MCID: DFN245
MIFTS: 46

Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct malady

Categories: Genetic diseases, Rare diseases, Ear diseases, Neuronal diseases

Aliases & Classifications for Deafness, Autosomal Recessive 4, with Enlarged Vestibular...

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Aliases & Descriptions for Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct:

Name: Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct 52 12 68
Enlarged Vestibular Aqueduct 52 11 70 13
Enlarged Vestibular Aqueduct Syndrome 48 27 50
Dfnb4 11 70 50
Autosomal Recessive Deafness 4 with Enlarged Vestibular Aqueduct 11
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4 70
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4 70
Neurosensory Nonsyndromic Recessive Deafness 4 70
 
Autosomal Recessive Nonsyndromic Deafness 4 11
Deafness Neurosensory Autosomal Recessive 4 70
Enlarged Vestibular Aqueduct, Digenic 52
Large Vestibular Aqueduct Syndrome 48
Deafness, Autosomal Recessive, 4 70
Nsrd4 70
Eva 70

Characteristics:

HPO:

64
deafness, autosomal recessive 4, with enlarged vestibular aqueduct:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 600791
Disease Ontology11 DOID:0050332, DOID:0110498
ICD1030 H90.3
MedGen37 C1863752
MeSH39 D006319

Summaries for Deafness, Autosomal Recessive 4, with Enlarged Vestibular...

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OMIM:52 DFNB4 with enlarged vestibular aqueduct is characterized by pre- or perilingual onset of sensorineural or mixed hearing... (600791) more...

MalaCards based summary: Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct, also known as enlarged vestibular aqueduct, is related to pendred syndrome and pendred syndrome/dfnb4, and has symptoms including incomplete partition of the cochlea type ii, sensorineural hearing impairment and enlarged vestibular aqueduct. An important gene associated with Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct is SLC26A4 (Solute Carrier Family 26 Member 4), and among its related pathways are Signaling in Gap Junctions and Gap junction trafficking. Affiliated tissues include brain and bone, and related mouse phenotypes are renal/urinary system and behavior/neurological.

Disease Ontology:11 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22.

UniProtKB/Swiss-Prot:70 Deafness, autosomal recessive, 4: 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. DFNB4 is associated with an enlarged vestibular aqueduct.

Related Diseases for Deafness, Autosomal Recessive 4, with Enlarged Vestibular...

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Diseases related to Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1pendred syndrome11.6
2pendred syndrome/dfnb411.4
3tinea corporis10.5FOXI1, SLC26A4
4non-hypoproteinemic hypertrophic gastropathy10.5GJB2, GJB3
5nonsyndromic hearing loss and deafness, mitochondrial10.5GJB2, GJB6
6myocardial infarction 210.4GJB2, GJB6
7thumb deformity, alopecia, pigmentation anomaly10.4GJB2, GJB6
8epiphyseal dysplasia, multiple, 410.4FOXI1, SLC26A4
9phosphorylase kinase deficiency10.4FOXI1, KCNJ10, SLC26A4
10troyer syndrome10.3GJB2, GJB6
11calabro syndrome10.3ATP6V0A4, ATP6V1B1
12ectodermal dysplasia 2, clouston type10.3GJB2, GJB6
13renier gabreels jasper syndrome10.3ATP6V0A4, ATP6V1B1
14spastic paraplegia 50, autosomal recessive10.3GJB2, GJB3
15sengers syndrome10.3ATP6V0A4, ATP6V1B1
16usher syndrome, type 1f10.3CDH23, GJB2
17syndactyly, type iii10.2GJB2, GJB3
18sensorineural hearing loss10.2
19noonan syndrome with multiple lentigines10.2GJB2, GJB3, GJB6
20deafness, autosomal dominant 3a10.2GJB2, GJB3, GJB6
21pseudohermaphrodism anorectal anomalies10.2GJB2, GJB3, GJB6
22punctate palmoplantar keratoderma type 210.2GJB2, GJB3, GJB6
23continuous spike-wave during slow sleep syndrome10.2GJB2, GJB3, GJB6
24erythrokeratodermia variabilis et progressiva10.2GJB2, GJB3, GJB6
25dementia, familial british10.2GJB2, GJB3, GJB6
26diabetes mellitus, 6q24-related transient neonatal10.2CDH23, GJB2
27central nervous system hemangioma10.2FOXI1, SLC26A4
28dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia10.2GJB2, GJB6
29small non-cleaved cell lymphoma10.1GJB2, GJB3, GJB6
30mondini dysplasia10.1
31autosomal genetic disease10.1ATP6V0A4, ATP6V1B1, SLC26A4
32otosclerosis10.0
33thyroiditis10.0
34sublingual gland cancer10.0GJB2, GJB3, GJB6, SLC26A4
35down syndrome9.9
36meningitis9.9
37cerebrospinal fluid leak9.9
38congenital cytomegalovirus9.9
39cytomegalovirus infection9.9
40head injury9.9
41vestibular neuronitis9.8ATP6V0A4, ATP6V1B1
42nonsyndromic hearing loss and deafness, autosomal recessive9.8GJB2, GJB3, GJB6, TRMU
43localized lichen myxedematosus with mixed features of different subtypes9.6CDH23, GJB2, GJB3, GJB6, SLC26A4
44autosomal recessive nonsyndromic deafness9.5CDH23, GJB2, GJB3, GJB6, SLC26A4
45endometritis9.4ATP6V1B1, DFNA5, GJB2, GJB6, SLC26A4
46self-healing papular mucinosis9.0DFNA5, GJB2, GJB3, GJB6, POU4F3
47pyelitis9.0ATP6V1B1, CDH23, FOXI1, GJB2, GJB3, GJB6
48hyperimmunoglobulin syndrome8.7ATP6V0A4, ATP6V1B1, CDH23, FOXI1, GJB2, GJB3
49dihydrolipoamide dehydrogenase deficiency6.3ATP6V0A4, ATP6V1B1, CDH23, DFNA5, FOXI1, GJB2

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct:



Diseases related to deafness, autosomal recessive 4, with enlarged vestibular aqueduct

Symptoms & Phenotypes for Deafness, Autosomal Recessive 4, with Enlarged Vestibular...

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Symptoms by clinical synopsis from OMIM:

600791

Clinical features from OMIM:

600791

Human phenotypes related to Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct:

 64
id Description HPO Frequency HPO Source Accession
1 incomplete partition of the cochlea type ii64 HP:0000376
2 sensorineural hearing impairment64 HP:0000407
3 enlarged vestibular aqueduct64 HP:0011387

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.9ATP6V0A4, ATP6V1B1, FOXI1, KCNJ10, SLC26A4
2MP:00053868.0ATP6V0A4, ATP6V1B1, CDH23, FOXI1, GJB6, KCNJ10
3MP:00036317.8CDH23, DFNA5, FOXI1, GJB2, GJB6, KCNJ10
4MP:00053767.4ATP6V0A4, ATP6V1B1, CDH23, FOXI1, GJB2, GJB3
5MP:00053777.1ATP6V0A4, ATP6V1B1, CDH23, DFNA5, FOXI1, GJB2

Drugs & Therapeutics for Deafness, Autosomal Recessive 4, with Enlarged Vestibular...

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Development and Clinical Application of Two New Genetic Deafness Gene Diagnostic KitRecruitingNCT02418936
2Clinical and Genetic Analysis of Enlarged Vestibular AqueductsRecruitingNCT00023036
3Enlarged Vestibular Aqueduct RegistryRecruitingNCT02798783

Search NIH Clinical Center for Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct

Genetic Tests for Deafness, Autosomal Recessive 4, with Enlarged Vestibular...

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Genetic tests related to Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct:

id Genetic test Affiliating Genes
1 Enlarged Vestibular Aqueduct Syndrome27
2 Enlarged Vestibular Aqueduct27

Anatomical Context for Deafness, Autosomal Recessive 4, with Enlarged Vestibular...

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MalaCards organs/tissues related to Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct:

36
Brain, Bone

Publications for Deafness, Autosomal Recessive 4, with Enlarged Vestibular...

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Variations for Deafness, Autosomal Recessive 4, with Enlarged Vestibular...

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UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct:

70 (show all 31)
id Symbol AA change Variation ID SNP ID
1SLC26A4p.Gly209ValVAR_007440rs111033303
2SLC26A4p.Leu236ProVAR_007441rs80338848
3SLC26A4p.Lys369GluVAR_007442rs121908361
4SLC26A4p.Ala372ValVAR_007443rs121908364
5SLC26A4p.Thr416ProVAR_007445rs28939086
6SLC26A4p.Gly497SerVAR_007446rs111033308
7SLC26A4p.Thr721MetVAR_007448rs121908363
8SLC26A4p.His723ArgVAR_007449rs121908362
9SLC26A4p.Leu445TrpVAR_011624rs111033307
10SLC26A4p.Ser28ArgVAR_021639rs539699299
11SLC26A4p.Ser90LeuVAR_021642rs370588279
12SLC26A4p.Leu117PheVAR_021647rs145254330
13SLC26A4p.Thr132IleVAR_021648
14SLC26A4p.Val239AspVAR_021653rs111033256
15SLC26A4p.Ser252ProVAR_021654
16SLC26A4p.Phe335LeuVAR_021656rs111033212
17SLC26A4p.Asn392TyrVAR_021658rs201562855
18SLC26A4p.Arg409ProVAR_021660rs111033305
19SLC26A4p.Thr410MetVAR_021661rs111033220
20SLC26A4p.Gln446ArgVAR_021665rs768471577
21SLC26A4p.Asn457LysVAR_021667
22SLC26A4p.Ile490LeuVAR_021669rs200511789
23SLC26A4p.Leu676GlnVAR_021678rs111033318
24SLC26A4p.Pro123SerVAR_027238
25SLC26A4p.Met147ValVAR_027239rs760413427
26SLC26A4p.Tyr530SerVAR_027242rs747636919
27SLC26A4p.Ser666PheVAR_027244
28SLC26A4p.Val402MetVAR_058580rs397516414
29SLC26A4p.Met775ThrVAR_058581
30SLC26A4p.Val281IleVAR_064992rs727505080
31SLC26A4p.Asn558LysVAR_064993

Clinvar genetic disease variations for Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct:

5 (show all 58)
id Gene Variation Type Significance SNP ID Assembly Location
1SLC26A4NM_000441.1(SLC26A4): c.765+3A> CSNVLikely pathogenicrs483353048GRCh37Chr 7, 107315557: 107315557
2SLC26A4NM_000441.1(SLC26A4): c.1554G> A (p.Trp518Ter)SNVPathogenicrs727503428GRCh37Chr 7, 107338496: 107338496
3SLC26A4NM_000441.1(SLC26A4): c.2089+1G> ASNVLikely pathogenic, Pathogenicrs727503430GRCh37Chr 7, 107344831: 107344831
4SLC26A4NM_000441.1(SLC26A4): c.2215C> T (p.Gln739Ter)SNVLikely pathogenic, Pathogenicrs727503431GRCh37Chr 7, 107350624: 107350624
5SLC26A4NM_000441.1(SLC26A4): c.1614+1G> CSNVPathogenicrs111033312GRCh37Chr 7, 107338557: 107338557
6SLC26A4NM_000441.1(SLC26A4): c.554G> C (p.Arg185Thr)SNVLikely pathogenic, Pathogenicrs542620119GRCh37Chr 7, 107314747: 107314747
7SLC26A4NM_000441.1(SLC26A4): c.1544+1G> ASNVLikely pathogenic, Pathogenicrs876657722GRCh38Chr 7, 107696040: 107696040
8SLC26A4NM_000441.1(SLC26A4): c.2171A> G (p.Asp724Gly)SNVPathogenicrs757820624GRCh37Chr 7, 107350580: 107350580
9SLC26A4NM_000441.1(SLC26A4): c.2224delA (p.Ile742Phefs)deletionPathogenicrs876657723GRCh38Chr 7, 107710188: 107710188
10SLC26A4NM_000441.1(SLC26A4): c.578C> T (p.Thr193Ile)SNV, CompoundHeterozygotePathogenicrs111033348GRCh37Chr 7, 107314771: 107314771
11SLC26A4NM_000441.1(SLC26A4): c.1222delT (p.Ser408Profs)deletionPathogenicrs886043058GRCh37Chr 7, 107330641: 107330641
12SLC26A4NM_000441.1(SLC26A4): c.-3-2A> GSNVPathogenicrs397516411GRCh37Chr 7, 107302082: 107302082
13SLC26A4NM_000441.1(SLC26A4): c.1149+3A> GSNVPathogenicrs111033314GRCh37Chr 7, 107329648: 107329648
14SLC26A4NM_000441.1(SLC26A4): c.1198delT (p.Cys400Valfs)deletionLikely pathogenic, Pathogenicrs397516413GRCh37Chr 7, 107330617: 107330617
15SLC26A4NM_000441.1(SLC26A4): c.1226G> A (p.Arg409His)SNVPathogenicrs111033305GRCh37Chr 7, 107330645: 107330645
16SLC26A4NM_000441.1(SLC26A4): c.1229C> T (p.Thr410Met)SNVPathogenicrs111033220GRCh37Chr 7, 107330648: 107330648
17SLC26A4NM_000441.1(SLC26A4): c.1264-1G> CSNVLikely pathogenic, Pathogenicrs111033311GRCh37Chr 7, 107334847: 107334847
18SLC26A4NM_000441.1(SLC26A4): c.1284_1286delTGC (p.Ala429del)deletionLikely pathogenic, Pathogenicrs111033306GRCh37Chr 7, 107334868: 107334870
19SLC26A4NM_000441.1(SLC26A4): c.1336C> T (p.Gln446Ter)SNVLikely pathogenic, Pathogenicrs397516416GRCh37Chr 7, 107334920: 107334920
20SLC26A4NM_000441.1(SLC26A4): c.1341+1delGdeletionPathogenicrs397516417GRCh37Chr 7, 107334926: 107334926
21SLC26A4NM_000441.1(SLC26A4): c.1342-2_1343dupAGTCduplicationPathogenicrs111033407GRCh37Chr 7, 107335064: 107335067
22SLC26A4NM_000441.1(SLC26A4): c.1437+2T> GSNVLikely pathogenic, Pathogenicrs397516418GRCh37Chr 7, 107335163: 107335163
23SLC26A4NM_000441.1(SLC26A4): c.1489G> A (p.Gly497Ser)SNVLikely pathogenic, Pathogenicrs111033308GRCh37Chr 7, 107336429: 107336429
24SLC26A4NM_000441.1(SLC26A4): c.1541A> G (p.Gln514Arg)SNVLikely pathogenic, Pathogenicrs111033316GRCh37Chr 7, 107336481: 107336481
25SLC26A4NM_000441.1(SLC26A4): c.1614+1G> ASNVPathogenicrs111033312GRCh37Chr 7, 107338557: 107338557
26SLC26A4NM_000441.1(SLC26A4): c.164+2T> CSNVPathogenicrs397516420GRCh37Chr 7, 107302252: 107302252
27SLC26A4NM_000441.1(SLC26A4): c.2015G> A (p.Gly672Glu)SNVPathogenicrs111033309GRCh37Chr 7, 107342483: 107342483
28SLC26A4NM_000441.1(SLC26A4): c.2027T> A (p.Leu676Gln)SNVLikely pathogenic, Pathogenicrs111033318GRCh37Chr 7, 107342495: 107342495
