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MIRAGE
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
ORDO
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1280 COL2A1 collagen type II alpha 1 chain
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P02458 Collagen alpha-1(II) chain
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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: April 7, 2025