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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 **451 - 475** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0060643	primary sclerosing cholangitis	Tnf	21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060643	primary sclerosing cholangitis	Tnf	24835	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060644	chondrodysplasia-pseudohermaphroditism syndrome Aliases: Nivelon-Nivelon-Mabille syndrome chondrodysplasia-disorder of sex development syndrome	GUP1	852796	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060645	chronic recurrent multifocal osteomyelitis Aliases: CRMO chronic multifocal osteomyelitis	Il1r1	16177	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060669	cerebral cavernous malformation Aliases: cavernous angiomatous malformations cerebral capillary malformations familial cavernous angioma	Pik3ca	18706	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060669	cerebral cavernous malformation Aliases: cavernous angiomatous malformations cerebral capillary malformations familial cavernous angioma	Pik3ca	170911	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060669	cerebral cavernous malformation Aliases: cavernous angiomatous malformations cerebral capillary malformations familial cavernous angioma	PIK3CA PTEN	5290 5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060704	lymphoproliferative syndrome Aliases: Combined immunodeficiency due to ITK deficiency	KLRK1	22914	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060713	autosomal recessive congenital ichthyosis 4B Aliases: ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis	piga-1	174386	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060713	autosomal recessive congenital ichthyosis 4B Aliases: ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis	SPT14	855928	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060713	autosomal recessive congenital ichthyosis 4B Aliases: ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis	piga	100158632	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0060713	autosomal recessive congenital ichthyosis 4B Aliases: ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis	Piga	363464	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060713	autosomal recessive congenital ichthyosis 4B Aliases: ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis	piga	791759	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0060713	autosomal recessive congenital ichthyosis 4B Aliases: ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis	PIG-A	37020	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060713	autosomal recessive congenital ichthyosis 4B Aliases: ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis	Piga	18700	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060759	immunodeficiency with hyper IgM type 5 Aliases: HIGM5 hyper-IgM syndrome 5 hyper-IgM syndrome due to UNG deficiency hyper-IgM syndrome due to uracil N-glycosylase	UNG1	854987	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060759	immunodeficiency with hyper IgM type 5 Aliases: HIGM5 hyper-IgM syndrome 5 hyper-IgM syndrome due to UNG deficiency hyper-IgM syndrome due to uracil N-glycosylase	ung-1	176633	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060759	immunodeficiency with hyper IgM type 5 Aliases: HIGM5 hyper-IgM syndrome 5 hyper-IgM syndrome due to UNG deficiency hyper-IgM syndrome due to uracil N-glycosylase	Ung	22256	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060770	dextro-looped transposition of the great arteries Aliases: D-TGA DTGA1 congenitally uncorrected transposition of the great arteries congenitally uncorrected transposition of the great vessels isolated ventriculoarterial discordance ventriculoarterial discordance with atrioventricular concordance	trol	45320	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060774	congenital diarrhea	ACSL5	51703	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060786	hypomyelinating leukodystrophy Aliases: HLD	DEGS1	8560	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060806	syndromic X-linked intellectual disability Hedera type Aliases: MRXE MRXSH X-linked mental retardation with epilepsy mental retardation, X-linked, syndromic, Hedera type	ATP6AP2	41104	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060849	osteoporosis-pseudoglioma syndrome Aliases: OPPG ocular form of osteogenesis imperfecta	Lrp5	16973	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060887	ossification of the posterior longitudinal ligament of spine Aliases: OPLL	Enpp1	85496	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060887	ossification of the posterior longitudinal ligament of spine Aliases: OPLL	Enpp1	18605	Mus musculus (house mouse)	Alliance of Genome Resources

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