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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 **7751 - 7775** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:11336	rhinoscleroma	HLA-DQA1 HLA-DQB1	3117 3119	Homo sapiens (human)	Alliance of Genome Resources
DOID:3490	Noonan syndrome Aliases: Turner's phenotype, karyotype normal	srp-3	178672	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110465	autosomal recessive nonsyndromic deafness 104 Aliases: DFNB104 autosomal recessive deafness 104	RIPOR2	9750	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080429	developmental and epileptic encephalopathy 24 Aliases: DEE24 early infantile epileptic encephalopathy 24	HCN1	348980	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070143	autosomal recessive cutis laxa type III Aliases: De Barsy syndrome cutis laxa-corneal clouding-intellectual disability syndrome	Aldh18a1	56454	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080484	peroxisome biogenesis disorder 10A Aliases: peroxisome biogenesis disorder 10A (Zellweger)	PEX3	8504	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070152	hereditary sensory and autonomic neuropathy type 1A Aliases: HSAN1A hereditary sensory and autonomic neuropathy type IA	SPTLC1	10558	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060334	transient neonatal diabetes mellitus	ABCC8	6833	Homo sapiens (human)	Alliance of Genome Resources
DOID:10211	cholelithiasis	ugt-61	185500	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0112192	tetraamelia syndrome 1 Aliases: TETAMS1 tetra-amelia syndrome 1	WNT3	7473	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070267	congenital disorder of glycosylation type IIo Aliases: CCDC115-CDG CDG IIo CDG syndrome type IIo CDG2O CDGIIdo Carbohydrate deficient glycoprotein syndrome type IIo Congenital disorder of glycosylation type 2o	CCDC115	84317	Homo sapiens (human)	Alliance of Genome Resources
DOID:3633	beta-mannosidosis Aliases: Beta-D-mannosidosis beta-mannosidase deficiency lysosomal beta-mannosidase deficiency	Manba	310864	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070073	autosomal dominant intellectual developmental disorder 43 Aliases: MRD43 autosomal dominant mental retardation 43 autosomal dominant non-syndromic intellectual disability 43	Hivep2	15273	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080143	congenital fibrosis of the extraocular muscles	KIF21A TUBB3	10381 55605	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060672	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions	Grn	29143	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:5199	ureteral obstruction	Abl1 Ace Adamts1 Akt1 Avpr2 Casp9 Ccl11 Cfl1 Col1a1 Col1a2 Drd1 Fn1 Gjb6 Hspa5 Icam1 Ifng Il1rn Irf5 Lum Mtor Pak2 Pdgfb Skil Tnf Tnfrsf1a Tnfrsf1b	11350 11421 11504 11651 12000 12371 12631 12842 12843 13488 14268 14623 14828 15894 15978 16181 17022 18591 20292 20482 21926 21937 21938 224105 27056 56717	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111730	familial episodic pain syndrome 2 Aliases: FEPS2	Scn10a	29571	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111035	CADASIL 1 Aliases: autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1	NOTCH3	4854	Homo sapiens (human)	Alliance of Genome Resources
DOID:1350	paranasal sinus benign neoplasm Aliases: neoplasm of accessory sinus tumor of Accessory sinus	Tp53	24842	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2452	thrombophilia Aliases: hypercoagulability state	CD46 F2 FGA HLA-DQA1 PLG PROC SERPINA10 THBD	2147 2243 3117 4179 51156 5340 5624 7056	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080052	acromesomelic dysplasia, Grebe type Aliases: acromesomelic dysplasia-2A grebe chondrodysplasia	Gdf5	14563	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11721	glycogen storage disease VII Aliases: Glycogen storage disease 7 Glycogen storage disease, type VII Muscle phosphofructokinase deficiency glycogen storage disease type VII phosphofructokinase myopathy	PFK1 PFK2	853155 855245	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:7004	ACTH-secreting pituitary adenoma Aliases: ACTH-Producing Pituitary Adenoma Corticotroph adenoma Corticotropinoma	ntr-1 ntr-2	184471 188227	Caenorhabditis elegans	Alliance of Genome Resources
DOID:9271	ornithine carbamoyltransferase deficiency Aliases: deficiency of citrulline phosphorylase ornithine transcarbamylase deficiency	Igfbp3	16009	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060697	hyperekplexia 2 Aliases: HKPX2	GLRB	2743	Homo sapiens (human)	Alliance of Genome Resources

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