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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 **3976 - 4000** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:0070172	spermatogenic failure 15 Aliases: SPGF15	CYP2E1	1571	Homo sapiens (human)
DOID:0050868	hepatocellular adenoma	CYP2E1	1571	Homo sapiens (human)
DOID:0060479	Shwachman-Diamond syndrome Aliases: Shwachman syndrome Shwachman-Bodian-Diamond syndrome Shwachman-Diamond type metaphyseal dysplasia pancreatic insufficiency and bone marrow dysfunction	CYP2E1 LYZ PAFAH1B1 PTEN PTGS2	1571 4069 5048 5728 5743	Homo sapiens (human)
DOID:0080665	warfarin resistance	CYP2C9	1559	Homo sapiens (human)
DOID:11249	vitamin K deficiency bleeding Aliases: deficiency of vitamin K vitamin K deficiency vitamin K deficiency hemorrhagic disease	CYP2C9 GLA LMAN1 MCFD2 PC	1559 2717 3998 5091 90411	Homo sapiens (human)
DOID:10481	diaphragm disease	CYP2C9 GAA TPI1	1559 2548 7167	Homo sapiens (human)
DOID:4661	multiple chemical sensitivity Aliases: 20th century disease chemical AIDS environmental illness idiopathic environmental illness total allergy syndrome	CYP2C19	1557	Homo sapiens (human)
DOID:0050073	invasive aspergillosis	CYP2C19 MBL2 TLR4	1557 4153 7099	Homo sapiens (human)
DOID:2275	pharyngitis Aliases: Inflamed throat Persistent sore throat Pharyngeal disorder Pharyngitis - acute Sore throat - chronic acute pharyngitis acute sore throat chronic pharyn/nasopharyngitis chronic pharyngitis chronic pharyngitis and nasopharyngitis chronic sore throat	CYP2C19 GALNS PTGS2 UGCG	1557 2588 5743 7357	Homo sapiens (human)
DOID:3133	acute porphyria Aliases: hepatic porphyria	CYP2B6	1555	Homo sapiens (human)
DOID:10383	amyotrophic neuralgia Aliases: neuralgic amyotrophy	CYP2B6 SMUG1	1555 23583	Homo sapiens (human)
DOID:3689	brachial plexus neuritis Aliases: Brachial neuritis Parsonage-Aldren-Turner syndrome	CYP2B6 SMUG1	1555 23583	Homo sapiens (human)
DOID:0050664	Bietti crystalline corneoretinal dystrophy Aliases: Bietti's crystalline dystrophy	CYP2B6 SCD	1555 6319	Homo sapiens (human)
DOID:0090139	cortisone reductase deficiency Aliases: CORTRD	CYP2B6 H6PD HSD11B1	1555 3290 9563	Homo sapiens (human)
DOID:3052	Balkan nephropathy Aliases: Balkan endemic nephropathy DEFN Danubian endemic familial nephropathy	CYP2B6 CYP3A5 HSPG2 IL1R1 LIPA	1555 1577 3339 3554 3988	Homo sapiens (human)
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)
DOID:0080886	vitamin D-dependent rickets type 1A	CYP27B1	1594	Homo sapiens (human)
DOID:0060281	photosensitive epilepsy Aliases: photogenic epilepsy photoparoxysmal response	CYP27A1 DHCR7 EPM2A FDPS KDSR	1593 1717 2224 2531 7957	Homo sapiens (human)
DOID:0060701	familial hypocalciuric hypercalcemia 2 Aliases: FHH type 2 HHC2 familial hypocalciuric hypercalcemia type 2 hypocalciuric hypercalcemia type II	CYP24A1	1591	Homo sapiens (human)
DOID:0060699	familial hypocalciuric hypercalcemia Aliases: FBH FBHH FHH familial benign hypercalcemia familial benign hypocalciuric hypercalcemia	CYP24A1	1591	Homo sapiens (human)
DOID:0060702	familial hypocalciuric hypercalcemia 3 Aliases: FHH type 3 HHC3 familial hypocalciuric hypercalcemia type 3 hypocalciuric hypercalcemia type III	CYP24A1	1591	Homo sapiens (human)
DOID:1602	lymphadenitis Aliases: Adenitis Inflammation of lymph node acute adenitis acute lymphadenitis chronic Lymphadenitis chronic adenitis	CYP24A1 NTM PTEN	1591 50863 5728	Homo sapiens (human)
DOID:3713	ovary adenocarcinoma Aliases: Ovarian adenocarcinoma ovarian adenoacanthoma	CYP24A1 NEU1 NEU3 PTGS2 SMUG1	10825 1591 23583 4758 5743	Homo sapiens (human)
DOID:11684	melanoacanthoma	CYP24A1 HK2 INPP5A LGALS3 MMUT NTHL1 PIK3CA PIK3CB PIK3CD PIK3CG PLD2 PPT1 PTGS2 SDHD	1591 3099 3632 3958 4594 4913 5290 5291 5293 5294 5338 5538 5743 6392	Homo sapiens (human)
DOID:6945	inverted follicular keratosis Aliases: Inverted folicular keratosis	CYP24A1 HK2 INPP5A LGALS3 MMUT NTHL1 PIK3CA PIK3CB PIK3CD PIK3CG PLD2 PPT1 PTGS2 SDHD	1591 3099 3632 3958 4594 4913 5290 5291 5293 5294 5338 5538 5743 6392	Homo sapiens (human)

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