trichohepatoenteric syndrome 1

Summary
Synonym
  • THES1
Definition
A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TTC37 gene on chromosome 5q15.
Super Class
trichohepatoenteric syndrome
External Links
Disease Ontology
DOID:0111415
Mondo Disease Ontology
OMIM
Related Genes
Displaying entries 41 - 50 of 51 in total
Gene ID Gene Symbol Description Source
9469 CHST3 carbohydrate sulfotransferase 3
9663 LPIN2 lipin 2
10555 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
11285 B4GALT7 beta-1,4-galactosyltransferase 7
54658 UGT1A1 UDP glucuronosyltransferase family 1 member A1
55750 AGK acylglycerol kinase
57704 GBA2 glucosylceramidase beta 2
60495 HPSE2 heparanase 2 (inactive)
64132 XYLT2 xylosyltransferase 2
145173 B3GLCT beta 3-glucosyltransferase

About Release Notes Help Feedback

International Collaboration

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024