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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 **7051 - 7075** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:2738	pseudoxanthoma elasticum Aliases: Gronblad-Strandberg syndrome	xylt1 xylt2	560951 563446	Danio rerio (zebrafish)
DOID:557	kidney disease Aliases: impaired renal function disease nephropathy	xylt1	560951	Danio rerio (zebrafish)
DOID:0060462	Desbuquois dysplasia Aliases: Desbuquois syndrome micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification	xylt1	560951	Danio rerio (zebrafish)
DOID:0080283	developmental and epileptic encephalopathy 55 Aliases: DEE55 GPIBD14 early infantile epileptic encephalopathy 55 glycosylphosphatidylinositol biosynthesis defect 14	Pigp	56176	Mus musculus (house mouse)
DOID:4267	akinetic mutism Aliases: Coma vigilans	PRNP	5621	Homo sapiens (human)
DOID:12171	radial neuropathy	PRNP	5621	Homo sapiens (human)
DOID:0060697	hyperekplexia 2 Aliases: HKPX2	PRNP	5621	Homo sapiens (human)
DOID:0080122	Alpers-Huttenlocher syndrome Aliases: Alper's syndrome Alpers disease Alpers progressive infantile poliodystrophy Alpers syndrome Alpers' disease or gray-matter degeneration Diffuse Cerebral Sclerosis of Schilder mitochondrial DNA depletion syndrome 4a progressive sclerosing poliodystrophy	PRNP	5621	Homo sapiens (human)
DOID:0060696	hyperekplexia 1 Aliases: HKPX1	PRNP	5621	Homo sapiens (human)
DOID:648	kuru Aliases: kuru encephalopathy	PRNP	5621	Homo sapiens (human)
DOID:12170	radial nerve lesion Aliases: Lesion of radial nerve Radial nerve lesions	PRNP	5621	Homo sapiens (human)
DOID:0050980	spinocerebellar ataxia type 31	PRNP	5621	Homo sapiens (human)
DOID:0060695	hyperekplexia Aliases: Kok disease congenital stiff man syndrome familial startle disease hereditary hyperekplexia startle disease	PRNP	5621	Homo sapiens (human)
DOID:0060698	hyperekplexia 3 Aliases: HKPX3	PRNP	5621	Homo sapiens (human)
DOID:1442	obsolete Alpers syndrome	PRNP	5621	Homo sapiens (human)
DOID:14070	vestibular nystagmus Aliases: Nystagmus associated with disorder of the vestibular system	PRNP	5621	Homo sapiens (human)
DOID:5434	scrapie	PRNP	5621	Homo sapiens (human)
DOID:3530	chronic wasting disease	PRNP	5621	Homo sapiens (human)
DOID:0110370	retinitis pigmentosa 55 Aliases: RP55	Arl6	56297	Mus musculus (house mouse)
DOID:0110125	Bardet-Biedl syndrome 3 Aliases: BBS3	Arl6	56297	Mus musculus (house mouse)
DOID:0110123	Bardet-Biedl syndrome 1 Aliases: BBS1	Arl6	56297	Mus musculus (house mouse)
DOID:0060340	ciliopathy	Arl6	56297	Mus musculus (house mouse)
DOID:1935	Bardet-Biedl syndrome	Arl6	56297	Mus musculus (house mouse)
DOID:0050542	Charcot-Marie-Tooth disease type X	PRPS1	5631	Homo sapiens (human)
DOID:0111739	X-linked deafness 1 Aliases: DFN2 DFNX1 X-linked sensorineural congenital deafness 2	PRPS1	5631	Homo sapiens (human)

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