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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 **126 - 150** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0112275	developmental and epileptic encephalopathy 93 Aliases: DEE93 IECEE3 infantile or early childhood epileptic encephalopathy 3	st6gal2	407846	Xenopus tropicalis (tropical clawed frog)
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)
DOID:83	cataract	gcnt2.2	100038221	Xenopus tropicalis (tropical clawed frog)
DOID:0060462	Desbuquois dysplasia Aliases: Desbuquois syndrome micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification	xylt1	100145490	Xenopus tropicalis (tropical clawed frog)
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	b3galt6	548849	Xenopus tropicalis (tropical clawed frog)
DOID:0081180	autosomal recessive intellectual developmental disorder 12	st3gal3	402789	Xenopus tropicalis (tropical clawed frog)
DOID:0111843	Paganini-Miozzo syndrome Aliases: MRXSPM	hs6st2	100496603	Xenopus tropicalis (tropical clawed frog)
DOID:9256	colorectal cancer	galnt12	100485011	Xenopus tropicalis (tropical clawed frog)
DOID:9351	diabetes mellitus Aliases: diabetes	ogt	553157	Xenopus tropicalis (tropical clawed frog)
DOID:0081210	autosomal recessive intellectual developmental disorder 46	ndst1	496577	Xenopus tropicalis (tropical clawed frog)
DOID:0070352	stress-induced childhood-onset neurodegeneration with variable ataxia and seizures Aliases: CONDSIAS	adprs	548938	Xenopus tropicalis (tropical clawed frog)
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)
DOID:0070253	congenital disorder of glycosylation type IIa Aliases: Alkuraya syndrome CDG IIa CDG2A CDGIIa CDGS2 carbohydrate-deficient glycoprotein syndrome, type II congenital disorder of glycosylation, type IIa mental retardation, growth retardation, prominent columella, and open mouth	mgat2 mgat2l	100493854 448439	Xenopus tropicalis (tropical clawed frog)
DOID:0080693	Noonan syndrome-like disorder with loose anagen hair 2	ppp1cb	496958	Xenopus tropicalis (tropical clawed frog)
DOID:2565	macular corneal dystrophy Aliases: Fehr corneal dystrophy MACULAR DYSTROPHY, CORNEAL, 1	chst5 chst6	100495636 496807	Xenopus tropicalis (tropical clawed frog)
DOID:12554	hemolytic-uremic syndrome Aliases: haemolytic-uraemic syndrome hemolytic uremic syndrome	c1galt1c1	448225	Xenopus tropicalis (tropical clawed frog)
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	b4galt7	100144979	Xenopus tropicalis (tropical clawed frog)
DOID:9409	diabetes insipidus	has2	100145711	Xenopus tropicalis (tropical clawed frog)
DOID:14067	Plasmodium falciparum malaria Aliases: Malaria fever, subtertian falciparum malaria malignant tertian fever	abo.1 abo.2 abo.3 abo.4	100497509 549437 549858 550054	Xenopus tropicalis (tropical clawed frog)
DOID:3312	bipolar disorder Aliases: Manic Bipolar Affective disorder Manic Depressive disorder Manic bipolar I disorder bipolar depression bipolar disorder manic phase manic depression manic disorder mixed bipolar disorder	cs	550067	Xenopus tropicalis (tropical clawed frog)
DOID:0060713	autosomal recessive congenital ichthyosis 4B Aliases: ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis	piga	100158632	Xenopus tropicalis (tropical clawed frog)
DOID:0060050	autoimmune disease of blood	XB5871033 c1galt1	100487794 100496837	Xenopus tropicalis (tropical clawed frog)
DOID:1287	cardiovascular system disease Aliases: disease of subdivision of hemolymphoid system	gys1	100490155	Xenopus tropicalis (tropical clawed frog)
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	b3galt6 b4galt7	100144979 548849	Xenopus tropicalis (tropical clawed frog)
DOID:2747	glycogen storage disease Aliases: glycogenosis	gyg1	394883	Xenopus tropicalis (tropical clawed frog)

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