29SLC26A4NM_000441.1(SLC26A4): c.2188C> T (p.Gln730Ter)SNVPathogenicrs397516428GRCh37Chr 7, 107350597: 107350597
30SLC26A4NM_000441.1(SLC26A4): c.294_298delCACGC (p.Thr99Alafs)deletionLikely pathogenic, Pathogenicrs111033241GRCh37Chr 7, 107303870: 107303874
31SLC26A4NM_000441.1(SLC26A4): c.2T> C (p.Met1Thr)SNVPathogenicrs111033302GRCh37Chr 7, 107302088: 107302088
32SLC26A4NM_000441.1(SLC26A4): c.68C> A (p.Ser23Ter)SNVLikely pathogenic, Pathogenicrs397516430GRCh37Chr 7, 107302154: 107302154
33SLC26A4NM_000441.1(SLC26A4): c.716T> A (p.Val239Asp)SNVLikely pathogenic, Pathogenicrs111033256GRCh37Chr 7, 107315505: 107315505
34SLC26A4NM_000441.1(SLC26A4): c.765+2T> CSNVPathogenicrs397516432GRCh37Chr 7, 107315556: 107315556
35SLC26A4SLC26A4, 1-BP DEL, 917TdeletionPathogenicChr na, -1: -1
36SLC26A4NM_000441.1(SLC26A4): c.707T> C (p.Leu236Pro)SNVPathogenicrs80338848GRCh37Chr 7, 107315496: 107315496
37SLC26A4NM_000441.1(SLC26A4): c.1246A> C (p.Thr416Pro)SNVPathogenicrs28939086GRCh37Chr 7, 107330665: 107330665
38SLC26A4NM_000441.1(SLC26A4): c.1001+1G> ASNVPathogenicrs80338849GRCh37Chr 7, 107323983: 107323983
39SLC26A4NM_000441.1(SLC26A4): c.1151A> G (p.Glu384Gly)SNVPathogenicrs111033244GRCh37Chr 7, 107330570: 107330570
40SLC26A4NM_000441.1(SLC26A4): c.626G> T (p.Gly209Val)SNVPathogenicrs111033303GRCh37Chr 7, 107315415: 107315415
41SLC26A4NM_000441.1(SLC26A4): c.1105A> G (p.Lys369Glu)SNVPathogenicrs121908361GRCh37Chr 7, 107329601: 107329601
42SLC26A4NM_000441.1(SLC26A4): c.1115C> T (p.Ala372Val)SNVPathogenicrs121908364GRCh37Chr 7, 107329611: 107329611
43SLC26A4SLC26A4, 5-BP INS, NT2111insertionPathogenicChr na, -1: -1
44SLC26A4NM_000441.1(SLC26A4): c.2168A> G (p.His723Arg)SNVPathogenicrs121908362GRCh37Chr 7, 107350577: 107350577
45SLC26A4NM_000441.1(SLC26A4): c.2162C> T (p.Thr721Met)SNVLikely pathogenic, Pathogenicrs121908363GRCh37Chr 7, 107350571: 107350571
46SLC26A4NM_000441.1(SLC26A4): c.1334T> G (p.Leu445Trp)SNVPathogenicrs111033307GRCh37Chr 7, 107334918: 107334918
47SLC26A4NM_000441.1(SLC26A4): c.412G> T (p.Val138Phe)SNVPathogenicrs111033199GRCh37Chr 7, 107312690: 107312690
48SLC26A4NM_000441.1(SLC26A4): c.1588T> C (p.Tyr530His)SNVLikely pathogenic, Pathogenicrs111033254GRCh37Chr 7, 107338530: 107338530
49SLC26A4NM_000441.1(SLC26A4): c.-103T> CSNVPathogenicrs60284988GRCh37Chr 7, 107301201: 107301201
50SLC26A4NM_000441.1(SLC26A4): c.85G> C (p.Glu29Gln)SNVLikely pathogenic, Pathogenicrs111033205GRCh37Chr 7, 107302171: 107302171
51SLC26A4NM_000441.1(SLC26A4): c.919-2A> GSNVPathogenicrs111033313GRCh37Chr 7, 107323898: 107323898
52SLC26A4NM_000441.1(SLC26A4): c.1540C> A (p.Gln514Lys)SNVPathogenicrs121908366GRCh37Chr 7, 107336480: 107336480
53SLC26A4NM_000441.1(SLC26A4): c.1003T> C (p.Phe335Leu)SNVLikely pathogenic, Pathogenicrs111033212GRCh37Chr 7, 107329499: 107329499
54KCNJ10NM_002241.4(KCNJ10): c.581C> A (p.Pro194His)SNVPathogenicrs137853073GRCh37Chr 1, 160011742: 160011742
55KCNJ10NM_002241.4(KCNJ10): c.1042C> T (p.Arg348Cys)SNVPathogenicrs137853074GRCh37Chr 1, 160011281: 160011281
56FOXI1NM_012188.4(FOXI1): c.773G> A (p.Gly258Glu)SNVPathogenicrs121909340GRCh37Chr 5, 169535251: 169535251
57FOXI1NM_012188.4(FOXI1): c.800G> A (p.Arg267Gln)SNVPathogenicrs121909341GRCh37Chr 5, 169535278: 169535278
58SLC26A4NM_000441.1(SLC26A4): c.997dupA (p.Arg333Lysfs)duplicationPathogenicrs431905486GRCh37Chr 7, 107323978: 107323978

Expression for genes affiliated with Deafness, Autosomal Recessive 4, with Enlarged Vestibular...

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Search GEO for disease gene expression data for Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct.

Pathways for genes affiliated with Deafness, Autosomal Recessive 4, with Enlarged Vestibular...

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Pathways related to Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5GJB2, GJB3, GJB6
2
Show member pathways
9.5GJB2, GJB3, GJB6

GO Terms for genes affiliated with Deafness, Autosomal Recessive 4, with Enlarged Vestibular...

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Cellular components related to Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1connexin complexGO:000592210.0GJB2, GJB3, GJB6
2gap junctionGO:00059219.8GJB2, GJB3, GJB6
3vacuolar proton-transporting V-type ATPase complexGO:00164719.7ATP6V0A4, ATP6V1B1
4apical plasma membraneGO:00163249.6ATP6V0A4, ATP6V1B1, GJB6, SLC26A4

Biological processes related to Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1cell communicationGO:000715410.5GJB3, GJB6
2ATP hydrolysis coupled proton transportGO:001599110.4ATP6V0A4, ATP6V1B1
3excretionGO:000758810.3ATP6V0A4, ATP6V1B1
4phagosome acidificationGO:009038310.3ATP6V0A4, ATP6V1B1
5transferrin transportGO:003357210.3ATP6V0A4, ATP6V1B1
6regulation of pHGO:000688510.1ATP6V0A4, ATP6V1B1, SLC26A4
7inner ear receptor cell differentiationGO:00601139.7DFNA5, POU4F3
8inner ear morphogenesisGO:00424729.6ATP6V1B1, FOXI1, POU4F3
9visual perceptionGO:00076018.8CDH23, KCNJ10, POU4F3
10sensory perception of soundGO:00076057.1ATP6V0A4, ATP6V1B1, CDH23, DFNA5, GJB2, GJB3

Molecular functions related to Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:00052439.9GJB2, GJB3

Sources for Deafness, Autosomal Recessive 4, with Enlarged Vestibular...

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet