MCID: XRD004

Xeroderma Pigmentosum, Type 1 malady

Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Cancer diseases categories
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Summaries for Xeroderma Pigmentosum, Type 1

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Aliases & Classifications for Xeroderma Pigmentosum, Type 1

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Sources:
43NIH Rare Diseases, 22GTR
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Classifications:



Aliases & Descriptions:

xeroderma pigmentosum, type 1 43 22


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

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Search NIH Clinical Center for Xeroderma Pigmentosum, Type 1

Genetic Tests for Xeroderma Pigmentosum, Type 1

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Sources:
22GTR
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Genetic tests related to Xeroderma Pigmentosum, Type 1:

id Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Type 122

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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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Xeroderma Pigmentosum, Type 1:

1
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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Sources:
15Gene Expression Omnibus DataSets
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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

Sources for Xeroderma Pigmentosum, Type 1

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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