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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 **13901 - 13925** of **15957** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism	Source
DOID:0080675	Stickler syndrome 2	COL11A1	1301	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080676	Stickler syndrome 1	col2a1.L	397738	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0080676	Stickler syndrome 1	col2a1	394828	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0080676	Stickler syndrome 1	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080676	Stickler syndrome 1	Col2a1	12824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080676	Stickler syndrome 1	Col2a1	25412	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050426	Stevens-Johnson syndrome	Clu Tnf	24835 24854	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050426	Stevens-Johnson syndrome	CLU HLA-A HLA-B HLA-DQB1 TNF	1191 3105 3106 3119 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050426	Stevens-Johnson syndrome	Clu H2-Ab1 H2-D1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3 Tnf	110557 12759 14961 14964 14972 14990 15006 15007 15013 15015 15018 15043 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050817	Stargardt disease Aliases: STARGARDT DISEASE 1	ABCA4 ELOVL4	24 6785	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050817	Stargardt disease Aliases: STARGARDT DISEASE 1	Abca4 Elovl4	11304 83603	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050817	Stargardt disease Aliases: STARGARDT DISEASE 1	abt-2	171782	Caenorhabditis elegans	Alliance of Genome Resources
DOID:14748	Sotos syndrome Aliases: cerebral gigantism	NSD1	64324	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112104	Sotos syndrome 3 Aliases: SOTOS3	APC2	10297	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112102	Sotos syndrome 2 Aliases: SOTOS2	NFIX	4784	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112102	Sotos syndrome 2 Aliases: SOTOS2	Nfix	18032	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112103	Sotos syndrome 1 Aliases: SOTOS1	NSD1 NSD2 NSD3	54904 64324 7468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090114	Sorsby's fundus dystrophy Aliases: SFD hemorrhagic macular dystrophy pseudoinflammatory fundus dystrophy of Sorsby	Timp3	21859	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090114	Sorsby's fundus dystrophy Aliases: SFD hemorrhagic macular dystrophy pseudoinflammatory fundus dystrophy of Sorsby	cri-2	179197	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0090114	Sorsby's fundus dystrophy Aliases: SFD hemorrhagic macular dystrophy pseudoinflammatory fundus dystrophy of Sorsby	TIMP3	7078	Homo sapiens (human)	Alliance of Genome Resources
DOID:13096	Sneddon syndrome Aliases: Idiopathic livedo reticularis with systemic involvement	ada2a	373884	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:13096	Sneddon syndrome Aliases: Idiopathic livedo reticularis with systemic involvement	ADA2	51816	Homo sapiens (human)	Alliance of Genome Resources
DOID:13096	Sneddon syndrome Aliases: Idiopathic livedo reticularis with systemic involvement	ada2.L	779128	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0060247	Smith-McCort dysplasia	DYM RAB8B	51762 54808	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060247	Smith-McCort dysplasia	Rab8b	235442	Mus musculus (house mouse)	Alliance of Genome Resources

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