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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 **6151 - 6175** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:0111043	glycogen storage disease IXc Aliases: GSD type 9C GSD type IXc GSD9C glycogen storage disease type 9C glycogen storage disease type IXc glycogenosis type 9C glycogenosis type IXc	Phkg2	140671	Rattus norvegicus (Norway rat)
DOID:0111043	glycogen storage disease IXc Aliases: GSD type 9C GSD type IXc GSD9C glycogen storage disease type 9C glycogen storage disease type IXc glycogenosis type 9C glycogenosis type IXc	Phkg2	68961	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: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:0060284	paroxysmal nocturnal hemoglobinuria	Piga	18700	Mus musculus (house mouse)
DOID:0060284	paroxysmal nocturnal hemoglobinuria	Piga	363464	Rattus norvegicus (Norway rat)
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	363464	Rattus norvegicus (Norway rat)
DOID:0060713	autosomal recessive congenital ichthyosis 4B Aliases: ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis	Piga	363464	Rattus norvegicus (Norway rat)
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	Pigb	315807	Rattus norvegicus (Norway rat)
DOID:10112	sleeping sickness Aliases: African sleeping sickness African trypanosomiasis	Pigb	315807	Rattus norvegicus (Norway rat)
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	Pigb	55981	Mus musculus (house mouse)
DOID:10112	sleeping sickness Aliases: African sleeping sickness African trypanosomiasis	Pigb	55981	Mus musculus (house mouse)
DOID:0080283	developmental and epileptic encephalopathy 55 Aliases: DEE55 GPIBD14 early infantile epileptic encephalopathy 55 glycosylphosphatidylinositol biosynthesis defect 14	Pigp	56176	Mus musculus (house mouse)
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	Pigv	230801	Mus musculus (house mouse)
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	Pigv	366478	Rattus norvegicus (Norway rat)
DOID:0081001	Cowden syndrome 5	Pik3ca	170911	Rattus norvegicus (Norway rat)
DOID:0111162	epidermal nevus Aliases: nonepidermolytic keratinocytic nevus	Pik3ca	170911	Rattus norvegicus (Norway rat)
DOID:1984	rectal benign neoplasm Aliases: Rectal tumor neoplasm of rectum rectum neoplasm	Pik3ca	170911	Rattus norvegicus (Norway rat)
DOID:6498	seborrheic keratosis	Pik3ca	170911	Rattus norvegicus (Norway rat)
DOID:3450	cutaneous Paget's disease Aliases: Paget's disease of skin cutaneous Paget disease extramammary Paget's disease	Pik3ca	170911	Rattus norvegicus (Norway rat)
DOID:0060075	estrogen-receptor positive breast cancer	Pik3ca	170911	Rattus norvegicus (Norway rat)
DOID:4511	breast angiosarcoma Aliases: hemangiosarcoma of the breast	Pik3ca	170911	Rattus norvegicus (Norway rat)
DOID:0080351	CLOVES syndrome Aliases: congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Pik3ca	170911	Rattus norvegicus (Norway rat)
DOID:0060669	cerebral cavernous malformation Aliases: cavernous angiomatous malformations cerebral capillary malformations familial cavernous angioma	Pik3ca	170911	Rattus norvegicus (Norway rat)
DOID:4511	breast angiosarcoma Aliases: hemangiosarcoma of the breast	Pik3ca	18706	Mus musculus (house mouse)

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