MCID: CTR134
MIFTS: 13

Cataract 23 malady

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

Aliases & Classifications for Cataract 23

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Aliases & Descriptions for Cataract 23:

Name: Cataract 23 46


Classifications:



External Ids:

OMIM46 610425

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).

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:

5
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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Sources for Cataract 23

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet