MCID: PLM125

Pilomatricoma, Somatic malady

Genetic diseases (common) category

Summaries for Pilomatricoma, Somatic

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Sources:
48OMIM, 34MalaCards
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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:48 132600

Aliases & Classifications for Pilomatricoma, Somatic

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Sources:
48OMIM
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Classifications:

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


Aliases & Descriptions:

pilomatricoma, somatic 48


Related Diseases for Pilomatricoma, Somatic

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Symptoms for Pilomatricoma, Somatic

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Sources:
48OMIM
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Clinical features from OMIM:

132600

Drugs & Therapeutics for Pilomatricoma, Somatic

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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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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Sources:
65UniProtKB/Swiss-Prot, 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Pilomatricoma, Somatic:

65
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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Sources:
2BioGPS, 16Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet