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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 **3001 - 3025** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:11555	Fuchs' endothelial dystrophy Aliases: FCED Fuchs' corneal dystrophy Fuchs' endothelial corneal dystrophy	C3 Clu Col8a2 Loxhd1 Slc4a11 Tcf4	12266 12759 21413 240411 269356 329941	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:668	myositis ossificans Aliases: Myisitis ossificans Ossification - muscle	dbl-1	179068	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080753	keratosis follicularis spinulosa decalvans	GNPNAT1	64841	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050865	tongue squamous cell carcinoma	Adipoq Brinp3 Erbb3 Erbb4 Fos Fosl2 Gja1 Hgf Ifng Il10 Il1rl1 Il2 Jun Jund Map2k4 Met Mmp9 Mtus1 Slc3a2 Slc7a5 Sox2 Trp53	102103 11450 13867 13869 14281 14284 14609 15234 15978 16153 16183 16476 16478 17082 17254 17295 17395 20539 20674 215378 22059 26398	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2 Aliases: developmental and epileptic encephalopathy 20 early infantile epileptic encephalopathy 20 glycosylphosphatidylinositol biosynthesis defect 4	SPT14	855928	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:5041	esophageal cancer Aliases: Ca lower third oesophagus Ca middle third oesophagus esophagus cancer malignant neoplasm of distal third of esophagus malignant neoplasm of lower third of oesophagus malignant neoplasm of middle third of oesophagus malignant neoplasm of proximal third of esophagus malignant neoplasm of upper third esophagus malignant tumor of Distal Third of esophagus malignant tumor of Proximal Third of esophagus malignant tumor of abdominal esophagus malignant tumor of the middle Third of the esophagus	Akt1 Cyp1a1 Il10 Il1r2 Pik3ca	117022 170911 24185 24296 25325	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2377	multiple sclerosis Aliases: Generalized multiple sclerosis insular sclerosis	W01F3.2 ace-1 ace-3 bre-4 clr-1 cpi-1 cpr-3 cpr-4 cpr-6 drag-1 glp-1 grd-2 lin-12 mgl-1 smf-1 smf-2 smf-3 wrt-6 zmp-3 zmp-4	175076 176282 176286 177044 177372 178748 179053 179991 180033 180349 180351 180638 180931 180939 181706 190602 190668 191707 191766 3565419	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111706	oblique facial clefting 1 Aliases: Tessier number 4 facial cleft	Specc1l	74392	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080179	haemophilus meningitis	FCGR2A	2212	Homo sapiens (human)	Alliance of Genome Resources
DOID:783	end stage renal disease Aliases: end stage renal failure end-stage kidney disease	ace	100144634	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0070210	hereditary lymphedema IA Aliases: LMPH1A	FLT4	2324	Homo sapiens (human)	Alliance of Genome Resources
DOID:10887	lepromatous leprosy Aliases: type L leprosy	C3 CD163 CFB HLA-DQA1 MBL2	3117 4153 629 718 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:3594	choriocarcinoma Aliases: Chorioepithelioma	InR tor	35717 42549	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111004	Joubert syndrome 9 Aliases: JBTS9	CC2D2A	57545	Homo sapiens (human)	Alliance of Genome Resources
DOID:4988	alcoholic pancreatitis	CCK CFTR UGT1A7	1080 54577 885	Homo sapiens (human)	Alliance of Genome Resources
DOID:3495	extrahepatic bile duct adenocarcinoma Aliases: adenocarcinoma of extrahepatic bile duct	Bap1 Slc7a5	104416 20539	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1440	Machado-Joseph disease Aliases: Azorean disease MJD SCA3 spinocerebellar ataxia 3 spinocerebellar ataxia type 3	Gfpt1 Slc18a2 Th	14583 214084 21823	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090111	PCWH syndrome Aliases: Neurologic Waardenburg-Shah syndrome PCWH Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome	mpz	780198	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:2717	Bloom syndrome Aliases: Bloom-Torre-Machacek syndrome Congenital Telangiectatic Erythema syndrome	BLM	641	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070434	hyperphosphatasia with impaired intellectual development syndrome 2 Aliases: GPIBD6 HPMRS2 glycosylphosphatidylinositol biosynthesis defect 6 hyperphosphatasia with mental retardation syndrome 2	PIGO	84720	Homo sapiens (human)	Alliance of Genome Resources
DOID:4890	juvenile myoclonic epilepsy	BRD2	6046	Homo sapiens (human)	Alliance of Genome Resources
DOID:2237	hepatitis Aliases: acute and subacute liver necrosis acute hepatitis acute/subac. necrosis of liver animal hepatitis chronic hepatitis chronic persistent hepatitis	Ogg1 Tsf2	31806 39435	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110794	hereditary spastic paraplegia 42 Aliases: SPG42 autosomal dominant spastic paraplegia 42 autosomal dominant spastic paraplegia type 42	SLC33A1	9197	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050909	extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue Aliases: MALT lymphoma MALT lymphoma of the dura mucosa-associated lymphoid tissue lymphoma	cxcr4.L cxcr4.S	100192360 380373	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:13550	angle-closure glaucoma Aliases: ACG - Angle-closure glaucoma Angle Closure Glaucoma Closed angle glaucoma Narrow cleft glaucoma primary open-angle glaucoma with narrow angles	W01F3.2 zmp-4	179991 180351	Caenorhabditis elegans	Alliance of Genome Resources

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