Stickler syndrome 1

Summary
Definition
A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.
Super Class
Stickler syndrome autosomal dominant disease
Disease Ontology
DOID:0080676
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1280 COL2A1 collagen type II alpha 1 chain
Displaying 1 entry
Gene ID Gene Symbol Description Source
12824 Col2a1 collagen, type II, alpha 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
25412 Col2a1 collagen type II alpha 1 chain
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
394828 col2a1 collagen, type II, alpha 1 Xenopus tropicalis (tropical clawed frog)
397738 col2a1.L collagen, type II, alpha 1 L homeolog Xenopus laevis (African clawed frog)

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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