USH3B
MCID: USH044
MIFTS: 42

Usher Syndrome, Type Iiib (USH3B)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Usher Syndrome, Type Iiib

MalaCards integrated aliases for Usher Syndrome, Type Iiib:

Name: Usher Syndrome, Type Iiib 56 71
Usher Syndrome Type 3b 56 12 13 15
Usher Syndrome, Type 3b 29 6 39
Ush3b 56 12 73
Usher Syndrome Type Iiib 12
Usher Syndrome 3b 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
patients are typically blind by second or third decade of life, but pace of visual deterioration is highly variable


HPO:

31
usher syndrome, type iiib:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110842
OMIM 56 614504
OMIM Phenotypic Series 56 PS276900
MeSH 43 D052245
ICD10 32 H35.5
UMLS 71 C3281066

Summaries for Usher Syndrome, Type Iiib

UniProtKB/Swiss-Prot : 73 Usher syndrome 3B: A syndrome characterized by progressive vision and hearing loss during early childhood. Some patients have the so-called 'Charles Bonnet syndrome,' involving decreased visual acuity and vivid visual hallucinations. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH3 is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life.

MalaCards based summary : Usher Syndrome, Type Iiib, also known as usher syndrome type 3b, is related to retinitis pigmentosa-deafness syndrome and yemenite deaf-blind hypopigmentation syndrome, and has symptoms including photophobia An important gene associated with Usher Syndrome, Type Iiib is HARS1 (Histidyl-TRNA Synthetase 1), and among its related pathways/superpathways is tRNA Aminoacylation. Affiliated tissues include eye and retina, and related phenotypes are hearing impairment and visual impairment

Disease Ontology : 12 An Usher syndrome type 3 that has material basis in homozygous mutation in the HARS gene on chromosome 5q31.

OMIM : 56 Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life (Karjalainen et al., 1985; Pakarinen et al., 1995). For a discussion of genetic heterogeneity of type III Usher syndrome, see USH3A (276902). (614504)

Related Diseases for Usher Syndrome, Type Iiib

Diseases in the Usher Syndrome family:

Usher Syndrome, Type I Usher Syndrome, Type Iia
Usher Syndrome, Type Iiia Usher Syndrome, Type Ic
Usher Syndrome, Type Id Usher Syndrome, Type if
Usher Syndrome, Type Iic Usher Syndrome, Type Ig
Usher Syndrome, Type Iid Usher Syndrome, Type Ih
Usher Syndrome, Type Iiib Usher Syndrome, Type Ij
Usher Syndrome, Type Ik Usher Syndrome, Type Iv
Usher Syndrome, Type 1m Usher Syndrome Type 2
Usher Syndrome, Type 2b

Diseases related to Usher Syndrome, Type Iiib via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa-deafness syndrome 30.6 WHRN HARS1
2 yemenite deaf-blind hypopigmentation syndrome 30.3 USH2A MYO7A
3 branchiootic syndrome 1 29.7 WHRN USH2A USH1G MYO7A
4 usher syndrome 27.1 WHRN USH2A USH1G USH1C PCDH15 MYO7A
5 autosomal recessive nonsyndromic deafness 3 10.3 WHRN MYO7A
6 nonsyndromic retinitis pigmentosa 10.2 USH2A CLRN1
7 acute hemorrhagic leukoencephalitis 10.2 USH1G MYO7A
8 deafness, autosomal dominant 56 10.1 WHRN USH2A
9 usher syndrome, type ik 10.1 PCDH15 CLRN1
10 deafness, autosomal recessive 57 10.1 WHRN USH1C
11 bagassosis 10.1 HARS2 HARS1
12 deafness, autosomal dominant 65 10.1 WHRN PCDH15
13 dfnb1 10.1 PCDH15 MYO7A
14 deafness, autosomal recessive 98 10.0 EPRS1 ADGRV1
15 deafness, autosomal recessive 86 10.0 WHRN PCDH15
16 deafness, autosomal recessive 100 10.0 MYO7A ADGRV1
17 pathologic nystagmus 10.0 USH2A HARS1 CLRN1
18 choroid disease 10.0 USH2A MYO7A
19 deafness, autosomal recessive 16 9.9 USH1C PCDH15
20 stargardt disease 9.9 USH2A MYO7A CLRN1
21 vestibular disease 9.9 PCDH15 MYO7A
22 charcot-marie-tooth disease, axonal, type 2u 9.9 MARS1 EPRS1
23 epilepsy, familial temporal lobe, 1 9.9 EPRS1 ADGRV1
24 autosomal recessive nonsyndromic deafness 9.9 WHRN PCDH15 MYO7A
25 deafness, autosomal recessive 48 9.9 WHRN PCDH15 MYO7A
26 deafness, autosomal recessive 30 9.8 WHRN PCDH15 MYO7A
27 deafness, autosomal recessive 9.8 WHRN USH1C PCDH15
28 46 xx gonadal dysgenesis 9.8 HARS2 EPRS1
29 charcot-marie-tooth disease, dominant intermediate c 9.8 MARS1 EPRS1
30 late-onset retinal degeneration 9.8 WHRN USH2A ADGRV1
31 autosomal genetic disease 9.8 USH2A MYO7A EPRS1
32 autosomal recessive nonsyndromic deafness 36 9.8 WHRN USH1C PCDH15
33 charcot-marie-tooth disease, axonal, type 2d 9.8 MARS1 EPRS1
34 nonsyndromic hearing loss 9.8 USH2A PCDH15 MYO7A
35 deafness, autosomal recessive 18a 9.8 USH1C PCDH15 MYO7A
36 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.7 USH1C PCDH15 MYO7A
37 perrault syndrome 9.7 HARS2 HARS1 EPRS1 CLRN1
38 deafness, autosomal recessive 31 9.6 WHRN USH2A CLRN1 ADGRV1
39 robinow syndrome, autosomal recessive 1 9.6 MARS1 EPRS1
40 usher syndrome, type ig 9.6 WHRN USH1G USH1C PCDH15
41 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.5 WHRN USH1C PCDH15 MYO7A
42 autosomal dominant distal hereditary motor neuronopathy 9.4 MARS1 EPRS1
43 leber plus disease 9.3 WHRN USH2A MYO7A CLRN1 ADGRV1
44 neuronopathy, distal hereditary motor, type va 9.3 MARS1 HARS2 HARS1 EPRS1
45 deafness, autosomal dominant 11 9.3 WHRN USH1G USH1C PCDH15 MYO7A
46 usher syndrome, type ic 9.1 WHRN USH1G USH1C PCDH15 MYO7A CLRN1
47 deafness, autosomal recessive 2 8.9 WHRN USH1G USH1C PCDH15 MYO7A ADGRV1
48 usher syndrome, type iia 8.8 WHRN USH2A USH1C PCDH15 MYO7A ADGRV1
49 inherited retinal disorder 8.8 USH2A USH1C PCDH15 MYO7A CLRN1 ADGRV1
50 eye degenerative disease 8.8 WHRN USH2A USH1C PCDH15 MYO7A EPRS1

Graphical network of the top 20 diseases related to Usher Syndrome, Type Iiib:



Diseases related to Usher Syndrome, Type Iiib

Symptoms & Phenotypes for Usher Syndrome, Type Iiib

Human phenotypes related to Usher Syndrome, Type Iiib:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 visual impairment 31 HP:0000505
3 photophobia 31 HP:0000613
4 optic disc pallor 31 HP:0000543
5 delayed gross motor development 31 HP:0002194
6 horizontal nystagmus 31 HP:0000666
7 truncal ataxia 31 HP:0002078

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
photophobia
optic disc pallor
attenuation of retinal vessels
visual impairment, progressive, starting early childhood
fine horizontal nystagmus
more
Head And Neck Ears:
hearing loss, progressive, starting in infancy

Neurologic Central Nervous System:
delayed gross motor development
patellar tendon reflexes hyperactive
truncal ataxia, mild
gait wide-based

