MCID: USH027
MIFTS: 17

Usher Syndrome Type 1j malady

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

Aliases & Classifications for Usher Syndrome Type 1j

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Aliases & Descriptions for Usher Syndrome Type 1j:

Name: Usher Syndrome Type 1j 24

Classifications:



Summaries for Usher Syndrome Type 1j

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MalaCards based summary: Usher Syndrome Type 1j is related to usher syndrome and nonsyndromic deafness. An important gene associated with Usher Syndrome Type 1j is CIB2 (Calcium And Integrin Binding Family Member 2). Related mouse phenotype hearing/vestibular/ear.

Related Diseases for Usher Syndrome Type 1j

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Graphical network of diseases related to Usher Syndrome Type 1j:



Diseases related to usher syndrome type 1j

Symptoms for Usher Syndrome Type 1j

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Drugs & Therapeutics for Usher Syndrome Type 1j

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Usher Syndrome Type 1j

Genetic Tests for Usher Syndrome Type 1j

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Genetic tests related to Usher Syndrome Type 1j:

id Genetic test Affiliating Genes
1 Usher Syndrome Type 1j24 CIB2

Anatomical Context for Usher Syndrome Type 1j

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Animal Models for Usher Syndrome Type 1j or affiliated genes

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MGI Mouse Phenotypes related to Usher Syndrome Type 1j:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.5CIB2, MYO7A, WHRN

Publications for Usher Syndrome Type 1j

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Articles related to Usher Syndrome Type 1j:

idTitleAuthorsYear
1
Mutations in CIB2 calcium and integrin-binding protein disrupt auditory hair cell calcium homeostasis in Usher syndrome type 1J and non-syndromic deafness DFNB48. (23331261)
2013
2
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. (23023331)
2012

Variations for Usher Syndrome Type 1j

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Clinvar genetic disease variations for Usher Syndrome Type 1j:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CIB2NM_006383.3(CIB2): c.192G> C (p.Glu64Asp)SNVPathogenicrs145415848GRCh37Chr 15, 78403513: 78403513

Expression for genes affiliated with Usher Syndrome Type 1j

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Search GEO for disease gene expression data for Usher Syndrome Type 1j.

Pathways for genes affiliated with Usher Syndrome Type 1j

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GO Terms for genes affiliated with Usher Syndrome Type 1j

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Cellular components related to Usher Syndrome Type 1j according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor connecting ciliumGO:00323919.4MYO7A, WHRN
2photoreceptor outer segmentGO:00017509.2CIB2, MYO7A
3photoreceptor inner segmentGO:00019178.5CIB2, MYO7A, WHRN
4stereociliumGO:00324208.4CIB2, MYO7A, WHRN

Biological processes related to Usher Syndrome Type 1j according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sensory perception of light stimulusGO:00509539.4MYO7A, WHRN
2inner ear receptor stereocilium organizationGO:00601229.2MYO7A, WHRN
3sensory perception of soundGO:00076059.1MYO7A, WHRN

Molecular functions related to Usher Syndrome Type 1j according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein complex bindingGO:00324039.1CIB2, MYO7A
2protein homodimerization activityGO:00428038.5CIB2, MYO7A, WHRN

Sources for Usher Syndrome Type 1j

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet