MCID: CTR134
MIFTS: 14

Cataract 23 malady

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

Summaries for Cataract 23

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OMIM:46 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 46


Classifications:



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:

63
id Symbol AA change Variation ID SNP ID
1CRYBA4p.Leu69ProVAR_029528
2CRYBA4p.Phe94SerVAR_029529

Clinvar genetic disease variations for Cataract 23:

7
id Gene Name 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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Expression patterns in normal tissues for genes affiliated with Cataract 23

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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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