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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 **3776 - 3800** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:2377	multiple sclerosis Aliases: Generalized multiple sclerosis insular sclerosis	bre-4	190668	Caenorhabditis elegans
DOID:0080693	Noonan syndrome-like disorder with loose anagen hair 2	Ppp1cb	19046	Mus musculus (house mouse)
DOID:0080562	congenital disorder of glycosylation Ij Aliases: Congenital disorder of glycosylation 1j	algn-7	190436	Caenorhabditis elegans
DOID:0110676	congenital myasthenic syndrome 13 Aliases: CMS13 CMSTA2 congenital myasthenic syndrome 13 with tubular aggregates congenital myasthenic syndrome with tubular aggregates 2	algn-7	190436	Caenorhabditis elegans
DOID:10871	age related macular degeneration Aliases: Age Related Maculopathies Age Related Maculopathy Senile macular degeneration Senile macular retinal degeneration age-related macular degeneration	Ppargc1a	19017	Mus musculus (house mouse)
DOID:1907	malignant fibrous histiocytoma Aliases: Fibroxanthosarcoma MFH	Ppargc1a	19017	Mus musculus (house mouse)
DOID:10376	amblyopia Aliases: lazy eye	Ppargc1a	19017	Mus musculus (house mouse)
DOID:263	kidney cancer Aliases: malignant neoplasm of kidney except pelvis malignant tumour of kidney renal cancer	Ppargc1a	19017	Mus musculus (house mouse)
DOID:1184	nephrotic syndrome	Coq2 Ppargc1a	19017 71883	Mus musculus (house mouse)
DOID:9427	hypertensive encephalopathy	Ppara	19013	Mus musculus (house mouse)
DOID:2738	pseudoxanthoma elasticum Aliases: Gronblad-Strandberg syndrome	sqv-6	190099	Caenorhabditis elegans
DOID:0060462	Desbuquois dysplasia Aliases: Desbuquois syndrome micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification	sqv-6	190099	Caenorhabditis elegans
DOID:5813	purine nucleoside phosphorylase deficiency Aliases: PNP deficiency Purine-Nucleoside Phosphorylase deficiency deficiency of inosine phosphorylase	Pnp	18950	Mus musculus (house mouse)
DOID:653	purine-pyrimidine metabolic disorder Aliases: inborn errors of purine-pyrimidine metabolism	Pnp Umps	18950 22247	Mus musculus (house mouse)
DOID:0090045	childhood onset GLUT1 deficiency syndrome 2	ECHS1 SLC2A1	1892 6513	Homo sapiens (human)
DOID:14500	fucosidosis Aliases: A-fucosidase deficiency alpha fucosidase deficiency	W03G11.3	189173	Caenorhabditis elegans
DOID:0080127	mitochondrial DNA depletion syndrome 8a Aliases: RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy	TYMP	1890	Homo sapiens (human)
DOID:0070331	mitochondrial DNA depletion syndrome 8b Aliases: mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related	TYMP	1890	Homo sapiens (human)
DOID:0080119	mitochondrial DNA depletion syndrome 1 Aliases: mitochondrial DNA depletion syndrome 1 (MNGIE type) mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related	TYMP	1890	Homo sapiens (human)
DOID:0080123	mitochondrial DNA depletion syndrome 4b Aliases: mitochondrial neurogastrointestinal encephalopathy syndrome	TYMP	1890	Homo sapiens (human)
DOID:0080124	mitochondrial DNA depletion syndrome 5 Aliases: succinate-CoA ligase deficiency	SUCLA2 SUCLG1 TYMP	1890 8802 8803	Homo sapiens (human)
DOID:890	mitochondrial encephalomyopathy	SDHB SUCLA2 SUCLG1 TYMP	1890 6390 8802 8803	Homo sapiens (human)
DOID:0060074	ductal carcinoma in situ	AKR1C3 PTGES PTGS2 TFF1 TP53 TYMP	1890 5743 7031 7157 8644 9536	Homo sapiens (human)
DOID:8454	riboflavin deficiency Aliases: ariboflavinosis vitamin B2 deficiency	AGXT	189	Homo sapiens (human)
DOID:0111670	primary hyperoxaluria type 1 Aliases: HP1 alanine-glyoxylate aminotransferase deficiency glycolic aciduria hepatic AGT deficiency oxalosis I peroxisomal alanine-glyoxylate aminotransferase deficiency serine pyruvate aminotransferase deficiency	AGXT	189	Homo sapiens (human)

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