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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **14951 - 14975** of **15957** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism	Source
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	b3galt6	572324	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	B3galt6	298690	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	B3GALT6	126792	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	sqv-2	173635	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0112199	spondyloepimetaphyseal dysplasia with joint laxity type 2 Aliases: SEMD-MD SEMDJL2 spondyloepimetaphyseal dysplasia with joint laxicity, Hall type spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type	KIF22	3835	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112199	spondyloepimetaphyseal dysplasia with joint laxity type 2 Aliases: SEMD-MD SEMDJL2 spondyloepimetaphyseal dysplasia with joint laxicity, Hall type spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type	Kif22	110033	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080027	spondyloepimetaphyseal dysplasia	col2a1	394828	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0080027	spondyloepimetaphyseal dysplasia	Col2a1	25412	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080027	spondyloepimetaphyseal dysplasia	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080027	spondyloepimetaphyseal dysplasia	Col2a1	12824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080576	spondyloepimetaphyseal dysplasia, Genevieve-type	Nans	94181	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080576	spondyloepimetaphyseal dysplasia, Genevieve-type	NANS	41528	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080576	spondyloepimetaphyseal dysplasia, Genevieve-type	NANS	54187	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080030	spondyloepimetaphyseal dysplasia, Missouri type	zmp-3	178748	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080030	spondyloepimetaphyseal dysplasia, Missouri type	Mmp13	17386	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080030	spondyloepimetaphyseal dysplasia, Missouri type	MMP13	4322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050812	spondyloepimetaphyseal dysplasia, Pakistani type Aliases: spondyloepimetaphyseal dysplasia Pakistani type	PAPSS2	9060	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:5684	spondyloepimetaphyseal dysplasia, Sponastrime type Aliases: Spondylar and nasal Alterations-Striated Metaphyses syndrome sponastrime dysplasia	TONSL	4796	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080028	spondyloepimetaphyseal dysplasia, Strudwick type	Col2a1	12824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080028	spondyloepimetaphyseal dysplasia, Strudwick type	Col2a1	25412	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080028	spondyloepimetaphyseal dysplasia, Strudwick type	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080028	spondyloepimetaphyseal dysplasia, Strudwick type	col2a1	394828	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0080028	spondyloepimetaphyseal dysplasia, Strudwick type	col2a1.L	397738	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0112282	spondyloepiphyseal dysplasia Kimberley type Aliases: SEDK	ACAN	176	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112282	spondyloepiphyseal dysplasia Kimberley type Aliases: SEDK	Acan	11595	Mus musculus (house mouse)	Alliance of Genome Resources

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