MCID: ALP031
MIFTS: 10

Alpha-B Crystallinopathy malady

Genetic diseases (common) category
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Summaries for Alpha-B Crystallinopathy

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Sources:
33MalaCards
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MalaCards: Alpha-B Crystallinopathy, also known as myopathy, myofibrillar, 2, mfm2, is related to myopathy, myofibrillar, 1. An important gene associated with Alpha-B Crystallinopathy is CRYAB (crystallin, alpha B).

Aliases & Classifications for Alpha-B Crystallinopathy

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Sources:
20GeneTests, 22GTR, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

alpha-b crystallinopathy 20 22
myopathy, myofibrillar, 2, mfm2 62


Related Diseases for Alpha-B Crystallinopathy

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Alpha-B Crystallinopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1myopathy, myofibrillar, 110.3

Symptoms for Alpha-B Crystallinopathy

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Drugs & Therapeutics for Alpha-B Crystallinopathy

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

Search ClinicalTrials for Alpha-B Crystallinopathy

Search NIH Clinical Center for Alpha-B Crystallinopathy

Genetic Tests for Alpha-B Crystallinopathy

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Alpha-B Crystallinopathy:

id Genetic test Affiliating Genes
1 Alpha-B Crystallinopathy20 22 CRYAB

Anatomical Context for Alpha-B Crystallinopathy

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Animal Models for Alpha-B Crystallinopathy or affiliated genes

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Publications for Alpha-B Crystallinopathy

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Variations for Alpha-B Crystallinopathy

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Alpha-B Crystallinopathy:

1
id Gene Name Type Significance SNP ID Assembly Location
1CRYABNM_001885.2(CRYAB): c.358A> G (p.Arg120Gly)single nucleotide variantPathogenicrs104894201GRCh37Chr 11, 111779658: 111779658
2CRYABNM_001885.2(CRYAB): c.451C> T (p.Gln151Ter)single nucleotide variantPathogenicrs104894202GRCh37Chr 11, 111779565: 111779565
3CRYABNM_001885.2(CRYAB): c.60delC (p.Ser21Alafs)deletionPathogenicrs281865141GRCh37Chr 11, 111782389: 111782389
4CRYABNM_001885.2(CRYAB): c.343delT (p.Ser115Profs)deletionPathogenicrs281865142GRCh37Chr 11, 111779673: 111779673
5CRYABNM_001885.2(CRYAB): c.325G> C (p.Asp109His)single nucleotide variantPathogenicrs387907339GRCh37Chr 11, 111779691: 111779691

Expression for genes affiliated with Alpha-B Crystallinopathy

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Alpha-B Crystallinopathy

Search GEO for disease gene expression data for Alpha-B Crystallinopathy.

Pathways for genes affiliated with Alpha-B Crystallinopathy

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Compounds for genes affiliated with Alpha-B Crystallinopathy

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GO Terms for genes affiliated with Alpha-B Crystallinopathy

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Products for genes affiliated with Alpha-B Crystallinopathy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alpha-B Crystallinopathy

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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