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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 **3026 - 3050** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
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)
DOID:5468	biliary papillomatosis Aliases: bile duct papillomatosis	HK1	3098	Homo sapiens (human)
DOID:5246	obsolete hilar cholangiocellular carcinoma	HK1 PIK3CA PIK3CB PIK3CD PIK3CG PKM SDC2 SMUG1	23583 3098 5290 5291 5293 5294 5315 6383	Homo sapiens (human)
DOID:0111034	hemochromatosis type 2 Aliases: HFE2 JHH juvenile hemochromatosis	HJV RGMA RGMB	148738 285704 56963	Homo sapiens (human)
DOID:0111027	hemochromatosis type 2A Aliases: HFE2A	HJV RGMA RGMB	148738 285704 56963	Homo sapiens (human)
DOID:0110389	retinitis pigmentosa 73 Aliases: RP73	HGSNAT	138050	Homo sapiens (human)
DOID:0110649	long QT syndrome 8 Aliases: LQT8	HEXD OGA PRKAA2	10724 284004 5563	Homo sapiens (human)
DOID:0060173	Timothy syndrome	HEXD OGA PRKAA2 SCD	10724 284004 5563 6319	Homo sapiens (human)
DOID:0080490	mucolipidosis type IV	HEXA	3073	Homo sapiens (human)
DOID:0060466	gingival fibromatosis Aliases: hereditary gingival fibromatosis hereditary gingival hyperplasia	HAS3 HPSE ICAM1 PIK3CA PIK3CB PIK3CD PIK3CG SLC2A4	10855 3038 3383 5290 5291 5293 5294 6517	Homo sapiens (human)
DOID:13789	staphyloma posticum	HADHA	3030	Homo sapiens (human)
DOID:0070215	familial hyperinsulinemic hypoglycemia 4 Aliases: HHF4 hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency hyperinsulinism due to SCHAD deficiency hyperinsulinism due to glutamodehydrogenase deficiency hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HADH	3033	Homo sapiens (human)
DOID:0060486	Perry syndrome Aliases: parkinsonism with alveolar hypoventilation and mental depression	HACD1	9200	Homo sapiens (human)
DOID:0081337	congenital myopathy	HACD1	9200	Homo sapiens (human)
DOID:401	multidrug-resistant tuberculosis	HACD1 NCAM1 PTGS2 RENBP SMUG1	23583 4684 5743 5973 9200	Homo sapiens (human)
DOID:0040084	Streptococcus pneumonia	HACD1 MASP2 MBL2 PKD1 PTGS1 PTGS2 STS	10747 412 4153 5310 5742 5743 9200	Homo sapiens (human)
DOID:0090139	cortisone reductase deficiency Aliases: CORTRD	H6pd	100198	Mus musculus (house mouse)
DOID:0090141	cortisone reductase deficiency 1 Aliases: CORTRD1	H6pd	100198	Mus musculus (house mouse)

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