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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 **501 - 525** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0080464	developmental and epileptic encephalopathy 53 Aliases: DEE53 early infantile epileptic encephalopathy 53	INP53	854276	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110661	congenital myasthenic syndrome 20 Aliases: CMS20 congenital myasthenic syndrome 20 presynaptic	Slc5a7	85426	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111199	autosomal dominant distal hereditary motor neuronopathy 7 Aliases: DHMN7A DHMNVPy HMN VIIA HMN7A Harper-Young myopath dHMN7 distal hereditary motor neuronopathy type 7 distal hereditary motor neuropathy type VIIA distal spinal muscular atrophy with vocal cord paralysis distal spinal muscular atrophy with vocal cord paralysis type 7A	Slc5a7	85426	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:104	bacterial infectious disease	OST3	854252	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080319	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia Aliases: XMEN	OST3	854252	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0081183	autosomal recessive intellectual developmental disorder 7	OST3	854252	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111839	congenital disorder of glycosylation Icc Aliases: congenital disorder of glycosylation type Icc	OST3	854252	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080560	congenital disorder of glycosylation Ih Aliases: congenital disorder of glycosylation 1h	ALG8	854233	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111446	progressive myoclonus epilepsy 3 Aliases: CLN14 disease EPM3 PME type 3 Progressive myoclonic epilepsy due to KCTD7 deficiency Progressive myoclonus epilepsy type 3 neuronal ceroid lipofuscinosis 14	WHI2	854208	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080555	congenital disorder of glycosylation Ic Aliases: congenital disorder of glycosylation 1c	ALG6	854163	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060395	chromosome 15q24 deletion syndrome Aliases: 15q24 microdeletion syndrome	SIN3	854158	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080195	Marinesco-Sjogren syndrome Aliases: Garland-Moorhouse syndrome Marinesco-Garland syndrome Oligophrenic cerebellolenticular degeneration hereditary oligophrenic cerebello-lental degeneration	SIL1	854126	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:9277	primary cerebellar degeneration	SIL1	854126	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0090019	sitosterolemia Aliases: phytosterolemia	YOL075C	854080	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050631	Allan-Herndon-Dudley syndrome Aliases: AHDS ALLAN-HERNDON SYNDROME	MCH4 MCH5	854030 854483	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070353	cataract 47 Aliases: CTRCT47	ESBP6 MCH4 MCH5	854030 854483 855598	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:2580	rhizomelic chondrodysplasia punctata Aliases: Chondrodysplasia Punctata, Rhizomelic Form	AGPS	8540	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110853	rhizomelic chondrodysplasia punctata type 3 Aliases: Agps Deficiency Alkyldihydroxyacetonephosphate Synthase Deficiency Alkylglycerone-Phosphate Synthase Deficiency Rcdp3	AGPS	8540	Homo sapiens (human)	Alliance of Genome Resources
DOID:13258	typhoid fever Aliases: Typhoid	NFT1	853978	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:13166	allergic bronchopulmonary aspergillosis Aliases: pulmonary aspergillus disease	NFT1	853978	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:13316	exocrine pancreatic insufficiency Aliases: EPI	NFT1	853978	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:5733	salpingitis	NFT1	853978	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:693	dental enamel hypoplasia Aliases: enamel hypoplasia	NFT1	853978	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:10808	gastric ulcer Aliases: acute gastric ulcer with haemorrhage and perforation acute gastric ulcer with hemorrhage AND with perforation but without obstruction acute gastric ulcer with hemorrhage and obstruction acute gastric ulcer with hemorrhage and perforation acute gastric ulcer with hemorrhage and perforation, with obstruction acute gastric ulcer with hemorrhage and perforation, without mention of obstruction acute gastric ulcer with hemorrhage, with obstruction acute gastric ulcer with hemorrhage, with perforation AND with obstruction acute gastric ulcer with perforation acute gastric ulcer with perforation AND obstruction acute gastric ulcer with perforation, with obstruction acute gastric ulcer without hemorrhage and without perforation acute gastric ulcer without hemorrhage, without perforation AND without obstruction acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction bleeding acute gastric ulcer chronic gastric ulcer without hemorrhage AND without perforation chronic gastric ulcer without hemorrhage AND without perforation but with obstruction chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction	NFT1	853978	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:9563	bronchiectasis Aliases: Polynesian bronchiectasis	NFT1	853978	Saccharomyces cerevisiae S288C	Alliance of Genome Resources

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