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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 **1726 - 1750** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:11198	DiGeorge syndrome Aliases: 22q11.2 deletion syndrome DiGeorge sequence DiGeorge's syndrome Pharyngeal pouch syndrome	sfl	38736	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	PIG-B	38446	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:10112	sleeping sickness Aliases: African sleeping sickness African trypanosomiasis	PIG-B	38446	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080561	congenital disorder of glycosylation Ii Aliases: congenital disorder of glycosylation 1i	Alg2	38374	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110669	congenital myasthenic syndrome 14 Aliases: CMS14 CMSTA3 congenital myasthenic syndrome 14, with tubular aggregates congenital myasthenic syndrome with tubular aggregates 3	Alg2	38374	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3146	lipid metabolism disorder Aliases: dyslipidemia fatty acid metabolism disorder	CPT2	38355	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080000	muscular disease	CPT2	38355	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060462	Desbuquois dysplasia Aliases: Desbuquois syndrome micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification	oxt	38288	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2738	pseudoxanthoma elasticum Aliases: Gronblad-Strandberg syndrome	oxt	38288	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:8568	infectious mononucleosis Aliases: Filatov's disease Gammaherpesviral mononucleosis Monocytic angina Pfeiffer's disease glandular fever mononucleosis	KLRD1 NCAM1	3824 4684	Homo sapiens (human)	DisGeNET
DOID:0080560	congenital disorder of glycosylation Ih Aliases: congenital disorder of glycosylation 1h	Alg8	381903	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080201	Peters plus syndrome Aliases: Krause-Kivlin syndrome Peters anomaly-short limb dwarfism syndrome Peters-plus syndrome	B3glct	381694	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050636	familial visceral amyloidosis Aliases: AMYLOIDOSIS, FAMILIAL RENAL German type amyloidosis OSTERTAG TYPE AMYLOIDOSIS systemic nonneuropathic amyloidosis	LysB LysD LysE LysP LysS LysX	38122 38125 38127 38128 38129 38130	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110645	long QT syndrome 2 Aliases: LQT2	Alg10b	380959	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1588	thrombocytopenia	Gale	38076	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111458	galactose epimerase deficiency Aliases: GALE deficiency GALE-D UDP-galactose-4-epimerase deficiency epimerase deficiency galactosemia galactosemia III galactosemia type 3 uridine diphosphate galactose-4-epimerase deficiency	Gale	38076	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3319	lymphangioleiomyomatosis Aliases: lung lymphangioleiomyomatosis lymphangiomyomatosis pulmonary lymphangioleiomyomatosis	gapdh.S	380259	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:10652	Alzheimer's disease Aliases: Alzheimer disease Alzheimers dementia	eno1.S gapdh.S	380259 380298	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:2978	carbohydrate metabolic disorder Aliases: disorder of carbohydrate transport and metabolism inborn carbohydrate metabolism disorder inborn errors of carbohydrate metabolism	tpi1.S	380168	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0050884	triosephosphate isomerase deficiency Aliases: Triose phosphate-isomerase deficiency	tpi1.S	380168	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0090142	cystathioninuria Aliases: cystathionase deficiency cystathione gamma-lyase deficiency syndrome gamma-cystathionase deficiency	ACAT1	38	Homo sapiens (human)	DisGeNET
DOID:2978	carbohydrate metabolic disorder Aliases: disorder of carbohydrate transport and metabolism inborn carbohydrate metabolism disorder inborn errors of carbohydrate metabolism	ACAT1 MPI OXCT1 SLC2A1 TALDO1 TPI1	38 4351 5019 6513 6888 7167	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110219	Brugada syndrome 2 Aliases: BRGDA2	gpd1l.L	379962	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:11984	hypertrophic cardiomyopathy Aliases: hypertrophic obstructive cardiomyopathy	cs.L	379886	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0080322	polycystic kidney disease	alg5.L alg5.S	379570 380326	Xenopus laevis (African clawed frog)	Alliance of Genome Resources

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