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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 **7801 - 7825** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:1919	Lesch-Nyhan syndrome Aliases: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency	prtfdc1	100124954	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:653	purine-pyrimidine metabolic disorder Aliases: inborn errors of purine-pyrimidine metabolism	r-l	42493	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050833	orotic aciduria	r-l	42493	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1168	familial hyperlipidemia Aliases: familial hyperlipoproteinemia hyperlipemia	rgn	403070	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:1168	familial hyperlipidemia Aliases: familial hyperlipoproteinemia hyperlipemia	rgn	448549	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:10534	stomach cancer Aliases: gastric cancer gastric neoplasm	rgn.L	373659	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:206	hereditary multiple exostoses Aliases: Multiple congenital exostosis Multiple exostosis syndromes Osteochondromatosis syndrome hereditary multiple exostoses 1 hereditary multiple exostoses 2 hereditary multiple exostoses 3 multiple ostechondromas	rib-1 rib-2	176502 178080	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050700	cardiomyopathy Aliases: Cardiomyopathies	rt	39297	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1 Aliases: MDDGA1 Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1	rt	39297	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110297	autosomal recessive limb-girdle muscular dystrophy type 2K Aliases: LGMD2K MDDGC1 limb-girdle muscular dystrophy-intellectual disability syndrome muscular dystrophy limb-girdle type 2K muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1	rt	39297	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110274	autosomal recessive limb-girdle muscular dystrophy	rumi tw	31024 326122	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111239	congenital muscular dystrophy-dystroglycanopathy type A10 Aliases: MDDGA10 Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10	rxylt1	100145540	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0111239	congenital muscular dystrophy-dystroglycanopathy type A10 Aliases: MDDGA10 Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10	rxylt1	557187	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111239	congenital muscular dystrophy-dystroglycanopathy type A10 Aliases: MDDGA10 Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10	rxylt1.S	446820	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:1289	neurodegenerative disease Aliases: degenerative disease	sarm1 tpi1a tpi1b	192309 403143 560753	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:332	amyotrophic lateral sclerosis Aliases: ALS Lou Gehrig's disease motor neuron disease, bulbar	sarm1	403143	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:12716	newborn respiratory distress syndrome Aliases: HMD - Hyaline membrane disease Neonatal respiratory Distress syndrome hyaline membrane disease pulmonary hyaline membrane disease pulmonary hypoperfusion syndrome of newborn respiratory distress syndrome of newborn	sfl	38736	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:14227	azoospermia	sfl	38736	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0081210	autosomal recessive intellectual developmental disorder 46	sfl	38736	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
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:3827	congenital diaphragmatic hernia Aliases: Diaphragmatic Hernia	sfl	38736	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050850	diabetic encephalopathy	sgg	31248	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1596	depressive disorder Aliases: mental depression	sgg	31248	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:8725	vascular dementia Aliases: Multi Infarct Dementia multifocal dementia	sgg	31248	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:9408	acute myocardial infarction	sgg	31248	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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