MCID: CLR037

Colorectal Cancer, Hereditary Nonpolyposis, Type 5 malady

Genetic diseases, Cancer diseases, Gastrointestinal diseases, Rare diseases categories

Summaries for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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48OMIM, 34MalaCards
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MalaCards: Colorectal Cancer, Hereditary Nonpolyposis, Type 5 An important gene associated with Colorectal Cancer, Hereditary Nonpolyposis, Type 5 is MSH6 (mutS homolog 6).

Description from OMIM:48 614350

Aliases & Classifications for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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48OMIM
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Classifications:



Aliases & Descriptions:

colorectal cancer, hereditary nonpolyposis, type 5 48


Related Diseases for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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Symptoms for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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48OMIM
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Clinical features from OMIM:

614350

Drugs & Therapeutics for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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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 Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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Anatomical Context for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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Animal Models for Colorectal Cancer, Hereditary Nonpolyposis, Type 5 or affiliated genes

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Publications for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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Variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 5:

65
id Symbol AA change Variation ID SNP ID
1MSH6p.Ala20ValVAR_043943rs63750664
2MSH6p.Arg772TrpVAR_043958
3MSH6p.Glu1163ValVAR_043969rs63750252

Clinvar genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 5:

1
id Gene Name Type Significance SNP ID Assembly Location
1MSH6MSH6, 1-BP DEL, LEU222TERdeletionPathogenic
2MSH6MSH6, 1-BP DEL, 594TdeletionPathogenic
3MSH6NM_000179.2(MSH6): c.1602delC (p.Tyr535Thrfs)deletionPathogenicrs63751234GRCh37Chr 2, 48026724: 48026724

Expression for genes affiliated with Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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Pathways for genes affiliated with Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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Compounds for genes affiliated with Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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GO Terms for genes affiliated with Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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Products for genes affiliated with Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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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