MCID: CTR115
MIFTS: 14

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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Sources:
47OMIM, 33MalaCards
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MalaCards: Cataract 16, Multiple Types, is also known as congenital total cataract An important gene associated with Cataract 16, Multiple Types is CRYAB (crystallin, alpha B).

Description from OMIM:47 613763

Aliases & Classifications for Cataract 16, Multiple Types

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47OMIM, 62UMLS
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Classifications:



Aliases & Descriptions:

cataract 16, multiple types 47
congenital total cataract 62


Symptoms for Cataract 16, Multiple Types

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47OMIM
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Symptoms by clinical synopsis from OMIM:

613763

Clinical features from OMIM:

613763

Drugs & Therapeutics for Cataract 16, Multiple Types

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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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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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Cataract 16, Multiple Types:

1
id Gene Name Type Significance SNP ID Assembly Location
1CRYABCRYAB, 1-BP DEL, 450AdeletionPathogenic/card/cataract_16_multiple_types
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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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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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
  • Antibodies

Sources for Cataract 16, Multiple Types

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet