MCID: XRD004
MIFTS: 10

Xeroderma Pigmentosum, Type 1 malady

Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Cancer diseases categories

Summaries for Xeroderma Pigmentosum, Type 1

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MalaCards based summary: Xeroderma Pigmentosum, Type 1 An important gene associated with Xeroderma Pigmentosum, Type 1 is XPA (xeroderma pigmentosum, complementation group A).

Aliases & Classifications for Xeroderma Pigmentosum, Type 1

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Xeroderma Pigmentosum, Type 1, Aliases & Descriptions:

Name: Xeroderma Pigmentosum, Type 1 42 23


Classifications:



Related Diseases for Xeroderma Pigmentosum, Type 1

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Symptoms for Xeroderma Pigmentosum, Type 1

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Drugs & Therapeutics for Xeroderma Pigmentosum, Type 1

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Drug clinical trials:

Search ClinicalTrials for Xeroderma Pigmentosum, Type 1

Search NIH Clinical Center for Xeroderma Pigmentosum, Type 1

Genetic Tests for Xeroderma Pigmentosum, Type 1

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Genetic tests related to Xeroderma Pigmentosum, Type 1:

id Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Type 123

Anatomical Context for Xeroderma Pigmentosum, Type 1

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Animal Models for Xeroderma Pigmentosum, Type 1 or affiliated genes

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Publications for Xeroderma Pigmentosum, Type 1

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Variations for Xeroderma Pigmentosum, Type 1

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Clinvar genetic disease variations for Xeroderma Pigmentosum, Type 1:

7
id Gene Name Type Significance SNP ID Assembly Location
1XPANM_000380.3(XPA): c.323G> T (p.Cys108Phe)single nucleotide variantPathogenicrs104894131GRCh37Chr 9, 100451882: 100451882
2XPANM_000380.3(XPA): c.682C> T (p.Arg228Ter)single nucleotide variantPathogenicrs104894132GRCh37Chr 9, 100437861: 100437861
3XPANM_000380.3(XPA): c.619C> T (p.Arg207Ter)single nucleotide variantPathogenicrs104894133GRCh37Chr 9, 100447259: 100447259
4XPANM_000380.3(XPA): c.348T> A (p.Tyr116Ter)single nucleotide variantPathogenicrs104894134GRCh37Chr 9, 100451857: 100451857

Expression for genes affiliated with Xeroderma Pigmentosum, Type 1

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Expression patterns in normal tissues for genes affiliated with Xeroderma Pigmentosum, Type 1

Search GEO for disease gene expression data for Xeroderma Pigmentosum, Type 1.

Pathways for genes affiliated with Xeroderma Pigmentosum, Type 1

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Compounds for genes affiliated with Xeroderma Pigmentosum, Type 1

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GO Terms for genes affiliated with Xeroderma Pigmentosum, Type 1

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Products for genes affiliated with Xeroderma Pigmentosum, Type 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Xeroderma Pigmentosum, Type 1

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet