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GlyCosmos Diseases

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

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **551 - 575** of **7942** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	beta3GalTII	35848	Drosophila melanogaster (fruit fly)
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)
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
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	b3galt6.L b3galt6.S	108696563 108697636	Xenopus laevis (African clawed frog)
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	B3galt6	117592	Mus musculus (house mouse)
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)
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)
DOID:0050568	spondylocostal dysostosis Aliases: Jarcho-Levin syndrome costovertebral dysplasia spondylothoracic dysostosis spondylothoracic dysplasia	LFNG SLC35A3	23443 3955	Homo sapiens (human)
DOID:0112361	spondylocostal dysostosis 3 Aliases: SCDO3 autosomal recessive spondylocostal dysostosis 3	Lfng	16848	Mus musculus (house mouse)
DOID:0112361	spondylocostal dysostosis 3 Aliases: SCDO3 autosomal recessive spondylocostal dysostosis 3	LFNG	3955	Homo sapiens (human)
DOID:0112361	spondylocostal dysostosis 3 Aliases: SCDO3 autosomal recessive spondylocostal dysostosis 3	Lfng	170905	Rattus norvegicus (Norway rat)
DOID:0112361	spondylocostal dysostosis 3 Aliases: SCDO3 autosomal recessive spondylocostal dysostosis 3	lfng.L lfng.S	100036937 397855	Xenopus laevis (African clawed frog)
DOID:0112361	spondylocostal dysostosis 3 Aliases: SCDO3 autosomal recessive spondylocostal dysostosis 3	lfng	549805	Xenopus tropicalis (tropical clawed frog)
DOID:0112361	spondylocostal dysostosis 3 Aliases: SCDO3 autosomal recessive spondylocostal dysostosis 3	fng	40314	Drosophila melanogaster (fruit fly)
DOID:0112361	spondylocostal dysostosis 3 Aliases: SCDO3 autosomal recessive spondylocostal dysostosis 3	lfng	30158	Danio rerio (zebrafish)
DOID:0090116	spondylocarpotarsal synostosis syndrome Aliases: SCT congenital scoliosis with unilateral unsegmented bar congenital synspondylism spondylocarpotarsal syndrome spondylocarpotarsal synostosis vertebral fusion with carpal coalition	CAT CS G6PD ICAM1 VCAM1	1431 2539 3383 7412 847	Homo sapiens (human)
DOID:1123	spondyloarthropathy Aliases: spondarthropathy spondylarthrosis	Enpp1 Tnf	24835 85496	Rattus norvegicus (Norway rat)
DOID:1123	spondyloarthropathy Aliases: spondarthropathy spondylarthrosis	Enpp1 Tnf	18605 21926	Mus musculus (house mouse)
DOID:1123	spondyloarthropathy Aliases: spondarthropathy spondylarthrosis	ACAN ACE ALDOA CD14 CD74 CYP17A1 ENO1 ENPP1 FCGR3B KL KLRB1 KLRK1 MBL2 MICA PTGS2 SFTPA2 SMUG1 SOAT1 TNF VCAN	100507436 1462 1586 1636 176 2023 2215 226 22914 23583 3820 4153 5167 5743 6646 7124 729238 929 9365 972	Homo sapiens (human)
DOID:6590	spondylitis	ACAN MICA SMUG1 VCAN	100507436 1462 176 23583	Homo sapiens (human)
DOID:0090020	split hand-foot malformation Aliases: lobster-claw deformity split-hand deformity	QTRT1 UGT8	7368 81890	Homo sapiens (human)
DOID:0090026	split hand-foot malformation 6 Aliases: SHFM6	QTRT1 UGT8	7368 81890	Homo sapiens (human)
DOID:0090022	split hand-foot malformation 5 Aliases: SHFM5	QTRT1 UGT8	7368 81890	Homo sapiens (human)
DOID:0090023	split hand-foot malformation 4 Aliases: SHFM4	QTRT1 UGT8	7368 81890	Homo sapiens (human)
DOID:0090025	split hand-foot malformation 3 Aliases: SHFM3 chromosome 10q24 duplication syndrome distal limb deficiencies with micrognathia	QTRT1 UGT8	7368 81890	Homo sapiens (human)

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