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DFNX2
MCID: DFN036
MIFTS: 44

Deafness, X-Linked 2 (DFNX2)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Deafness, X-Linked 2

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MalaCards integrated aliases for Deafness, X-Linked 2:

Name: Deafness, X-Linked 2 56 52 29 13 6
Nance Deafness 56 12 52 73
Dfnx2 56 12 52 73
Dfn3 56 12 52 73
Perilymphatic Gusher-Deafness Syndrome 56 52 73
Sensorineural Deafness, Profound, with or Without a Conductive Component, Associated with a Unique Developmental Abnormality of the Ear 56 52
X-Linked Mixed Conductive and Sensorineural Deafness 12 73
X-Linked Mixed Conductive and Neurosensory Deafness 12 73
Deafness 3 Conductive with Stapes Fixation 52 73
Deafness Conductive with Stapes Fixation 52 73
Deafness Mixed with Perilymphatic Gusher 52 73
X-Linked Deafness 2 12 15
Deafness X-Linked 2 with Non-Syndromic Mental Retardation 73
X-Linked Mixed Conductive and Sensorineural Hearing Loss 12
X-Linked Mixed Conductive and Neurosensory Hearing Loss 12
Deafness 3, Conductive, with Stapes Fixation; Dfn3 56
Deafness Mixed with Perilymph Gusher X-Linked 73
Deafness 3, Conductive, with Stapes Fixation 56
Dfn 3 Nonsyndromic Hearing Loss and Deafness 52
Deafness, Conductive, with Stapes Fixation 56
Deafness, Mixed, with Perilymphatic Gusher 56
Conductive Deafness 3 with Stapes Fixation 12
Conductive Deafness with Stapes Fixation 12
Mixed Deafness with Perilymphatic Gusher 12
Progressive Hearing Loss Stapes Fixation 71
X-Linked Stapes Gusher Syndrome 12
Deafness, X-Linked, Type 2 39
X-Linked Deafness Type 2 12
Deafness, X-Linked, 2 73
Gusher Syndrome 52

Characteristics:

OMIM:

56
Inheritance:
x-linked recessive

Miscellaneous:
leakage of fluid ('gusher') if the stapes is disturbed
female carriers may have mild hearing impairment


HPO:

31
deafness, x-linked 2:
Inheritance x-linked recessive inheritance


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0111737
OMIM 56 304400
OMIM Phenotypic Series 56 PS304500
MeSH 43 D046089
SNOMED-CT via HPO 68 44057004
UMLS 71 C1844678
Sources

Summaries for Deafness, X-Linked 2

About this section
OMIM : 56 DFNX2, also known as DFN3, is an X-linked recessive disorder characterized by progressive conductive and sensorineural hearing loss and a pathognomonic temporal bone deformity that includes dilatation of the inner auditory canal and a fistulous connection between the internal auditory canal and the cochlear basal turn, resulting in a perilymphatic fluid 'gusher' during stapes surgery (summary by de Kok et al., 1995 and Song et al., 2010). See also choroideremia, deafness, and mental retardation (303110), a contiguous gene deletion syndrome involving the POU3F4 and CHM (300390) genes on Xq21; isolated choroideremia (303100) is caused by mutation in the CHM gene. (304400)

MalaCards based summary : Deafness, X-Linked 2, also known as nance deafness, is related to deafness, x-linked 1 and nonsyndromic hearing loss. An important gene associated with Deafness, X-Linked 2 is POU3F4 (POU Class 3 Homeobox 4), and among its related pathways/superpathways is Gap junction trafficking. Affiliated tissues include bone and brain, and related phenotypes are conductive hearing impairment and stapes ankylosis

Disease Ontology : 12 An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has material basis in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene on chromosome Xq21.1.

UniProtKB/Swiss-Prot : 73 Deafness, X-linked, 2: A form of deafness characterized by both conductive hearing loss resulting from stapes (perilymphatic gusher) fixation, and progressive sensorineural deafness.

Sources

Related Diseases for Deafness, X-Linked 2

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Diseases in the Y-Linked Deafness family:

Deafness, X-Linked 3 Deafness, X-Linked 4
Deafness, X-Linked 6 Deafness, X-Linked 7
Deafness, X-Linked 2 Deafness, X-Linked 1
Deafness, Y-Linked 1 Deafness, Y-Linked 2
X-Linked Nonsyndromic Deafness

Diseases related to Deafness, X-Linked 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 94)
# Related Disease Score Top Affiliating Genes
1 deafness, x-linked 1 32.4 TIMM8A SMPX PRPS1L1 PRPS1 POU3F4 COL4A6
2 nonsyndromic hearing loss 31.6 SLC26A4 PRPS1 KCNJ10 GJB6 GJB3 GJB2
3 branchiootic syndrome 1 31.2 SLC26A4 GJB2 EYA1
4 sensorineural hearing loss 29.0 TIMM8A SMPX SLC26A4 PRPS1 POU4F3 POU3F4
5 deafness mixed with perilymphatic gusher, x-linked 12.7
6 deafness x-linked, dfn3 12.3
7 deafness-hypogonadism syndrome 11.8
8 choroideremia 11.2
9 nonsyndromic hearing loss and deafness, dfna3 10.6 GJB6 GJB2
10 purulent labyrinthitis 10.5 GJB6 GJB2
11 viral labyrinthitis 10.5 GJB6 GJB2
12 x-linked charcot-marie-tooth disease 10.5 PRPS1 GJB2
13 congenital cytomegalovirus 10.5 GJB6 GJB2
14 keratitis-ichthyosis-deafness syndrome, autosomal dominant 10.5 GJB6 GJB2
15 labyrinthitis 10.5 SLC26A4 GJB2
16 mental retardation, x-linked, syndromic, martin-probst type 10.5 TIMM8A POU3F4
17 hypotrichosis-deafness syndrome 10.4 GJB3 GJB2
18 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
19 x-linked non-syndromic sensorineural deafness type dfn 10.4 SMPX PRPS1 COL4A6
20 autosomal recessive nonsyndromic deafness 3 10.4 SLC26A4 GJB2
21 arts syndrome 10.4 PRPS1L1 PRPS1 POU3F4
22 charcot-marie-tooth disease x-linked recessive 4 10.4 PRPS1 AIFM1
23 hereditary lymphedema ic 10.4 GJB3 GJB2
24 deafness, autosomal recessive 7 10.4 SLC26A4 GJB2
25 palmoplantar keratoderma and congenital alopecia 1 10.4 GJB3 GJB2
26 deafness, autosomal recessive 49 10.4 POU3F4 GJB2
27 charcot-marie-tooth disease type x 10.4 PRPS1L1 PRPS1 AIFM1
28 deafness, autosomal recessive 77 10.4 SLC26A4 GJB2
29 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.4
30 hypothalamic hamartomas 10.4
31 mollaret meningitis 10.4
32 deafness, autosomal dominant 56 10.4 SLC26A4 GJB2
33 deafness, autosomal dominant 41 10.4 SLC26A4 POU4F3 GJB2
34 mohr-tranebjaerg syndrome 10.4 TIMM8A SMPX POU3F4
35 erythrokeratoderma 10.4 GJB3 GJB2
36 deafness, autosomal dominant 6 10.4 SLC26A4 POU4F3 GJB2
37 nonsyndromic hearing loss and deafness, dfnb1 10.4 GJB6 GJB3 GJB2
38 deafness, autosomal recessive 9 10.4 SLC26A4 GJB2
39 dfnb1 10.4 GJB6 GJB3 GJB2
40 pseudoainhum 10.4 GJB6 GJB3 GJB2
41 deafness, autosomal dominant 20 10.4 SMPX SLC26A4 POU4F3
42 deafness, autosomal recessive 79 10.4 SMPX GJB2
43 pendred syndrome/nonsyndromic enlarged vestibular aqueduct 10.4 SLC26A4 KCNJ10
44 deafness, autosomal dominant 3a 10.4 GJB6 GJB3 GJB2
45 bart-pumphrey syndrome 10.4 GJB6 GJB3 GJB2
46 knuckle pads 10.4 GJB6 GJB3 GJB2
47 keratoderma, palmoplantar, with deafness 10.3 GJB6 GJB3 GJB2
48 deafness, autosomal dominant 2b 10.3 POU4F3 GJB3 GJB2
49 charcot-marie-tooth disease, x-linked recessive, 5 10.3 SMPX PRPS1L1 PRPS1 POU3F4
50 clouston syndrome 10.3 GJB6 GJB3 GJB2

