MCID: CTR115
MIFTS: 13

Cataract 16, Multiple Types malady

Genetic diseases, Eye diseases, Rare diseases, Cancer diseases, Fetal diseases, Oral diseases categories
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Summaries for Cataract 16, Multiple Types

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MalaCards based summary: Cataract 16, Multiple Types and has symptoms including An important gene associated with Cataract 16, Multiple Types is CRYAB (crystallin, alpha B).

Description from OMIM:46 613763

Aliases & Classifications for Cataract 16, Multiple Types

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Cataract 16, Multiple Types, Aliases & Descriptions:

Name: Cataract 16, Multiple Types 46


Classifications:



Symptoms for Cataract 16, Multiple Types

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Symptoms by clinical synopsis from OMIM:

613763

Clinical features from OMIM:

613763

HPO human phenotypes related to Cataract 16, Multiple Types:

id Description Frequency HPO Source Accession
1 congenital cataract rare (5%) HP:0000519
2 retinal dystrophy rare (5%) HP:0000556
3 autosomal dominant inheritance HP:0000006
4 autosomal recessive inheritance HP:0000007
5 posterior polar cataract HP:0001115

Drugs & Therapeutics for Cataract 16, Multiple Types

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Drug clinical trials:

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Search NIH Clinical Center for Cataract 16, Multiple Types

Genetic Tests for Cataract 16, Multiple Types

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Anatomical Context for Cataract 16, Multiple Types

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Animal Models for Cataract 16, Multiple Types or affiliated genes

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Publications for Cataract 16, Multiple Types

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Variations for Cataract 16, Multiple Types

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Clinvar genetic disease variations for Cataract 16, Multiple Types:

6
id Gene Name Type Significance SNP ID Assembly Location
1CRYABCRYAB, 1-BP DEL, 450AdeletionPathogenic
2CRYABNM_001885.2(CRYAB): c.418G> A (p.Asp140Asn)single nucleotide variantPathogenicrs387907336GRCh37Chr 11, 111779598: 111779598
3CRYABNM_001885.2(CRYAB): c.58C> T (p.Pro20Ser)single nucleotide variantPathogenicrs387907337GRCh37Chr 11, 111782391: 111782391
4CRYABNM_001885.2(CRYAB): c.166C> T (p.Arg56Trp)single nucleotide variantPathogenicrs387907338GRCh37Chr 11, 111782283: 111782283

Expression for genes affiliated with Cataract 16, Multiple Types

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Expression patterns in normal tissues for genes affiliated with Cataract 16, Multiple Types

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Pathways for genes affiliated with Cataract 16, Multiple Types

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Compounds for genes affiliated with Cataract 16, Multiple Types

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GO Terms for genes affiliated with Cataract 16, Multiple Types

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Products for genes affiliated with Cataract 16, Multiple Types

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  • Antibodies
  • Proteins
  • Lysates

Sources for Cataract 16, Multiple Types

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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