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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 **15001 - 15025** of **15957** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism	Source
DOID:0112196	spondylometaepiphyseal dysplasia, short limb-hand type Aliases: SMED short limb-abnormal calcification type SMED short limb-hand type SMED type 2 SMED, type II SMED-SL SMED-SL/AC spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome spondylometaepiphyseal dysplasia short limb-hand type	Ddr2	18214	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112196	spondylometaepiphyseal dysplasia, short limb-hand type Aliases: SMED short limb-abnormal calcification type SMED short limb-hand type SMED type 2 SMED, type II SMED-SL SMED-SL/AC spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome spondylometaepiphyseal dysplasia short limb-hand type	ddr-2	180622	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0112196	spondylometaepiphyseal dysplasia, short limb-hand type Aliases: SMED short limb-abnormal calcification type SMED short limb-hand type SMED type 2 SMED, type II SMED-SL SMED-SL/AC spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome spondylometaepiphyseal dysplasia short limb-hand type	DDR2	4921	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111554	spondylometaphyseal dysplasia Kozlowski type Aliases: Jequier Kozlowski skeletal dysplasia Jequier-Kozlowski syndrome SMD Kozlowski type dysmorphism arthrogryposis skeletal maturation advanced skeletal dysplasia Jequier-Kozlowski type	Trpv4	63873	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112298	spondylometaphyseal dysplasia Sedaghatian type Aliases: SMDS Sedaghatian chondrodysplasia congenital lethal metaphyseal chondrodysplasia	Gpx4	625249	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112298	spondylometaphyseal dysplasia Sedaghatian type Aliases: SMDS Sedaghatian chondrodysplasia congenital lethal metaphyseal chondrodysplasia	GPX1 GPX2	852546 853842	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0112297	spondylometaphyseal dysplasia corner fracture type Aliases: SMDCF spondylometaphyseal dysplasia Sutcliffe type	FN1	2335	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112297	spondylometaphyseal dysplasia corner fracture type Aliases: SMDCF spondylometaphyseal dysplasia Sutcliffe type	Fn1	14268	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112300	spondylometaphyseal dysplasia with cone-rod dystrophy Aliases: SMD-CRD SMDCRD spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	Y18H1A.11	353380	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0112300	spondylometaphyseal dysplasia with cone-rod dystrophy Aliases: SMD-CRD SMDCRD spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	PCYT1A	5130	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112303	spondylometaphyseal dysplasia with corneal dystrophy Aliases: SMDCD	PLCB3	5331	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112303	spondylometaphyseal dysplasia with corneal dystrophy Aliases: SMDCD	Plcb3	18797	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112295	spondylometaphyseal dysplasia	acp5.L acp5.S	432322 444356	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0112295	spondylometaphyseal dysplasia	Acp5	11433	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112295	spondylometaphyseal dysplasia	acp5b	436725	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0112295	spondylometaphyseal dysplasia	Acp5	25732	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112295	spondylometaphyseal dysplasia	ACP5	54	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112295	spondylometaphyseal dysplasia	acp5	493572	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0112195	spondyloperipheral dysplasia Aliases: spondyloperipheral dysplasia-short ulna syndrome	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112195	spondyloperipheral dysplasia Aliases: spondyloperipheral dysplasia-short ulna syndrome	col2a1	394828	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0112195	spondyloperipheral dysplasia Aliases: spondyloperipheral dysplasia-short ulna syndrome	Col2a1	25412	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112195	spondyloperipheral dysplasia Aliases: spondyloperipheral dysplasia-short ulna syndrome	col2a1.L	397738	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0112195	spondyloperipheral dysplasia Aliases: spondyloperipheral dysplasia-short ulna syndrome	Col2a1	12824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2247	spondylosis Aliases: Lumbar spondylosis with myelopathy Spondylogenic compression of lumbar spinal cord Spondylogenic compression of thoracic spinal cord Thoracic or lumbar spondylosis with myelopathy lumbosacral spondylosis without myelopathy spondylosis with myelopathy	Kl	16591	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2247	spondylosis Aliases: Lumbar spondylosis with myelopathy Spondylogenic compression of lumbar spinal cord Spondylogenic compression of thoracic spinal cord Thoracic or lumbar spondylosis with myelopathy lumbosacral spondylosis without myelopathy spondylosis with myelopathy	KL	9365	Homo sapiens (human)	Alliance of Genome Resources

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