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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 **3301 - 3325** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:9637	stomatitis	CAT CYP2B6 FCGR3B MICA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PPT1 PSAP PTGS2 UGT1A1 UNG	100507436 142 1555 2215 5290 5291 5293 5294 54658 5538 5660 5743 7374 847	Homo sapiens (human)
DOID:14773	cartilage-hair hypoplasia Aliases: CHH McKusick type metaphyseal chondrodysplasia Metaphyseal chondrodysplasia, McKusick type	CAT CYP3A4 EBP HS6ST1 KLB	10682 152831 1576 847 9394	Homo sapiens (human)
DOID:3602	toxic encephalopathy Aliases: neurotoxicity neurotoxicity syndrome	CAT CYP3A5 PTGES3 ST8SIA1	10728 1577 6489 847	Homo sapiens (human)
DOID:599	specific phobia Aliases: simple phobia	CAT DDOST	1650 847	Homo sapiens (human)
DOID:600	animal phobia Aliases: Fear of animals Zoophobia	CAT DDOST	1650 847	Homo sapiens (human)
DOID:2253	cervix disease	CAT DGCR2 HPGDS MMUT PIK3CA RECK ST6GALNAC5	27306 4594 5290 81849 8434 847 9993	Homo sapiens (human)
DOID:0050954	spinocerebellar ataxia type 1	CAT ELOVL5 GLO1 HSD17B6	2739 60481 847 8630	Homo sapiens (human)
DOID:0050955	spinocerebellar ataxia type 2	CAT ELOVL5 HPGDS PLB1 SDHC	151056 27306 60481 6391 847	Homo sapiens (human)
DOID:1214	tympanosclerosis	CAT ENPP1 TLR4	5167 7099 847	Homo sapiens (human)
DOID:0060285	parietal foramina Aliases: Caitlin marks enlarged parietal foramina hereditary cranium bifidum	CAT EXT2 QTRT1 UGT8	2132 7368 81890 847	Homo sapiens (human)
DOID:9673	ulcerative stomatitis	CAT FCGR3B MICA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PPT1 PSAP UGT1A1 UNG	100507436 142 2215 5290 5291 5293 5294 54658 5538 5660 7374 847	Homo sapiens (human)
DOID:11875	denture stomatitis Aliases: Denture sore mouth	CAT FCGR3B MICA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PPT1 PSAP UGT1A1 UNG	100507436 142 2215 5290 5291 5293 5294 54658 5538 5660 7374 847	Homo sapiens (human)
DOID:0080483	peroxisome biogenesis disorder 8A Aliases: peroxisome biogenesis disorder 8A (Zellweger)	CAT G6PD	2539 847	Homo sapiens (human)
DOID:2006	preretinal fibrosis Aliases: Macular puckering of retina Macular retinal puckering cellophane maculopathy	CAT GFRA1 GFRA2 LGALS1 PIK3CA PIK3CB PIK3CD PIK3CG RPE SIGLEC7	2674 2675 27036 3956 5290 5291 5293 5294 6120 847	Homo sapiens (human)
DOID:10327	anthracosis Aliases: Coal Miner's Pneumoconiosis Coal workers' lung Coal workers' pneumoconiosis Melanoedema black lung	CAT GGT1 IL18R1 MBL2 OGG1 PTGS2 SELE UGT8	2678 4153 4968 5743 6401 7368 847 8809	Homo sapiens (human)
DOID:9280	carbamoyl phosphate synthetase I deficiency disease Aliases: CPS I deficiency	CAT GLUL PTEN UMPS	2752 5728 7372 847	Homo sapiens (human)
DOID:10582	Refsum disease Aliases: HMSN type IV HSMN IV Heredopathia atactica polyneuritiformis Refsum's disease adult Refsum disease classic Refsum disease phytanic acid oxidase deficiency	CAT GPD1 HSD17B4 SCP2	2819 3295 6342 847	Homo sapiens (human)
DOID:0050444	infantile Refsum disease Aliases: infantile phytanic acid storage disease	CAT GPD1 HSD17B4 SCP2	2819 3295 6342 847	Homo sapiens (human)
DOID:161	keratosis	CAT HPGDS OGG1 PIK3CA SDHD SPTLC1	10558 27306 4968 5290 6392 847	Homo sapiens (human)
DOID:0070145	hereditary sensory and autonomic neuropathy type 5 Aliases: HSAN5 hereditary sensory and autonomic neuropathy type V	CAT HPGDS SPTLC1	10558 27306 847	Homo sapiens (human)
DOID:12287	Crimean-Congo hemorrhagic fever Aliases: CHF Congo virus Congo-Crimean Hemorrhagic Fever Crimean hemorrhagic fever	CAT ICAM1 SLC17A5	26503 3383 847	Homo sapiens (human)
DOID:0081120	Graves ophthalmopathy Aliases: Graves orbitopathy Thyroid associated ophthalmopathy thyroid eye disease	CAT ICAM1 TNF	3383 7124 847	Homo sapiens (human)
DOID:2960	photosensitive trichothiodystrophy Aliases: IBIDS syndrome TTD-P Tay syndrome sulfur-deficient brittle hair syndrome trichothiodystrophy with congenital ichthyosis	CAT ICAM1	3383 847	Homo sapiens (human)
DOID:1679	cystitis	CAT IMPA1 MBL2 NAGLU OGA PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTGS2 TNF	10724 3612 4153 4669 5290 5291 5293 5294 5563 5743 7124 847	Homo sapiens (human)
DOID:13507	trigonitis	CAT IMPA1 MBL2 NAGLU OGA PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTGS2	10724 3612 4153 4669 5290 5291 5293 5294 5563 5743 847	Homo sapiens (human)

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