DFNB4
MCID: DFN245
MIFTS: 46

Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct (DFNB4) malady

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

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

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

Name: Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct 54 13 69
Enlarged Vestibular Aqueduct 54 12 66 14
Enlarged Vestibular Aqueduct Syndrome 50 29 52
Dfnb4 12 66 52
Autosomal Recessive Nonsyndromic Deafness 4 12 14
Autosomal Recessive Deafness 4 with Enlarged Vestibular Aqueduct 12
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4 66
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4 66
Neurosensory Nonsyndromic Recessive Deafness 4 66
Deafness Neurosensory Autosomal Recessive 4 66
Enlarged Vestibular Aqueduct, Digenic 54
Large Vestibular Aqueduct Syndrome 50
Deafness, Autosomal Recessive, 4 66
Nsrd4 66
Eva 66

Characteristics:

HPO:

32
deafness, autosomal recessive 4, with enlarged vestibular aqueduct:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 600791
Disease Ontology 12 DOID:0050332 DOID:0110498
ICD10 33 H90.3
MedGen 40 C1863752
MeSH 42 D006319

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

OMIM : 54 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 sensorineural hearing impairment, enlarged vestibular aqueduct and incomplete partition of the cochlea type ii. 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/superpathways is Gap junction trafficking. Affiliated tissues include bone and brain, and related phenotypes are behavior/neurological and hearing/vestibular/ear

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22.

UniProtKB/Swiss-Prot : 66 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...

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 70)
id Related Disease Score Top Affiliating Genes
1 pendred syndrome 11.6
2 pendred syndrome/dfnb4 11.4
3 dnase1-related susceptibility to systemic lupus erythematosus 10.3 GJB2 GJB6
4 down syndrome-related congenital heart disease 10.3 GJB2 GJB6
5 spastic ataxia, charlevoix-saguenay type 10.3 GJB2 GJB6
6 pik3ca-related segmental overgrowth 10.3 GJB2 GJB6
7 bietti crystalline corneoretinal dystrophy 10.3 GJB2 GJB6
8 sturge-weber syndrome, somatic, mosaic 10.3 GJB2 SLC26A4
9 hereditary thrombocytosis with transverse limb defect 10.3 GJB2 GJB3
10 sensorineural hearing loss 10.3
11 prothrombin-related thrombophilia 10.2 FOXI1 KCNJ10 SLC26A4
12 ectodermal dysplasia 2, clouston type 10.2 GJB2 GJB6
13 troyer syndrome 10.2 GJB2 GJB6
14 congenital herpes simplex 10.2 GJB2 GJB6
15 efemp2-related cutis laxa 10.2 CDH23 GJB2
16 charcot-marie-tooth disease, type 1d 10.2 CDH23 GJB2 SLC26A4
17 meigel disease 10.2 ATP6V0A4 ATP6V1B1
18 omenn syndrome 10.2 GJB2 SLC26A4
19 cataract 38, autosomal recessive 10.2 ATP6V0A4 ATP6V1B1
20 deafness, autosomal recessive 23 10.2 CDH23 GJB2 SLC26A4
21 ehlers-danlos syndrome, type viib 10.2 GJB2 GJB3
22 pink1 type of young-onset parkinson disease 10.2 GJB2 GJB3 GJB6
23 keratoderma, palmoplantar, with deafness 10.2 GJB2 GJB3 GJB6
24 klumpke paralysis 10.2 GJB2 GJB3 GJB6
25 retinal cone dystrophy 1 10.2 ATP6V0A4 ATP6V1B1
26 pseudomyotonia 10.2 GJB2 GJB3 GJB6
27 erythrokeratodermia variabilis et progressiva 10.2 GJB2 GJB3 GJB6
28 dementia, familial british 10.2 GJB2 GJB3 GJB6
29 leprosy 4 10.2 GJB2 GJB3
30 echinostomiasis 10.1 FOXI1 SLC26A2 SLC26A4
31 treacher collins syndrome 1 10.1 FOXI1 SLC26A2 SLC26A4
32 mondini dysplasia 10.1
33 deafness, autosomal dominant 2a 10.1 GJB2 GJB6
34 molluscum contagiosum 10.1 GJB2 GJB3 GJB6 SLC26A4
35 solitary bone cyst 10.1 GJB2 GJB3 GJB6
36 laryngitis 10.1 FOXI1 POU4F3 SLC26A4
37 pigmented nodular adrenocortical disease, primary, 2 10.1 GJB2 OTOF
38 cervical adenofibroma 10.1 FOXI1 SLC26A4
39 hirschsprung disease 2 10.1 GJB2 OTOF
40 osteogenesis imperfecta, type x 10.1 DFNA5 POU4F3
41 xanthinuria, type i 10.1 GJB2 OTOF
42 otosclerosis 10.0
43 thyroiditis 10.0
44 orofacial cleft 10.0 GJB2 POU4F3
45 manitoba oculotrichoanal syndrome 10.0 CDH23 OTOF SLC26A4
46 sjogren-larsson syndrome 10.0 CDH23 OTOF SLC26A4
47 autosomal dominant nonsyndromic deafness 68 10.0 DFNA5 SLC26A2
48 autoimmune gastrointestinal dysmotility 10.0 GJB2 GJB6 OTOF
49 qazi markouizos syndrome 9.9 ATP6V0A4 ATP6V1B1 SLC26A2 SLC26A4
50 dihydrolipoamide dehydrogenase deficiency 9.9 FOXI1 GJB2 KCNJ10 SLC26A2 SLC26A4

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...

Symptoms by clinical synopsis from OMIM:

600791

Clinical features from OMIM:

600791

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

32
id Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 enlarged vestibular aqueduct 32 HP:0011387
3 incomplete partition of the cochlea type ii 32 HP:0000376

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 FOXI1 GJB6 KCNJ10 OTOF POU4F3 SLC26A4
2 hearing/vestibular/ear MP:0005377 9.9 ATP6V0A4 ATP6V1B1 CDH23 DFNA5 FOXI1 GJB2
3 homeostasis/metabolism MP:0005376 9.65 ATP6V0A4 ATP6V1B1 CDH23 FOXI1 GJB2 GJB3
4 nervous system MP:0003631 9.28 CDH23 DFNA5 FOXI1 GJB2 GJB6 KCNJ10

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

Interventional clinical trials:


id Name Status NCT ID Phase
1 Development and Clinical Application of Two New Genetic Deafness Gene Diagnostic Kit Recruiting NCT02418936
2 Clinical and Genetic Analysis of Enlarged Vestibular Aqueducts Recruiting NCT00023036
3 Enlarged Vestibular Aqueduct Registry Recruiting NCT02798783

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

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

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

id Genetic test Affiliating Genes
1 Enlarged Vestibular Aqueduct Syndrome 29
2 Enlarged Vestibular Aqueduct 29

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

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

39
Bone, Brain

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

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

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

66 (show all 31)
id Symbol AA change Variation ID SNP ID
1 SLC26A4 p.Gly209Val VAR_007440 rs111033303
2 SLC26A4 p.Leu236Pro VAR_007441 rs80338848
3 SLC26A4 p.Lys369Glu VAR_007442 rs121908361
4 SLC26A4 p.Ala372Val VAR_007443 rs121908364
5 SLC26A4 p.Thr416Pro VAR_007445 rs28939086
6 SLC26A4 p.Gly497Ser VAR_007446 rs111033308
7 SLC26A4 p.Thr721Met VAR_007448 rs121908363
8 SLC26A4 p.His723Arg VAR_007449 rs121908362
9 SLC26A4 p.Leu445Trp VAR_011624 rs111033307
10 SLC26A4 p.Ser28Arg VAR_021639 rs539699299
11 SLC26A4 p.Ser90Leu VAR_021642 rs370588279
12 SLC26A4 p.Leu117Phe VAR_021647 rs145254330
13 SLC26A4 p.Thr132Ile VAR_021648
14 SLC26A4 p.Val239Asp VAR_021653 rs111033256
15 SLC26A4 p.Ser252Pro VAR_021654
16 SLC26A4 p.Phe335Leu VAR_021656 rs111033212
17 SLC26A4 p.Asn392Tyr VAR_021658 rs201562855
18 SLC26A4 p.Arg409Pro VAR_021660 rs111033305
19 SLC26A4 p.Thr410Met VAR_021661 rs111033220
20 SLC26A4 p.Gln446Arg VAR_021665 rs768471577
21 SLC26A4 p.Asn457Lys VAR_021667
22 SLC26A4 p.Ile490Leu VAR_021669 rs200511789
23 SLC26A4 p.Leu676Gln VAR_021678 rs111033318
24 SLC26A4 p.Pro123Ser VAR_027238
25 SLC26A4 p.Met147Val VAR_027239 rs760413427
26 SLC26A4 p.Tyr530Ser VAR_027242 rs747636919
27 SLC26A4 p.Ser666Phe VAR_027244
28 SLC26A4 p.Val402Met VAR_058580 rs397516414
29 SLC26A4 p.Met775Thr VAR_058581
30 SLC26A4 p.Val281Ile VAR_064992 rs727505080
31 SLC26A4 p.Asn558Lys VAR_064993

