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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 **15826 - 15850** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:1405	primary angle-closure glaucoma Aliases: primary Angle Closure Glaucoma	myrf.L	447583	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0050794	multiple synostoses syndrome	FGF9 GDF5	2254 8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070436	hyperphosphatasia with impaired intellectual development syndrome 4 Aliases: GPIBD62 HPMRS6 glycosylphosphatidylinositol biosynthesis defect 62 hyperphosphatasia with mental retardation syndrome 6	PGAP3	35570	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1470	major depressive disorder Aliases: clinical depression major depression recurrent major depression single major depressive episode unipolar depression	acr-3 cho-1 gar-3 nlr-1 unc-38 unc-63	172105 172150 178167 178274 179962 180937	Caenorhabditis elegans	Alliance of Genome Resources
DOID:801	hemarthrosis Aliases: Haemarthrosis of shoulder joint Haemarthrosis of the ankle and foot Haemarthrosis of the pelvic region and thigh Hemarthrosis involving ankle and foot Hemarthrosis involving forearm Hemarthrosis involving hand Hemarthrosis involving lower leg Hemarthrosis involving pelvic region and thigh Hemarthrosis involving shoulder region Hemarthrosis involving upper arm Hemarthrosis of ankle and/or foot Hemarthrosis of forearm Hemarthrosis of hand Hemarthrosis of lower leg Hemarthrosis of shoulder Hemarthrosis of shoulder region Hemarthrosis of the ankle and foot Hemarthrosis of the ankle and/or foot Hemarthrosis of the forearm Hemarthrosis of the hand Hemarthrosis of the lower leg Hemarthrosis of the pelvic region and thigh Hemarthrosis of the shoulder region Hemarthrosis of the upper arm Hemarthrosis of upper arm	F8	14069	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4166	syphilis Aliases: syphilitic chancre	Ccr5 Kir3dl1 Nefl	117029 353253 83613	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4079	heart valve disease Aliases: Valvular heart disease	ACE COL1A2 GALNT1 HTR2B LRP5 MMP2 MMP9 TNF	1278 1636 2589 3357 4041 4313 4318 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:1062	Fanconi syndrome Aliases: Congenital Fanconi syndrome De Toni-Fanconi syndrome Fanconi-de Toni syndrome Fanconi-de-Toni syndrome Infantile nephropathic cystinosis Lignac-Fanconi syndrome adult Fanconi Anemia adult Fanconi syndrome deToni Fanconi syndrome	ctns-1	174308	Caenorhabditis elegans	Alliance of Genome Resources
DOID:6039	uveal melanoma Aliases: melanoma of Uvea	srp-3 ver-1 ver-4	175182 178672 186632	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080563	congenital disorder of glycosylation Ik Aliases: congenital disorder of glycosylation 1k	alg1	594994	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:447	renal tubular transport disease Aliases: inborn renal tubular transport disorder	CLCN5	1184	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050998	nonprogressive cerebellar ataxia with mental retardation	CAMTA1	23261	Homo sapiens (human)	Alliance of Genome Resources
DOID:1837	diabetic ketoacidosis Aliases: DIABETES MELLITUS, KETOSIS-PRONE ketosis-prone diabetes mellitus	Aqp2	25386	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3070	high grade glioma Aliases: Neuroglial tumor glial cell tumor glioma, malignant malignant Neuroglial tumor malignant glioma	C49C8.5 W01F3.2 Y43C5A.2 cpr-3 cpr-4 cpr-6 daf-2 dat-1 ddr-2 let-23 pgp-1 pgp-3 pkc-2 plr-1 rig-6 srp-3 ver-1 ver-4 zmp-2 zmp-4	173828 174462 175182 175383 175410 176304 176575 177668 177911 178215 178672 179053 179991 180033 180351 180622 180931 181166 181326 186632	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0112222	developmental and epileptic encephalopathy 88 Aliases: DEE88 early infantile epileptic encephalopathy 88	MDH1	4190	Homo sapiens (human)	Alliance of Genome Resources
DOID:178	vascular disease Aliases: vascular tissue disease	Cps1 Il1rn Timp1	116510 497840 60582	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111730	familial episodic pain syndrome 2 Aliases: FEPS2	Scn10a	20264	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:750	peptic ulcer disease Aliases: acute peptic ulcer with hemorrhage acute peptic ulcer with hemorrhage and perforation acute peptic ulcer without hemorrhage and without perforation	CNR1 CYP2C19 HLA-DRB1	1268 1557 3123	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111864	autosomal recessive congenital bilateral absence of vas deferens	Cftr	12638	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3454	brain infarction	calcrl kcnk6	100145504 549647	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0060957	myoclonic dystonia 34	Kcnn2	140492	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060241	3-M syndrome Aliases: Le Merrer syndrome Miller-McKusick-Malvaux syndrome Yakut short stature syndrome dolichospondylic dysplasia gloomy face syndrome three M syndrome	CUL7 OBSL1	23363 9820	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110765	hereditary spastic paraplegia 12 Aliases: SPG12 autosomal dominant spastic paraplegia 12 autosomal dominant spastic paraplegia type 12	RTN1 RTN2 RTN3 RTN4	10313 57142 6252 6253	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110065	amelogenesis imperfecta type 1F Aliases: AI1F amelogenesis imperfecta hypoplastic type IF amelogenesis imperfecta type IF	AMBN	258	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111976	immunodeficiency 9 Aliases: CID due to ORAI1 deficiency IMD9 combined immunodeficiency due to ORAI1 deficiency immune dysfunction with T-cell inactivation due to calcium entry defect 1	Orai1	109305	Mus musculus (house mouse)	Alliance of Genome Resources

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