Neurologic Behavioral Psychiatric Manifestations:
hallucinations, visual, precipitated by infectious illness (in some patients)
nonsensical speech accompanying visual hallucinations (in some patients)
inappropriate laughter accompanying visual hallucinations (in some patients)
psychomotor agitation accompanying visual hallucinations (in some patients)

Clinical features from OMIM:

614504

UMLS symptoms related to Usher Syndrome, Type Iiib:


photophobia

MGI Mouse Phenotypes related to Usher Syndrome, Type Iiib:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.81 ADGRV1 CLRN1 HARS1 MYO7A PCDH15 USH1C
2 nervous system MP:0003631 9.56 ADGRV1 CLRN1 MYO7A PCDH15 USH1C USH1G
3 vision/eye MP:0005391 9.23 ADGRV1 CLRN1 MYO7A PCDH15 USH1C USH1G

Drugs & Therapeutics for Usher Syndrome, Type Iiib

Search Clinical Trials , NIH Clinical Center for Usher Syndrome, Type Iiib

Genetic Tests for Usher Syndrome, Type Iiib

Genetic tests related to Usher Syndrome, Type Iiib:

# Genetic test Affiliating Genes
1 Usher Syndrome, Type 3b 29 HARS1

Anatomical Context for Usher Syndrome, Type Iiib

MalaCards organs/tissues related to Usher Syndrome, Type Iiib:

40
Eye, Retina

Publications for Usher Syndrome, Type Iiib

Articles related to Usher Syndrome, Type Iiib:

# Title Authors PMID Year
1
Genetic mapping and exome sequencing identify variants associated with five novel diseases. 6 56
22279524 2012
2
The ophthalmological course of Usher syndrome type III. 56
8864816 1995
3
The Usher Syndrome Type IIIB Histidyl-tRNA Synthetase Mutation Confers Temperature Sensitivity. 61
28632987 2017
4
A single Danio rerio hars gene encodes both cytoplasmic and mitochondrial histidyl-tRNA synthetases. 61
28934368 2017

Variations for Usher Syndrome, Type Iiib

ClinVar genetic disease variations for Usher Syndrome, Type Iiib:

