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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 **801 - 825** of **4621** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:5715	functionless pituitary adenoma Aliases: Non-Functioning neoplasm of the Pituitary Non-Secretory adenoma of the Pituitary gland	HSD11B1 PIK3CA PIK3CB PIK3CD PIK3CG QTRT1	3290 5290 5291 5293 5294 81890	Homo sapiens (human)
DOID:0111843	Paganini-Miozzo syndrome Aliases: MRXSPM	HS6ST2	90161	Homo sapiens (human)
DOID:0090075	hypogonadotropic hypogonadism 15 with or without anosmia	HS6ST1	9394	Homo sapiens (human)
DOID:0050816	urofacial syndrome Aliases: Ochoa syndrome hydronephrosis with peculiar facial expression	HPSE2 HPSE	10855 60495	Homo sapiens (human)
DOID:5230	hepatoerythropoietic porphyria	HPSE	10855	Homo sapiens (human)
DOID:5826	breast lymphoma Aliases: Lymphoma of the breast lymphoma of breast malignant lymphoma of breast	HPSE SMUG1	10855 23583	Homo sapiens (human)
DOID:0090062	familial cold autoinflammatory syndrome 1	HPSE PLCG2	10855 5336	Homo sapiens (human)
DOID:0090065	familial cold autoinflammatory syndrome 4	HPSE PLCG2	10855 5336	Homo sapiens (human)
DOID:0090061	familial cold autoinflammatory syndrome Aliases: FCAS	HPSE PLCG2	10855 5336	Homo sapiens (human)
DOID:2450	central retinal vein occlusion	HPSE ICAM1 NDUFAB1 PLA2G1B PLA2G2A PLA2G6 PNP	10855 3383 4706 4860 5319 5320 8398	Homo sapiens (human)
DOID:0050681	Borjeson-Forssman-Lehmann syndrome Aliases: BFLS BORJ Borjeson syndrome MRXSBFL intellectual deficiency-epilepsy-endocrine disorders syndrome mental retardation, epilepsy, and endocrine disorder syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type	HPRT1	3251	Homo sapiens (human)
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	3251	Homo sapiens (human)
DOID:13382	megaloblastic anemia Aliases: Grasbeck-Imerslund syndrome Imerslund-Grasbeck syndrome MGA1 Norwegian type RH-MGA1 megaloblastic anaemia recessive hereditary megaloblastic anaemia 1 recessive hereditary megaloblastic anemia 1	HPRT1 UMPS	3251 7372	Homo sapiens (human)
DOID:3405	histiocytosis Aliases: Hand Schuller Christian disease chronic Histiocytosis X	HPRT1 PPT2 PTGS1	3251 5742 9374	Homo sapiens (human)
DOID:5165	uterine corpus sarcoma Aliases: sarcoma of Corpus Uteri sarcoma of uterus	HPRT1 LDHA ME1 PTEN SMUG1	23583 3251 3939 4199 5728	Homo sapiens (human)
DOID:885	fascioliasis Aliases: Fasciola hepatica infection Infection by Fasciola Liver flukes Sheep liver fluke infection	HPGDS PSAP SLC17A5	26503 27306 5660	Homo sapiens (human)
DOID:4944	gastroesophageal junction adenocarcinoma Aliases: adenocarcinoma of Cardioesophageal junction	HPGDS NEU1 PTEN PTGS2 SMUG1	23583 27306 4758 5728 5743	Homo sapiens (human)
DOID:4906	small intestine adenocarcinoma Aliases: small intestinal adenocarcinoma	HPGDS MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMUG1 UGT1A1	23583 27306 4360 5290 5291 5293 5294 54658 5728	Homo sapiens (human)
DOID:6082	childhood testicular germ cell tumor Aliases: paediatric testicular germ cell neoplasm paediatric testicular germ cell tumour pediatric testicular germ cell neoplasm pediatric testicular germ cell tumor	HPGDS MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN	27306 4360 5290 5291 5293 5294 5716 5728	Homo sapiens (human)
DOID:0111672	primary hyperoxaluria type 3 Aliases: HP3 PH III primary hyperoxaluria type III	HOGA1	112817	Homo sapiens (human)
DOID:180	ossifying fibroma Aliases: Fibro-osteoma	HMMR	3161	Homo sapiens (human)
DOID:1036	chronic leukemia	HMMR	3161	Homo sapiens (human)
DOID:0081168	HMG-CoA synthase 2 deficiency Aliases: 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency	HMGCS2	3158	Homo sapiens (human)
DOID:0060869	late-onset retinal degeneration Aliases: LORD autosomal dominant late-onset retinal degeneration	HKDC1	80201	Homo sapiens (human)
DOID:4682	extrahepatic bile duct carcinoma Aliases: carcinoma of extrahepatic bile duct extrahepatic bile duct cancer	HK2 PIK3CA PTEN PTGS2	3099 5290 5728 5743	Homo sapiens (human)

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