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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 **1826 - 1850** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
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	botv sotv ttv	36614 37198 3772101	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111063	hyperphosphatemic familial tumoral calcinosis Aliases: HFTC HHS PHPTC cortical hyperostosis with hyperphosphatemia familial Teutschlaender disease familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome hypercalcemic tumoral calcinosis hyperostosis with hyperphosphatemia hyperphosphatemia hyperostosis hyperphosphatemia hyperostosis syndrome hyperphosphatemia tumoral calcinosis lipocalcinogranulomatosis morbus Teutschlaender primary hyperphosphatemic tumoral calcinosis tumoral calcinosis with hyperphosphatemia	Galnt3 Kl	366061 83504	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:28	endocrine system disease	beta4GalNAcTA	36585	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2986	IgA glomerulonephritis Aliases: Berger's IgA or IgG nephropathy Focal Glomerulonephritis IgA nephropathy primary IgA nephropathy segmental glomerulonephritis	beta4GalNAcTA	36585	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070256	congenital disorder of glycosylation type IId Aliases: CDG IId CDG2D CDGIId	beta4GalNAcTA	36585	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2377	multiple sclerosis Aliases: Generalized multiple sclerosis insular sclerosis	Tl beta4GalNAcTA beta4GalNAcTB	36585 43222 43425	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	ATP6AP2 Alg1 Alg3 Pmm2 beta4GalNAcTA	36585 37754 39436 41104 42146	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050877	pancreatic agenesis Aliases: Agenesis of the dorsal pancreas partial pancreatic agenesis	PDX1	3651	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111103	maturity-onset diabetes of the young type 4 Aliases: MODY type 4 MODY4	PDHX PDX1	3651 8050	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	B4galt7	364675	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060849	osteoporosis-pseudoglioma syndrome Aliases: OPPG ocular form of osteogenesis imperfecta	INPPL1 LRP5	3636 4041	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:9857	interstitial keratitis	INPP5D	3635	Homo sapiens (human)	DisGeNET
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	363464	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060713	autosomal recessive congenital ichthyosis 4B Aliases: ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis	Piga	363464	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060284	paroxysmal nocturnal hemoglobinuria	Piga	363464	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080573	congenital disorder of glycosylation Ix Aliases: congenital disorder of glycosylation 1x	Stt3b	363160	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080572	congenital disorder of glycosylation Iw Aliases: congenital disorder of glycosylation 1w	Stt3a Stt3b	363160 500972	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070014	autosomal dominant dyskeratosis congenita 1 Aliases: DKCA1 Dyskeratosis Congenita, Scoggins Type	INPP4A	3631	Homo sapiens (human)	DisGeNET
DOID:0111108	maturity-onset diabetes of the young type 10 Aliases: MODY10	INS	3630	Homo sapiens (human)	Alliance of Genome Resources
DOID:3181	oligodendroglioma Aliases: oligodendroglial neoplasm oligodendroglial tumor	Ptges3	362809	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O Aliases: LGMD2O MDDGC3 muscular dystrophy-dystroglycanopathy (limb-girdle) type C3 muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related	Pomgnt1	362567	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112378	muscular dystrophy-dystroglycanopathy type B3 Aliases: MDDGB3 congenital muscular dystrophy POMGNT1-related	Pomgnt1	362567	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111236	congenital muscular dystrophy-dystroglycanopathy type A3 Aliases: MDDGA3 Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3	Pomgnt1	362567	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050453	lissencephaly	Pomgnt1 Pomt1 Pomt2	362567 688673 84430	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080555	congenital disorder of glycosylation Ic Aliases: congenital disorder of glycosylation 1c	Alg6	362547	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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