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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **76 - 100** of **5716** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:1485	cystic fibrosis Aliases: CF mucoviscidosis	Cftr	24255	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112223	developmental and epileptic encephalopathy 89 Aliases: DEE89 early infantile epileptic encephalopathy 89	GAD1	2571	Homo sapiens (human)	Alliance of Genome Resources
DOID:14250	Down syndrome Aliases: Complete trisomy 21 syndrome Down's syndrome Down's syndrome - trisomy 21 Downs syndrome G Trisomy trisomy 21 syndrome	pad-2	259529	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111533	gnathodiaphyseal dysplasia Aliases: GDD Levin syndrome 2 gnathodiaphyseal sclerosis osteogenesis imperfecta with unusual skeletal lesions osteogenesis imperfecta, Levin type	Ano5	233246	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111816	syndactyly type 1 Aliases: SDTY1 chromosome 2q35 duplication syndrome syndactyly, type 1, with or without craniosynostosis	IHH	3549	Homo sapiens (human)	Alliance of Genome Resources
DOID:3413	alpha-mannosidosis Aliases: Alpha-D-mannosidosis alpha-mannosidase deficiency deficiency of alpha-mannosidase	Man2b1	17159	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3324	mood disorder Aliases: episodic mood disorder	AVPR1B	553	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070120	Meckel syndrome 6 Aliases: MKS6 Meckel-Gruber syndrome, type 6	CC2D2A	57545	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112140	retinitis pigmentosa 83 Aliases: RP83	ARL3	403	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060740	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Aliases: methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency methylmalonic aciduria mut type vitamin B12-unresponsive methylmalonic aciduria	MMUT	4594	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060286	combined oxidative phosphorylation deficiency	TEFM	79736	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110749	type 1 diabetes mellitus 10 Aliases: IDDM10 Insulin-Dependent Diabetes Mellitus 10	IL2RA	3559	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060161	Kennedy's disease Aliases: Kennedy disease SBMA Spinobulbar Muscular Atrophy X-Linked Bulbo-Spinal Atrophy X-linked Spinal and Bulbar Muscular Atrophy spinal bulbar muscular atrophy	AR	367	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112343	hereditary spastic paraplegia 82 Aliases: SPG82 spastic paraplegia 82 autosomal recessive	PCYT2	5833	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070068	autosomal dominant intellectual developmental disorder 38 Aliases: MRD38 PRELDS autosomal dominant mental retardation 38 autosomal dominant non-syndromic intellectual disability 38 psychomotor retardation, epilepsy, and language disability syndrome	EEF1A2	1917	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050425	restless legs syndrome Aliases: WED Willis-Ekbom disease Wittmaack-Ekbom syndrome	Drd3	13490	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11512	Budd-Chiari syndrome Aliases: hepatic vein thrombosis	F5	2153	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060550	ablepharon macrostomia syndrome	TWIST2	117581	Homo sapiens (human)	Alliance of Genome Resources
DOID:9655	oral mucosa leukoplakia	Tp53	24842	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2219	Glanzmann's thrombasthenia Aliases: BDPLT2 Glanzmann thrombasthenia Glycoprotein IIb/IIIa defect Thrombocytasthenia deficiency of GP IIb-IIIa complex deficiency of glycoprotein complex IIb-IIIa deficiency of platelet fibrinogen receptor platelet glycoprotein IIb-IIIa deficiency platelet-type bleeding disorder 2 thrombasthenia of Glanzmann and Naegeli	ITGA2 ITGA2B ITGB3	3673 3674 3690	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110033	autosomal recessive Alport syndrome	COL4A3 COL4A4	1285 1286	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070579	spermatogenic failure 80 Aliases: SPGF80	DRC1	92749	Homo sapiens (human)	Alliance of Genome Resources
DOID:1883	hepatitis C Aliases: NANBH Viral hepatitis C chronic hepatitis C hepatitis C infection hepatitis nonA nonB	AFP CCL5 CCR5 HLA-DQA1 HLA-DQB1 HLA-DRB1 HLA-G IFNAR1 IFNG IFNL1 IL10 IL12A IL4 IL6 KIR3DL1 KIR3DS1 LDLR MBL2 PDCD1 SAMHD1 TLR3 TLR9	1234 174 25939 282618 3117 3119 3123 3135 3454 3458 3565 3569 3586 3592 3811 3813 3949 4153 5133 54106 6352 7098	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110431	dilated cardiomyopathy 1I Aliases: CMD1I	DES	1674	Homo sapiens (human)	Alliance of Genome Resources
DOID:8544	chronic fatigue syndrome Aliases: CFS Myalgic encephalitis Myalgic encephalomyelitis Postviral fatigue syndrome	HLA-DQA1 KIR3DS1 SLC6A4 TRPC6	3117 3813 6532 7225	Homo sapiens (human)	Alliance of Genome Resources

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