Graphical network of the top 20 diseases related to Deafness, X-Linked 2:



Diseases related to Deafness, X-Linked 2
Sources

Symptoms & Phenotypes for Deafness, X-Linked 2

About this section

Human phenotypes related to Deafness, X-Linked 2:

31
# Description HPO Frequency HPO Source Accession
1 conductive hearing impairment 31 HP:0000405
2 stapes ankylosis 31 HP:0000381
3 dilatated internal auditory canal 31 HP:0004458
4 progressive sensorineural hearing impairment 31 HP:0000408

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
hearing loss, conductive
stapes fixation
deafness, profound
hearing loss, sensorineural, progressive
wide bulbous internal auditory meatus
more

Clinical features from OMIM:

304400

MGI Mouse Phenotypes related to Deafness, X-Linked 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.56 EYA1 GJB2 GJB3 GJB6 KCNJ10 POU3F4
2 nervous system MP:0003631 9.36 AIFM1 CHM EPHA4 EYA1 GJB2 GJB6
Sources

Drugs & Therapeutics for Deafness, X-Linked 2

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Search Clinical Trials , NIH Clinical Center for Deafness, X-Linked 2

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Genetic Tests for Deafness, X-Linked 2

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Genetic tests related to Deafness, X-Linked 2:

# Genetic test Affiliating Genes
1 Deafness, X-Linked 2 29 GJB2 GJB6 POU3F4
Sources

Anatomical Context for Deafness, X-Linked 2

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MalaCards organs/tissues related to Deafness, X-Linked 2:

40
Bone, Brain
Sources

Publications for Deafness, X-Linked 2

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Articles related to Deafness, X-Linked 2:

(show all 49)
# Title Authors PMID Year
1
Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3. 56 6
7581392 1995
2
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. 56 6
7839145 1995
3
A multipedigree linkage study of X-linked deafness: linkage to Xq13-q21 and evidence for genetic heterogeneity. 56 6
1783396 1991
4
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 6
24651602 2014
5
Destabilization and mislocalization of POU3F4 by C-terminal frameshift truncation and extension mutation. 6
23076972 2013
6
Clinical evaluation of DFN3 patients with deletions in the POU3F4 locus and detection of carrier female using MLPA. 56
20412083 2010
7
Novel POU3F4 mutations and clinical features of DFN3 patients with cochlear implants. 56
19438930 2009
8
Sex-linked deafness. 56
18005182 2008
9
Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness. 56
17935254 2007
10
Altered cochlear fibrocytes in a mouse model of DFN3 nonsyndromic deafness. 56
10464101 1999
11
Hereditary Hearing Loss and Deafness Overview 6
20301607 1999
12
The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutation. 6
9298820 1997
13
A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene. 56
8589693 1995
14
X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions. 56
7981685 1994
15
A family with X-linked deafness showing linkage to the proximal Xq region of the X chromosome. 56
1362559 1992
16
Physical fine mapping of genes underlying X-linked deafness and non fra (X)-X-linked mental retardation at Xq21. 56
1511979 1992
17
Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3). 56
1609803 1992
18
X-linked deafness, stapes gushers and a distinctive defect of the inner ear. 56
1922747 1991
19
Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21. 56
2491012 1989
20
The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK. 56
2904400 1988
21
X-linked mixed deafness with stapes fixation in a Mauritian kindred: linkage to Xq probe pDP34. 56
3243543 1988
22
Choroideremia, congenital deafness and mental retardation in a family with an X chromosomal deletion. 56
3438052 1987
23
Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation. 56
3476958 1987
24
Audiologic features of the X-linked progressive mixed deafness syndrome with perilymphatic gusher during stapes gusher. 56
4039896 1985
25
X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery. 56
3977755 1985
26
Clinical features of female heterozygotes in the X-linked mixed deafness syndrome (with perilymphatic gusher during stapes surgery). 56
6662621 1983
27
Choroideremia, obesity, and congenital deafness. 56
7258279 1981
28
X-linked deafness in a South African kindred. 56
4821674 1974
29
Sex-linked congenital deafness. 56
5822288 1969
30
Cerebrospinal fluid otorrhea and the congenitally fixed stapes. 56
5642491 1968
31
Sex-linked recessive congenital deafness and the excess of males in profound childhood deafness. 56
5865628 1965
32
Pou3f4-expressing otic mesenchyme cells promote spiral ganglion neuron survival in the postnatal mouse cochlea. 61
31994726 2020
33
A Case Series of X-Linked Deafness-2 with Sensorineural Hearing Loss, Stapes Fixation, and Perilymphatic Gusher: MR Imaging and Clinical Features of Hypothalamic Malformations. 61
32409310 2020
34
Genetic identification and molecular modeling characterization of a novel POU3F4 variant in two Italian deaf brothers. 61
31786483 2020
35
Identification of a Novel Frameshift Variant of POU3F4 and Genetic Counseling of Korean Incomplete Partition Type III Subjects Based on Detailed Genotypes. 61
31063410 2019
36
Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families. 61
30176854 2018
37
X-Linked Sensorineural Hearing Loss: A Literature Review. 61
30065609 2018
38
A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2). 61
29287890 2018
39
Facial nerve stimulation following cochlear implantation for X-linked stapes gusher syndrome leading to identification of a novel POU3F4 mutation. 61
27863625 2016
40
Clinical observations and molecular variables of patients with hearing loss and incomplete partition type III. 61
26600195 2016
41
Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss. 61
27941975 2016
42
De novo large genomic deletions involving POU3F4 in incomplete partition type III inner ear anomaly in East Asian populations and implications for genetic counseling. 61
24608376 2015
43
X-linked hearing loss: two gene mutation examples provide generalizable implications for clinical care. 61
24687041 2014
44
X-linked deafness-2 (DFNX2) phenotype associated with a paracentric inversion upstream of POU3F4. 61
24096866 2014
45
Pou3f4-mediated regulation of ephrin-b2 controls temporal bone development in the mouse. 61
25299585 2014
46
Audiological and surgical evidence for the presence of a third window effect for the conductive hearing loss in DFNX2 deafness irrespective of types of mutations. 61
23400403 2013
47
Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice. 61
23606368 2013
48
Otic mesenchyme cells regulate spiral ganglion axon fasciculation through a Pou3f4/EphA4 signaling pathway. 61
22243746 2012
49
Identification of a novel mutation in POU3F4 for prenatal diagnosis in a Chinese family with X-linked nonsyndromic hearing loss. 61
21193157 2010
Sources

Variations for Deafness, X-Linked 2

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ClinVar genetic disease variations for Deafness, X-Linked 2:

