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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 **4776 - 4800** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:3010	lobular neoplasia Aliases: Lobular Intraepithelial Neoplasia lobular carcinoma in situ	CYP2B6 CYP2C19 EPHX2 FUCA1 HPRT1 PTGS2 SMUG1	1555 1557 2053 23583 2517 3251 5743	Homo sapiens (human)	DisGeNET
DOID:11198	DiGeorge syndrome Aliases: 22q11.2 deletion syndrome DiGeorge sequence DiGeorge's syndrome Pharyngeal pouch syndrome	Ndst1	15531	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12716	newborn respiratory distress syndrome Aliases: HMD - Hyaline membrane disease Neonatal respiratory Distress syndrome hyaline membrane disease pulmonary hyaline membrane disease pulmonary hypoperfusion syndrome of newborn respiratory distress syndrome of newborn	Ndst1	15531	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081210	autosomal recessive intellectual developmental disorder 46	Ndst1	15531	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14227	azoospermia	Ndst1 Ndst2 Ndst3 Ndst4	15531 17423 64580 83398	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3827	congenital diaphragmatic hernia Aliases: Diaphragmatic Hernia	Htr2a Igf2 Ndst1 Tnf	15531 15558 16002 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13189	gout Aliases: Articular gout Gouty arthropathy gouty arthritis	ADRB3 ALOX5 BCKDHA CD14 CNTN5 CYP2C8 CYP2E1 CYP4F3 G6PC1 HPRT1 IL1R1 INPP5D MACROD1 PFKM PKD2 PRPS1 PYGM SLC37A4 TPST1 UMOD	155 1558 1571 240 2538 2542 28992 3251 3554 3635 4051 5213 5311 53942 5631 5837 593 7369 8460 929	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0112127	HRPT-related hyperuricemia Aliases: HPRT deficiency, grade I HPRT partial deficiency HPRT-related gout HPRT-related hyperuricemia HPRT1 partial deficiency Kelley-Seegmiller syndrome hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency hypoxanthine guanine phosphoribosyltransferase deficiency, grade I hypoxanthine guanine phosphoribosyltransferase partial deficiency	Hprt1	15452	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1919	Lesch-Nyhan syndrome Aliases: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency	Hprt1	15452	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4988	alcoholic pancreatitis	Ugt1a7c Ugt1a8	154516 301595	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4947	cholangiocarcinoma Aliases: adult primary Cholangiocarcinoma adult primary cholangiocellular carcinoma cholangiosarcoma	Ins1 Ins2 Ogg1 Ugt1a7c Ugt1a8 Ugt1a9	154516 24505 24506 301595 396552 81528	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:13098	central retinal artery occlusion	CYP1B1	1545	Homo sapiens (human)	DisGeNET
DOID:0060605	obsolete anterior segment mesenchymal dysgenesis	CYP1B1	1545	Homo sapiens (human)	DisGeNET
DOID:0060291	oculodentodigital dysplasia Aliases: ODD syndrome	CYP1B1	1545	Homo sapiens (human)	DisGeNET
DOID:13094	branch retinal artery occlusion Aliases: Arterial retinal branch occlusion retinal arterial branch occlusion	CYP1B1	1545	Homo sapiens (human)	DisGeNET
DOID:0060648	anterior segment dysgenesis Aliases: anterior segment developmental anomaly corneal opacification and other ocular anomalies sclerocornea with other ocular anomalies	CYP1B1	1545	Homo sapiens (human)	DisGeNET
DOID:8483	retinal artery occlusion	CYP1B1	1545	Homo sapiens (human)	DisGeNET
DOID:0080611	anterior segment dysgenesis 6	CYP1B1	1545	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111529	familial multiple nevi flammei Aliases: CMC congenital capillary malformations familial multiple port-wine stains	CYP1B1 ICAM1 KLRB1 MAG PIK3CA PIK3CB PIK3CD PIK3CG	1545 3383 3820 4099 5290 5291 5293 5294	Homo sapiens (human)	DisGeNET DisGeNET
DOID:1068	juvenile glaucoma Aliases: Glaucoma of childhood	ARSD B3GAT3 CHST3 CYP1B1 FUT8	1545 2530 26229 414 9469	Homo sapiens (human)	DisGeNET DisGeNET
DOID:9282	ocular hypertension	ACSM3 AKR1B1 CYP1B1 HPSE2 TPI1	1545 231 60495 6296 7167	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:1570	ectropion Aliases: Ectropion of eyelid Everted margin	ALOX12B CERS3 CYP1B1 GBA1 SULT2B1	1545 204219 242 2629 6820	Homo sapiens (human)	DisGeNET
DOID:14555	Foster-Kennedy syndrome	ACO2 AGXT CYP1B1 PRPS1 PTEN	1545 189 50 5631 5728	Homo sapiens (human)	DisGeNET
DOID:1891	optic nerve disease Aliases: disorder of the second nerve optic nerve disorder optic neuropathy	ACO2 AGXT CYP1B1 PRPS1 PTEN	1545 189 50 5631 5728	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:1393	visual pathway disease	ACO2 AGXT CYP1B1 INPP5E PMM2 PRPS1 PTEN	1545 189 50 5373 5631 56623 5728	Homo sapiens (human)	DisGeNET DisGeNET

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