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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 **3451 - 3475** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:0111232	congenital muscular dystrophy-dystroglycanopathy type A9 Aliases: MDDGA9 Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9	DAG1	1605	Homo sapiens (human)
DOID:4194	glucose metabolism disease Aliases: disorder of glucose metabolism	ACSL1 DGKA DGKB DGKG DHCR24 G6PC1 GCK HK1 HK2 HK3 HKDC1 IRS2 PIK3CB PIK3CD SLC2A2 TLR4	1606 1607 1608 1718 2180 2538 2645 3098 3099 3101 5291 5293 6514 7099 80201 8660	Homo sapiens (human)
DOID:1555	urticaria	ACE AGXT ALDH3A2 ALOX5 ARSA BST2 CAT CD38 DGKG ELOVL4 FCGR3B GPX1 HPGDS ICAM1 LTC4S PIGT PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLCG1 PLCG2 PTGS2 SDHB SDHC SELE VCAM1	1608 1636 189 2215 224 240 27306 2876 3383 4056 410 51604 5290 5291 5293 5294 5321 5335 5336 5743 6390 6391 6401 6785 684 7412 847 952	Homo sapiens (human)
DOID:3329	benign epilepsy with centrotemporal spikes Aliases: BCECTS benign Rolandic epilepsy benign childhood epilepsy with centrotemporal spike rolandic epilepsy sylvan seizures	ARSA ASAH1 EPM2A MDGA2 PLCB1	161357 23236 410 427 7957	Homo sapiens (human)
DOID:10964	cholesteatoma of middle ear Aliases: Cholesteatoma of middle ear and mastoid Cholesteatoma of middle ear and/or mastoid Cholesteatoma of the middle ear Epidermosis of ear Epidermosis of middle ear middle ear cholesteatoma	Il1r1 Tlr2 Tlr4 Tnf Trp53	16177 21898 21926 22059 24088	Mus musculus (house mouse)
DOID:11121	pulpitis Aliases: pulp stones	Il1r1 Tlr4	16177 21898	Mus musculus (house mouse)
DOID:2945	severe acute respiratory syndrome Aliases: SARS SARS-CoV infection	Abo Il1r1 Tlr2 Tnf	16177 21926 24088 80908	Mus musculus (house mouse)
DOID:0080600	COVID-19 Aliases: 2019 Novel Coronavirus (2019-nCoV) 2019-nCoV infection COVID19 SARS-CoV-2 infection Wuhan coronavirus infection Wuhan seafood market pneumonia virus infection	Abo Il1r1 Tnf	16177 21926 80908	Mus musculus (house mouse)
DOID:0060645	chronic recurrent multifocal osteomyelitis Aliases: CRMO chronic multifocal osteomyelitis	Il1r1	16177	Mus musculus (house mouse)
DOID:850	lung disease	Il18r1 Tlr2 Tlr4 Tnf	16182 21898 21926 24088	Mus musculus (house mouse)
DOID:612	primary immunodeficiency disease Aliases: hypoimmunity immune deficiency disorder immunodeficiency syndrome	Il6st Tlr1 Tlr2 Tlr4 Tlr6	16195 21897 21898 21899 24088	Mus musculus (house mouse)
DOID:0080596	hyper IgE recurrent infection syndrome 4	Il6st	16195	Mus musculus (house mouse)
DOID:11613	hyperandrogenism Aliases: hyperandrogenization syndrome	Il6st	16195	Mus musculus (house mouse)
DOID:9269	maple syrup urine disease Aliases: Ketoacidaemia branched chain ketoaciduria	BCKDHA BCKDHB CACNA2D2 CYB5R3 DBT DLD HADH LPL UMOD	1629 1727 1738 3033 4023 593 594 7369 9254	Homo sapiens (human)
DOID:13186	megaesophagus	AGA CALR ECI1 FUT3 GMPPA	1632 175 2525 29926 811	Homo sapiens (human)
DOID:9164	achalasia Aliases: Lack of reflex relaxation of lower oesophageal sphincter achalasia of cardia achalasia of esophagus cardiospasm esophageal achalasia hypertensive lower esophageal sphincter	AGA CALR ECI1 FUT3 GMPPA	1632 175 2525 29926 811	Homo sapiens (human)
DOID:0014667	disease of metabolism Aliases: metabolic disease	Ins1 Ins2 Ldha Pdha1 Pdha2 Pfkl Pfkm Pfkp Pkm	16333 16334 16828 18597 18598 18641 18642 18746 56421	Mus musculus (house mouse)
DOID:3587	pancreatic ductal carcinoma Aliases: malignant neoplasm of duct of Wirsung pancreatic duct cancer	Ins1 Ins2 Tymp	16333 16334 72962	Mus musculus (house mouse)
DOID:1920	hyperuricemia Aliases: Blood urate raized uricacidemia	Ins1 Ins2	16333 16334	Mus musculus (house mouse)
DOID:0111108	maturity-onset diabetes of the young type 10 Aliases: MODY10	Ins1 Ins2	16333 16334	Mus musculus (house mouse)
DOID:3892	insulinoma Aliases: Insulin-Producing tumor of Islet cells Islet cell adenoma	Ins1 Ins2	16333 16334	Mus musculus (house mouse)
DOID:535	sleep disorder Aliases: Non-organic sleep disorder	Ins1 Tfap2b	16333 21419	Mus musculus (house mouse)
DOID:11717	neonatal diabetes Aliases: diabetes mellitus syndrome in newborn infant neonatal diabetes mellitus	Ins2	16334	Mus musculus (house mouse)
DOID:2733	skin atrophy Aliases: Atrophoderma Atrophy - skin atrophic condition of skin	ACE CAT CD44 DCN DHCR24 GPI PIK3CA PIK3CB	1634 1636 1718 2821 5290 5291 847 960	Homo sapiens (human)
DOID:4776	rapidly progressive glomerulonephritis	ABO ACE CD44 DCN FCGR3B ICAM1 MRC1 VCAM1	1634 1636 2215 28 3383 4360 7412 960	Homo sapiens (human)

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