6 (show top 50) (show all 55) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POU3F4 NM_000307.5(POU3F4):c.877C>G (p.Leu293Val)SNV Pathogenic 417622 rs780027419 X:82764209-82764209 X:83509201-83509201
2 POU3F4 NM_000307.5(POU3F4):c.249dup (p.Gly84fs)duplication Pathogenic 560726 rs1569280138 X:82763578-82763579 X:83508570-83508571
3 POU3F4 NM_000307.5(POU3F4):c.975G>A (p.Trp325Ter)SNV Pathogenic 599350 rs1569280385 X:82764307-82764307 X:83509299-83509299
4 POU3F4 NM_000307.5(POU3F4):c.170G>A (p.Trp57Ter)SNV Pathogenic 627470 rs1454033665 X:82763502-82763502 X:83508494-83508494
5 POU3F4 NM_000307.5(POU3F4):c.967C>G (p.Arg323Gly)SNV Pathogenic 11684 rs104894924 X:82764299-82764299 X:83509291-83509291
6 GJB6 NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg)SNV Pathogenic 5544 rs104894415 13:20797589-20797589 13:20223450-20223450
7 POU3F4 NM_000307.5(POU3F4):c.990A>T (p.Arg330Ser)SNV Pathogenic 11683 rs104894923 X:82764322-82764322 X:83509314-83509314
8 POU3F4 NM_000307.5(POU3F4):c.648del (p.Leu217fs)deletion Pathogenic 11677 rs1555984570 X:82763977-82763977 X:83508969-83508969
9 POU3F4 NM_000307.5(POU3F4):c.604A>T (p.Lys202Ter)SNV Pathogenic 11678 rs104894920 X:82763936-82763936 X:83508928-83508928
10 POU3F4 NM_000307.5(POU3F4):c.950T>G (p.Leu317Trp)SNV Pathogenic 11679 rs104894921 X:82764282-82764282 X:83509274-83509274
11 POU3F4 NM_000307.5(POU3F4):c.1000A>G (p.Lys334Glu)SNV Pathogenic 11680 rs104894922 X:82764332-82764332 X:83509324-83509324
12 POU3F4 NM_000307.5(POU3F4):c.862_865del (p.Val289fs)deletion Pathogenic 11681 rs730882189 X:82764191-82764194 X:83509183-83509186
13 POU3F4 NM_000307.5(POU3F4):c.935C>T (p.Ala312Val)SNV Pathogenic 11682 rs387906502 X:82764267-82764267 X:83509259-83509259
14 GJB2 NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)SNV Pathogenic 17001 rs80338944 13:20763490-20763490 13:20189351-20189351
15 GJB2 NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)SNV Pathogenic 17002 rs104894396 13:20763650-20763650 13:20189511-20189511
16 GJB2 NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)SNV Pathogenic 17005 rs104894398 13:20763582-20763582 13:20189443-20189443
17 GJB2 NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)SNV Pathogenic 17009 rs80338948 13:20763294-20763294 13:20189155-20189155
18 GJB2 NM_004004.6(GJB2):c.109G>A (p.Val37Ile)SNV Pathogenic 17023 rs72474224 13:20763612-20763612 13:20189473-20189473
19 GJB2 NM_004004.6(GJB2):c.-23+1G>ASNV Pathogenic 17029 rs80338940 13:20766921-20766921 13:20192782-20192782
20 POU3F4 NM_000307.5(POU3F4):c.950dup (p.Leu317fs)duplication Pathogenic 41457 rs398122516 X:82764280-82764281 X:83509272-83509273
21 POU3F4 NM_000307.5(POU3F4):c.1060del (p.Thr354fs)deletion Pathogenic 41458 rs398122517 X:82764389-82764389 X:83509381-83509381
22 POU3F4 NM_000307.5(POU3F4):c.853_854del (p.Ile285fs)deletion Pathogenic 43352 rs397516336 X:82764185-82764186 X:83509177-83509178
23 GJB2 NM_004004.6(GJB2):c.1A>G (p.Met1Val)SNV Pathogenic 44729 rs111033293 13:20763720-20763720 13:20189581-20189581
24 POU3F4 NM_000307.4(POU3F4):c.896delA (p.Lys299Serfs)deletion Pathogenic 156303 rs267606974 X:82764227-82764227 X:83509219-83509219
25 GJB2 NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)SNV Pathogenic 44763 rs111033294 13:20763104-20763104 13:20188965-20188965
