MCID: DFN245
MIFTS: 48

Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct malady

Genetic diseases, Rare diseases, Ear diseases, Neuronal diseases categories

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 49 11
Enlarged Vestibular Aqueduct 49 10 12 65 67
Enlarged Vestibular Aqueduct Syndrome 45 47 24
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4 67
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4 67
Neurosensory Nonsyndromic Recessive Deafness 4 67
Deafness Neurosensory Autosomal Recessive 4 67
 
Enlarged Vestibular Aqueduct, Digenic 49
Large Vestibular Aqueduct Syndrome 45
Deafness, Autosomal Recessive, 4 67
Nsrd4 67
Dfnb4 67
Eva 67


Classifications:



External Ids:

OMIM49 600791
Disease Ontology10 DOID:0050332
MedGen34 C1863752
MeSH36 D006319

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

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OMIM:49 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 sensorineural hearing loss, and has symptoms including autosomal recessive inheritance, incomplete partition of the cochlea type ii and sensorineural hearing impairment. An important gene associated with Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct is SLC26A4 (Solute Carrier Family 26 (Anion Exchanger), Member 4), and among its related pathways is Gap junction trafficking. Affiliated tissues include brain and bone, and related mouse phenotypes are homeostasis/metabolism and behavior/neurological.

UniProtKB/Swiss-Prot:67 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 top 50)    (show all 88)
idRelated DiseaseScoreTop Affiliating Genes
1pendred syndrome31.1FOXI1, GJB2, KCNJ10, MPZL2, SLC26A4
2sensorineural hearing loss10.7
3mondini dysplasia10.5
4otosclerosis10.4
5thyroiditis10.4
6pendred syndrome/dfnb410.4
7cytomegalovirus infection10.4
8hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia10.3
9short syndrome10.3
10image syndrome10.3
11child syndrome10.3
12speech and communication disorders10.3
13thyroid malformation10.3
14auditory system disease10.3
15hypothyroidism10.3
16inner ear disease10.3
17labyrinthine disease10.3
18meningitis10.3
19nonsyndromic deafness10.3
20thyroid gland disease10.3
21vestibular disease10.3
22hearing disorders and deafness10.3
23hearing problems in children10.3
24deafness and hereditary hearing loss10.3
25congenital cytomegalovirus10.3
26cytomegalic inclusion disease10.3
27familial deafness10.3
28kid syndrome10.3
29nonsyndromic hereditary sensorineural hearing loss10.3
30hearing loss/deafness10.3
31nonsyndromic hearing loss and deafness10.3
32head injury10.3
33radial nerve lesion10.3FOXI1, SLC26A4
34lethal encephalopathy due to mitochondrial and peroxisomal fission defect10.2GJB2, GJB3
35nonsyndromic hearing loss and deafness, dfnb110.2GJB2, GJB6
36achondrogenesis ib10.2FOXI1, SLC26A4
37congenital deafness with vitiligo and achalasia10.2GJB2, GJB6
38peroxisome biogenesis disorders, zellweger syndrome spectrum10.2FOXI1, KCNJ10, SLC26A4
39ectodermal dysplasia 2, clouston type10.2GJB2, GJB6
40osteoporosis10.2
41bone fracture10.2
42bart-pumphrey syndrome10.2GJB2, GJB6
43walker-warburg syndrome10.1GJB2, GJB3
44renal tubular acidosis, distal, autosomal recessive10.1ATP6V0A4, ATP6V1B1
45renal tubular acidosis, distal, type 310.1ATP6V0A4, ATP6V1B1
46dense deposit disease/membranoproliferative glomerulonephritis type ii10.1CDH23, FOXI1
47nonsyndromic hearing loss and deafness, mitochondrial10.1GJB2, GJB3, GJB6
48deafness, autosomal recessive 1a10.1GJB2, GJB3, GJB6
49palmoplantar keratoderma, nonepidermolytic10.1GJB2, GJB3
50pseudoaminopterin syndrome10.1GJB2, GJB3, GJB6

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

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Symptoms by clinical synopsis from OMIM:

600791

Clinical features from OMIM:

600791

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

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 incomplete partition of the cochlea type ii HP:0000376
3 sensorineural hearing impairment HP:0000407
4 enlarged vestibular aqueduct HP:0011387

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

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 Syndrome24

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:

