MCID: PST051
MIFTS: 10

Posterior Polar Cataract 2 malady

Genetic diseases, Eye diseases, Rare diseases categories
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Summaries for Posterior Polar Cataract 2

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Sources:
33MalaCards
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MalaCards: Posterior Polar Cataract 2 An important gene associated with Posterior Polar Cataract 2 is CRYAB (crystallin, alpha B).

Aliases & Classifications for Posterior Polar Cataract 2

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20GeneTests, 22GTR
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Classifications:

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


Aliases & Descriptions:

posterior polar cataract 2 20 22


Related Diseases for Posterior Polar Cataract 2

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Symptoms for Posterior Polar Cataract 2

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Drugs & Therapeutics for Posterior Polar Cataract 2

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

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Search NIH Clinical Center for Posterior Polar Cataract 2

Genetic Tests for Posterior Polar Cataract 2

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Posterior Polar Cataract 2:

id Genetic test Affiliating Genes
1 Posterior Polar Cataract 220 CRYAB
2 Posterior Polar Cataract Type 222

Anatomical Context for Posterior Polar Cataract 2

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Animal Models for Posterior Polar Cataract 2 or affiliated genes

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Publications for Posterior Polar Cataract 2

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Variations for Posterior Polar Cataract 2

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Posterior Polar Cataract 2:

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

Expression for genes affiliated with Posterior Polar Cataract 2

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Posterior Polar Cataract 2

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Pathways for genes affiliated with Posterior Polar Cataract 2

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Compounds for genes affiliated with Posterior Polar Cataract 2

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GO Terms for genes affiliated with Posterior Polar Cataract 2

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Products for genes affiliated with Posterior Polar Cataract 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Posterior Polar Cataract 2

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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