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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 **9026 - 9050** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0050921	pharynx squamous cell carcinoma	Clptm1l	218335	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5160	arteriosclerosis obliterans	Thpo	21832	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	B4galt7	218271	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111908	thrombophilia due to thrombomodulin defect Aliases: THBD-related bleeding disorder THBD-related coagulopathy THPH12 thrombomodulin-related bleeding disorder thrombomodulin-related coagulopathy	Thbd	21824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112206	developmental and epileptic encephalopathy 70 Aliases: DEE70 early infantile epileptic encephalopathy 70	Phactr1	218194	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112187	thyroid dyshormonogenesis 3 Aliases: TDH3 genetic defect in thyroid hormonogenesis 3	Tg	21819	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070273	hereditary nonpolyposis colorectal cancer type 6 Aliases: HNPCC6	Tgfbr2	21813	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110214	cleft soft palate Aliases: cleft velum cleft velum palatinum soft cleft palate	Tgfbr2	21813	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070234	Loeys-Dietz syndrome 2 Aliases: AAT3 LDS2 Marfan syndrome type II familial throacic aortic aneurysm 3	Tgfbr2	21813	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5585	Ferguson-Smith tumor Aliases: Multiple self-healing epithelioma of Ferguson-Smith	Tgfbr1	21812	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070235	Loeys-Dietz syndrome 1 Aliases: AAT5 Furlong syndrome LDS1 familial throacic aortic aneurysm 5	Tgfbr1	21812	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112050	non-syndromic X-linked intellectual disability 63 Aliases: ACSL4-related intellectual disability MRX63 MRX68 X-linked mental retardation 63 X-linked mental retardation 68	ACSL3 ACSL4	2181 2182	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110070	arrhythmogenic right ventricular dysplasia 1 Aliases: ARVC1 Uhl anomaly arrhythmogenic right ventricular cardiomyopathy 1	Tgfb3	21809	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070236	Loeys-Dietz syndrome 5 Aliases: LDS5 RNHF Reinhoff syndrome	Tgfb3	21809	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070233	Loeys-Dietz syndrome 4 Aliases: Aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations LDS4	Tgfb2	21808	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5637	pancreatic adenosquamous carcinoma Aliases: Adenosquamous carcinoma of pancreas	Tgfb2	21808	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050466	Loeys-Dietz syndrome	Tgfb2 Tgfbr1 Tgfbr2	21808 21812 21813	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5773	oral submucous fibrosis Aliases: Oral cavity Submucous Fibrosis Oral submucosal fibrosis Oral submucosal fibrosis, including of tongue	Tgfb1 Trp53	21803 22059	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14501	Sjogren-Larsson syndrome Aliases: FALDH deficiency SLS Sjogren Larsson syndrome Sjogren-Larsson's syndrome fatty acid alcohol oxidoreductase deficiency	ACSL3 ACSL4 ALDH3A1 ALDH3A2 ALDH3B1 ALDH3B2	218 2181 2182 221 222 224	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080446	developmental and epileptic encephalopathy 66 Aliases: DEE66 early infantile epileptic encephalopathy 66	Pacs2	217893	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110809	hereditary spastic paraplegia 57 Aliases: SPG57 autosomal recessive spastic paraplegia 57 autosomal recessive spastic paraplegia type 57	Tfg	21787	Mus musculus (house mouse)	Alliance of Genome Resources
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	217734	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N Aliases: LGMD2N muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related	Pomt2	217734	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112380	muscular dystrophy-dystroglycanopathy type B2 Aliases: MDDGB2 congenital muscular dystrophy POMT2-related	Pomt2	217734	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111083	Fanconi anemia complementation group D2 Aliases: FA4 FAD2 FANCD2 Fanconi pancytopenia type 4	FANCD2	2177	Homo sapiens (human)	Alliance of Genome Resources

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