26 POU3F4 NM_000307.5(POU3F4):c.235C>T (p.Gln79Ter)SNV Pathogenic 236062 rs878853242 X:82763567-82763567 X:83508559-83508559
27 GJB2 NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr)SNV Pathogenic 265481 rs774518779 13:20763215-20763215 13:20189076-20189076
28 GJB2 NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)SNV Pathogenic/Likely pathogenic 188830 rs104894413 13:20763590-20763590 13:20189451-20189451
29 GJB2 NM_004004.6(GJB2):c.379C>T (p.Arg127Cys)SNV Pathogenic/Likely pathogenic 163514 rs727503066 13:20763342-20763342 13:20189203-20189203
30 GJB2 NM_004004.6(GJB2):c.283G>A (p.Val95Met)SNV Pathogenic/Likely pathogenic 44735 rs111033299 13:20763438-20763438 13:20189299-20189299
31 GJB2 NM_004004.6(GJB2):c.94C>A (p.Arg32Ser)SNV Pathogenic/Likely pathogenic 550195 rs371024165 13:20763627-20763627 13:20189488-20189488
32 GJB2 NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)SNV Likely pathogenic 44740 rs104894408 13:20763687-20763687 13:20189548-20189548
33 GJB2 NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)SNV Conflicting interpretations of pathogenicity 44749 rs76434661 13:20763305-20763305 13:20189166-20189166
34 GJB2 NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)SNV Conflicting interpretations of pathogenicity 17016 rs80338945 13:20763452-20763452 13:20189313-20189313
35 GJB2 NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)SNV Conflicting interpretations of pathogenicity 17007 rs80338950 13:20763170-20763170 13:20189031-20189031
36 POU3F4 NM_000307.5(POU3F4):c.391C>T (p.Leu131Phe)SNV Uncertain significance 913161 X:82763723-82763723 X:83508715-83508715
37 POU3F4 NM_000307.5(POU3F4):c.530C>T (p.Ser177Leu)SNV Uncertain significance 913162 X:82763862-82763862 X:83508854-83508854
38 POU3F4 NM_000307.5(POU3F4):c.585A>G (p.Glu195=)SNV Uncertain significance 913163 X:82763917-82763917 X:83508909-83508909
39 POU3F4 NM_000307.5(POU3F4):c.845G>T (p.Arg282Leu)SNV Uncertain significance 402272 rs1060499806 X:82764177-82764177 X:83509169-83509169
40 GJB6 NM_001110219.3(GJB6):c.179G>T (p.Cys60Phe)SNV Uncertain significance 426683 rs750540794 13:20797441-20797441 13:20223302-20223302
41 GJB2 NM_004004.6(GJB2):c.188T>C (p.Val63Ala)SNV Uncertain significance 177751 rs727504309 13:20763533-20763533 13:20189394-20189394
42 POU3F4 NM_000307.5(POU3F4):c.*297T>CSNV Uncertain significance 914803 X:82764715-82764715 X:83509707-83509707
43 GJB2 NM_004004.6(GJB2):c.663G>C (p.Lys221Asn)SNV Uncertain significance 44764 rs375599392 13:20763058-20763058 13:20188919-20188919
44 GJB2 NM_004004.6(GJB2):c.670A>C (p.Lys224Gln)SNV Uncertain significance 44765 rs111033194 13:20763051-20763051 13:20188912-20188912
45 POU3F4 NM_000307.5(POU3F4):c.*141T>CSNV Uncertain significance 368735 rs368408951 X:82764559-82764559 X:83509551-83509551
46 POU3F4 NM_000307.5(POU3F4):c.*41C>ASNV Uncertain significance 368733 rs1057516008 X:82764459-82764459 X:83509451-83509451
47 POU3F4 NM_000307.5(POU3F4):c.*192T>CSNV Uncertain significance 368736 rs775863791 X:82764610-82764610 X:83509602-83509602
48 POU3F4 NM_000307.5(POU3F4):c.*105C>TSNV Likely benign 368734 rs777244703 X:82764523-82764523 X:83509515-83509515
49 POU3F4 NM_000307.5(POU3F4):c.24C>T (p.Pro8=)SNV Likely benign 811912 X:82763356-82763356 X:83508348-83508348
50 POU3F4 NM_000307.5(POU3F4):c.753G>A (p.Leu251=)SNV Benign/Likely benign 368732 rs779713849 X:82764085-82764085 X:83509077-83509077

