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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 **2001 - 2025** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0112378	muscular dystrophy-dystroglycanopathy type B3 Aliases: MDDGB3 congenital muscular dystrophy POMGNT1-related	Pomgnt1	68273	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111236	congenital muscular dystrophy-dystroglycanopathy type A3 Aliases: MDDGA3 Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3	Pomgnt1	68273	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O Aliases: LGMD2O MDDGC3 muscular dystrophy-dystroglycanopathy (limb-girdle) type C3 muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related	Pomgnt1	68273	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080440	developmental and epileptic encephalopathy 3 Aliases: early infantile epileptic encephalopathy 3	Slc25a22	68267	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080258	autosomal recessive congenital ichthyosis 14	SULT2B1	6820	Homo sapiens (human)	Alliance of Genome Resources
DOID:5744	ovary serous adenocarcinoma Aliases: malignant ovarian serous tumor serous carcinoma of Ovary	BSG TP53	682 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110704	hypotrichosis 7 Aliases: Hypt7 Lah2 hypotrichosis, localized, autosomal recessive 2 total Mari type hypotrichosis,	Liph	681694	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112209	developmental and epileptic encephalopathy 73 Aliases: DEE73 early infantile epileptic encephalopathy 73	Rnf13	681578	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111003	Joubert syndrome 8 Aliases: JBTS8	Arl13b	68146	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112139	nuclear type mitochondrial complex I deficiency 35 Aliases: MC1DN35	Ndufb10	681418	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110925	familial hemophagocytic lymphohistiocytosis 5 Aliases: FHL5 HLH5 HPLH5	STXBP2	6813	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080436	developmental and epileptic encephalopathy 4 Aliases: DEE4 early infantile epileptic encephalopathy 4	STXBP1	6812	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112367	Coffin-Siris syndrome 8 Aliases: CSS8	Smarcc2	68094	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080581	hyperekplexia 4	Atad1	67979	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070122	Meckel syndrome 8 Aliases: MKS8 Meckel-Gruber syndrome, type 8	Tctn2	67978	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110993	Joubert syndrome 24 Aliases: JBTS24	Tctn2	67978	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070114	Niemann-Pick disease type C2 Aliases: NPC2	Npc2	67963	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111849	osteogenesis imperfecta type 20 Aliases: OI20 osteogenesis imperfecta type XX	Mesd	67943	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080467	developmental and epileptic encephalopathy 2 Aliases: DEE2 EIEE2 X-linked infantile spasm syndrome 2 early infantile epileptic encephalopathy 2	CDKL5	6792	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070242	primary coenzyme Q10 deficiency 5 Aliases: COQ10D5 coenzyme Q10 deficiency, primary, 5 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	Coq9	67914	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050730	coenzyme Q10 deficiency disease Aliases: COENZYME Q10 DEFICIENCY, PRIMARY	Coq2 Coq9	67914 71883	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111258	pentosuria Aliases: L-xylulose reductase deficiency L-xylulosuria PNTSU essential pentosuria xylitol dehydrogenase deficiency	Dcxr	67880	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080785	Brown-Vialetto-Van Laere syndrome 1	slc52a3-1	678609	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080632	Fazio-Londe disease Aliases: riboflavin transporter deficiency neuronopathy	slc52a3-1	678609	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111970	immunodeficiency 10 Aliases: CID due to STIM1 deficiency IMD10 STIM1 deficiency combined immunodeficiency due to STIM1 deficiency immune dysfunction with T-cell inactivation due to calcium entry defect 2	STIM1	6786	Homo sapiens (human)	Alliance of Genome Resources

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