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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 **176 - 200** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:1059	intellectual disability	ndst1 ndst2 ndst3 ndst4	100145653 100217321 100380006 496577	Xenopus tropicalis (tropical clawed frog)
DOID:0050852	limb ischemia	cs	550067	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: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	394883	Xenopus tropicalis (tropical clawed frog)
DOID:0050700	cardiomyopathy Aliases: Cardiomyopathies	pomt1	448433	Xenopus tropicalis (tropical clawed frog)
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	b4galt7	100144979	Xenopus tropicalis (tropical clawed frog)
DOID:0080572	congenital disorder of glycosylation Iw Aliases: congenital disorder of glycosylation 1w	stt3a	407861	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: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	100498555	Xenopus tropicalis (tropical clawed frog)
DOID:0112382	muscular dystrophy-dystroglycanopathy type C8 Aliases: LGMDR24 MDDGC2 autosomal recessive limb-girdle muscular dystrophy 24 muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related	pomgnt2	496628	Xenopus tropicalis (tropical clawed frog)
DOID:0111843	Paganini-Miozzo syndrome Aliases: MRXSPM	hs6st2	100496603	Xenopus tropicalis (tropical clawed frog)
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	100488466	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:9409	diabetes insipidus	has2	100145711	Xenopus tropicalis (tropical clawed frog)
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	pomgnt1 st3gal3	100158594 402789	Xenopus tropicalis (tropical clawed frog)
DOID:9256	colorectal cancer	galnt12	100485011	Xenopus tropicalis (tropical clawed frog)
DOID:0080560	congenital disorder of glycosylation Ih Aliases: congenital disorder of glycosylation 1h	alg8	548388	Xenopus tropicalis (tropical clawed frog)
DOID:9351	diabetes mellitus Aliases: diabetes	ogt	553157	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:6000	congestive heart failure Aliases: CHF Cardiac Failure Congestive Congestive heart disease Weak heart	cs ogt ppp1cc	407879 550067 553157	Xenopus tropicalis (tropical clawed frog)
DOID:0110242	cataract 13 with adult i phenotype Aliases: CTRCT13	gcnt2.2.L gcnt2.2.S	432177 432275	Xenopus laevis (African clawed frog)
DOID:3319	lymphangioleiomyomatosis Aliases: lung lymphangioleiomyomatosis lymphangiomyomatosis pulmonary lymphangioleiomyomatosis	gapdh.S	380259	Xenopus laevis (African clawed frog)

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