UniProtKB/Swiss-Prot genetic disease variations for Deafness, X-Linked 2:

73
# Symbol AA change Variation ID SNP ID
1 POU3F4 p.Ala312Val VAR_003782 rs387906502
2 POU3F4 p.Leu317Trp VAR_003783 rs104894921
3 POU3F4 p.Arg323Gly VAR_003784 rs104894924
4 POU3F4 p.Arg330Ser VAR_003785 rs104894923
5 POU3F4 p.Lys334Glu VAR_003786 rs104894922

Sources

Expression for Deafness, X-Linked 2

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Search GEO for disease gene expression data for Deafness, X-Linked 2.
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Pathways for Deafness, X-Linked 2

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Pathways related to Deafness, X-Linked 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Gap junction trafficking 65
Show member pathways
 10.79 GJB6 GJB3 GJB2
Sources

GO Terms for Deafness, X-Linked 2

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Cellular components related to Deafness, X-Linked 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell body GO:0044297 9.43 KCNJ10 GJB2 EPHA4
2 astrocyte projection GO:0097449 9.32 KCNJ10 GJB2
3 ribose phosphate diphosphokinase complex GO:0002189 9.16 PRPS1L1 PRPS1
4 gap junction GO:0005921 9.13 GJB6 GJB3 GJB2
5 connexin complex GO:0005922 8.8 GJB6 GJB3 GJB2

Biological processes related to Deafness, X-Linked 2 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cochlea morphogenesis GO:0090103 9.54 POU3F4 EYA1
2 nucleoside metabolic process GO:0009116 9.52 PRPS1L1 PRPS1
3 purine nucleotide biosynthetic process GO:0006164 9.51 PRPS1L1 PRPS1
4 nucleotide biosynthetic process GO:0009165 9.49 PRPS1L1 PRPS1
5 gap junction assembly GO:0016264 9.48 GJB6 GJB2
6 cell communication by electrical coupling GO:0010644 9.46 GJB6 GJB2
7 ribonucleoside monophosphate biosynthetic process GO:0009156 9.43 PRPS1L1 PRPS1
8 cell communication GO:0007154 9.43 GJB6 GJB3 GJB2
9 gap junction-mediated intercellular transport GO:1990349 9.4 GJB6 GJB2
10 ear morphogenesis GO:0042471 9.37 GJB6 EYA1
11 5-phosphoribose 1-diphosphate biosynthetic process GO:0006015 9.32 PRPS1L1 PRPS1
12 inner ear development GO:0048839 9.26 POU4F3 POU3F4 GJB6 GJB2
13 cellular biosynthetic process GO:0044249 9.16 PRPS1L1 PRPS1
14 sensory perception of sound GO:0007605 9.1 SLC26A4 POU4F3 POU3F4 GJB6 GJB2 EYA1

Molecular functions related to Deafness, X-Linked 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ribose phosphate diphosphokinase activity GO:0004749 9.16 PRPS1L1 PRPS1
2 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 8.96 GJB6 GJB2
3 gap junction channel activity GO:0005243 8.8 GJB6 GJB3 GJB2
Sources

Sources for Deafness, X-Linked 2

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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
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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