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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 **7926 - 7942** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0111240	congenital muscular dystrophy-dystroglycanopathy type A2 Aliases: MDDGA2 Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2	pomt2	100490100	Xenopus tropicalis (tropical clawed frog)
DOID:8466	retinal degeneration Aliases: degeneration of retina	cs	550067	Xenopus tropicalis (tropical clawed frog)
DOID:9282	ocular hypertension	tpi1	100038162	Xenopus tropicalis (tropical clawed frog)
DOID:4079	heart valve disease Aliases: Valvular heart disease	galnt1	594943	Xenopus tropicalis (tropical clawed frog)
DOID:3827	congenital diaphragmatic hernia Aliases: Diaphragmatic Hernia	ndst1	496577	Xenopus tropicalis (tropical clawed frog)
DOID:0050571	congenital disorder of glycosylation type II	galnt2	100488284	Xenopus tropicalis (tropical clawed frog)
DOID:0050813	spondyloepiphyseal dysplasia with congenital joint dislocations Aliases: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia humero-spinal dysostosis humerospinal dysostosis	chst3	100492673	Xenopus tropicalis (tropical clawed frog)
DOID:5844	myocardial infarction Aliases: Myocardial infarct heart attack	cs	550067	Xenopus tropicalis (tropical clawed frog)
DOID:0070129	autosomal recessive cutis laxa type IID Aliases: ARCL2D	st6gal2	407846	Xenopus tropicalis (tropical clawed frog)
DOID:11151	cholecystolithiasis	ugt1a1 ugt1a6	100135191 100489505	Xenopus tropicalis (tropical clawed frog)
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	pigv	100380028	Xenopus tropicalis (tropical clawed frog)
DOID:1612	breast cancer Aliases: breast tumor malignant neoplasm of breast malignant tumor of the breast mammary cancer mammary tumor primary breast cancer	ugt1a1 ugt1a6	100135191 100489505	Xenopus tropicalis (tropical clawed frog)
DOID:9675	pulmonary emphysema	fut8	407913	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:0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2 Aliases: developmental and epileptic encephalopathy 20 early infantile epileptic encephalopathy 20 glycosylphosphatidylinositol biosynthesis defect 4	piga	100158632	Xenopus tropicalis (tropical clawed frog)
DOID:1324	lung cancer	hs3st2	100492586	Xenopus tropicalis (tropical clawed frog)
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	alg10	548946	Xenopus tropicalis (tropical clawed frog)

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