33
Brain, Bone

Animal Models for Deafness, Autosomal Recessive 4, with Enlarged Vestibular... or affiliated genes

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MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.4ATP6V0A4, ATP6V1B1, CDH23, FOXI1, GJB2, GJB3
2MP:00053867.4ATP6V0A4, ATP6V1B1, CDH23, FOXI1, GJB6, KCNJ10
3MP:00036317.1CDH23, DFNA5, FOXI1, GJB2, GJB6, KCNJ10
4MP:00053776.9ATP6V0A4, ATP6V1B1, CDH23, DFNA5, FOXI1, GJB2

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:

67 (show all 32)
id Symbol AA change Variation ID SNP ID
1SLC26A4p.Gly209ValVAR_007440
2SLC26A4p.Leu236ProVAR_007441
3SLC26A4p.Lys369GluVAR_007442
4SLC26A4p.Ala372ValVAR_007443
5SLC26A4p.Thr416ProVAR_007445rs28939086
6SLC26A4p.Gly497SerVAR_007446
7SLC26A4p.Thr721MetVAR_007448
8SLC26A4p.His723ArgVAR_007449rs121908362
9SLC26A4p.Leu445TrpVAR_011624
10SLC26A4p.Ser28ArgVAR_021639
11SLC26A4p.Ser90LeuVAR_021642
12SLC26A4p.Leu117PheVAR_021647rs145254330
13SLC26A4p.Thr132IleVAR_021648
14SLC26A4p.Val239AspVAR_021653
15SLC26A4p.Ser252ProVAR_021654
16SLC26A4p.Phe335LeuVAR_021656rs111033212
17SLC26A4p.Asn392TyrVAR_021658rs201562855
18SLC26A4p.Arg409ProVAR_021660
19SLC26A4p.Thr410MetVAR_021661
20SLC26A4p.Gln446ArgVAR_021665
21SLC26A4p.Ile455PheVAR_021666
22SLC26A4p.Asn457LysVAR_021667
23SLC26A4p.Ile490LeuVAR_021669
24SLC26A4p.Leu676GlnVAR_021678
25SLC26A4p.Pro123SerVAR_027238
26SLC26A4p.Met147ValVAR_027239
27SLC26A4p.Tyr530SerVAR_027242
28SLC26A4p.Ser666PheVAR_027244
29SLC26A4p.Val402MetVAR_058580
30SLC26A4p.Met775ThrVAR_058581
31SLC26A4p.Val281IleVAR_064992
32SLC26A4p.Asn558LysVAR_064993

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

5 (show all 69)
id Gene Variation Type Significance SNP ID Assembly Location
1SLC26A4NM_000441.1(SLC26A4): c.765+3A> Csingle nucleotide variantLikely pathogenicrs483353048GRCh37Chr 7, 107315557: 107315557
2NM_000441.1(SLC26A4): c.-4+5G> Asingle nucleotide variantLikely pathogenicrs727503425GRCh37Chr 7, 107301305: 107301305
3SLC26A4NM_000441.1(SLC26A4): c.1554G> A (p.Trp518Ter)single nucleotide variantPathogenicrs727503428GRCh37Chr 7, 107338496: 107338496
4SLC26A4NM_000441.1(SLC26A4): c.2089+1G> Asingle nucleotide variantPathogenicrs727503430GRCh37Chr 7, 107344831: 107344831
5SLC26A4NM_000441.1(SLC26A4): c.2215C> T (p.Gln739Ter)single nucleotide variantPathogenicrs727503431GRCh37Chr 7, 107350624: 107350624
6SLC26A4NM_000441.1(SLC26A4): c.1468A> C (p.Ile490Leu)single nucleotide variantPathogenicrs200511789GRCh37Chr 7, 107336408: 107336408
7SLC26A4NM_000441.1(SLC26A4): c.1614+1G> Csingle nucleotide variantPathogenicrs111033312GRCh37Chr 7, 107338557: 107338557
8SLC26A4NM_000441.1(SLC26A4): c.1707+6T> Csingle nucleotide variantLikely pathogenicrs727505230GRCh37Chr 7, 107340626: 107340626
9NM_000441.1(SLC26A4): c.-3-2A> Gsingle nucleotide variantPathogenicrs397516411GRCh37Chr 7, 107302082: 107302082
10SLC26A4NM_000441.1(SLC26A4): c.1149+3A> Gsingle nucleotide variantPathogenicrs111033314GRCh37Chr 7, 107329648: 107329648
11SLC26A4NM_000441.1(SLC26A4): c.1198delT (p.Cys400Valfs)deletionLikely pathogenic, Pathogenicrs397516413GRCh37Chr 7, 107330617: 107330617
12SLC26A4NM_000441.1(SLC26A4): c.1204G> A (p.Val402Met)single nucleotide variantLikely pathogenicrs397516414GRCh37Chr 7, 107330623: 107330623
13SLC26A4NM_000441.1(SLC26A4): c.1226G> A (p.Arg409His)single nucleotide variantPathogenicrs111033305GRCh37Chr 7, 107330645: 107330645
14SLC26A4NM_000441.1(SLC26A4): c.1226G> C (p.Arg409Pro)single nucleotide variantLikely pathogenicrs111033305GRCh37Chr 7, 107330645: 107330645
15SLC26A4NM_000441.1(SLC26A4): c.1229C> T (p.Thr410Met)single nucleotide variantPathogenicrs111033220GRCh37Chr 7, 107330648: 107330648
16SLC26A4NM_000441.1(SLC26A4): c.1264-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs111033311GRCh37Chr 7, 107334847: 107334847
17SLC26A4NM_000441.1(SLC26A4): c.1284_1286delTGC (p.Ala429del)deletionLikely pathogenicrs111033306GRCh37Chr 7, 107334868: 107334870
18SLC26A4NM_000441.1(SLC26A4): c.1336C> T (p.Gln446Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397516416GRCh37Chr 7, 107334920: 107334920
19SLC26A4NM_000441.1(SLC26A4): c.1341+1delGdeletionPathogenicrs397516417GRCh37Chr 7, 107334926: 107334926
20SLC26A4NM_000441.1(SLC26A4): c.1342-2_1343dupAGTCduplicationPathogenicrs111033407GRCh37Chr 7, 107335064: 107335067
21SLC26A4NM_000441.1(SLC26A4): c.1437+2T> Gsingle nucleotide variantPathogenicrs397516418GRCh37Chr 7, 107335163: 107335163
22SLC26A4NM_000441.1(SLC26A4): c.1489G> A (p.Gly497Ser)single nucleotide variantLikely pathogenic, Pathogenicrs111033308GRCh37Chr 7, 107336429: 107336429
23SLC26A4NM_000441.1(SLC26A4): c.1541A> G (p.Gln514Arg)single nucleotide variantLikely pathogenicrs111033316GRCh37Chr 7, 107336481: 107336481
24SLC26A4NM_000441.1(SLC26A4): c.1548_1549insC (p.Ser517Leufs)insertionLikely pathogenicrs111033317GRCh37Chr 7, 107338490: 107338491
25SLC26A4NM_000441.1(SLC26A4): c.1614+1G> Asingle nucleotide variantPathogenicrs111033312GRCh37Chr 7, 107338557: 107338557
26SLC26A4NM_000441.1(SLC26A4): c.164+2T> Csingle nucleotide variantPathogenicrs397516420GRCh37Chr 7, 107302252: 107302252
27SLC26A4NM_000441.1(SLC26A4): c.1694G> A (p.Cys565Tyr)single nucleotide variantLikely pathogenicrs111033257GRCh37Chr 7, 107340607: 107340607
28SLC26A4NM_000441.1(SLC26A4): c.170C> G (p.Ser57Ter)single nucleotide variantLikely pathogenicrs111033200GRCh37Chr 7, 107303746: 107303746
29SLC26A4NM_000441.1(SLC26A4): c.1963A> G (p.Ile655Val)single nucleotide variantLikely pathogenicrs397516424GRCh37Chr 7, 107342431: 107342431
30SLC26A4NM_000441.1(SLC26A4): c.2015G> A (p.Gly672Glu)single nucleotide variantPathogenicrs111033309GRCh37Chr 7, 107342483: 107342483
31SLC26A4NM_000441.1(SLC26A4): c.2027T> A (p.Leu676Gln)single nucleotide variantLikely pathogenic, Pathogenicrs111033318GRCh37Chr 7, 107342495: 107342495
32SLC26A4NM_000441.1(SLC26A4): c.2145G> T (p.Lys715Asn)single nucleotide variantLikely pathogenicrs397516427GRCh37Chr 7, 107350554: 107350554
33SLC26A4NM_000441.1(SLC26A4): c.2188C> T (p.Gln730Ter)single nucleotide variantPathogenicrs397516428GRCh37Chr 7, 107350597: 107350597
34SLC26A4NM_000441.1(SLC26A4): c.294_298delCACGC (p.Thr99Alafs)deletionLikely pathogenicrs111033241GRCh37Chr 7, 107303870: 107303874
35NM_000441.1(SLC26A4): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs111033302GRCh37Chr 7, 107302088: 107302088
36SLC26A4NM_000441.1(SLC26A4): c.397_398delTCinsA (p.Ser133Lysfs)indelLikely pathogenicrs111033400GRCh37Chr 7, 107312675: 107312676
37SLC26A4NM_000441.1(SLC26A4): c.589G> A (p.Gly197Arg)single nucleotide variantLikely pathogenicrs111033380GRCh37Chr 7, 107314782: 107314782
38NM_000441.1(SLC26A4): c.68C> A (p.Ser23Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397516430GRCh37Chr 7, 107302154: 107302154
39SLC26A4NM_000441.1(SLC26A4): c.716T> A (p.Val239Asp)single nucleotide variantLikely pathogenic, Pathogenicrs111033256GRCh37Chr 7, 107315505: 107315505
40SLC26A4NM_000441.1(SLC26A4): c.765+2T> Csingle nucleotide variantPathogenicrs397516432GRCh37Chr 7, 107315556: 107315556
41SLC26A4NM_000441.1(SLC26A4): c.845G> A (p.Cys282Tyr)single nucleotide variantLikely pathogenicrs111033454GRCh37Chr 7, 107323726: 107323726
42NM_000441.1(SLC26A4): c.85G> T (p.Glu29Ter)single nucleotide variantLikely pathogenicrs111033205GRCh37Chr 7, 107302171: 107302171
43SLC26A4NM_000441.1(SLC26A4): c.918+1G> Tsingle nucleotide variantLikely pathogenicrs111033245GRCh37Chr 7, 107323800: 107323800
44SLC26A4SLC26A4, 1-BP DEL, 917TdeletionPathogenic
45SLC26A4NM_000441.1(SLC26A4): c.1489G> A (p.Gly497Ser)single nucleotide variantLikely pathogenic, Pathogenicrs111033308GRCh37Chr 7, 107336429: 107336429
46SLC26A4NM_000441.1(SLC26A4): c.707T> C (p.Leu236Pro)single nucleotide variantPathogenicrs80338848GRCh37Chr 7, 107315496: 107315496
47SLC26A4NM_000441.1(SLC26A4): c.1246A> C (p.Thr416Pro)single nucleotide variantPathogenicrs28939086GRCh37Chr 7, 107330665: 107330665
48SLC26A4NM_000441.1(SLC26A4): c.1001+1G> Asingle nucleotide variantPathogenicrs80338849GRCh37Chr 7, 107323983: 107323983
49SLC26A4NM_000441.1(SLC26A4): c.1151A> G (p.Glu384Gly)single nucleotide variantPathogenicrs111033244GRCh37Chr 7, 107330570: 107330570
50SLC26A4NM_000441.1(SLC26A4): c.626G> T (p.Gly209Val)single nucleotide variantPathogenicrs111033303GRCh37Chr 7, 107315415: 107315415
51SLC26A4NM_000441.1(SLC26A4): c.1105A> G (p.Lys369Glu)single nucleotide variantPathogenicrs121908361GRCh37Chr 7, 107329601: 107329601
52SLC26A4NM_000441.1(SLC26A4): c.1115C> T (p.Ala372Val)single nucleotide variantPathogenicrs121908364GRCh37Chr 7, 107329611: 107329611
53SLC26A4SLC26A4, 5-BP INS, NT2111insertionPathogenic
54SLC26A4NM_000441.1(SLC26A4): c.2168A> G (p.His723Arg)single nucleotide variantPathogenicrs121908362GRCh37Chr 7, 107350577: 107350577
55SLC26A4NM_000441.1(SLC26A4): c.2162C> T (p.Thr721Met)single nucleotide variantLikely pathogenic, Pathogenicrs121908363GRCh37Chr 7, 107350571: 107350571
56SLC26A4NM_000441.1(SLC26A4): c.1334T> G (p.Leu445Trp)single nucleotide variantPathogenicrs111033307GRCh37Chr 7, 107334918: 107334918
57SLC26A4NM_000441.1(SLC26A4): c.578C> T (p.Thr193Ile)single nucleotide variantPathogenicrs111033348GRCh37Chr 7, 107314771: 107314771
58SLC26A4NM_000441.1(SLC26A4): c.412G> T (p.Val138Phe)single nucleotide variantPathogenicrs111033199GRCh37Chr 7, 107312690: 107312690
59SLC26A4NM_000441.1(SLC26A4): c.1588T> C (p.Tyr530His)single nucleotide variantLikely pathogenic, Pathogenicrs111033254GRCh37Chr 7, 107338530: 107338530
60NM_000441.1(SLC26A4): c.-103T> Csingle nucleotide variantLikely pathogenic, Pathogenicrs60284988GRCh37Chr 7, 107301201: 107301201
61NM_000441.1(SLC26A4): c.85G> C (p.Glu29Gln)single nucleotide variantLikely pathogenic, Pathogenicrs111033205GRCh37Chr 7, 107302171: 107302171
62SLC26A4NM_000441.1(SLC26A4): c.919-2A> Gsingle nucleotide variantPathogenicrs111033313GRCh37Chr 7, 107323898: 107323898
63SLC26A4NM_000441.1(SLC26A4): c.1540C> A (p.Gln514Lys)single nucleotide variantPathogenicrs121908366GRCh37Chr 7, 107336480: 107336480
64SLC26A4NM_000441.1(SLC26A4): c.1003T> C (p.Phe335Leu)single nucleotide variantLikely pathogenic, Pathogenicrs111033212GRCh37Chr 7, 107329499: 107329499
65KCNJ10NM_002241.4(KCNJ10): c.581C> A (p.Pro194His)single nucleotide variantPathogenicrs137853073GRCh37Chr 1, 160011742: 160011742
66KCNJ10NM_002241.4(KCNJ10): c.1042C> T (p.Arg348Cys)single nucleotide variantPathogenicrs137853074GRCh37Chr 1, 160011281: 160011281
67FOXI1NM_012188.4(FOXI1): c.773G> A (p.Gly258Glu)single nucleotide variantPathogenicrs121909340GRCh37Chr 5, 169535251: 169535251
68FOXI1NM_012188.4(FOXI1): c.800G> A (p.Arg267Gln)single nucleotide variantPathogenicrs121909341GRCh37Chr 5, 169535278: 169535278
69SLC26A4NM_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 pathways (with members indented)ScoreTop Affiliating Genes
1
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
1vacuolar proton-transporting V-type ATPase complexGO:001647110.0ATP6V0A4, ATP6V1B1
2connexon complexGO:000592210.0GJB2, GJB3, GJB6
3gap junctionGO:00059219.6GJB2, GJB3, GJB6
4stereociliumGO:00324209.4CDH23, MYO15A
5apical plasma membraneGO:00163248.5ATP6V0A4, ATP6V1B1, GJB6, KCNJ10, 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
1ATP hydrolysis coupled proton transportGO:001599110.1ATP6V0A4, ATP6V1B1
2transferrin transportGO:003357210.1ATP6V0A4, ATP6V1B1
3excretionGO:000758810.0ATP6V0A4, ATP6V1B1
4cell communicationGO:00071549.9GJB2, GJB3, GJB6
5interaction with hostGO:00517019.9ATP6V0A4, ATP6V1B1
6phagosome maturationGO:00903829.9ATP6V0A4, ATP6V1B1
7regulation of pHGO:00068859.8ATP6V0A4, ATP6V1B1, SLC26A4
8inner ear morphogenesisGO:00424729.3ATP6V1B1, FOXI1, MYO15A
9transmembrane transportGO:00550859.0ATP6V0A4, ATP6V1B1, GJB2, GJB3, SLC26A4
10sensory perception of soundGO:00076056.5ATP6V0A4, 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:000524310.1GJB2, GJB3
2hydrogen ion transmembrane transporter activityGO:00150789.7ATP6V0A4, ATP6V1B1

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

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet