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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 **4051 - 4075** of **5716** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0110859	polycystic kidney disease 2 Aliases: APKD2 PKD2 Polycystic Kidney Disease, Adult, Type II	Pkd2	18764	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110858	polycystic kidney disease 1 Aliases: APKD1 PKD1 Polycystic Kidney Disease, Adult, Type I	Pkd1	18763	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110861	autosomal recessive polycystic kidney disease Aliases: AR-PKD	Arl3 Pkd1 Pkhd1 Tsc1	18763 241035 56350 64930	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050964	spinocerebellar ataxia type 14	Prkcg	18752	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111454	SHORT syndrome Aliases: Aarskog-Ose-Pande syndrome Lipodystrophy-Rieger anomaly-diabetes syndrome Rieger anomaly-partial lipodystrophy syndrome short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay	Pik3r1	18708	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080351	CLOVES syndrome Aliases: congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Pik3ca	18706	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060713	autosomal recessive congenital ichthyosis 4B Aliases: ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis	Abca12 Cst6 Piga Prss8	18700 73720 74591 76560	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4074	pancreatic adenocarcinoma Aliases: pancreas adenocarcinoma	CXCR4 E2F1 JAK1 MAP2K1 MAPK9 RAC1 RAF1	1869 3716 5601 5604 5879 5894 7852	Homo sapiens (human)	Alliance of Genome Resources
DOID:3498	pancreatic ductal adenocarcinoma Aliases: ductal adenocarcinoma of the pancreas	CALR E2F1 GOT1 TGFBR1	1869 2805 7046 811	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111040	glycogen storage disease IXd Aliases: GSD IXd GSD due to muscle phosphorylase kinase deficiency GSD type 9D GSD type 9E GSD type IXd GSD type IXe GSD9D X-linked muscke glycogenosis glycogen storage disease due to muscle phosphorylase kinase deficiency glycogen storage disease type 9D glycogen storage disease type 9E glycogen storage disease type IXd glycogen storage disease type IXe glycogenosis due to muscle phosphorylase kinase deficiency glycogenosis type 9D glycogenosis type 9E glycogenosis type IXd glycogenosis type IXe muscle phosphorylase kinase deficiency	Phka1	18679	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050445	X-linked hypophosphatemic rickets Aliases: Hypophosphatemia, Vitamin D-Resistant Rickets Vitamin D-Resistant Rickets, X-Linked X-linked dominant hypophosphatemic rickets X-linked hypophosphatemia hypophosphatemic rickets X-linked dominant	Phex	18675	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110893	inflammatory bowel disease 13 Aliases: IBD13	Abcb1a	18671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13580	cholestasis Aliases: Obstruction of bile duct bile occlusion	Abcb4	18670	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1949	cholecystitis Aliases: acute and chronic cholecystitis acute cholecystitis acute on chronic cholecystitis chronic cholecystitis	Abcb4	18670	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060643	primary sclerosing cholangitis	Abcb4	18670	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1852	intrahepatic cholestasis Aliases: neonatal intrahepatic cholestasis	Abcb4	18670	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110922	familial hemophagocytic lymphohistiocytosis 2 Aliases: FHL2 HLH2 HPLH2	Prf1	18646	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2377	multiple sclerosis Aliases: Generalized multiple sclerosis insular sclerosis	Prf1 Tnf	18646 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11721	glycogen storage disease VII Aliases: Glycogen storage disease 7 Glycogen storage disease, type VII Muscle phosphofructokinase deficiency glycogen storage disease type VII phosphofructokinase myopathy	Pfkm	18642	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110011	advanced sleep phase syndrome 1 Aliases: FASPS1 familial advanced sleep phase syndrome 1	Per2	18627	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060730	torsion dystonia 1 Aliases: dystonia musculorum deformans	TOR1A	1861	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080981	arthrogryposis multiplex congenita-5	TOR1A	1861	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111103	maturity-onset diabetes of the young type 4 Aliases: MODY type 4 MODY4	Pdx1	18609	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060887	ossification of the posterior longitudinal ligament of spine Aliases: OPLL	Enpp1	18605	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050644	arterial calcification of infancy Aliases: generalized arterial calcification of infancy idiopathic infantile arterial calcification infantile arteriosclerosis	Enpp1	18605	Mus musculus (house mouse)	Alliance of Genome Resources

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