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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3826 - 3850** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:1984	rectal benign neoplasm Aliases: Rectal tumor neoplasm of rectum rectum neoplasm	Pik3ca	18706	Mus musculus (house mouse)
DOID:0081001	Cowden syndrome 5	Pik3ca	18706	Mus musculus (house mouse)
DOID:0060713	autosomal recessive congenital ichthyosis 4B Aliases: ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis	Piga	18700	Mus musculus (house mouse)
DOID:0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2 Aliases: developmental and epileptic encephalopathy 20 early infantile epileptic encephalopathy 20 glycosylphosphatidylinositol biosynthesis defect 4	Piga	18700	Mus musculus (house mouse)
DOID:0060284	paroxysmal nocturnal hemoglobinuria	Piga	18700	Mus musculus (house mouse)
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)
DOID:0111933	phosphoglycerate kinase 1 deficiency Aliases: GSD due to phosphoglycerate kinase 1 deficiency PGK1 deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency	Pgk1	18655	Mus musculus (house mouse)
DOID:4977	lymphedema Aliases: Lymphatic edema Lymphoedema	Pgf	18654	Mus musculus (house mouse)
DOID:1577	limited scleroderma Aliases: Limited cutaneous systemic sclerosis systemic sclerosis, limited	Pgf	18654	Mus musculus (house mouse)
DOID:1798	pancreatic endocrine carcinoma Aliases: Islet cell carcinoma carcinoma of endocrine pancreas malignant neoplasm of islets of Langerhans pancreatic neuroendocrine carcinoma	Pgf	18654	Mus musculus (house mouse)
DOID:3407	carotid artery disease Aliases: disorder of carotid artery	Nampt Pgf Tlr4 Ucp2	18654 21898 22228 59027	Mus musculus (house mouse)
DOID:11400	pyelonephritis	Pgf Tlr1	18654 21897	Mus musculus (house mouse)
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)
DOID:0050628	advanced sleep phase syndrome Aliases: familial advanced sleep-phase syndrome	Per2	18627	Mus musculus (house mouse)
DOID:0110011	advanced sleep phase syndrome 1 Aliases: FASPS1 familial advanced sleep phase syndrome 1	Per2	18627	Mus musculus (house mouse)
DOID:0111103	maturity-onset diabetes of the young type 4 Aliases: MODY type 4 MODY4	Pdx1	18609	Mus musculus (house mouse)
DOID:0050877	pancreatic agenesis Aliases: Agenesis of the dorsal pancreas partial pancreatic agenesis	Pdx1	18609	Mus musculus (house mouse)
DOID:0080998	acute necrotizing pancreatitis	Pdx1 Tlr2 Tlr4	18609 21898 24088	Mus musculus (house mouse)
DOID:3891	placental insufficiency	Pdx1 Ppargc1a	18609 19017	Mus musculus (house mouse)
DOID:0060887	ossification of the posterior longitudinal ligament of spine Aliases: OPLL	Enpp1	18605	Mus musculus (house mouse)
DOID:0050644	arterial calcification of infancy Aliases: generalized arterial calcification of infancy idiopathic infantile arterial calcification infantile arteriosclerosis	Enpp1	18605	Mus musculus (house mouse)
DOID:0080333	aortic valve disease 1	Enpp1	18605	Mus musculus (house mouse)
DOID:1123	spondyloarthropathy Aliases: spondarthropathy spondylarthrosis	Enpp1 Tnf	18605 21926	Mus musculus (house mouse)
DOID:1214	tympanosclerosis	Enpp1 Tlr4	18605 21898	Mus musculus (house mouse)
DOID:10754	otitis media	Enpp1 Nisch Tlr2 Tlr4 Tnf	18605 21898 21926 24088 64652	Mus musculus (house mouse)

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