MCID: CTR039
MIFTS: 24

Cataracts, Autosomal Dominant malady

Genetic diseases, Rare diseases, Eye diseases, Fetal diseases categories
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Summaries for Cataracts, Autosomal Dominant

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MalaCards based summary: Cataracts, Autosomal Dominant, also known as cataract, autosomal dominant, is related to cataract and optic atrophy and cataract, autosomal dominant. An important gene associated with Cataracts, Autosomal Dominant is PITX3 (paired-like homeodomain 3). The compound valine have been mentioned in the context of this disorder. Related mouse phenotype vision/eye.

Aliases & Classifications for Cataracts, Autosomal Dominant

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Sources:
20GeneTests, 22GTR, 44Novoseek
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Cataracts, Autosomal Dominant, Aliases & Descriptions:

Name: Cataracts, Autosomal Dominant 20 22
 
Cataract, Autosomal Dominant 44


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases


Related Diseases for Cataracts, Autosomal Dominant

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Graphical network of diseases related to Cataracts, Autosomal Dominant:



Diseases related to cataracts, autosomal dominant

Symptoms for Cataracts, Autosomal Dominant

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Drugs & Therapeutics for Cataracts, Autosomal Dominant

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Drug clinical trials:

Search ClinicalTrials for Cataracts, Autosomal Dominant

Search NIH Clinical Center for Cataracts, Autosomal Dominant

Genetic Tests for Cataracts, Autosomal Dominant

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Genetic tests related to Cataracts, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Cataracts, Autosomal Dominant20 22 PITX3
2 Cataract, Autosomal Dominant22

Anatomical Context for Cataracts, Autosomal Dominant

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Animal Models for Cataracts, Autosomal Dominant or affiliated genes

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MGI Mouse Phenotypes related to Cataracts, Autosomal Dominant:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.2GJA8, CRYAA, CRYBB2, PITX3

Publications for Cataracts, Autosomal Dominant

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Variations for Cataracts, Autosomal Dominant

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Expression for genes affiliated with Cataracts, Autosomal Dominant

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Expression patterns in normal tissues for genes affiliated with Cataracts, Autosomal Dominant

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Pathways for genes affiliated with Cataracts, Autosomal Dominant

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Compounds for genes affiliated with Cataracts, Autosomal Dominant

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Sources:
44Novoseek
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Compounds related to Cataracts, Autosomal Dominant according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1valine449.4GJA8, CRYAA

GO Terms for genes affiliated with Cataracts, Autosomal Dominant

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Biological processes related to Cataracts, Autosomal Dominant according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein homooligomerizationGO:0512609.4GJA8, CRYAA
2lens development in camera-type eyeGO:0020889.2GJA8, PITX3
3visual perceptionGO:0076017.9GJA8, CRYBB1, CRYAA, CRYBB2

Molecular functions related to Cataracts, Autosomal Dominant according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:0428029.1CRYAA, CRYBB2
2structural constituent of eye lensGO:0052128.2CRYBB1, CRYAA, CRYBB2

Products for genes affiliated with Cataracts, Autosomal Dominant

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  • Antibodies
  • Proteins
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Sources for Cataracts, Autosomal Dominant

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet