USH3B
MCID: USH044
MIFTS: 41

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 branchiootic syndrome 1, 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 are Gene Expression and tRNA Aminoacylation. Affiliated tissues include eye and retina, and related phenotypes are hearing impairment and delayed gross motor development

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 all 48)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa-deafness syndrome 29.9 WHRN MYO7A
2 branchiootic syndrome 1 29.4 WHRN USH1G MYO7A
3 usher syndrome 28.5 WHRN USH1G MYO7A HARS1 EPRS1 CLRN1
4 yemenite deaf-blind hypopigmentation syndrome 10.1
5 charcot-marie-tooth disease, axonal, type 2w 10.0 MARS1 HARS1 AARS1
6 robinow syndrome, autosomal recessive 1 9.9 YARS1 MARS1 EPRS1
7 autosomal recessive nonsyndromic deafness 9.8 WHRN MYO7A
8 autosomal recessive nonsyndromic deafness 3 9.8 WHRN MYO7A
9 deafness, autosomal recessive 31 9.7 WHRN USH1G CLRN1
10 deafness, autosomal recessive 48 9.7 WHRN MYO7A
11 charcot-marie-tooth disease, axonal, type 2u 9.7 MARS1 GARS1 EPRS1
12 deafness, autosomal recessive 30 9.6 WHRN MYO7A
13 rare genetic deafness 9.5 WHRN MYO7A CLRN1
14 deafness, autosomal recessive 2 9.5 WHRN USH1G MYO7A
15 deafness, autosomal recessive 23 9.5 WHRN USH1G MYO7A
16 charcot-marie-tooth disease, recessive intermediate b 9.5 YARS1 GARS1 AARS1
17 charcot-marie-tooth disease intermediate type 9.5 YARS1 GARS1 AARS1
18 deafness, autosomal dominant 11 9.5 WHRN USH1G MYO7A
19 myositis 9.4 HARS1 GARS1 AARS1
20 usher syndrome, type i 9.3 WHRN USH1G MYO7A CLRN1
21 usher syndrome, type ih 9.3 WHRN USH1G MYO7A CLRN1
22 usher syndrome, type ij 9.3 WHRN USH1G MYO7A CLRN1
23 usher syndrome, type iid 9.3 WHRN USH1G MYO7A CLRN1
24 usher syndrome, type ic 9.3 WHRN USH1G MYO7A CLRN1
25 usher syndrome, type if 9.3 WHRN USH1G MYO7A CLRN1
26 auditory system disease 9.3 WHRN USH1G MYO7A EPRS1
27 usher syndrome, type iic 9.3 WHRN USH1G MYO7A CLRN1
28 usher syndrome, type id 9.3 WHRN USH1G MYO7A CLRN1
29 deafness, autosomal recessive 12 9.3 WHRN USH1G MYO7A CLRN1
30 muscular disease 9.3 HARS1 GARS1 EPRS1 AARS1
31 autosomal dominant nonsyndromic deafness 9.2 WHRN USH1G MYO7A CLRN1
32 nonsyndromic deafness 9.2 WHRN USH1G MYO7A CLRN1
33 neuromuscular disease 9.2 YARS1 GARS1 EPRS1 AARS1
34 charcot-marie-tooth disease/hereditary motor and sensory neuropathy 9.2 YARS1 MARS1 GARS1 AARS1
35 fundus dystrophy 9.2 WHRN USH1G MYO7A CLRN1
36 retinal disease 9.1 USH1G MYO7A CLRN1
37 neuropathy, congenital hypomyelinating, 1, autosomal recessive 9.1 YARS1 GARS1 AARS1
38 sensorineural hearing loss 9.1 WHRN USH1G MYO7A HARS1
39 usher syndrome type 2 9.1 WHRN USH1G MYO7A HARS1 CLRN1
40 usher syndrome, type iiia 9.1 WHRN USH1G MYO7A HARS1 CLRN1
41 tooth disease 9.1 YARS1 MARS1 HARS1 GARS1 AARS1
42 charcot-marie-tooth disease, axonal, type 2n 9.1 YARS1 MARS1 GARS1 EPRS1 AARS1
43 charcot-marie-tooth disease, dominant intermediate c 9.0 YARS1 MARS1 GARS1 EPRS1 AARS1
44 charcot-marie-tooth disease, axonal, type 2d 9.0 YARS1 MARS1 GARS1 EPRS1 AARS1
45 charcot-marie-tooth disease, axonal, type 2e 9.0 YARS1 MARS1 GARS1 EPRS1 AARS1
46 perrault syndrome 8.9 HARS1 GARS1 EPRS1 EARS2 CLRN1 AARS1
47 charcot-marie-tooth disease 8.8 YARS1 MARS1 HARS1 GARS1 EPRS1 AARS1
48 retinitis pigmentosa 8.4 YARS1 WHRN USH1G MYO7A HARS1 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 delayed gross motor development 31 HP:0002194
3 visual impairment 31 HP:0000505
4 photophobia 31 HP:0000613
5 truncal ataxia 31 HP:0002078
6 horizontal nystagmus 31 HP:0000666
7 optic disc pallor 31 HP:0000543

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
delayed gross motor development
patellar tendon reflexes hyperactive
truncal ataxia, mild
gait wide-based

Head And Neck Ears:
hearing loss, progressive, starting in infancy

Head And Neck Eyes:
photophobia
optic disc pallor
attenuation of retinal vessels
visual impairment, progressive, starting early childhood
fine horizontal nystagmus
more
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 9.02 CLRN1 HARS1 MYO7A USH1G WHRN

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 59) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HARS1 NM_002109.6(HARS1):c.1361A>C (p.Tyr454Ser)SNV Conflicting interpretations of pathogenicity 29756 rs387906639 5:140054361-140054361 5:140674776-140674776
2 HARS1 NM_002109.6(HARS1):c.410G>A (p.Arg137Gln)SNV Conflicting interpretations of pathogenicity 40062 rs191391414 5:140058699-140058699 5:140679114-140679114
3 HARS1 NM_002109.6(HARS1):c.1312-8C>TSNV Conflicting interpretations of pathogenicity 227423 rs772505507 5:140054418-140054418 5:140674833-140674833
4 HARS1 NM_002109.6(HARS1):c.90+1G>CSNV Conflicting interpretations of pathogenicity 546982 rs1554109203 5:140070799-140070799 5:140691214-140691214
5 HARS1 NM_002109.6(HARS1):c.1372G>A (p.Ala458Thr)SNV Conflicting interpretations of pathogenicity 578537 5:140054350-140054350 5:140674765-140674765
6 HARS1 NM_002109.6(HARS1):c.1133C>T (p.Pro378Leu)SNV Uncertain significance 576639 5:140056300-140056300 5:140676715-140676715
7 HARS1 NM_002109.6(HARS1):c.203G>A (p.Arg68Gln)SNV Uncertain significance 565367 5:140062782-140062782 5:140683197-140683197
8 HARS1 NM_002109.6(HARS1):c.88C>A (p.Leu30Met)SNV Uncertain significance 566921 rs1247070065 5:140070802-140070802 5:140691217-140691217
9 HARS1 NM_002109.6(HARS1):c.782C>G (p.Pro261Arg)SNV Uncertain significance 569771 rs1319398620 5:140056953-140056953 5:140677368-140677368
10 HARS1 NM_002109.6(HARS1):c.244C>T (p.Arg82Cys)SNV Uncertain significance 568450 5:140062741-140062741 5:140683156-140683156
11 HARS1 NM_002109.6(HARS1):c.1439C>T (p.Ser480Leu)SNV Uncertain significance 654293 5:140054283-140054283 5:140674698-140674698
12 HARS1 NM_002109.6(HARS1):c.1369G>A (p.Glu457Lys)SNV Uncertain significance 652578 5:140054353-140054353 5:140674768-140674768
13 HARS1 NM_002109.6(HARS1):c.1252_1254AAG[1] (p.Lys419del)short repeat Uncertain significance 664641 5:140054656-140054658 5:140675073-140675075
14 HARS1 NM_002109.6(HARS1):c.1228C>T (p.Gln410Ter)SNV Uncertain significance 647434 5:140054685-140054685 5:140675100-140675100
15 HARS1 NM_002109.6(HARS1):c.1160A>G (p.Glu387Gly)SNV Uncertain significance 643854 5:140056273-140056273 5:140676688-140676688
16 HARS1 NM_002109.6(HARS1):c.1084C>T (p.Arg362Cys)SNV Uncertain significance 645270 5:140056349-140056349 5:140676764-140676764
17 HARS1 NM_002109.6(HARS1):c.811G>A (p.Val271Ile)SNV Uncertain significance 661311 5:140056924-140056924 5:140677339-140677339
18 HARS1 NM_002109.6(HARS1):c.639T>G (p.Asp213Glu)SNV Uncertain significance 639090 5:140057330-140057330 5:140677745-140677745
19 HARS1 NM_002109.6(HARS1):c.407C>T (p.Ala136Val)SNV Uncertain significance 655600 5:140058702-140058702 5:140679117-140679117
20 HARS1 NM_002109.6(HARS1):c.199C>T (p.Pro67Ser)SNV Uncertain significance 651299 5:140062786-140062786 5:140683201-140683201
21 HARS1 NM_002109.6(HARS1):c.61C>T (p.Leu21Phe)SNV Uncertain significance 647038 5:140070829-140070829 5:140691244-140691244
22 HARS1 NM_002109.6(HARS1):c.1311+4T>CSNV Uncertain significance 642927 5:140054598-140054598 5:140675013-140675013
23 HARS1 NC_000005.9:g.(?_140056219)_(140057620_?)deldeletion Uncertain significance 583925 5:140056219-140057620 5:140676634-140678035
24 HARS1 NM_002109.6(HARS1):c.1194+4G>ASNV Uncertain significance 566059 5:140056235-140056235 5:140676650-140676650
25 HARS1 NM_002109.6(HARS1):c.679T>G (p.Ser227Ala)SNV Uncertain significance 576600 5:140057290-140057290 5:140677705-140677705
26 HARS1 NM_002109.6(HARS1):c.1028C>T (p.Thr343Ile)SNV Uncertain significance 583085 rs1562005331 5:140056405-140056405 5:140676820-140676820
27 HARS1 NM_002109.6(HARS1):c.612A>G (p.Ile204Met)SNV Uncertain significance 576706 rs1562008815 5:140057511-140057511 5:140677926-140677926
28 HARS1 NM_002109.6(HARS1):c.218G>A (p.Arg73His)SNV Uncertain significance 578146 5:140062767-140062767 5:140683182-140683182
29 HARS1 NM_002109.6(HARS1):c.527T>A (p.Phe176Tyr)SNV Uncertain significance 540204 rs745780898 5:140057596-140057596 5:140678011-140678011
30 HARS1 NM_002109.6(HARS1):c.1009G>T (p.Glu337Ter)SNV Uncertain significance 540196 rs1370029240 5:140056424-140056424 5:140676839-140676839
31 HARS1 NM_002109.6(HARS1):c.1000G>A (p.Val334Met)SNV Uncertain significance 540200 rs1554106875 5:140056433-140056433 5:140676848-140676848
32 HARS1 NM_002109.6(HARS1):c.1217C>A (p.Thr406Asn)SNV Uncertain significance 540205 rs369070016 5:140054696-140054696 5:140675111-140675111
33 HARS1 NM_002109.6(HARS1):c.220G>A (p.Glu74Lys)SNV Uncertain significance 540198 rs774017621 5:140062765-140062765 5:140683180-140683180
34 HARS1 NM_002109.6(HARS1):c.1402G>A (p.Glu468Lys)SNV Uncertain significance 540202 rs199615869 5:140054320-140054320 5:140674735-140674735
35 HARS1 NM_002109.6(HARS1):c.457G>T (p.Ala153Ser)SNV Uncertain significance 540203 rs746887565 5:140058652-140058652 5:140679067-140679067
36 HARS1 NM_002109.6(HARS1):c.1461G>A (p.Val487=)SNV Uncertain significance 540197 rs931036155 5:140053911-140053911 5:140674326-140674326
37 HARS1 NM_002109.6(HARS1):c.1433T>G (p.Leu478Arg)SNV Uncertain significance 540201 rs1024985302 5:140054289-140054289 5:140674704-140674704
38 HARS1 NM_002109.6(HARS1):c.1111G>A (p.Asp371Asn)SNV Uncertain significance 540199 rs753104645 5:140056322-140056322 5:140676737-140676737
39 HARS1 NM_002109.6(HARS1):c.1123C>T (p.Arg375Cys)SNV Uncertain significance 472986 rs774682373 5:140056310-140056310 5:140676725-140676725
40 HARS1 NM_002109.6(HARS1):c.729+3A>GSNV Uncertain significance 472994 rs938453967 5:140057237-140057237 5:140677652-140677652
41 HARS1 NM_002109.6(HARS1):c.52G>A (p.Val18Met)SNV Uncertain significance 472993 rs774632798 5:140070838-140070838 5:140691253-140691253
42 HARS1 NM_002109.6(HARS1):c.694C>T (p.Arg232Cys)SNV Uncertain significance 198477 rs186526524 5:140057275-140057275 5:140677690-140677690
43 HARS1 NM_002109.6(HARS1):c.911_922del (p.Leu304_Glu307del)deletion Uncertain significance 199074 rs794727969 5:140056603-140056614 5:140677018-140677029
44 HARS1 NM_002109.6(HARS1):c.382C>T (p.Arg128Cys)SNV Uncertain significance 351240 rs138582560 5:140059387-140059387 5:140679802-140679802
45 HARS1 NM_002109.6(HARS1):c.103G>A (p.Val35Met)SNV Uncertain significance 351242 rs144588417 5:140070517-140070517 5:140690932-140690932
46 HARS1 NM_002109.6(HARS1):c.1067G>A (p.Ser356Asn)SNV Uncertain significance 446301 rs144322728 5:140056366-140056366 5:140676781-140676781
47 HARS1 NM_002109.6(HARS1):c.465A>G (p.Val155=)SNV Likely benign 472992 rs1202503765 5:140058644-140058644 5:140679059-140679059
48 HARS1 NM_002109.6(HARS1):c.1221G>A (p.Thr407=)SNV Likely benign 472989 rs150274370 5:140054692-140054692 5:140675107-140675107
49 HARS1 NM_002109.6(HARS1):c.1110C>T (p.Phe370=)SNV Likely benign 540207 rs761267344 5:140056323-140056323 5:140676738-140676738
50 HARS1 NM_002109.6(HARS1):c.72G>A (p.Gln24=)SNV Likely benign 540209 rs148516171 5:140070818-140070818 5:140691233-140691233

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
12.93 YARS1 MARS1 HARS1 GARS1 EPRS1 EARS2
2
Show member pathways
11.41 YARS1 MARS1 HARS1 GARS1 EPRS1 EARS2

GO Terms for Usher Syndrome, Type Iiib

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.97 YARS1 USH1G MYO7A MARS1 HARS1 GARS1
2 cytoplasm GO:0005737 9.97 YARS1 WHRN USH1G MYO7A MARS1 HARS1
3 photoreceptor inner segment GO:0001917 9.33 WHRN USH1G MYO7A
4 aminoacyl-tRNA synthetase multienzyme complex GO:0017101 9.26 MARS1 EPRS1
5 stereocilium GO:0032420 9.13 WHRN MYO7A CLRN1
6 photoreceptor connecting cilium GO:0032391 8.8 WHRN USH1G MYO7A

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.73 WHRN USH1G MYO7A CLRN1
2 inner ear receptor cell stereocilium organization GO:0060122 9.58 WHRN USH1G MYO7A
3 tRNA aminoacylation GO:0043039 9.54 EPRS1 EARS2 AARS1
4 neuromuscular process controlling balance GO:0050885 9.51 CLRN1 AARS1
5 auditory receptor cell stereocilium organization GO:0060088 9.5 WHRN MYO7A CLRN1
6 translation GO:0006412 9.5 YARS1 MARS1 HARS1 GARS1 EPRS1 EARS2
7 photoreceptor cell maintenance GO:0045494 9.49 USH1G CLRN1
8 inner ear receptor cell differentiation GO:0060113 9.48 USH1G MYO7A
9 glutamyl-tRNA aminoacylation GO:0006424 9.46 EPRS1 EARS2
10 sensory perception of light stimulus GO:0050953 9.46 WHRN USH1G MYO7A CLRN1
11 equilibrioception GO:0050957 9.43 USH1G MYO7A CLRN1
12 tRNA aminoacylation for protein translation GO:0006418 9.17 YARS1 MARS1 HARS1 GARS1 EPRS1 EARS2

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.86 YARS1 MYO7A MARS1 HARS1 GARS1 EPRS1
2 RNA binding GO:0003723 9.83 YARS1 MARS1 EPRS1 EARS2 AARS1
3 nucleotide binding GO:0000166 9.77 YARS1 MYO7A MARS1 EARS2 AARS1
4 ligase activity GO:0016874 9.5 YARS1 MARS1 HARS1 GARS1 EPRS1 EARS2
5 tRNA binding GO:0000049 9.46 YARS1 MARS1 EARS2 AARS1
6 spectrin binding GO:0030507 9.4 USH1G MYO7A
7 glutamate-tRNA ligase activity GO:0004818 9.32 EPRS1 EARS2
8 aminoacyl-tRNA ligase activity GO:0004812 9.17 YARS1 MARS1 HARS1 GARS1 EPRS1 EARS2

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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