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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	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4101 - 4125** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
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: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: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:11400	pyelonephritis	Pgf Tlr1	18654 21897	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: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: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: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: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: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:0060669	cerebral cavernous malformation Aliases: cavernous angiomatous malformations cerebral capillary malformations familial cavernous angioma	Pik3ca	18706	Mus musculus (house mouse)
DOID:4511	breast angiosarcoma Aliases: hemangiosarcoma of the breast	Pik3ca	18706	Mus musculus (house mouse)
DOID:0111162	epidermal nevus Aliases: nonepidermolytic keratinocytic nevus	Pik3ca	18706	Mus musculus (house mouse)
DOID:6498	seborrheic keratosis	Pik3ca	18706	Mus musculus (house mouse)
DOID:0080351	CLOVES syndrome Aliases: congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Pik3ca	18706	Mus musculus (house mouse)
DOID:3450	cutaneous Paget's disease Aliases: Paget's disease of skin cutaneous Paget disease extramammary Paget's disease	Pik3ca	18706	Mus musculus (house mouse)
DOID:0060075	estrogen-receptor positive breast cancer	Pik3ca	18706	Mus musculus (house mouse)
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:10762	portal hypertension	Nr1d1 Pik3r1 Tnf	18708 217166 21926	Mus musculus (house mouse)

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