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

6 (show top 50) (show all 68)
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC26A4 SLC26A4, 1-BP DEL, 917T deletion Pathogenic
2 SLC26A4 NM_000441.1(SLC26A4): c.1489G> A (p.Gly497Ser) single nucleotide variant Pathogenic/Likely pathogenic rs111033308 GRCh37 Chromosome 7, 107336429: 107336429
3 SLC26A4 NM_000441.1(SLC26A4): c.707T> C (p.Leu236Pro) single nucleotide variant Pathogenic rs80338848 GRCh37 Chromosome 7, 107315496: 107315496
4 SLC26A4 NM_000441.1(SLC26A4): c.1246A> C (p.Thr416Pro) single nucleotide variant Pathogenic rs28939086 GRCh37 Chromosome 7, 107330665: 107330665
5 SLC26A4 NM_000441.1(SLC26A4): c.1001+1G> A single nucleotide variant Pathogenic rs80338849 GRCh37 Chromosome 7, 107323983: 107323983
6 SLC26A4 NM_000441.1(SLC26A4): c.1151A> G (p.Glu384Gly) single nucleotide variant Pathogenic rs111033244 GRCh37 Chromosome 7, 107330570: 107330570
7 SLC26A4 NM_000441.1(SLC26A4): c.626G> T (p.Gly209Val) single nucleotide variant Pathogenic rs111033303 GRCh37 Chromosome 7, 107315415: 107315415
8 SLC26A4 NM_000441.1(SLC26A4): c.1105A> G (p.Lys369Glu) single nucleotide variant Pathogenic rs121908361 GRCh37 Chromosome 7, 107329601: 107329601
9 SLC26A4 NM_000441.1(SLC26A4): c.1115C> T (p.Ala372Val) single nucleotide variant Pathogenic rs121908364 GRCh37 Chromosome 7, 107329611: 107329611
10 SLC26A4 SLC26A4, 5-BP INS, NT2111 insertion Pathogenic
11 SLC26A4 NM_000441.1(SLC26A4): c.2168A> G (p.His723Arg) single nucleotide variant Pathogenic rs121908362 GRCh37 Chromosome 7, 107350577: 107350577
12 SLC26A4 NM_000441.1(SLC26A4): c.2162C> T (p.Thr721Met) single nucleotide variant Pathogenic/Likely pathogenic rs121908363 GRCh37 Chromosome 7, 107350571: 107350571
13 SLC26A4 NM_000441.1(SLC26A4): c.1334T> G (p.Leu445Trp) single nucleotide variant Pathogenic rs111033307 GRCh37 Chromosome 7, 107334918: 107334918
14 SLC26A4 NM_000441.1(SLC26A4): c.578C> T (p.Thr193Ile) single nucleotide variant Pathogenic rs111033348 GRCh37 Chromosome 7, 107314771: 107314771
15 SLC26A4 NM_000441.1(SLC26A4): c.412G> T (p.Val138Phe) single nucleotide variant Pathogenic rs111033199 GRCh37 Chromosome 7, 107312690: 107312690
16 SLC26A4 NM_000441.1(SLC26A4): c.1588T> C (p.Tyr530His) single nucleotide variant Pathogenic/Likely pathogenic rs111033254 GRCh37 Chromosome 7, 107338530: 107338530
17 SLC26A4 NM_000441.1(SLC26A4): c.85G> C (p.Glu29Gln) single nucleotide variant Pathogenic/Likely pathogenic rs111033205 GRCh37 Chromosome 7, 107302171: 107302171
18 SLC26A4 NM_000441.1(SLC26A4): c.919-2A> G single nucleotide variant Pathogenic rs111033313 GRCh37 Chromosome 7, 107323898: 107323898
19 SLC26A4 NM_000441.1(SLC26A4): c.1540C> A (p.Gln514Lys) single nucleotide variant Pathogenic rs121908366 GRCh37 Chromosome 7, 107336480: 107336480
20 KCNJ10 NM_002241.4(KCNJ10): c.581C> A (p.Pro194His) single nucleotide variant Pathogenic rs137853073 GRCh37 Chromosome 1, 160011742: 160011742
21 FOXI1 NM_012188.4(FOXI1): c.800G> A (p.Arg267Gln) single nucleotide variant Pathogenic rs121909341 GRCh37 Chromosome 5, 169535278: 169535278
22 SLC26A4 NM_000441.1(SLC26A4): c.-3-2A> G single nucleotide variant Pathogenic rs397516411 GRCh37 Chromosome 7, 107302082: 107302082
23 SLC26A4 NM_000441.1(SLC26A4): c.1149+3A> G single nucleotide variant Pathogenic rs111033314 GRCh37 Chromosome 7, 107329648: 107329648
24 SLC26A4 NM_000441.1(SLC26A4): c.1198delT (p.Cys400Valfs) deletion Pathogenic/Likely pathogenic rs397516413 GRCh37 Chromosome 7, 107330617: 107330617
25 SLC26A4 NM_000441.1(SLC26A4): c.1226G> A (p.Arg409His) single nucleotide variant Pathogenic rs111033305 GRCh37 Chromosome 7, 107330645: 107330645
