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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 **4251 - 4275** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:0112263	hypoinsulinemic hypoglycemia with hemihypertrophy Aliases: HIHGHH hypoinsulinemic hypoglycemia and body hemihypertrophy	AKT2	208	Homo sapiens (human)
DOID:0080563	congenital disorder of glycosylation Ik Aliases: congenital disorder of glycosylation 1k	Alg1	208211	Mus musculus (house mouse)
DOID:0080556	congenital disorder of glycosylation Id Aliases: congenital disorder of glycosylation 1d	Alg3	208624	Mus musculus (house mouse)
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	209692	Mus musculus (house mouse)
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria Aliases: AMOXAD alpha-aminoadipic aciduria	Dhtkd1	209692	Mus musculus (house mouse)
DOID:676	juvenile rheumatoid arthritis Aliases: Pauciarticular onset juvenile chronic arthritis Still's disease acute juvenile rheumatoid arthritis juvenile chronic polyarthritis juvenile idiopathic arthritis monarticular juvenile rheumatoid arthritis pauciarticular juvenile arthritis systemic juvenile rheumatoid arthritis	Lacc1	210808	Mus musculus (house mouse)
DOID:0110728	neuronal ceroid lipofuscinosis 5 Aliases: CLN5 neuronal ceroid lipofuscinosis 5 variable age of onset	Cln5	211286	Mus musculus (house mouse)
DOID:0080537	hypermanganesemia with dystonia 2	Slc39a14	213053	Mus musculus (house mouse)
DOID:4624	Ollier disease Aliases: DYSCHONDROPLASIA ENCHONDROMATOSIS, MULTIPLE Enchondromatosis with haemangiomata Kast's syndrome OSTEOCHONDROMATOSIS	CHST3 EXT1 EXT2 HSPG2 IDH1 IDH2	2131 2132 3339 3417 3418 9469	Homo sapiens (human)
DOID:3817	cranial nerve palsy Aliases: Cranial nerve Paralysis	EXT1 EXT2 IDH1 IDH2 PTEN SDHB SDHC SDHD	2131 2132 3417 3418 5728 6390 6391 6392	Homo sapiens (human)
DOID:5656	cranial nerve disease Aliases: Cranial nerve disorder disorder of cranial nerve	EXT1 EXT2 IDH1 IDH2 PTEN SDHB SDHC SDHD	2131 2132 3417 3418 5728 6390 6391 6392	Homo sapiens (human)
DOID:0090015	Cenani-Lenz syndactyly syndrome Aliases: syndactyly type 7	EXT1 EXT2 IDH1 IDH2	2131 2132 3417 3418	Homo sapiens (human)
DOID:0060221	Maffucci syndrome	EXT1 EXT2 IDH1 IDH2	2131 2132 3417 3418	Homo sapiens (human)
DOID:0060847	Leri-Weill dyschondrosteosis	EXT1 EXT2	2131 2132	Homo sapiens (human)
DOID:2917	cryoglobulinemia Aliases: Cryoimmunoglobulinaemia	CD44 EXT1 FCGR3B TNF VCAM1	2131 2215 7124 7412 960	Homo sapiens (human)
DOID:2602	chondroma Aliases: central Chondroma	AMACR EXT1 IDH1 IDH2 PIGA PIK3CA PIK3CB PIK3CD PIK3CG SDHB SMUG1	2131 23583 23600 3417 3418 5277 5290 5291 5293 5294 6390	Homo sapiens (human)
DOID:14415	Legg-Calve-Perthes disease Aliases: Calve - Perthes' disease Coxa plana Juvenile osteochond-hip/pelvis Juvenile osteochondrosis of hip and/or pelvis Perthe's disease Perthes disease juvenile osteochondrosis of hip and pelvis osteochondrosis of Legg-Calve-Perthes pseudocoxalgia	EXT1 GNPTAB INPP5K NAGLU SLC2A10	2131 4669 51763 79158 81031	Homo sapiens (human)
DOID:4890	juvenile myoclonic epilepsy	ALDH5A1 EXT1 NPL	2131 7915 80896	Homo sapiens (human)
DOID:9063	Ritter's disease Aliases: Dermatitis exfoliativa neonatorum Pemphigus neonatorum Ritter disease Scalded skin syndrome Staphylococcal scalded skin syndrome Toxic epidermal necrolysis, subcorneal type	EXT1	2131	Homo sapiens (human)
DOID:0080508	Cornelia de Lange syndrome 4 Aliases: CDLS4 Cornelia De Lange syndrome 4 with or without midline brain defects	EXT1	2131	Homo sapiens (human)
DOID:4998	trichorhinophalangeal syndrome type II Aliases: Langer-Giedion syndrome Trichorhinophalangeal dysplasia type II trichorhinophalangeal syndrome type 2	EXT1	2131	Homo sapiens (human)
DOID:11991	osteopoikilosis	EXT1	2131	Homo sapiens (human)
DOID:0060285	parietal foramina Aliases: Caitlin marks enlarged parietal foramina hereditary cranium bifidum	CAT EXT2 QTRT1 UGT8	2132 7368 81890 847	Homo sapiens (human)
DOID:4157	secondary syphilis Aliases: secondary syphilis of viscera or bone	CD14 EXTL3	2137 929	Homo sapiens (human)
DOID:0060563	Char syndrome	Tfap2b	21419	Mus musculus (house mouse)

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