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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 **4176 - 4200** of **5716** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:13268	porphyria Aliases: Hematoporphyria Porphyrinopathy disorder of porphyrin and hem metabolism disorder of porphyrin metabolism	EPO	2056	Homo sapiens (human)	Alliance of Genome Resources
DOID:13269	hereditary coproporphyria Aliases: Coproporphyrinogen oxidase deficiency hereditary coproporphyria porphyria	CPOX	1371	Homo sapiens (human)	Alliance of Genome Resources
DOID:13269	hereditary coproporphyria Aliases: Coproporphyrinogen oxidase deficiency hereditary coproporphyria porphyria	Cpox	12892	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13270	erythropoietic protoporphyria Aliases: EPP Protoporphyria	CLPX	10845	Homo sapiens (human)	Alliance of Genome Resources
DOID:13270	erythropoietic protoporphyria Aliases: EPP Protoporphyria	Abcg2	26357	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13271	cutaneous porphyria Aliases: Erythropoietic porphyria	UROS	7390	Homo sapiens (human)	Alliance of Genome Resources
DOID:13300	Scheuermann's disease Aliases: Juvenile osteochondritis of the spine Juvenile osteochondrosis of Scheurermann Juvenile osteochondrosis of spine Scheuermann's kyphosis Sherman's Disease	Nfix	18032	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13316	exocrine pancreatic insufficiency Aliases: EPI	CFTR	1080	Homo sapiens (human)	Alliance of Genome Resources
DOID:13317	hyperinsulinemic hypoglycemia Aliases: Islet cell hyperplasia nesidioblastosis persistent hyperinsulinemia hypoglycemia of infancy	Abcc8 Gck	103988 20927	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13317	hyperinsulinemic hypoglycemia Aliases: Islet cell hyperplasia nesidioblastosis persistent hyperinsulinemia hypoglycemia of infancy	GLK1	850317	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:13336	congenital toxoplasmosis Aliases: Toxoplasmosis - congen.	HLA-DQA1	3117	Homo sapiens (human)	Alliance of Genome Resources
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	Col1a1 Dcn Plod1	12842 13179 18822	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	b3galt6 b4galt7	445022 572324	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	sqv-3	176382	Caenorhabditis elegans	Alliance of Genome Resources
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	ADAMTS2 B4GALT7 COL1A2 COL3A1 COL5A1 COL5A2 LOX TNXB	11285 1278 1281 1289 1290 4015 7148 9509	Homo sapiens (human)	Alliance of Genome Resources
DOID:13365	reading disorder	CNTNAP2	26047	Homo sapiens (human)	Alliance of Genome Resources
DOID:13366	Stiff-Person syndrome Aliases: Stiff-man syndrome stiff man syndrome	Trak1	67095	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13366	Stiff-Person syndrome Aliases: Stiff-man syndrome stiff man syndrome	HSD17B4	3295	Homo sapiens (human)	Alliance of Genome Resources
DOID:13372	alpha 1-antitrypsin deficiency Aliases: AAT deficiency	SERPINA1	5265	Homo sapiens (human)	Alliance of Genome Resources
DOID:13374	fibrodysplasia ossificans progressiva Aliases: Stone Man Syndrome myositis ossificans progressiva progressive myositis ossificans progressive ossifying myositis	Acvr1 Bmp4	11477 12159	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13374	fibrodysplasia ossificans progressiva Aliases: Stone Man Syndrome myositis ossificans progressiva progressive myositis ossificans progressive ossifying myositis	ACVR1	90	Homo sapiens (human)	Alliance of Genome Resources
DOID:13375	temporal arteritis Aliases: Horton's disease giant cell arteritis	CCL2 ELN FCGR2A FCGR3A HLA-DRB1 IFNG IL17A IL21R IL4 MBL2 MFGE8 MMP2 MMP9 TLR4	2006 2212 2214 3123 3458 3565 3605 4153 4240 4313 4318 50615 6347 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:13378	Kawasaki disease Aliases: Kawasaki's disease MLNS acute febrile MCLS acute febrile mucocutaneous lymph node syndrome mucocutaneous lymph node syndrome	BTNL2 CCR2 CCR5 CD40 CD40LG HSPA1A HSPA1L MBL2 TNF VEGFA	1234 3303 3305 4153 56244 7124 729230 7422 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:1338	congenital dyserythropoietic anemia Aliases: congenital dyshaematopoietic anaemia	CDAN1 RACGAP1 SEC23B	10483 146059 29127	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:1338	congenital dyserythropoietic anemia Aliases: congenital dyshaematopoietic anaemia	Man2a1	17158	Mus musculus (house mouse)	Alliance of Genome Resources

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