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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 **3401 - 3425** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0112381	muscular dystrophy-dystroglycanopathy type C12 Aliases: LGMD due to POMK deficiency Limb-girdle muscular dystrophy due to POMK deficiency MDDGC12 muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related	pomk.L	496338	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0040090	autoimmune gastritis	ATP4B	496	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081219	autosomal recessive intellectual developmental disorder 57	mboat7.L	495497	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0112379	muscular dystrophy-dystroglycanopathy type B4 Aliases: MDDGB4 congenital muscular dystrophy FKTN-related	fktn.S	495324	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0050559	Fukuyama congenital muscular dystrophy	fktn.S	495324	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0110284	autosomal recessive limb-girdle muscular dystrophy type 2L Aliases: LGMD2L muscular dystrophy, limb-girdle, type 2L	fktn.S	495324	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0110444	dilated cardiomyopathy 1X Aliases: CMD1X dilated cardiomyopathy with mild or no proximal muscle weakness	fktn.S	495324	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0110443	dilated cardiomyopathy 1B	fktn.S	495324	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0110296	autosomal recessive limb-girdle muscular dystrophy type 2M Aliases: LGMD2M MDDGC4 muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4	fktn.S	495324	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0111391	mucopolysaccharidosis IVA Aliases: GALNS deficiency MPS IVA MPS4A Morquio A disease Morquio syndrome A	galns.L	495239	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:1056	oculocerebrorenal syndrome Aliases: Lowe syndrome lowe oculocerebrorenal syndrome oculocerebrorenal syndrome of Lowe	OCRL	4952	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060230	basal ganglia calcification Aliases: Fahr disease	slc20a2.L	495011	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0050675	Birk-Barel syndrome Aliases: Birk-Barel mental retardation dysmorphism syndrome	kcnk9.L	494803	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:8866	actinic keratosis Aliases: SK - Solar keratosis Senile hyperkeratosis Solar keratosis actinic (Solar) Keratosis	KNSTRN OCA2 TGFB1	4948 7040 90417	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080319	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia Aliases: XMEN	magt1.L	494750	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0111839	congenital disorder of glycosylation Icc Aliases: congenital disorder of glycosylation type Icc	magt1.L	494750	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0110698	hypotrichosis 1 Aliases: Hhs Hts Hypt1 hereditary generalized hypotrichosis simplex	Apcdd1	494504	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2566	corneal dystrophy	Tacstd2	494343	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110170	Charcot-Marie-Tooth disease axonal type 2Q Aliases: CMT2Q Charcot-Marie-Tooth neuropathy type 2Q autosomal dominant Charcot-Marie-Tooth disease type 2Q autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q	dhtkd1	494076	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria Aliases: AMOXAD alpha-aminoadipic aciduria	dhtkd1	494076	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111666	proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Aliases: EPV Fowler syndrome Fowler vasculopathy PVHH cerebral proliferative glomeruloid vasculopathy encephaloclastic proliferative vasculopathy hydranencephaly, Fowler type hydrocephaly/hydranencephaly due to cerebral vasculopathy proliferative vasculopathy and hydranencephaly/hydrocephaly	slc7a2	494041	Danio rerio (zebrafish)	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	ext1a ext1b ext1c ext2 extl3	493780 493783 497279 497280 497281	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050700	cardiomyopathy Aliases: Cardiomyopathies	asah2 pomt1	493602 569769	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0112295	spondylometaphyseal dysplasia	acp5	493572	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:10605	short bowel syndrome Aliases: acquired short bowel syndrome short gut syndrome	clmp	493539	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources

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