MCID: USH027
MIFTS: 18

Usher Syndrome Type 1j malady

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

Aliases & Classifications for Usher Syndrome Type 1j

About this section

Aliases & Descriptions for Usher Syndrome Type 1j:

Name: Usher Syndrome Type 1j 23

Classifications:



Summaries for Usher Syndrome Type 1j

About this section
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

About this section

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



Diseases related to usher syndrome type 1j

Symptoms for Usher Syndrome Type 1j

About this section

Drugs & Therapeutics for Usher Syndrome Type 1j

About this section

Interventional clinical trials:

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

Genetic Tests for Usher Syndrome Type 1j

About this section

Genetic tests related to Usher Syndrome Type 1j:

id Genetic test Affiliating Genes
1 Usher Syndrome Type 1j23 CIB2

Anatomical Context for Usher Syndrome Type 1j

About this section

Animal Models for Usher Syndrome Type 1j or affiliated genes

About this section

MGI Mouse Phenotypes related to Usher Syndrome Type 1j:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.5CIB2, MYO7A, WHRN

Publications for Usher Syndrome Type 1j

About this section

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

About this section

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)single nucleotide variantPathogenicrs145415848GRCh37Chr 15, 78403513: 78403513

Expression for genes affiliated with Usher Syndrome Type 1j

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

Pathways for genes affiliated with Usher Syndrome Type 1j

About this section

GO Terms for genes affiliated with Usher Syndrome Type 1j

About this section

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

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet