNV Uncertain significance 354079 rs772209957 5:68715269-68715269 5:69419442-69419442
30 MARVELD2 NM_001038603.3(MARVELD2):c.1660G>A (p.Val554Ile)SNV Uncertain significance 417899 rs199708957 5:68737464-68737464 5:69441637-69441637
31 MARVELD2 NM_001038603.3(MARVELD2):c.115C>T (p.Arg39Trp)SNV Uncertain significance 504612 rs145027254 5:68715327-68715327 5:69419500-69419500
32 MARVELD2 NM_001038603.3(MARVELD2):c.*97C>TSNV Uncertain significance 907030 5:68737578-68737578 5:69441751-69441751
33 MARVELD2 NM_001038603.3(MARVELD2):c.273A>T (p.Arg91Ser)SNV Uncertain significance 908016 5:68715485-68715485 5:69419658-69419658
34 MARVELD2 NM_001038603.3(MARVELD2):c.514T>C (p.Tyr172His)SNV Uncertain significance 904707 5:68715726-68715726 5:69419899-69419899
35 MARVELD2 NM_001038603.3(MARVELD2):c.834T>C (p.Tyr278=)SNV Uncertain significance 905494 5:68716046-68716046 5:69420219-69420219
36 MARVELD2 NM_001038603.3(MARVELD2):c.877G>C (p.Glu293Gln)SNV Uncertain significance 905495 5:68716089-68716089 5:69420262-69420262
37 MARVELD2 NM_001038603.3(MARVELD2):c.950G>A (p.Arg317Gln)SNV Uncertain significance 905496 5:68716162-68716162 5:69420335-69420335
38 MARVELD2 NM_001038603.3(MARVELD2):c.1253A>T (p.Lys418Ile)SNV Uncertain significance 906007 5:68728424-68728424 5:69432597-69432597
39 MARVELD2 NM_001038603.3(MARVELD2):c.1308T>C (p.Pro436=)SNV Uncertain significance 906008 5:68728479-68728479 5:69432652-69432652
40 MARVELD2 NM_001038603.3(MARVELD2):c.*8T>GSNV Uncertain significance 907029 5:68737489-68737489 5:69441662-69441662
41 MARVELD2 NM_001038603.3(MARVELD2):c.*157T>CSNV Uncertain significance 904780 5:68737638-68737638 5:69441811-69441811
42 MARVELD2 NM_001038603.3(MARVELD2):c.*266T>ASNV Uncertain significance 904781 5:68737747-68737747 5:69441920-69441920
43 MARVELD2 NM_001038603.3(MARVELD2):c.*346C>GSNV Uncertain significance 904782 5:68737827-68737827 5:69442000-69442000
44 MARVELD2 NM_001038603.3(MARVELD2):c.*376C>TSNV Uncertain significance 904783 5:68737857-68737857 5:69442030-69442030
45 MARVELD2 NM_001038603.3(MARVELD2):c.1555-13A>GSNV Uncertain significance 907028 5:68737346-68737346 5:69441519-69441519
46 MARVELD2 NM_001038603.3(MARVELD2):c.1491G>A (p.Ser497=)SNV Uncertain significance 354095 rs149176039 5:68728908-68728908 5:69433081-69433081
47 MARVELD2 NM_001038603.3(MARVELD2):c.*210A>GSNV Uncertain significance 354099 rs886060737 5:68737691-68737691 5:69441864-69441864
48 MARVELD2 NM_001038603.3(MARVELD2):c.808A>C (p.Ile270Leu)SNV Uncertain significance 290785 rs139234053 5:68716020-68716020 5:69420193-69420193
49 MARVELD2 NM_001038603.3(MARVELD2):c.491G>C (p.Arg164Pro)SNV Uncertain significance 354082 rs151176949 5:68715703-68715703 5:69419876-69419876
50 MARVELD2 NM_001038603.3(MARVELD2):c.662G>C (p.Trp221Ser)SNV Uncertain significance 354084 rs886060731 5:68715874-68715874 5:69420047-69420047

Expression for Deafness, Autosomal Recessive 49

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 49.

Pathways for Deafness, Autosomal Recessive 49

Pathways related to Deafness, Autosomal Recessive 49 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.41 OCLN MYO15A CLDN9 CLDN14
2 11.62 OCLN CLDN9 CLDN14
3 11.3 OCLN CLDN9 CLDN14
4 11.23 OCLN MARVELD3 MARVELD2 CLDN9 CLDN14
5 10.76 OCLN CLDN14

GO Terms for Deafness, Autosomal Recessive 49

Cellular components related to Deafness, Autosomal Recessive 49 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.96 PJVK OCLN MARVELD3 MARVELD2 LSR ILDR2
2 cell junction GO:0030054 9.63 OCLN MARVELD3 MARVELD2 GJB2 CLDN9 CLDN14
3 bicellular tight junction GO:0005923 9.35 OCLN MARVELD3 MARVELD2 CLDN9 CLDN14
4 lateral plasma membrane GO:0016328 9.32 OCLN GJB2
5 tricellular tight junction GO:0061689 8.8 MARVELD2 LSR ILDR1

Biological processes related to Deafness, Autosomal Recessive 49 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.55 POU3F4 PJVK MYO15A MARVELD2 GJB2
2 inner ear development GO:0048839 9.4 POU3F4 GJB2
3 maintenance of permeability of blood-brain barrier GO:0035633 9.37 OCLN LSR
4 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules GO:0016338 9.32 CLDN9 CLDN14
5 tight junction organization GO:0120193 9.26 OCLN CLDN9
6 cell-cell junction organization GO:0045216 9.26 OCLN MARVELD3 MARVELD2 CLDN9
7 bicellular tight junction assembly GO:0070830 9.02 OCLN MARVELD3 MARVELD2 CLDN9 CLDN14

Sources for Deafness, Autosomal Recessive 49

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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