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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 **15601 - 15625** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0070113	Niemann-Pick disease type C1 Aliases: NPC1	NCR1	856101	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111967	immunodeficiency 54 Aliases: IMD54 NKCD familial isolated natural killer cell deficiency primary immunodeficiency due to MCM4 deficiency primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	MCM4	856130	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111674	intellectual developmental disorder with short stature and behavioral abnormalities Aliases: IDDSSBA	SYT1	856210	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0112038	non-syndromic X-linked intellectual disability 1 Aliases: MRX1 MRX18 MRX78 X-linked mental retardation 1 X-linked mental retardation 1/78 X-linked mental retardation 18 X-linked mental retardation 78	SYT1	856210	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111673	Saul-Wilson syndrome Aliases: SWILS microcephalic osteodysplastic dysplasia, Saul-Wilson type	COG4	856220	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:3650	lactic acidosis	GPH1	856289	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:2746	glycogen storage disease V Aliases: Glycogen storage disease 5 Glycogen storage disease, type V McArdle's disease glycogen storage disease type V myophosphorylase deficiency	GPH1	856289	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:2754	glycogen storage disease VI Aliases: Glycogen storage disease 6 Hers' disease glycogen storage disease type VI hepatic glycogen phosphorylase deficiency hepatophosphorylase deficiency glycogenosis	GPH1	856289	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:10976	membranous glomerulonephritis Aliases: membranous nephropathy	RHO1	856294	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:9408	acute myocardial infarction	RHO1	856294	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080377	peroxisomal biogenesis disorder	RHO1	856294	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050665	fetal alcohol syndrome	RHO1	856294	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080557	congenital disorder of glycosylation Ie Aliases: congenital disorder of glycosylation 1e	DPM1	856313	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:2748	glycogen storage disease III Aliases: Glycogen storage disease 3 Glycogen storage disease, type III amylo 1,6 glucosidase deficiency deficiency of debranching enzyme deficiency of dextrin	GDB1	856314	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060363	glycerol kinase deficiency	GUT1	856353	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0112051	non-syndromic X-linked intellectual disability 30 Aliases: MRX30 MRX47 X-linked mental retardation 30 X-linked mental retardation 30/47 X-linked mental retardation 47	STE20	856382	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080642	Middle East respiratory syndrome	DAP2	856423	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:8557	oropharynx cancer Aliases: Oropharyngeal carcinoma malignant Oropharyngeal tumor malignant tumor of oropharynx malignant tumour of mesopharynx oropharyngeal cancer	IRE1	856478	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:070355	multisystem proteinopathy	YARS1	8565	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110199	Charcot-Marie-Tooth disease dominant intermediate C Aliases: CMTDIC Charcot-Marie-Tooth neuropathy dominant intermediate C DI-CMTC autosomal dominant intermediate Charcot-Marie-Tooth disease type C	YARS1	8565	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060340	ciliopathy	KIC1	856502	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060752	familial temporal lobe epilepsy 5 Aliases: ETL5	ECM14	856533	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111308	familial febrile seizures 11 Aliases: FEB11 familial febrile convulsions 11	ECM14	856533	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:2228	thrombocytosis Aliases: Thrombocythaemia	ECM14	856533	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:4989	pancreatitis	ECM14	856533	Saccharomyces cerevisiae S288C	Alliance of Genome Resources

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