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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **15176 - 15200** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:9675	pulmonary emphysema	MUS81	851994	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:14323	Marfan syndrome Aliases: Marfan's syndrome	MUS81	851994	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050645	arterial tortuosity syndrome	MUS81	851994	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1059	intellectual disability	MCH4 MCH5 PGI1 SEC12 SMC3 TRS120	852016 852495 853371 854030 854483 855760	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0081098	autosomal recessive intellectual developmental disorder 13	TRS120	852016	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:2531	hematologic cancer Aliases: Hematologic malignancy Hematologic neoplasm Hematological tumors blood cancer hematopoietic and lymphoid system tumor hematopoietic cancer hematopoietic neoplasm hematopoietic tumors malignant hematopoietic neoplasm	SIZ1	852018	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050427	xeroderma pigmentosum	RAD30	852028	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110847	xeroderma pigmentosum variant type Aliases: XPV photosensitivity with defective DNA synthesis xeroderma pigmentosum with normal DNA repair rates	RAD30	852028	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070382	developmental and epileptic encephalopathy 95 Aliases: DEE95 early infantile epileptic encephalopathy 95	GPI17	852044	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080283	developmental and epileptic encephalopathy 55 Aliases: DEE55 GPIBD14 early infantile epileptic encephalopathy 55 glycosylphosphatidylinositol biosynthesis defect 14	GPI19	852047	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060350	adenine phosphoribosyltransferase deficiency Aliases: 2,8-dihydroxyadenine urolithiasis APRT deficiency	APT1 APT2	852051 854986	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1919	Lesch-Nyhan syndrome Aliases: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency	APT1 APT2	852051 854986	Saccharomyces cerevisiae S288C	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	SSN2	852053	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:14504	Niemann-Pick disease Aliases: Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis	NCR1 PPN1	852063 856101	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070112	Niemann-Pick disease type B	PPN1	852063	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070111	Niemann-Pick disease type A	PPN1	852063	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060041	autism spectrum disorder	BUD2 CHD1 NHX1 SEC12 STE20 YAK1	852066 853300 853770 855760 856382 856911	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111844	X-linked intellectual developmental disorder 108 Aliases: MRX108	NHX1	852066	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060825	Christianson syndrome Aliases: MRXSCH X-linked Angelman-like syndrome X-linked intellectual disability, South African type X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome mental retardation, X-linked syndromic, Christianson type mental retardation, microcephaly, epilepsy, and ataxia syndrome	NHX1	852066	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:3565	meningioma Aliases: meningeal neoplasm meningothelial cell tumor neoplasm of the meninges primary Meningeal tumor	PHO8 SNF5	852092 852592	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:11383	cryptorchidism Aliases: Cryptorchism Undescended testicle Undescended testis undescended testicles	HSF1 PHO8	852092 852806	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:4676	uremia Aliases: UREMIA OF renal ORIGIN	GDB1 PHO8	852092 856314	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:3594	choriocarcinoma Aliases: Chorioepithelioma	PHO8	852092	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:13809	familial combined hyperlipidemia Aliases: familial multiple lipoprotein-type hyperlipidemia hyperbetalipoproteinemia with prebetalipoproteinemia mixed hyperlipidaemia type IIb hyperlipoproteinemia	PHO8	852092	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110913	adult hypophosphatasia Aliases: mild hypophosphatasia	PHO8	852092	Saccharomyces cerevisiae S288C	Alliance of Genome Resources

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