6 (show top 50) (show all 89) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HARS1 NM_002109.6(HARS1):c.1445C>T (p.Thr482Met)SNV Conflicting interpretations of pathogenicity 472990 rs147372931 5:140054277-140054277 5:140674692-140674692
2 HARS1 NM_002109.6(HARS1):c.1372G>A (p.Ala458Thr)SNV Conflicting interpretations of pathogenicity 578537 rs891844407 5:140054350-140054350 5:140674765-140674765
3 HARS1 NM_002109.6(HARS1):c.679T>G (p.Ser227Ala)SNV Conflicting interpretations of pathogenicity 576600 rs768076848 5:140057290-140057290 5:140677705-140677705
4 HARS1 NM_002109.6(HARS1):c.1361A>C (p.Tyr454Ser)SNV Conflicting interpretations of pathogenicity 29756 rs387906639 5:140054361-140054361 5:140674776-140674776
5 HARS1 NM_002109.6(HARS1):c.410G>A (p.Arg137Gln)SNV Conflicting interpretations of pathogenicity 40062 rs191391414 5:140058699-140058699 5:140679114-140679114
6 HARS1 NM_002109.6(HARS1):c.90+1G>CSNV Conflicting interpretations of pathogenicity 546982 rs1554109203 5:140070799-140070799 5:140691214-140691214
7 HARS1 NM_002109.6(HARS1):c.1312-8C>TSNV Conflicting interpretations of pathogenicity 227423 rs772505507 5:140054418-140054418 5:140674833-140674833
8 HARS1 NC_000005.10:g.(?_140676634)_(140678035_?)deldeletion Uncertain significance 583925 5:140056219-140057620 5:140676634-140678035
9 HARS1 NM_002109.6(HARS1):c.1194+4G>ASNV Uncertain significance 566059 rs370189312 5:140056235-140056235 5:140676650-140676650
10 HARS1 NM_002109.6(HARS1):c.382C>T (p.Arg128Cys)SNV Uncertain significance 351240 rs138582560 5:140059387-140059387 5:140679802-140679802
11 HARS1 NM_002109.6(HARS1):c.103G>A (p.Val35Met)SNV Uncertain significance 351242 rs144588417 5:140070517-140070517 5:140690932-140690932
12 HARS1 NM_002109.6(HARS1):c.1009G>T (p.Glu337Ter)SNV Uncertain significance 540196 rs1370029240 5:140056424-140056424 5:140676839-140676839
13 HARS1 NM_002109.6(HARS1):c.694C>T (p.Arg232Cys)SNV Uncertain significance 198477 rs186526524 5:140057275-140057275 5:140677690-140677690
14 HARS1 NM_002109.6(HARS1):c.911_922del (p.Leu304_Glu307del)deletion Uncertain significance 199074 rs794727969 5:140056603-140056614 5:140677018-140677029
15 HARS1 NM_002109.6(HARS1):c.1028C>T (p.Thr343Ile)SNV Uncertain significance 583085 rs1562005331 5:140056405-140056405 5:140676820-140676820
16 HARS1 NM_002109.6(HARS1):c.612A>G (p.Ile204Met)SNV Uncertain significance 576706 rs1562008815 5:140057511-140057511 5:140677926-140677926
17 HARS1 NM_002109.6(HARS1):c.218G>A (p.Arg73His)SNV Uncertain significance 578146 rs767325912 5:140062767-140062767 5:140683182-140683182
18 HARS1 NM_002109.6(HARS1):c.1111G>A (p.Asp371Asn)SNV Uncertain significance 540199 rs753104645 5:140056322-140056322 5:140676737-140676737
19 HARS1 NM_002109.6(HARS1):c.527T>A (p.Phe176Tyr)SNV Uncertain significance 540204 rs745780898 5:140057596-140057596 5:140678011-140678011
20 HARS1 NC_000005.10:g.(?_140679002)_(140683219_?)dupduplication Uncertain significance 831429 5:140058587-140062804
21 HARS1 NM_002109.6(HARS1):c.1526G>T (p.Cys509Phe)SNV Uncertain significance 855414 5:140053846-140053846 5:140674261-140674261
22 HARS1 NM_002109.6(HARS1):c.1469G>A (p.Arg490Gln)SNV Uncertain significance 860522 5:140053903-140053903 5:140674318-140674318
23 HARS1 NM_002109.6(HARS1):c.1468C>T (p.Arg490Ter)SNV Uncertain significance 837043 5:140053904-140053904 5:140674319-140674319
24 HARS1 NM_002109.6(HARS1):c.1420G>A (p.Gly474Arg)SNV Uncertain significance 856475 5:140054302-140054302 5:140674717-140674717
25 HARS1 NM_002109.6(HARS1):c.1393A>G (p.Ile465Val)SNV Uncertain significance 856771 5:140054329-140054329 5:140674744-140674744
26 HARS1 NM_002109.6(HARS1):c.1329_1331GAA[1] (p.Lys444del)short repeat Uncertain significance 846422 5:140054388-140054390 5:140674803-140674805
27 HARS1 NM_002109.6(HARS1):c.1255_1256delinsCT (p.Lys419Leu)indel Uncertain significance 851428 5:140054657-140054658 5:140675072-140675073
28 HARS1 NM_002109.6(HARS1):c.1151T>A (p.Ile384Asn)SNV Uncertain significance 838189 5:140056282-140056282 5:140676697-140676697
29 HARS1 NM_002109.6(HARS1):c.1009G>A (p.Glu337Lys)SNV Uncertain significance 851296 5:140056424-140056424 5:140676839-140676839
30 HARS1 NM_002109.6(HARS1):c.797G>T (p.Arg266Leu)SNV Uncertain significance 858347 5:140056938-140056938 5:140677353-140677353
31 HARS1 NM_002109.6(HARS1):c.695G>A (p.Arg232His)SNV Uncertain significance 864435 5:140057274-140057274 5:140677689-140677689
32 HARS1 NM_002109.6(HARS1):c.677T>A (p.Val226Asp)SNV Uncertain significance 864758 5:140057292-140057292 5:140677707-140677707
33 HARS1 NM_002109.6(HARS1):c.655G>A (p.Gly219Arg)SNV Uncertain significance 846536 5:140057314-140057314 5:140677729-140677729
34 HARS1 NM_002109.6(HARS1):c.545T>G (p.Phe182Cys)SNV Uncertain significance 850005 5:140057578-140057578 5:140677993-140677993
35 HARS1 NM_002109.6(HARS1):c.409C>T (p.Arg137Trp)SNV Uncertain significance 861899 5:140058700-140058700 5:140679115-140679115
36 HARS1 NM_002109.6(HARS1):c.296T>G (p.Leu99Arg)SNV Uncertain significance 846902 5:140062689-140062689 5:140683104-140683104
37 HARS1 NM_002109.6(HARS1):c.159A>G (p.Lys53=)SNV Uncertain significance 855504 5:140070461-140070461 5:140690876-140690876
38 HARS1 NM_002109.6(HARS1):c.142G>A (p.Asp48Asn)SNV Uncertain significance 849134 5:140070478-140070478 5:140690893-140690893
39 HARS1 NM_002109.6(HARS1):c.62T>G (p.Leu21Arg)SNV Uncertain significance 839491 5:140070828-140070828 5:140691243-140691243
40 HARS1 NC_000005.9:g.140059894_140070834deldeletion Uncertain significance 851773
41 HARS1 NM_002109.6(HARS1):c.1133C>T (p.Pro378Leu)SNV Uncertain significance 576639 rs377410852 5:140056300-140056300 5:140676715-140676715
42 HARS1 NM_002109.6(HARS1):c.203G>A (p.Arg68Gln)SNV Uncertain significance 565367 rs753788498 5:140062782-140062782 5:140683197-140683197
43 HARS1 NM_002109.6(HARS1):c.782C>G (p.Pro261Arg)SNV Uncertain significance 569771 rs1319398620 5:140056953-140056953 5:140677368-140677368
44 HARS1 NM_002109.6(HARS1):c.244C>T (p.Arg82Cys)SNV Uncertain significance 568450 rs769340873 5:140062741-140062741 5:140683156-140683156
45 HARS1 NM_002109.6(HARS1):c.88C>A (p.Leu30Met)SNV Uncertain significance 566921 rs1247070065 5:140070802-140070802 5:140691217-140691217
46 HARS1 NM_002109.6(HARS1):c.797G>A (p.Arg266His)SNV Uncertain significance 618673 rs765223763 5:140056938-140056938 5:140677353-140677353
47 HARS1 NM_002109.6(HARS1):c.1439C>T (p.Ser480Leu)SNV Uncertain significance 654293 5:140054283-140054283 5:140674698-140674698
48 HARS1 NM_002109.6(HARS1):c.1369G>A (p.Glu457Lys)SNV Uncertain significance 652578 5:140054353-140054353 5:140674768-140674768
49 HARS1 NM_002109.6(HARS1):c.1252_1254AAG[1] (p.Lys419del)short repeat Uncertain significance 664641 5:140054656-140054658 5:140675071-140675073
50 HARS1 NM_002109.6(HARS1):c.1228C>T (p.Gln410Ter)SNV Uncertain significance 647434 5:140054685-140054685 5:140675100-140675100

UniProtKB/Swiss-Prot genetic disease variations for Usher Syndrome, Type Iiib:

73
# Symbol AA change Variation ID SNP ID
1 HARS1 p.Tyr454Ser VAR_067918 rs387906639

Expression for Usher Syndrome, Type Iiib

Search GEO for disease gene expression data for Usher Syndrome, Type Iiib.

Pathways for Usher Syndrome, Type Iiib

Pathways related to Usher Syndrome, Type Iiib according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.17 MARS1 HARS2 HARS1 EPRS1

GO Terms for Usher Syndrome, Type Iiib

Cellular components related to Usher Syndrome, Type Iiib according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.2 WHRN USH2A USH1G USH1C PCDH15 MYO7A
2 synapse GO:0045202 9.93 WHRN USH1C PCDH15 MYO7A ADGRV1
3 ciliary basal body GO:0036064 9.72 WHRN USH2A USH1G
4 photoreceptor connecting cilium GO:0032391 9.72 WHRN USH2A USH1G USH1C MYO7A
5 photoreceptor outer segment GO:0001750 9.67 USH1C PCDH15 MYO7A
6 microvillus GO:0005902 9.65 USH1C MYO7A CLRN1
7 periciliary membrane compartment GO:1990075 9.58 WHRN USH2A ADGRV1
8 stereocilium tip GO:0032426 9.56 WHRN USH1C
9 stereocilia ankle link complex GO:0002142 9.56 WHRN USH2A USH1C ADGRV1
10 USH2 complex GO:1990696 9.54 WHRN USH2A ADGRV1
11 stereocilium bundle GO:0032421 9.52 WHRN USH2A
12 aminoacyl-tRNA synthetase multienzyme complex GO:0017101 9.51 MARS1 EPRS1
13 stereocilia ankle link GO:0002141 9.46 WHRN USH2A USH1C ADGRV1
14 stereocilium membrane GO:0060171 9.43 USH2A ADGRV1
15 photoreceptor inner segment GO:0001917 9.43 WHRN USH2A USH1G USH1C MYO7A ADGRV1
16 stereocilium GO:0032420 9.1 WHRN USH1C PCDH15 MYO7A CLRN1 ADGRV1

Biological processes related to Usher Syndrome, Type Iiib according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.88 USH2A PCDH15 MYO7A CLRN1 ADGRV1
2 translation GO:0006412 9.87 MARS1 HARS2 HARS1 EPRS1
3 photoreceptor cell maintenance GO:0045494 9.8 USH2A USH1G USH1C PCDH15 CLRN1 ADGRV1
4 actin filament organization GO:0007015 9.76 PCDH15 MYO7A CLRN1
5 inner ear morphogenesis GO:0042472 9.73 USH1G USH1C MYO7A
6 inner ear development GO:0048839 9.71 PCDH15 MYO7A ADGRV1
7 tRNA aminoacylation for protein translation GO:0006418 9.71 MARS1 HARS2 HARS1 EPRS1
8 establishment of protein localization GO:0045184 9.7 WHRN USH2A ADGRV1
9 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.67 WHRN PCDH15 ADGRV1
10 auditory receptor cell stereocilium organization GO:0060088 9.67 WHRN PCDH15 MYO7A CLRN1
11 equilibrioception GO:0050957 9.65 USH1G USH1C PCDH15 MYO7A CLRN1
12 inner ear auditory receptor cell differentiation GO:0042491 9.63 USH1C PCDH15 MYO7A
13 inner ear receptor cell stereocilium organization GO:0060122 9.63 WHRN USH1G USH1C PCDH15 MYO7A ADGRV1
14 inner ear receptor cell differentiation GO:0060113 9.61 USH2A USH1G MYO7A
15 inner ear receptor cell development GO:0060119 9.58 WHRN USH1C
16 sensory perception of sound GO:0007605 9.56 WHRN USH2A USH1G USH1C PCDH15 MYO7A
17 maintenance of animal organ identity GO:0048496 9.55 USH2A ADGRV1
18 histidyl-tRNA aminoacylation GO:0006427 9.51 HARS2 HARS1
19 sensory perception of light stimulus GO:0050953 9.23 WHRN USH2A USH1G USH1C PCDH15 MYO7A

Molecular functions related to Usher Syndrome, Type Iiib according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.87 WHRN USH2A USH1G MYO7A HARS2 HARS1
2 ligase activity GO:0016874 9.46 MARS1 HARS2 HARS1 EPRS1
3 histidine-tRNA ligase activity GO:0004821 9.26 HARS2 HARS1
4 spectrin binding GO:0030507 9.13 USH1G USH1C MYO7A
5 aminoacyl-tRNA ligase activity GO:0004812 8.92 MARS1 HARS2 HARS1 EPRS1

Sources for Usher Syndrome, Type Iiib

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
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