DFNB49
MCID: DFN092
MIFTS: 38

Deafness, Autosomal Recessive 49 (DFNB49)

Categories: 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 57 29 13 6 71
Dfnb49 57 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®:

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


HPO:

31
deafness, autosomal recessive 49:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110506
OMIM® 57 610153
OMIM Phenotypic Series 57 PS220290
MeSH 44 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 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 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 Cell adhesion molecules. 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 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 49 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 30.0 GJB2 CLDN9
2 branchiootic syndrome 1 29.6 PJVK MARVELD2 ILDR1 GJB2
3 sensorineural hearing loss 28.5 POU3F4 MYO15A MARVELD2 ILDR1 GJB2 CLDN14
4 deafness, autosomal dominant 51 10.2 MARVELD2 CLDN14
5 deafness, autosomal recessive 67 10.1 PJVK ILDR1
6 hereditary hearing loss and deafness 10.0 POU3F4 CLDN14
7 deafness, autosomal recessive 39 10.0 GJB2 CLDN14
8 pseudo-torch syndrome 1 9.9 OCLN MARVELD3 MARVELD2
9 deafness, autosomal recessive 93 9.9 PJVK GJB2
10 deafness, autosomal recessive 77 9.9 PJVK GJB2
11 auditory neuropathy, autosomal dominant, 1 9.9 PJVK GJB2
12 deafness, autosomal recessive 100 9.9
13 nonsyndromic deafness 9.9
14 deafness, x-linked 5, with peripheral neuropathy 9.9 POU3F4 PJVK
15 x-linked nonsyndromic deafness 9.9 POU3F4 GJB2
16 deafness, autosomal recessive 83 9.8 PJVK MYO15A
17 deafness, x-linked 2 9.8 POU3F4 GJB2
18 deafness, autosomal recessive 25 9.8 PJVK MYO15A
19 deafness, autosomal recessive 22 9.8 PJVK MYO15A
20 deafness, autosomal recessive 63 9.8 PJVK MYO15A
21 deafness, autosomal recessive 3 9.8 MYO15A GJB2
22 deafness, autosomal recessive 1a 9.8 PJVK GJB2 CLDN14
23 deafness, autosomal recessive 79 9.8 MYO15A GJB2
24 deafness, autosomal dominant 6 9.7 MYO15A GJB2
25 deafness, autosomal dominant 11 9.7 MYO15A GJB2
26 deafness, autosomal dominant 1, with or without thrombocytopenia 9.7 MYO15A GJB2
27 deafness, autosomal recessive 16 9.7 MYO15A GJB2
28 deafness, autosomal recessive 24 9.7 PJVK MYO15A ILDR1
29 deafness, autosomal recessive 15 9.7 PJVK MYO15A ILDR1
30 deafness, autosomal dominant 36 9.7 MYO15A GJB2
31 vestibular disease 9.7 MYO15A GJB2
32 deafness, autosomal recessive 9.7 PJVK MARVELD2 ILDR1 GJB2
33 autosomal recessive nonsyndromic deafness 9.7 MYO15A ILDR1 GJB2
34 usher syndrome, type id 9.6 MYO15A GJB2
35 deafness, autosomal recessive 12 9.6 MYO15A GJB2
36 deafness, autosomal recessive 1b 9.6 POU3F4 MYO15A GJB2
37 pendred syndrome 9.5 POU3F4 MYO15A GJB2
38 deafness, autosomal recessive 2 9.5 PJVK MYO15A GJB2
39 autosomal recessive nonsyndromic deafness 3 9.5 PJVK MYO15A GJB2
40 waardenburg's syndrome 9.5 POU3F4 MYO15A GJB2
41 deafness, autosomal recessive 8 9.5 PJVK MYO15A GJB2
42 deafness, autosomal recessive 7 9.5 PJVK MYO15A GJB2
43 deafness, autosomal recessive 21 9.5 PJVK MYO15A GJB2
44 deafness, autosomal recessive 9 9.5 PJVK MYO15A GJB2
45 otosclerosis 9.5 PJVK MYO15A GJB2
46 usher syndrome, type i 9.4 PJVK MYO15A GJB2
47 deafness, autosomal recessive 29 9.4 MARVELD2 ILDR2 ILDR1 GJB2 CLDN9 CLDN14
48 non-syndromic genetic deafness 9.4 MYO15A GJB2
49 deafness, autosomal recessive 42 9.3 PJVK MARVELD2 LSR ILDR2 ILDR1 CLDN9
50 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.3 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®:

57 (Updated 05-Mar-2021)
Head And Neck Ears:
deafness, prelingual, profound (affects all frequencies)

Clinical features from OMIM®:

610153 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 49:

46
# 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

Publications for Deafness, Autosomal Recessive 49

Articles related to Deafness, Autosomal Recessive 49:

