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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 **7776 - 7800** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0111670	primary hyperoxaluria type 1 Aliases: HP1 alanine-glyoxylate aminotransferase deficiency glycolic aciduria hepatic AGT deficiency oxalosis I peroxisomal alanine-glyoxylate aminotransferase deficiency serine pyruvate aminotransferase deficiency	AGXT	189	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111671	primary hyperoxaluria type 2 Aliases: D-glycerate dehydrogenase deficiency HP2 L-glyceric aciduria glyoxylate reductase/hydroxypyruvate reductase deficiency oxalosis II	Grhpr	76238	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111671	primary hyperoxaluria type 2 Aliases: D-glycerate dehydrogenase deficiency HP2 L-glyceric aciduria glyoxylate reductase/hydroxypyruvate reductase deficiency oxalosis II	GRHPR	9380	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111672	primary hyperoxaluria type 3 Aliases: HP3 PH III primary hyperoxaluria type III	HOGA1	112817	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111673	Saul-Wilson syndrome Aliases: SWILS microcephalic osteodysplastic dysplasia, Saul-Wilson type	COG4	25839	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111673	Saul-Wilson syndrome Aliases: SWILS microcephalic osteodysplastic dysplasia, Saul-Wilson type	COG4	856220	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111674	intellectual developmental disorder with short stature and behavioral abnormalities Aliases: IDDSSBA	SYT1	856210	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111674	intellectual developmental disorder with short stature and behavioral abnormalities Aliases: IDDSSBA	Iqsec1	232227	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111675	neurooculocardiogenitourinary syndrome Aliases: NOCGUS	WDR37	22884	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111675	neurooculocardiogenitourinary syndrome Aliases: NOCGUS	Wdr37	207615	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111676	high molecular weight kininogen deficiency Aliases: Fitzgerald trait HMWK deficiency congenital high-molecular-weight kininogen deficiency	KNG1	3827	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111676	high molecular weight kininogen deficiency Aliases: Fitzgerald trait HMWK deficiency congenital high-molecular-weight kininogen deficiency	Kng1 Kng2	16644 385643	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111676	high molecular weight kininogen deficiency Aliases: Fitzgerald trait HMWK deficiency congenital high-molecular-weight kininogen deficiency	Kng2l1	25087	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111677	familial benign fleck retina Aliases: FRFB	PLA2G5	5322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111678	hereditary folate malabsorption Aliases: congenital defect of folate absorption congenital folate malabsorption	slc46a1	393255	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111678	hereditary folate malabsorption Aliases: congenital defect of folate absorption congenital folate malabsorption	Slc46a1	303333	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111678	hereditary folate malabsorption Aliases: congenital defect of folate absorption congenital folate malabsorption	Slc46a1	52466	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111678	hereditary folate malabsorption Aliases: congenital defect of folate absorption congenital folate malabsorption	SLC46A1	113235	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111678	hereditary folate malabsorption Aliases: congenital defect of folate absorption congenital folate malabsorption	slc46a1.L	446819	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0111678	hereditary folate malabsorption Aliases: congenital defect of folate absorption congenital folate malabsorption	slc-46A	189356	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111680	essential fructosuria Aliases: fructokinase deficiency hepatic fructokinase deficiency ketohexokinase deficiency	Khk	25659	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111680	essential fructosuria Aliases: fructokinase deficiency hepatic fructokinase deficiency ketohexokinase deficiency	Khk	16548	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111680	essential fructosuria Aliases: fructokinase deficiency hepatic fructokinase deficiency ketohexokinase deficiency	KHK	3795	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111681	glutamate-cysteine ligase deficiency Aliases: gamma-glutamylcysteine synthetase deficiency hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency	Gclc	25283	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111681	glutamate-cysteine ligase deficiency Aliases: gamma-glutamylcysteine synthetase deficiency hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency	GCLC	2729	Homo sapiens (human)	Alliance of Genome Resources

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