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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 **201 - 225** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:0110274	autosomal recessive limb-girdle muscular dystrophy	poglut1 pomt2	563878 641495	Danio rerio (zebrafish)
DOID:14250	Down syndrome Aliases: Complete trisomy 21 syndrome Down's syndrome Down's syndrome - trisomy 21 Downs syndrome G Trisomy trisomy 21 syndrome	pofut2	779585	Xenopus tropicalis (tropical clawed frog)
DOID:14250	Down syndrome Aliases: Complete trisomy 21 syndrome Down's syndrome Down's syndrome - trisomy 21 Downs syndrome G Trisomy trisomy 21 syndrome	pofut2	777668	Danio rerio (zebrafish)
DOID:0060256	Dowling-Degos disease Aliases: dark dot disease reticular pigment anomaly of flexures	pofut1.L	398423	Xenopus laevis (African clawed frog)
DOID:0060256	Dowling-Degos disease Aliases: dark dot disease reticular pigment anomaly of flexures	pofut1	496411	Xenopus tropicalis (tropical clawed frog)
DOID:0060256	Dowling-Degos disease Aliases: dark dot disease reticular pigment anomaly of flexures	pofut1 poglut1	403029 641495	Danio rerio (zebrafish)
DOID:684	hepatocellular carcinoma Aliases: Hepatoma	plod3 rgn	448549 734090	Xenopus tropicalis (tropical clawed frog)
DOID:1094	attention deficit hyperactivity disorder Aliases: ADHD attention deficit disorder hyperkinetic disorder	pip	40104	Drosophila melanogaster (fruit fly)
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	pigv-1	172305	Caenorhabditis elegans
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	pigv	100380028	Xenopus tropicalis (tropical clawed frog)
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	pigv	100148642	Danio rerio (zebrafish)
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	pigb.L pigb.S	108711378 734564	Xenopus laevis (African clawed frog)
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	pigb-1	13184808	Caenorhabditis elegans
DOID:10112	sleeping sickness Aliases: African sleeping sickness African trypanosomiasis	pigb-1	13184808	Caenorhabditis elegans
DOID:10112	sleeping sickness Aliases: African sleeping sickness African trypanosomiasis	pigb	393448	Danio rerio (zebrafish)
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	pigb	393448	Danio rerio (zebrafish)
DOID:0060284	paroxysmal nocturnal hemoglobinuria	piga.L	108707921	Xenopus laevis (African clawed frog)
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.L	108707921	Xenopus laevis (African clawed frog)
DOID:0060713	autosomal recessive congenital ichthyosis 4B Aliases: ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis	piga-1	174386	Caenorhabditis elegans
DOID:0060284	paroxysmal nocturnal hemoglobinuria	piga-1	174386	Caenorhabditis elegans
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-1	174386	Caenorhabditis elegans
DOID:0060284	paroxysmal nocturnal hemoglobinuria	piga	791759	Danio rerio (zebrafish)
DOID:0060713	autosomal recessive congenital ichthyosis 4B Aliases: ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis	piga	791759	Danio rerio (zebrafish)
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	791759	Danio rerio (zebrafish)
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	100158632	Xenopus tropicalis (tropical clawed frog)

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