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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 **1651 - 1675** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:0110016	Leber congenital amaurosis 2 Aliases: LCA2 amaurosis congenita of Leber II	RPE	6120	Homo sapiens (human)
DOID:0060746	basal laminar drusen Aliases: cuticular drusen drusen of bruch membrane early adult-onset grouped drusen	RPE	6120	Homo sapiens (human)
DOID:0110860	polycystic kidney disease 3 Aliases: Apkd3 Pkd3 Polycystic Kidney Disease, Adult, Type III	ROT2	852530	Saccharomyces cerevisiae S288C
DOID:9408	acute myocardial infarction	RHO1	856294	Saccharomyces cerevisiae S288C
DOID:0080377	peroxisomal biogenesis disorder	RHO1	856294	Saccharomyces cerevisiae S288C
DOID:4001	ovarian carcinoma	RHO1	856294	Saccharomyces cerevisiae S288C
DOID:2377	multiple sclerosis Aliases: Generalized multiple sclerosis insular sclerosis	RHO1	856294	Saccharomyces cerevisiae S288C
DOID:10976	membranous glomerulonephritis Aliases: membranous nephropathy	RHO1	856294	Saccharomyces cerevisiae S288C
DOID:0050665	fetal alcohol syndrome	RHO1	856294	Saccharomyces cerevisiae S288C
DOID:8577	ulcerative colitis Aliases: Left-sided ulcerative colitis	RHO1	856294	Saccharomyces cerevisiae S288C
DOID:0080566	congenital disorder of glycosylation In Aliases: congenital disorder of glycosylation 1n	RFT1	852261	Saccharomyces cerevisiae S288C
DOID:0050332	enlarged vestibular aqueduct	RENBP SMUG1	23583 5973	Homo sapiens (human)
DOID:0050833	orotic aciduria	R12E2.11 umps-1	172008 176453	Caenorhabditis elegans
DOID:653	purine-pyrimidine metabolic disorder Aliases: inborn errors of purine-pyrimidine metabolism	R12E2.11 umps-1	172008 176453	Caenorhabditis elegans
DOID:0060363	glycerol kinase deficiency	R11F4.1	173747	Caenorhabditis elegans
DOID:13810	familial hypercholesterolemia Aliases: Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia type II hyperlipidemia	R11F4.1	173747	Caenorhabditis elegans
DOID:0090025	split hand-foot malformation 3 Aliases: SHFM3 chromosome 10q24 duplication syndrome distal limb deficiencies with micrognathia	QTRT1 UGT8	7368 81890	Homo sapiens (human)
DOID:0090027	split hand-foot malformation 2 Aliases: SHFM2	QTRT1 UGT8	7368 81890	Homo sapiens (human)
DOID:0090026	split hand-foot malformation 6 Aliases: SHFM6	QTRT1 UGT8	7368 81890	Homo sapiens (human)
DOID:0090023	split hand-foot malformation 4 Aliases: SHFM4	QTRT1 UGT8	7368 81890	Homo sapiens (human)
DOID:0090020	split hand-foot malformation Aliases: lobster-claw deformity split-hand deformity	QTRT1 UGT8	7368 81890	Homo sapiens (human)
DOID:0090022	split hand-foot malformation 5 Aliases: SHFM5	QTRT1 UGT8	7368 81890	Homo sapiens (human)
DOID:2746	glycogen storage disease V Aliases: Glycogen storage disease 5 Glycogen storage disease, type V McArdle's disease glycogen storage disease type V myophosphorylase deficiency	Pygm	19309	Mus musculus (house mouse)
DOID:2754	glycogen storage disease VI Aliases: Glycogen storage disease 6 Hers' disease glycogen storage disease type VI hepatic glycogen phosphorylase deficiency hepatophosphorylase deficiency glycogenosis	Pygl	64035	Rattus norvegicus (Norway rat)
DOID:2754	glycogen storage disease VI Aliases: Glycogen storage disease 6 Hers' disease glycogen storage disease type VI hepatic glycogen phosphorylase deficiency hepatophosphorylase deficiency glycogenosis	Pygl	110095	Mus musculus (house mouse)

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