MCID: CLR037
MIFTS: 15

Colorectal Cancer, Hereditary Nonpolyposis, Type 5 malady

Genetic diseases (common), Cancer diseases categories

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

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Aliases & Descriptions for Colorectal Cancer, Hereditary Nonpolyposis, Type 5:

Name: Colorectal Cancer, Hereditary Nonpolyposis, Type 5 46 9 22


Classifications:



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OMIM46 614350

Summaries for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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MalaCards based summary: Colorectal Cancer, Hereditary Nonpolyposis, Type 5 and has symptoms including autosomal dominant inheritance, hereditary nonpolyposis colorectal carcinoma and endometrial carcinoma. An important gene associated with Colorectal Cancer, Hereditary Nonpolyposis, Type 5 is MSH6 (mutS homolog 6).

Description from OMIM:46 614350

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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Clinical features from OMIM:

614350

HPO human phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 5:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hereditary nonpolyposis colorectal carcinoma HP:0006716
3 endometrial carcinoma HP:0012114

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

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Drug clinical trials:

Search ClinicalTrials for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

Search NIH Clinical Center for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

Genetic Tests for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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Genetic tests related to Colorectal Cancer, Hereditary Nonpolyposis, Type 5:

id Genetic test Affiliating Genes
1 Hereditary Nonpolyposis Colorectal Cancer Type 522

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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UniProtKB/Swiss-Prot genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 5:

63
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:

5
id Gene Variation 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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Search GEO for disease gene expression data for Colorectal Cancer, Hereditary Nonpolyposis, Type 5.

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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Sources for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet