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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 **5801 - 5825** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:2367	neuroaxonal dystrophy	gana-1	179660	Caenorhabditis elegans	Alliance of Genome Resources
DOID:479	angiokeratoma Aliases: Angiokeratoma of skin Cutaneous Angiokeratoma skin angiokeratoma	gana-1	179660	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0112319	Kanzaki disease Aliases: NAGA deficiency type 2 adult-onset alpha-N-acetylgalactosaminidase deficiency alpha-N-acetylgalactosaminidase deficiency type 2	gana-1	179660	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0112318	Schindler disease type 1 Aliases: NAGA deficiency type 1 alpha-N-acetylgalactosaminidase deficiency type 1	gana-1	179660	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050644	arterial calcification of infancy Aliases: generalized arterial calcification of infancy idiopathic infantile arterial calcification infantile arteriosclerosis	C27A7.3 enpp-1 mrp-1	179663 179665 180409	Caenorhabditis elegans	Alliance of Genome Resources
DOID:1214	tympanosclerosis	C27A7.3 enpp-1	179663 179665	Caenorhabditis elegans	Alliance of Genome Resources
DOID:1123	spondyloarthropathy Aliases: spondarthropathy spondylarthrosis	C27A7.3 enpp-1	179663 179665	Caenorhabditis elegans	Alliance of Genome Resources
DOID:2738	pseudoxanthoma elasticum Aliases: Gronblad-Strandberg syndrome	C27A7.3 W01F3.2 gpx-3 gpx-5 mrp-1 sqv-6 zmp-4	179665 179991 180351 180409 181178 182513 190099	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050933	ovarian serous carcinoma	Arhgef10l Map2k4 Ncam1	17967 26398 72754	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110170	Charcot-Marie-Tooth disease axonal type 2Q Aliases: CMT2Q Charcot-Marie-Tooth neuropathy type 2Q autosomal dominant Charcot-Marie-Tooth disease type 2Q autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q	ogdh-2	179674	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria Aliases: AMOXAD alpha-aminoadipic aciduria	ogdh-2	179674	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111258	pentosuria Aliases: L-xylulose reductase deficiency L-xylulosuria PNTSU essential pentosuria xylitol dehydrogenase deficiency	dhs-21	179741	Caenorhabditis elegans	Alliance of Genome Resources
DOID:11633	thyroid hormone resistance syndrome Aliases: Generalized thyroid hormone resistance Refetoff syndrome Thyroid hormone responsiveness defect thyroid hormone resistance	Ncoa1	17977	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110676	congenital myasthenic syndrome 13 Aliases: CMS13 CMSTA2 congenital myasthenic syndrome 13 with tubular aggregates congenital myasthenic syndrome with tubular aggregates 2	DPAGT1	1798	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080562	congenital disorder of glycosylation Ij Aliases: Congenital disorder of glycosylation 1j	DPAGT1	1798	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080470	developmental and epileptic encephalopathy 36 Aliases: congenital disorder of glycosylation, type Is early infantile epileptic encephalopathy 36	algn-13	179890	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0112076	nuclear type mitochondrial complex I deficiency 13 Aliases: MC1DN13	Ndufa2	17991	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3571	liver cancer Aliases: Ca liver - primary Resectable malignant neoplasm of Liver hepatic cancer hepatic neoplasm malignant hepato-biliary neoplasm malignant neoplasm of liver malignant neoplasm of liver, not specified as primary or secondary malignant neoplasm of liver, primary malignant tumor of liver neoplasm of liver non-resectable primary hepatic malignant neoplasm primary liver cancer primary malignant neoplasm of liver resectable malignant neoplasm of the liver	F47E1.2 adm-2 cest-1.2	179914 181145 181489	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060536	mitochondrial complex I deficiency Aliases: isolated NADH-CoQ reductase deficiency isolated NADH-coenzyme Q reductase deficiency isolated NADH-ubiquinone reductase deficiency isolated mitochondrial respiratory chain complex I deficiency	Aifm1 Ndufs1 Ndufs4 Slc25a10	17993 227197 26926 27376	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112074	nuclear type mitochondrial complex I deficiency 1 Aliases: MC1DN1	Ndufs4	17993	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110928	nemaline myopathy 2 Aliases: NEM2 congenital myopathy 2 nemaline myopathy 2, autosomal recessive	Neb	17996	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070336	arthrogryposis multiplex congenita-6	Neb	17996	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050685	small cell carcinoma Aliases: Small cell carcinoma - intermediate cell Small cell carcinoma, intermediate cell intermediate cell small cell carcinoma	cht-1 gar-3	179962 180628	Caenorhabditis elegans	Alliance of Genome Resources
DOID:365	bladder disease Aliases: Urinary Bladder Disease	gar-3	179962	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060889	prune belly syndrome Aliases: Eagle-Barret syndrome Obrisnksy syndrome abdominal muscle deficiency syndrome	gar-3	179962	Caenorhabditis elegans	Alliance of Genome Resources

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