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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 **6926 - 6950** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:589	congenital hemolytic anemia Aliases: congenital hemolytic anaemia hereditary hemolytic anaemia hereditary hemolytic anemia	GPI HBB SLC4A1	2821 3043 6521	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111056	platelet-type bleeding disorder 3 Aliases: BDPLT3 PT-VWD platelet type-von Willebrand disease pseudo-von Willebrand disease von Willebrand disease platelet-type	GP1BA	2811	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111059	Bernard-Soulier syndrome type A2 Aliases: BSSA2	GP1BA	2811	Homo sapiens (human)	Alliance of Genome Resources
DOID:1725	peritoneum cancer	GP1BA PRG2	2811 5553	Homo sapiens (human)	Alliance of Genome Resources
DOID:2217	Bernard-Soulier syndrome Aliases: Bernard - Soulier thrombopathy Bernard Soulier syndrome Giant platelet syndrome Hemorrhagic dystrophic thrombocytopenia Thrombopathy, Bernard-Soulier	GP1BA GP1BB GP9 VWF	2811 2812 2815 7450	Homo sapiens (human)	Alliance of Genome Resources
DOID:2101	vulva squamous cell carcinoma Aliases: Vulvar Epidermoid carcinoma vulvar squamous cell carcinoma	CDC25A CDC25B SFN	2810 993 994	Homo sapiens (human)	Alliance of Genome Resources
DOID:1496	echinococcosis Aliases: Echinococcosis of liver echinococcal disease hepatic echinococcosis hydatid disease hydatidosis liver echinococcus pulmonary echinococcosis	ABO	28	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111402	mucopolysaccharidosis type IIID Aliases: GNS deficiency MPS IIID MPS3D Mucopolysaccharidosis type 3D N-acetylglucosamine-6-sulfatase deficiency Sanfilippo syndrome D Sanfilippo syndrome type D	GNS SGSH	2799 6448	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111395	mucopolysaccharidosis type IIIA Aliases: MPS3A MPSIIIA Sanfilippo syndrome type A heparan sulfamidase deficiency mucopolysaccharidosis III-A mucopolysaccharidosis type 3A mucopolysaccharidosis type IIIA (Sanfilippo A)	GNS SGSH	2799 6448	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111394	mucopolysaccharidosis type IIIB Aliases: MPS3B MPSIIIB Mucopoly-saccharidosis type 3B Mucopolysaccharidosis type 3B N-acetyl-alpha-glucosaminidase deficiency NAGLU deficiency Sanfilippo syndrome type B mucopolysaccharidosis type IIIB (Sanfilippo B)	GNS NAGLU SGSH	2799 4669 6448	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0060848	developmental and epileptic encephalopathy 9 Aliases: DEE9 EFMR EIEE9 Juberg Hellman syndrome early infantile epileptic encephalopathy 9 early infantile female-limited epilecptic encephalopathy female restricted epilepsy with mental retardation	Pcdh19	279653	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060805	Prieto syndrome Aliases: Prieto-Badia-Mulas syndrome X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome	Wnk3	279561	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070072	autosomal dominant intellectual developmental disorder 42 Aliases: MRD42 autosomal dominant mental retardation 42 autosomal dominant non-syndromic intellectual disability 42	GNB1	2782	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081423	familial focal epilepsy with variable foci 3	Depdc5	277854	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081421	familial focal epilepsy with variable foci 1	Depdc5	277854	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4183	pseudopseudohypoparathyroidism Aliases: Normocalcemic pseudohypoparathyroidism	GNAS	2778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080222	pseudohypoparathyroidism type IB	GNAS	2778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111623	ACTH-independent macronodular adrenal hyperplasia 1 Aliases: AIMAH1	GNAS	2778	Homo sapiens (human)	Alliance of Genome Resources
DOID:4184	pseudohypoparathyroidism	GNAS	2778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112010	pituitary adenoma 3 Aliases: PITA3 pituitary adenoma 3, multiple types	GNAS	2778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080053	Albright's hereditary osteodystrophy Aliases: Albright hereditary osteodystrophy pseudohypoparathyroidism type 1a	GNAS PTHLH	2778 5744	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111729	familial episodic pain syndrome 1 Aliases: FEPS1	Trpa1	277328	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110887	inflammatory bowel disease 12 Aliases: IBD12	GNAI2	2771	Homo sapiens (human)	Alliance of Genome Resources
DOID:1858	McCune Albright syndrome Aliases: fibrous dysplasia of bone osteitis fibrosa disseminata polyostotic fibrous dysplasia	GNAI1 GNAI2 GNAI3 GNAT3 IGFBP3	2770 2771 2773 346562 3486	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050589	inflammatory bowel disease	CCAP-R Egfr GlyT Mvl Sb Tace Tsf2 cora	2768688 37205 37455 37772 39435 41958 42490 43558	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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