Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
Resources Genes Glycoproteins Lectins Glycolipids Glycans Pathways Diseases Organisms
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Other Information
Release Statistics Download
Tools
SugarDrawer GlycanBuilder Glycan Converters GlycoMaple GlycomeAtlas LM-GlycomeAtlas GALAXY MCAW GlycoSim GRable
Search Tools
Cross Search Glycan Search Publication Search Programmatic Access
Standards Ontologies Notations
arthrogryposis multiplex congenita-5

Summary
Definition
An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the TOR1A gene on chromosome 9q34.
Super Class
arthrogryposis multiplex congenita
Disease Ontology
DOID:0080981
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1861 TOR1A torsin family 1 member A
Displaying 1 entry
Gene ID Gene Symbol Description Source
30931 Tor1a torsin family 1, member A (torsin A)
Displaying 1 entry
Gene ID Gene Symbol Description Source
266606 Tor1a torsin family 1, member A
Displaying 1 entry
Gene ID Gene Symbol Description Source
31399 Torsin torsin
Displaying 1 entry
Gene ID Gene Symbol Description Source
174433 ooc-5 Torsin-like protein
The Human Phenotype Ontology
Displaying entries 51 - 57 of 57 in total
HPO ID HPO Term
HP:0008081 Pes valgus
HP:0010501 Limitation of knee mobility
HP:0010864 Intellectual disability, severe
HP:0011471 Gastrostomy tube feeding in infancy
HP:0012385 Camptodactyly
HP:0012408 Medullary nephrocalcinosis
HP:0100678 Premature skin wrinkling
Displaying 1 entry
Gene ID Gene Symbol Description
1861 TOR1A torsin family 1 member A
About Release Notes Help Feedback

Click here to visit the beta site.

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 v4.1.0

Last updated: December 9, 2024