cataract 45

Summary
Synonym
  • CTRCT45
Definition
A cataract that has_material_basis_in homozygous mutation in the SIPA1L3 gene on chromosome 19q13.
Super Class
autosomal recessive disease cataract
External Links
Disease Ontology
DOID:0110262
Mondo Disease Ontology
OMIM
Related Genes
Displaying entries 1 - 10 of 13 in total
Gene ID Gene Symbol Description Source
501 ALDH7A1 aldehyde dehydrogenase 7 family member A1
1593 CYP27A1 cytochrome P450 family 27 subfamily A member 1
2262 GPC5 glypican 5
2584 GALK1 galactokinase 1
2651 GCNT2 glucosaminyl (N-acetyl) transferase 2 (I blood group)
4047 LSS lanosterol synthase
4952 OCRL OCRL inositol polyphosphate-5-phosphatase
5728 PTEN phosphatase and tensin homolog
6652 SORD sorbitol dehydrogenase
9197 SLC33A1 solute carrier family 33 member 1

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