26 SLC26A4 NM_000441.1(SLC26A4): c.1226G> C (p.Arg409Pro) single nucleotide variant Likely pathogenic rs111033305 GRCh37 Chromosome 7, 107330645: 107330645
27 SLC26A4 NM_000441.1(SLC26A4): c.1229C> T (p.Thr410Met) single nucleotide variant Pathogenic rs111033220 GRCh37 Chromosome 7, 107330648: 107330648
28 SLC26A4 NM_000441.1(SLC26A4): c.1264-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs111033311 GRCh37 Chromosome 7, 107334847: 107334847
29 SLC26A4 NM_000441.1(SLC26A4): c.1284_1286delTGC (p.Ala429del) deletion Pathogenic/Likely pathogenic rs111033306 GRCh37 Chromosome 7, 107334868: 107334870
30 SLC26A4 NM_000441.1(SLC26A4): c.1336C> T (p.Gln446Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516416 GRCh37 Chromosome 7, 107334920: 107334920
31 SLC26A4 NM_000441.1(SLC26A4): c.1341+1delG (p.Lys447Asnfs) deletion Pathogenic rs397516417 GRCh37 Chromosome 7, 107334926: 107334926
32 SLC26A4 NM_000441.1(SLC26A4): c.1342-2_1343dupAGTC duplication Pathogenic rs111033407 GRCh37 Chromosome 7, 107335064: 107335067
33 SLC26A4 NM_000441.1(SLC26A4): c.1437+2T> G single nucleotide variant Pathogenic/Likely pathogenic rs397516418 GRCh37 Chromosome 7, 107335163: 107335163
34 SLC26A4 NM_000441.1(SLC26A4): c.1541A> G (p.Gln514Arg) single nucleotide variant Pathogenic/Likely pathogenic rs111033316 GRCh37 Chromosome 7, 107336481: 107336481
35 SLC26A4 NM_000441.1(SLC26A4): c.1548_1549insC (p.Ser517Leufs) insertion Likely pathogenic rs111033317 GRCh37 Chromosome 7, 107338490: 107338491
36 SLC26A4 NM_000441.1(SLC26A4): c.1614+1G> A single nucleotide variant Pathogenic rs111033312 GRCh37 Chromosome 7, 107338557: 107338557
37 SLC26A4 NM_000441.1(SLC26A4): c.164+2T> C single nucleotide variant Pathogenic rs397516420 GRCh37 Chromosome 7, 107302252: 107302252
38 SLC26A4 NM_000441.1(SLC26A4): c.1694G> A (p.Cys565Tyr) single nucleotide variant Likely pathogenic rs111033257 GRCh37 Chromosome 7, 107340607: 107340607
39 SLC26A4 NM_000441.1(SLC26A4): c.170C> G (p.Ser57Ter) single nucleotide variant Likely pathogenic rs111033200 GRCh37 Chromosome 7, 107303746: 107303746
40 SLC26A4 NM_000441.1(SLC26A4): c.1963A> G (p.Ile655Val) single nucleotide variant Likely pathogenic rs397516424 GRCh37 Chromosome 7, 107342431: 107342431
41 SLC26A4 NM_000441.1(SLC26A4): c.2015G> A (p.Gly672Glu) single nucleotide variant Pathogenic rs111033309 GRCh37 Chromosome 7, 107342483: 107342483
42 SLC26A4 NM_000441.1(SLC26A4): c.2027T> A (p.Leu676Gln) single nucleotide variant Pathogenic/Likely pathogenic rs111033318 GRCh37 Chromosome 7, 107342495: 107342495
43 SLC26A4 NM_000441.1(SLC26A4): c.2145G> T (p.Lys715Asn) single nucleotide variant Likely pathogenic rs397516427 GRCh37 Chromosome 7, 107350554: 107350554
44 SLC26A4 NM_000441.1(SLC26A4): c.2188C> T (p.Gln730Ter) single nucleotide variant Pathogenic rs397516428 GRCh37 Chromosome 7, 107350597: 107350597
45 SLC26A4 NM_000441.1(SLC26A4): c.294_298delCACGC (p.Thr99Alafs) deletion Pathogenic/Likely pathogenic rs111033241 GRCh37 Chromosome 7, 107303870: 107303874
46 SLC26A4 NM_000441.1(SLC26A4): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs111033302 GRCh37 Chromosome 7, 107302088: 107302088
47 SLC26A4 NM_000441.1(SLC26A4): c.397_398delTCinsA (p.Ser133Lysfs) indel Likely pathogenic rs111033400 GRCh37 Chromosome 7, 107312675: 107312676
48 SLC26A4 NM_000441.1(SLC26A4): c.589G> A (p.Gly197Arg) single nucleotide variant Likely pathogenic rs111033380 GRCh37 Chromosome 7, 107314782: 107314782
49 SLC26A4 NM_000441.1(SLC26A4): c.68C> A (p.Ser23Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516430 GRCh37 Chromosome 7, 107302154: 107302154
50 SLC26A4 NM_000441.1(SLC26A4): c.706C> G (p.Leu236Val) single nucleotide variant Likely pathogenic rs111033242 GRCh37 Chromosome 7, 107315495: 107315495

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

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

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

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.79 GJB2 GJB3 GJB6

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

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

id Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.56 ATP6V0A4 ATP6V1B1 GJB6 SLC26A4
2 basolateral plasma membrane GO:0016323 9.54 ATP6V1B1 KCNJ10 OTOF
3 vacuolar proton-transporting V-type ATPase complex GO:0016471 9.16 ATP6V0A4 ATP6V1B1
4 gap junction GO:0005921 9.13 GJB2 GJB3 GJB6
5 connexin complex GO:0005922 8.8 GJB2 GJB3 GJB6
6 plasma membrane GO:0005886 10.02 ATP6V0A4 CDH23 DFNA5 GJB2 GJB3 GJB6

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.89 ATP6V0A4 ATP6V1B1 KCNJ10 SLC26A2 SLC26A4
2 ossification GO:0001503 9.63 ATP6V0A4 ATP6V1B1 SLC26A2
3 regulation of membrane potential GO:0042391 9.58 KCNJ10 SLC26A2 SLC26A4
4 transferrin transport GO:0033572 9.55 ATP6V0A4 ATP6V1B1
5 ATP hydrolysis coupled proton transport GO:0015991 9.54 ATP6V0A4 ATP6V1B1
6 phagosome acidification GO:0090383 9.52 ATP6V0A4 ATP6V1B1
7 sulfate transport GO:0008272 9.51 SLC26A2 SLC26A4
8 inner ear morphogenesis GO:0042472 9.5 ATP6V1B1 FOXI1 POU4F3
9 sulfate transmembrane transport GO:1902358 9.48 SLC26A2 SLC26A4
10 oxalate transport GO:0019532 9.43 SLC26A2 SLC26A4
11 inner ear development GO:0048839 9.43 GJB2 GJB6 POU4F3
12 inner ear receptor cell differentiation GO:0060113 9.37 DFNA5 POU4F3
13 cell communication GO:0007154 9.33 GJB2 GJB3 GJB6
14 sensory perception of sound GO:0007605 9.28 ATP6V0A4 ATP6V1B1 CDH23 DFNA5 GJB2 GJB6
15 regulation of pH GO:0006885 9.13 ATP6V0A4 ATP6V1B1 SLC26A4

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

id Name GO ID Score Top Affiliating Genes
1 hydrogen ion transmembrane transporter activity GO:0015078 9.4 ATP6V0A4 ATP6V1B1
2 anion:anion antiporter activity GO:0015301 9.37 SLC26A2 SLC26A4
3 bicarbonate transmembrane transporter activity GO:0015106 9.32 SLC26A2 SLC26A4
4 sulfate transmembrane transporter activity GO:0015116 9.26 SLC26A2 SLC26A4
5 gap junction channel activity GO:0005243 9.16 GJB2 GJB3
6 secondary active sulfate transmembrane transporter activity GO:0008271 8.96 SLC26A2 SLC26A4
7 oxalate transmembrane transporter activity GO:0019531 8.62 SLC26A2 SLC26A4

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

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