hereditary nonpolyposis colorectal cancer type 6

Summary
Synonym
  • HNPCC6
Definition
A Lynch syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p22.
Super Class
Lynch syndrome
Disease Ontology
DOID:0070273
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7048 TGFBR2 transforming growth factor beta receptor 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
21813 Tgfbr2 transforming growth factor, beta receptor II
Displaying 1 entry
Gene ID Gene Symbol Description Source
81810 Tgfbr2 transforming growth factor, beta receptor 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
175781 daf-4 Cell surface receptor daf-4;Serine/threonine-protein kinase receptor;receptor protein serine/threonine kinase
The Human Phenotype Ontology
Displaying entries 31 - 40 of 62 in total
HPO ID HPO Term
HP:0003002 Breast carcinoma
HP:0003003 Colon cancer
HP:0003006 Neuroblastoma
HP:0003401 Paresthesia
HP:0004374 Hemiplegia/hemiparesis
HP:0004377 Hematological neoplasm
HP:0006725 Pancreatic adenocarcinoma
HP:0006753 Neoplasm of the stomach
HP:0006758 Malignant genitourinary tract tumor
HP:0007018 Attention deficit hyperactivity disorder
Displaying all 2 entries
Gene ID Gene Symbol Description
3845 KRAS KRAS proto-oncogene, GTPase
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024