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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 **1576 - 1600** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
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	gyg1a gyg1b	406831 415152	Danio rerio (zebrafish)
DOID:7926	epithelial malignant thymoma Aliases: Squamoid Thymoma Thymoma, epithelial Well differentiated thymic carcinoma	LY75	4065	Homo sapiens (human)
DOID:5530	thymus squamous cell carcinoma Aliases: Epidermoid Thymic carcinoma	LY75	4065	Homo sapiens (human)
DOID:0111233	congenital muscular dystrophy-dystroglycanopathy A14 Aliases: MDDGA14 Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14	Gmppb	40599	Drosophila melanogaster (fruit fly)
DOID:0112377	muscular dystrophy-dystroglycanopathy type B14 Aliases: MDDGB14 congenital muscular dystrophy GMPPB-related	Gmppb	40599	Drosophila melanogaster (fruit fly)
DOID:0110294	autosomal recessive limb-girdle muscular dystrophy type 2T Aliases: LGMD2T MDDGC14 muscular dystrophy limb-girdle type 2T muscular dystrophy-dystroglycanopathy (limb-girdle) type C14 muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related	Gmppb	40599	Drosophila melanogaster (fruit fly)
DOID:11367	congenital aphakia Aliases: APHAKIA, CONGENITAL PRIMARY Congenital absence of lens	CYP4F3 NTM	4051 50863	Homo sapiens (human)
DOID:0050456	Buruli ulcer disease Aliases: Bairnsdale ulcer Daintree ulcer Mossman ulcer Searl ulcer Searle's ulcer	LTA4H	4048	Homo sapiens (human)
DOID:0080736	Ehlers-Danlos syndrome musculocontractural type 1	chst14	404732	Danio rerio (zebrafish)
DOID:0080950	alopecia-mental retardation syndrome 4	LSS	4047	Homo sapiens (human)
DOID:0080582	hypotrichosis 14	LSS	4047	Homo sapiens (human)
DOID:6652	diffuse idiopathic skeletal hyperostosis Aliases: Ankylosing vertebral hyperostosis DISH Disseminated idiopathic skeletal hyperostosis	CD38 LSS	4047 952	Homo sapiens (human)
DOID:0111411	exudative vitreoretinopathy 4 Aliases: EVR4	LRP5	4041	Homo sapiens (human)
DOID:0110937	autosomal dominant osteopetrosis 1 Aliases: OPTA1 autosomal dominant osteopetrosis type 1	LRP5	4041	Homo sapiens (human)
DOID:0080037	Worth syndrome Aliases: Worth's syndrome autosomal dominant endosteal hyperostosis autosomal dominant osteosclerosis benign form of Worth hyperostosis corticalis generalisata with torus platinus	LRP5	4041	Homo sapiens (human)
DOID:0080567	congenital disorder of glycosylation Ip Aliases: congenital disorder of glycosylation 1p	Alg11	40402	Drosophila melanogaster (fruit fly)
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria Aliases: AMOXAD alpha-aminoadipic aciduria	dhtkd1.L	403360	Xenopus laevis (African clawed frog)
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.L	403360	Xenopus laevis (African clawed frog)
DOID:332	amyotrophic lateral sclerosis Aliases: ALS Lou Gehrig's disease motor neuron disease, bulbar	sarm1	403143	Danio rerio (zebrafish)
DOID:0112361	spondylocostal dysostosis 3 Aliases: SCDO3 autosomal recessive spondylocostal dysostosis 3	fng	40314	Drosophila melanogaster (fruit fly)
DOID:1168	familial hyperlipidemia Aliases: familial hyperlipoproteinemia hyperlipemia	rgn	403070	Danio rerio (zebrafish)
DOID:10534	stomach cancer Aliases: gastric cancer gastric neoplasm	fut11 parp1 rgn	403070 560788 568888	Danio rerio (zebrafish)
DOID:0110669	congenital myasthenic syndrome 14 Aliases: CMS14 CMSTA3 congenital myasthenic syndrome 14, with tubular aggregates congenital myasthenic syndrome with tubular aggregates 3	alg2	403068	Danio rerio (zebrafish)
DOID:0080561	congenital disorder of glycosylation Ii Aliases: congenital disorder of glycosylation 1i	alg2	403068	Danio rerio (zebrafish)
DOID:0060256	Dowling-Degos disease Aliases: dark dot disease reticular pigment anomaly of flexures	pofut1 poglut1	403029 641495	Danio rerio (zebrafish)

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