MCID: CTR134
MIFTS: 13

Cataract 23 malady

Genetic diseases, Rare diseases, Eye diseases, Fetal diseases categories

Summaries for Cataract 23

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OMIM:45 Mutation in the CRYBA4 gene has been found in families with cataract described as congenital and congenital lamellar. (610425) more...

MalaCards based summary: Cataract 23 is related to cataract, and has symptoms including autosomal dominant inheritanceand lamellar cataract. An important gene associated with Cataract 23 is CRYBA4 (crystallin, beta A4).

Aliases & Classifications for Cataract 23

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Cataract 23, Aliases & Descriptions:

Name: Cataract 23 45


Classifications:

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


External Ids:

OMIM45 610425

Related Diseases for Cataract 23

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Symptoms for Cataract 23

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Clinical features from OMIM:

610425

HPO human phenotypes related to Cataract 23:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 lamellar cataract HP:0007971

Drugs & Therapeutics for Cataract 23

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Drug clinical trials:

Search ClinicalTrials for Cataract 23

Search NIH Clinical Center for Cataract 23

Genetic Tests for Cataract 23

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Anatomical Context for Cataract 23

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Animal Models for Cataract 23 or affiliated genes

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Publications for Cataract 23

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Variations for Cataract 23

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UniProtKB/Swiss-Prot genetic disease variations for Cataract 23:

62
id Symbol AA change Variation ID SNP ID
1CRYBA4p.Leu69ProVAR_029528
2CRYBA4p.Phe94SerVAR_029529

Clinvar genetic disease variations for Cataract 23:

6
id Gene Variation Type Significance SNP ID Assembly Location
1CRYBA4NM_001886.2(CRYBA4): c.281T> C (p.Phe94Ser)single nucleotide variantPathogenicrs74315486GRCh37Chr 22, 27021567: 27021567
2CRYBA4NM_001886.2(CRYBA4): c.206T> C (p.Leu69Pro)single nucleotide variantPathogenicrs74315487GRCh37Chr 22, 27021492: 27021492

Expression for genes affiliated with Cataract 23

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Search GEO for disease gene expression data for Cataract 23.

Pathways for genes affiliated with Cataract 23

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Compounds for genes affiliated with Cataract 23

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GO Terms for genes affiliated with Cataract 23

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Products for genes affiliated with Cataract 23

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

Sources for Cataract 23

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet