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Standards Ontologies Notations
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 41 - 50 of 62 in total
HPO ID HPO Term
HP:0007256 Abnormal pyramidal sign
HP:0008069 Neoplasm of the skin
HP:0009720 Adenoma sebaceum
HP:0009726 Renal neoplasm
HP:0010524 Disturbed sensory perception
HP:0010526 Dysgraphia
HP:0010622 Neoplasm of the skeletal system
HP:0010786 Urinary tract neoplasm
HP:0012114 Endometrial carcinoma
HP:0012118 Laryngeal carcinoma
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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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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