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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4401 - 4425** of **5716** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:14748	Sotos syndrome Aliases: cerebral gigantism	NSD1	64324	Homo sapiens (human)	Alliance of Genome Resources
DOID:14755	argininosuccinic aciduria Aliases: Argininosuccinate lyase deficiency argininosuccinic acidemia arginosuccinase deficiency deficiency of argininosuccinate lyase	Asl	109900	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14756	vascular type Ehlers-Danlos syndrome Aliases: Ehlers-Danlos syndrome type 4 Ehlers-Danlos syndrome type IV autosomal dominant type IV Ehlers-Danlos syndrome	COL3A1	1281	Homo sapiens (human)	Alliance of Genome Resources
DOID:14756	vascular type Ehlers-Danlos syndrome Aliases: Ehlers-Danlos syndrome type 4 Ehlers-Danlos syndrome type IV autosomal dominant type IV Ehlers-Danlos syndrome	Col3a1	12825	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14757	Ehlers-Danlos syndrome hypermobility type Aliases: Ehlers-Danlos syndrome, type 3 type III Ehlers-Danlos syndrome	COL3A1	1281	Homo sapiens (human)	Alliance of Genome Resources
DOID:14761	Greig cephalopolysyndactyly syndrome Aliases: polysyndactyly with peculiars skull shape	GLI3	2737	Homo sapiens (human)	Alliance of Genome Resources
DOID:14761	Greig cephalopolysyndactyly syndrome Aliases: polysyndactyly with peculiars skull shape	Gli3	14634	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14764	Larsen syndrome Aliases: dominant larsen syndrome	FLNB	2317	Homo sapiens (human)	Alliance of Genome Resources
DOID:14766	renal agenesis Aliases: hereditary renal aplasia hereditary urogenital adysplasia renal adysplasia renal aplasia	GFRA1 GREB1L ITGA8	2674 80000 8516	Homo sapiens (human)	Alliance of Genome Resources
DOID:14768	Saethre-Chotzen syndrome	FGFR2 TWIST1	2263 7291	Homo sapiens (human)	Alliance of Genome Resources
DOID:14775	brittle cornea syndrome 1 Aliases: type VIB Ehlers-Danlos syndrome	PLOD1	5351	Homo sapiens (human)	Glyco-Disease Genes Database
DOID:14778	blepharophimosis, ptosis, and epicanthus inversus syndrome	FOXL2	668	Homo sapiens (human)	Alliance of Genome Resources
DOID:14780	KBG syndrome	ANKRD11	29123	Homo sapiens (human)	Alliance of Genome Resources
DOID:14780	KBG syndrome	Ankrd11	77087	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14784	olivopontocerebellar atrophy Aliases: Dejerine-Thomas syndrome Thomas' syndrome WADIA-SWAMI SYNDROME	APTX	54840	Homo sapiens (human)	Alliance of Genome Resources
DOID:14789	spondyloepiphyseal dysplasia congenita Aliases: Late Spondyloepiphyseal Dysplasia	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:14789	spondyloepiphyseal dysplasia congenita Aliases: Late Spondyloepiphyseal Dysplasia	Col2a1 Hapln1	12824 12950	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14791	Leber congenital amaurosis Aliases: LCA Leber's amaurosis Leber's congenital amaurosis Leber's disease	CRB1 MYO7A PRPH2	23418 4647 5961	Homo sapiens (human)	Alliance of Genome Resources
DOID:14791	Leber congenital amaurosis Aliases: LCA Leber's amaurosis Leber's congenital amaurosis Leber's disease	Pals1	56217	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14791	Leber congenital amaurosis Aliases: LCA Leber's amaurosis Leber's congenital amaurosis Leber's disease	crb	42896	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:14791	Leber congenital amaurosis Aliases: LCA Leber's amaurosis Leber's congenital amaurosis Leber's disease	ENV9	854420	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:14793	hypohidrotic ectodermal dysplasia	Eda Edar	13607 13608	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1485	cystic fibrosis Aliases: CF mucoviscidosis	Cftr	24255	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1485	cystic fibrosis Aliases: CF mucoviscidosis	Cftr Scnn1b	12638 20277	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1485	cystic fibrosis Aliases: CF mucoviscidosis	cftr	559080	Danio rerio (zebrafish)	Alliance of Genome Resources

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