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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	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **15351 - 15375** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:11725	Cornelia de Lange syndrome Aliases: Brachmann de Lange syndrome De Lange syndrome	SMC3	853371	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0112258	N-acetylglutamate synthase deficiency Aliases: N-acetyl glutamate synthetase deficiency N-acetylglutamate synthetase deficiency NAG synthetase deficiency NAGS deficiency hyperammonemia due to N-acetylglutamate synthase deficiency	ARG2	853374	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:4751	striatonigral degeneration	NSP1	853409	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:5199	ureteral obstruction	KAR2 STE20	853418 856382	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0090145	dopamine beta-hydroxylase deficiency Aliases: congenital dopamine beta-hydroxylase deficiency noradrenaline deficiency norepinephrine deficiency	KAR2	853418	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:2671	transitional cell carcinoma Aliases: transitional carcinoma transitional cell tumor urothelial cell carcinoma	OGG1 STE20 TRE1 TRE2 VPS70	853590 854430 854942 855927 856382	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111948	immunodeficiency 46 Aliases: CID due to TFRC deficiency IMD46 TFRC-related combined immunodeficiency combined immunodeficiency due to TFRC deficiency	TRE1 TRE2 VPS70	853590 854430 855927	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:2352	hemochromatosis Aliases: Haemochromatosis diabetes bronze iron storage disorder	TRE1 TRE2 VPS70	853590 854430 855927	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:374	nutrition disease Aliases: Nutritional disorder	TRE1 TRE2 VPS70	853590 854430 855927	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111030	hemochromatosis type 3 Aliases: HFE3 TFR2-related hemochromatosis hemochromatosis due to defect in transferrin receptor 2	TRE1 TRE2 VPS70	853590 854430 855927	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:3702	cervical adenocarcinoma Aliases: adenocarcinoma cervix uteri adenocarcinoma of cervix adenocarcinoma of the uterine Cervix	TRE1 TRE2 VPS70	853590 854430 855927	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0081097	Rafiq syndrome Aliases: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15	MNS1	853595	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0112202	developmental and epileptic encephalopathy	IML1 VPS1	853603 853870	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0081421	familial focal epilepsy with variable foci 1	IML1	853603	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:2234	focal epilepsy Aliases: localisation-related epilepsy partial epilepsy	IML1	853603	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0081423	familial focal epilepsy with variable foci 3	IML1	853603	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1 Aliases: CMD due to dystroglycanopathy Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1	PMT4	853608	Saccharomyces cerevisiae S288C	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	PMT4	853608	Saccharomyces cerevisiae S288C	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	PMT4	853608	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:9296	cleft lip Aliases: Labium leporinum cheiloschisis cleft lip, unilateral, complete complete unilateral cleft lip hare lip	PMT4	853608	Saccharomyces cerevisiae S288C	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	85365	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080561	congenital disorder of glycosylation Ii Aliases: congenital disorder of glycosylation 1i	ALG2	85365	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0060643	primary sclerosing cholangitis	NFT1 STE6	853671 853978	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:12365	malaria Aliases: induced malaria	PYK2 STE6 ZWF1	853671 854529 855480	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:13413	hepatic encephalopathy Aliases: Portal-systemic encephalopathy	STE6 ZWF1	853671 855480	Saccharomyces cerevisiae S288C	Alliance of Genome Resources

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