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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 **3701 - 3725** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
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.S	446820	Xenopus laevis (African clawed frog)	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:0080561	congenital disorder of glycosylation Ii Aliases: congenital disorder of glycosylation 1i	alg2.L	446622	Xenopus laevis (African clawed frog)	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.L	446622	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0050579	glycogen storage disease XV Aliases: Glycogen storage disease 15 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogen storage disease type XV	gyg1.L gyg1.S	446485 779133	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:2747	glycogen storage disease Aliases: glycogenosis	gyg1.L gyg1.S	446485 779133	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:11727	facioscapulohumeral muscular dystrophy Aliases: Landouzy Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy Muscular dystrophy, Landouzy-Dejerine	large1	446213	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110637	muscular dystrophy-dystroglycanopathy type B6 Aliases: MDC1D MDDGB6 congenital muscular dystrophy LARGE-related congenital muscular dystrophy type 1D muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6	large1	446213	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111242	congenital muscular dystrophy-dystroglycanopathy type A6 Aliases: MDDGA6 Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6	large1	446213	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050580	hereditary lymphedema	calcrla	445508	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:3454	brain infarction	calcrla kcnk6 tpcn2	445508 504083 777614	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050535	exudative vitreoretinopathy Aliases: FEVR familial exudative vitreoretinopathy	cdh5	445471	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:3963	thyroid gland carcinoma Aliases: head and neck cancer, Thyroid	cdh5 kdr	445471 554230	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080555	congenital disorder of glycosylation Ic Aliases: congenital disorder of glycosylation 1c	alg6	445327	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:1074	kidney failure Aliases: renal failure	rhcg	445260	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0050758	metabolic acidosis	rhcg	445260	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:4500	hypokalemia Aliases: hypopotassemia potassium deficiency disorder	rhcg	445260	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:14219	renal tubular acidosis	rhbg rhcg	445260 496595	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0080557	congenital disorder of glycosylation Ie Aliases: congenital disorder of glycosylation 1e	dpm1	445202	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0070277	primary autosomal recessive microcephaly 15 Aliases: MCPH15 NEDMISBA neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities	mfsd2aa mfsd2ab	445176 492810	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110704	hypotrichosis 7 Aliases: Hypt7 Lah2 hypotrichosis, localized, autosomal recessive 2 total Mari type hypotrichosis,	lipia	445105	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	b4galt7	445022	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	b3galt6 b4galt7	445022 572324	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0070340	classic citrullinemia	ASS1	445	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110664	congenital myasthenic syndrome 3C Aliases: congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency	chrnd.L	444847	Xenopus laevis (African clawed frog)	Alliance of Genome Resources

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