(show all 14)
# Title Authors PMID Year
1
Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families. 6 57 61
18084694 2008
2
Tricellulin is a tight-junction protein necessary for hearing. 61 57 6
17186462 2006
3
A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1. 57 61
15538632 2005
4
New SNP variants of MARVELD2 (DFNB49) associated with non-syndromic hearing loss in Chinese population. 61
30406641 2019
5
Deletion of Tricellulin Causes Progressive Hearing Loss Associated with Degeneration of Cochlear Hair Cells. 61
26677943 2015
6
Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss. 61
25666562 2015
7
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
8
Deficiency of angulin-2/ILDR1, a tricellular tight junction-associated membrane protein, causes deafness with cochlear hair cell degeneration in mice. 61
25822906 2015
9
MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin. 61
25885414 2015
10
Deafness in occludin-deficient mice with dislocation of tricellulin and progressive apoptosis of the hair cells. 61
25063198 2014
11
[Molecular organization of tricellular tight junctions]. 61
24790043 2014
12
Tricellulin deficiency affects tight junction architecture and cochlear hair cells. 61
23979167 2013
13
Analysis of the 'angulin' proteins LSR, ILDR1 and ILDR2--tricellulin recruitment, epithelial barrier function and implication in deafness pathogenesis. 61
23239027 2013
14
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+7delAGTG Deletion Pathogenic 1196
2 MARVELD2 MARVELD2, IVS4DS, T-C, +2 SNV Pathogenic 1197
3 MARVELD2 NM_001038603.3(MARVELD2):c.1331+1G>A SNV Pathogenic/Likely 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>A SNV Likely pathogenic 1195 rs200781822 5:68728353-68728353 5:69432526-69432526
6 MARVELD2 NM_001038603.3(MARVELD2):c.743A>G (p.Tyr248Cys) SNV Uncertain significance 354086 rs886060732 5:68715955-68715955 5:69420128-69420128
7 MARVELD2 NM_001038603.3(MARVELD2):c.500A>G (p.Gln167Arg) SNV Uncertain significance 178407 rs139854607 5:68715712-68715712 5:69419885-69419885
8 MARVELD2 NM_001038603.3(MARVELD2):c.454G>A (p.Ala152Thr) SNV Uncertain significance 354081 rs556047320 5:68715666-68715666 5:69419839-69419839
9 MARVELD2 NM_001038603.3(MARVELD2):c.1049T>C (p.Val350Ala) SNV Uncertain significance 354089 rs886060733 5:68716261-68716261 5:69420434-69420434
10 MARVELD2 NM_001038603.3(MARVELD2):c.1320C>A (p.Pro440=) SNV Uncertain significance 354093 rs376627126 5:68728491-68728491 5:69432664-69432664
11 MARVELD2 NM_001038603.3(MARVELD2):c.1491G>A (p.Ser497=) SNV Uncertain significance 354095 rs149176039 5:68728908-68728908 5:69433081-69433081
12 MARVELD2 NM_001038603.3(MARVELD2):c.*184C>T SNV Uncertain significance 354098 rs886060736 5:68737665-68737665 5:69441838-69441838
13 MARVELD2 NM_001038603.3(MARVELD2):c.491G>C (p.Arg164Pro) SNV Uncertain significance 354082 rs151176949 5:68715703-68715703 5:69419876-69419876
14 MARVELD2 NM_001038603.3(MARVELD2):c.176C>T (p.Pro59Leu) SNV Uncertain significance 287288 rs150434290 5:68715388-68715388 5:69419561-69419561
15 MARVELD2 NM_001038603.3(MARVELD2):c.38G>A (p.Arg13His) SNV Uncertain significance 354078 rs374313745 5:68715250-68715250 5:69419423-69419423
16 MARVELD2 NM_001038603.3(MARVELD2):c.1660G>A (p.Val554Ile) SNV Uncertain significance 417899 rs199708957 5:68737464-68737464 5:69441637-69441637
17 MARVELD2 NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met) SNV Uncertain significance 178409 rs72773422 5:68716110-68716110 5:69420283-69420283
18 MARVELD2 NM_001038603.3(MARVELD2):c.115C>T (p.Arg39Trp) SNV Uncertain significance 504612 rs145027254 5:68715327-68715327 5:69419500-69419500
19 MARVELD2 NM_001038603.3(MARVELD2):c.306G>A (p.Pro102=) SNV Uncertain significance 227543 rs181575833 5:68715518-68715518 5:69419691-69419691
20 MARVELD2 NM_001038603.3(MARVELD2):c.364G>A (p.Ala122Thr) SNV Uncertain significance 178406 rs140764671 5:68715576-68715576 5:69419749-69419749
21 MARVELD2 NM_001038603.3(MARVELD2):c.514T>C (p.Tyr172His) SNV Uncertain significance 904707 5:68715726-68715726 5:69419899-69419899
22 MARVELD2 NM_001038603.3(MARVELD2):c.*157T>C SNV Uncertain significance 904780 5:68737638-68737638 5:69441811-69441811
