MCID: CTR113
MIFTS: 13

Cataract 11, Multiple Types malady

Genetic diseases, Eye diseases, Rare diseases, Cancer diseases, Fetal diseases, Oral diseases categories

Summaries for Cataract 11, Multiple Types

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OMIM:46 Mutations in the PITX3 gene have been found to cause multiple types of cataract, which have been described as...610623 more...

MalaCards based summary: Cataract 11, Multiple Types and has symptoms including autosomal dominant inheritance An important gene associated with Cataract 11, Multiple Types is PITX3 (paired-like homeodomain 3).

Aliases & Classifications for Cataract 11, Multiple Types

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Cataract 11, Multiple Types, Aliases & Descriptions:

Name: Cataract 11, Multiple Types 46


Classifications:



Related Diseases for Cataract 11, Multiple Types

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Symptoms for Cataract 11, Multiple Types

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Symptoms by clinical synopsis from OMIM:

610623

Clinical features from OMIM:

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HPO human phenotypes related to Cataract 11, Multiple Types:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006

Drugs & Therapeutics for Cataract 11, Multiple Types

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Drug clinical trials:

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Search NIH Clinical Center for Cataract 11, Multiple Types

Genetic Tests for Cataract 11, Multiple Types

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Anatomical Context for Cataract 11, Multiple Types

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Animal Models for Cataract 11, Multiple Types or affiliated genes

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Publications for Cataract 11, Multiple Types

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Variations for Cataract 11, Multiple Types

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UniProtKB/Swiss-Prot genetic disease variations for Cataract 11, Multiple Types:

63
id Symbol AA change Variation ID SNP ID
1PITX3p.Ser13AsnVAR_003767

Expression for genes affiliated with Cataract 11, Multiple Types

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Expression patterns in normal tissues for genes affiliated with Cataract 11, Multiple Types

Search GEO for disease gene expression data for Cataract 11, Multiple Types.

Pathways for genes affiliated with Cataract 11, Multiple Types

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Compounds for genes affiliated with Cataract 11, Multiple Types

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GO Terms for genes affiliated with Cataract 11, Multiple Types

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Products for genes affiliated with Cataract 11, Multiple Types

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Cataract 11, Multiple Types

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet