MCID: PLM125

Pilomatricoma, Somatic malady

Genetic diseases (common) category
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Summaries for Pilomatricoma, Somatic

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47OMIM, 33MalaCards
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MalaCards: Pilomatricoma, Somatic An important gene associated with Pilomatricoma, Somatic is CTNNB1 (catenin (cadherin-associated protein), beta 1, 88kDa).

Description from OMIM:47 132600

Aliases & Classifications for Pilomatricoma, Somatic

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47OMIM
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Classifications:

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


Aliases & Descriptions:

pilomatricoma, somatic 47


Related Diseases for Pilomatricoma, Somatic

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Symptoms for Pilomatricoma, Somatic

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47OMIM
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Clinical features from OMIM:

132600

Drugs & Therapeutics for Pilomatricoma, Somatic

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Pilomatricoma, Somatic

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Anatomical Context for Pilomatricoma, Somatic

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Animal Models for Pilomatricoma, Somatic or affiliated genes

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Publications for Pilomatricoma, Somatic

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Variations for Pilomatricoma, Somatic

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64UniProtKB/Swiss-Prot, 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Pilomatricoma, Somatic:

64
id Symbol AA change Variation ID SNP ID
1CTNNB1p.Asp32GlyVAR_017615
2CTNNB1p.Asp32TyrVAR_017616rs28931588
3CTNNB1p.Ser33PheVAR_017617
4CTNNB1p.Ser33TyrVAR_017619
5CTNNB1p.Gly34GluVAR_017620
6CTNNB1p.Ser37CysVAR_017625
7CTNNB1p.Ser37PheVAR_017626
8CTNNB1p.Thr41IleVAR_017630

Expression for genes affiliated with Pilomatricoma, Somatic

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pilomatricoma, Somatic

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Pathways for genes affiliated with Pilomatricoma, Somatic

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Compounds for genes affiliated with Pilomatricoma, Somatic

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GO Terms for genes affiliated with Pilomatricoma, Somatic

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Products for genes affiliated with Pilomatricoma, Somatic

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pilomatricoma, Somatic

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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