23 MARVELD2 NM_001038603.3(MARVELD2):c.*266T>A SNV Uncertain significance 904781 5:68737747-68737747 5:69441920-69441920
24 MARVELD2 NM_001038603.3(MARVELD2):c.*346C>G SNV Uncertain significance 904782 5:68737827-68737827 5:69442000-69442000
25 MARVELD2 NM_001038603.3(MARVELD2):c.*376C>T SNV Uncertain significance 904783 5:68737857-68737857 5:69442030-69442030
26 MARVELD2 NM_001038603.3(MARVELD2):c.808A>C (p.Ile270Leu) SNV Uncertain significance 290785 rs139234053 5:68716020-68716020 5:69420193-69420193
27 MARVELD2 NM_001038603.3(MARVELD2):c.834T>C (p.Tyr278=) SNV Uncertain significance 905494 5:68716046-68716046 5:69420219-69420219
28 MARVELD2 NM_001038603.3(MARVELD2):c.877G>C (p.Glu293Gln) SNV Uncertain significance 905495 5:68716089-68716089 5:69420262-69420262
29 MARVELD2 NM_001038603.3(MARVELD2):c.950G>A (p.Arg317Gln) SNV Uncertain significance 905496 5:68716162-68716162 5:69420335-69420335
30 MARVELD2 NM_001038603.3(MARVELD2):c.1253A>T (p.Lys418Ile) SNV Uncertain significance 906007 5:68728424-68728424 5:69432597-69432597
31 MARVELD2 NM_001038603.3(MARVELD2):c.1308T>C (p.Pro436=) SNV Uncertain significance 906008 5:68728479-68728479 5:69432652-69432652
32 MARVELD2 NM_001038603.3(MARVELD2):c.1555-13A>G SNV Uncertain significance 907028 5:68737346-68737346 5:69441519-69441519
33 MARVELD2 NM_001038603.3(MARVELD2):c.*8T>G SNV Uncertain significance 907029 5:68737489-68737489 5:69441662-69441662
34 MARVELD2 NM_001038603.3(MARVELD2):c.*97C>T SNV Uncertain significance 907030 5:68737578-68737578 5:69441751-69441751
35 MARVELD2 NM_001038603.3(MARVELD2):c.273A>T (p.Arg91Ser) SNV Uncertain significance 908016 5:68715485-68715485 5:69419658-69419658
36 MARVELD2 NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=) SNV Uncertain significance 43844 rs61736168 5:68728824-68728824 5:69432997-69432997
37 MARVELD2 NM_001038603.3(MARVELD2):c.760C>G (p.Pro254Ala) SNV Uncertain significance 354087 rs141046438 5:68715972-68715972 5:69420145-69420145
38 MARVELD2 NM_001038603.3(MARVELD2):c.662G>C (p.Trp221Ser) SNV Uncertain significance 354084 rs886060731 5:68715874-68715874 5:69420047-69420047
39 MARVELD2 NM_001038603.3(MARVELD2):c.57C>T (p.Ser19=) SNV Uncertain significance 354079 rs772209957 5:68715269-68715269 5:69419442-69419442
40 MARVELD2 NM_001038603.3(MARVELD2):c.1216G>A (p.Asp406Asn) SNV Uncertain significance 354091 rs886060734 5:68728387-68728387 5:69432560-69432560
41 MARVELD2 NM_001038603.3(MARVELD2):c.*210A>G SNV Uncertain significance 354099 rs886060737 5:68737691-68737691 5:69441864-69441864
42 MARVELD2 NM_001038603.3(MARVELD2):c.728A>G (p.Tyr243Cys) SNV Uncertain significance 354085 rs115738510 5:68715940-68715940 5:69420113-69420113
43 MARVELD2 NM_001038603.3(MARVELD2):c.*121C>T SNV Uncertain significance 354096 rs886060735 5:68737602-68737602 5:69441775-69441775
44 MARVELD2 NM_001038603.3(MARVELD2):c.453C>T (p.Asp151=) SNV Uncertain significance 354080 rs147493796 5:68715665-68715665 5:69419838-69419838
45 MARVELD2 NM_001038603.3(MARVELD2):c.1100G>T (p.Arg367Met) SNV Uncertain significance 354090 rs139908851 5:68716312-68716312 5:69420485-69420485
46 MARVELD2 NM_001038603.3(MARVELD2):c.1033A>G (p.Met345Val) SNV Uncertain significance 354088 rs142560436 5:68716245-68716245 5:69420418-69420418
47 MARVELD2 NM_001038603.3(MARVELD2):c.30G>A (p.Arg10=) SNV Uncertain significance 195109 rs143592561 5:68715242-68715242 5:69419415-69419415
48 MARVELD2 NM_001038603.3(MARVELD2):c.*171G>A SNV Uncertain significance 354097 rs756878174 5:68737652-68737652 5:69441825-69441825
49 MARVELD2 NM_001038603.3(MARVELD2):c.1443G>A (p.Arg481=) SNV Uncertain significance 354094 rs753543276 5:68728860-68728860 5:69433033-69433033
50 MARVELD2 NM_001038603.3(MARVELD2):c.1248A>C (p.Thr416=) SNV Uncertain significance 354092 rs146746360 5:68728419-68728419 5:69432592-69432592

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
12.35 OCLN MYO15A CLDN9 CLDN14
2 11.31 OCLN CLDN9 CLDN14
3 11.25 OCLN MARVELD3 MARVELD2 CLDN9 CLDN14
4 10.66 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 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
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
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