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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 **6901 - 6925** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0081443	Stolerman neurodevelopmental syndrome	Kdm6b	216850	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12176	goiter Aliases: goitre	Tek Tg	21687 21819	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050792	multiple cutaneous and mucosal venous malformations Aliases: VMCM cutaneomucosal venous malformation mucocutaneous venous malformations	Tek	21687	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110869	congenital stationary night blindness 1E Aliases: CSNB1E congenital stationary night blindness 1E autosomal recessive	Gpr179	217143	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111506	palmoplantar keratoderma-esophageal carcinoma syndrome Aliases: Bennion-Patterson syndrome Howell-Evans syndrome TOC keratosis palmaris et plantaris with esophageal cancer keratosis palmoplantaris-esophageal carcinoma syndrome palmoplantar hyperkeratosis-esophageal carcinoma syndrome palmoplantar keratoderma with esophageal cancer tylosis with esophageal cancer tylosis-oesophageal carcinoma syndrome	Rhbdf2	217344	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070253	congenital disorder of glycosylation type IIa Aliases: Alkuraya syndrome CDG IIa CDG2A CDGIIa CDGS2 carbohydrate-deficient glycoprotein syndrome, type II congenital disorder of glycosylation, type IIa mental retardation, growth retardation, prominent columella, and open mouth	Mgat2	217664	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13636	Fanconi anemia Aliases: Fanconi anaemia Fanconi pancytopenia Fanconi panmyelopathy Fanconi's anaemia Fanconi's anemia	BRCA2 FANCD2 FANCG FANCM FLT3LG IFNG IL10 PRF1 RAD51C TNF	2177 2189 2323 3458 3586 5551 57697 5889 675 7124	Homo sapiens (human)	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
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: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: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:0080446	developmental and epileptic encephalopathy 66 Aliases: DEE66 early infantile epileptic encephalopathy 66	Pacs2	217893	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: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:0050466	Loeys-Dietz syndrome	Tgfb2 Tgfbr1 Tgfbr2	21808 21812 21813	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: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: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: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:5585	Ferguson-Smith tumor Aliases: Multiple self-healing epithelioma of Ferguson-Smith	Tgfbr1	21812	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:0070273	hereditary nonpolyposis colorectal cancer type 6 Aliases: HNPCC6	Tgfbr2	21813	Mus musculus (house mouse)	Alliance of Genome Resources

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