MCID: PLM125

Pilomatricoma, Somatic malady

Genetic diseases (common) category
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Summaries for Pilomatricoma, Somatic

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

Description from OMIM:46 132600

Aliases & Classifications for Pilomatricoma, Somatic

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Pilomatricoma, Somatic, Aliases & Descriptions:

Name: Pilomatricoma, Somatic 46


Classifications:

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


Related Diseases for Pilomatricoma, Somatic

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Symptoms for Pilomatricoma, Somatic

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Clinical features from OMIM:

132600

Drugs & Therapeutics for Pilomatricoma, Somatic

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Drug clinical trials:

Search ClinicalTrials for Pilomatricoma, Somatic

Search NIH Clinical Center for Pilomatricoma, Somatic

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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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

Clinvar genetic disease variations for Pilomatricoma, Somatic:

6
id Gene Name Type Significance SNP ID Assembly Location
1CTNNB1NM_001904.3(CTNNB1): c.95A> G (p.Asp32Gly)single nucleotide variantLikely pathogenicrs121913396GRCh37Chr 3, 41266098: 41266098
2CTNNB1NM_001904.3(CTNNB1): c.94G> T (p.Asp32Tyr)single nucleotide variantPathogenicrs28931588GRCh37Chr 3, 41266097: 41266097
3CTNNB1NM_001904.3(CTNNB1): c.98C> T (p.Ser33Phe)single nucleotide variantPathogenicrs121913400GRCh37Chr 3, 41266101: 41266101
4CTNNB1NM_001904.3(CTNNB1): c.101G> A (p.Gly34Glu)single nucleotide variantPathogenicrs28931589GRCh37Chr 3, 41266104: 41266104
5CTNNB1NM_001904.3(CTNNB1): c.110C> T (p.Ser37Phe)single nucleotide variantPathogenicrs121913403GRCh37Chr 3, 41266113: 41266113
6CTNNB1NM_001904.3(CTNNB1): c.122C> T (p.Thr41Ile)single nucleotide variantPathogenicrs121913413GRCh37Chr 3, 41266125: 41266125

Expression for genes affiliated with Pilomatricoma, Somatic

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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

Sources for Pilomatricoma, Somatic

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet