MCID: CTR014
MIFTS: 15

Cataract Microcornea Syndrome malady

Summaries for Cataract Microcornea Syndrome

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32MalaCards
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MalaCards: Cataract Microcornea Syndrome, also known as microcornea cataract syndrome, is related to cataract and cataract 1, multiple types. An important gene associated with Cataract Microcornea Syndrome is GJA8 (gap junction protein, alpha 8, 50kDa). The compound valine have been mentioned in the context of this disorder. Related mouse phenotype vision/eye.

Aliases & Classifications for Cataract Microcornea Syndrome

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42NIH Rare Diseases, 60UMLS, 20GeneTests
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Aliases & Descriptions:

cataract microcornea syndrome 42 60
microcornea cataract syndrome 42 20


Related Diseases for Cataract Microcornea Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Cataract Microcornea Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cataract30.7MAF, GJA8, CRYBB1, CRYAA
2cataract 1, multiple types10.3
3cataract 13 with adult i phenotype10.1
4cataract 9, multiple types10.1
5microphthalmia10.0GJA8, CRYAA
6cataract 4, multiple types10.0CRYAA, GJA8
7cataracts, autosomal dominant10.0CRYBB1, GJA8, CRYAA
8senile cataract10.0CRYBB1, CRYAA, GJA8
9cataract, congenital10.0GJA8, MAF, CRYAA, CRYBB1

Graphical network of diseases related to Cataract Microcornea Syndrome:



Diseases related to cataract microcornea syndrome

Clinical Features for Cataract Microcornea Syndrome

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Drugs & Therapeutics for Cataract Microcornea Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Cataract Microcornea Syndrome

Drug clinical trials:

Search ClinicalTrials for Cataract Microcornea Syndrome

Search NIH Clinical Center for Cataract Microcornea Syndrome

Search CenterWatch for Cataract Microcornea Syndrome

Genetic Tests for Cataract Microcornea Syndrome

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20GeneTests
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Genetic tests related to Cataract Microcornea Syndrome:

id Genetic test Affiliating Genes
1 Cataract-Microcornea Syndrome20 GJA8

Anatomical Context for Cataract Microcornea Syndrome

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Animal Models for Cataract Microcornea Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Cataract Microcornea Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.6GJA8, MAF, CRYAA

Publications for Cataract Microcornea Syndrome

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Genetic Variations for Cataract Microcornea Syndrome

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Expression for genes affiliated with Cataract Microcornea Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cataract Microcornea Syndrome

Search GEO for disease gene expression data for Cataract Microcornea Syndrome.

Pathways for genes affiliated with Cataract Microcornea Syndrome

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Compounds for genes affiliated with Cataract Microcornea Syndrome

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44Novoseek
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Compounds related to Cataract Microcornea Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1valine449.1GJA8, CRYAA

GO Terms for genes affiliated with Cataract Microcornea Syndrome

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16Gene Ontology
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Biological processes related to Cataract Microcornea Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein homooligomerizationGO:0512609.1GJA8, CRYAA
2visual perceptionGO:0076018.2GJA8, CRYAA, CRYBB1

Molecular functions related to Cataract Microcornea Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of eye lensGO:0052129.0CRYAA, CRYBB1

Products for genes affiliated with Cataract Microcornea Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cataract Microcornea Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet