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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 **4801 - 4825** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:2018	hyperinsulinism Aliases: hyperinsulinemia	Gck Ins1 Ins2 Kcnj11 Lep Lepr Pfkfb1 Rbp4	24385 24505 24506 24536 24638 25608 25703 83535	Rattus norvegicus (Norway rat)
DOID:0060639	permanent neonatal diabetes mellitus Aliases: PDMI PNDM permanent diabetes mellitus of infancy	Gck Ins1 Ins2 Kcnj11	24385 24505 24506 83535	Rattus norvegicus (Norway rat)
DOID:0050524	maturity-onset diabetes of the young Aliases: MODY Mason-type diabetes	Gck Ins2 Pdx1	24385 24506 29535	Rattus norvegicus (Norway rat)
DOID:13317	hyperinsulinemic hypoglycemia Aliases: Islet cell hyperplasia nesidioblastosis persistent hyperinsulinemia hypoglycemia of infancy	Gck	24385	Rattus norvegicus (Norway rat)
DOID:0111100	maturity-onset diabetes of the young type 2 Aliases: MODY glucokinase-related MODY type 2 MODY2	Gck	24385	Rattus norvegicus (Norway rat)
DOID:0070216	familial hyperinsulinemic hypoglycemia 3 Aliases: HHF3 hyperinsulinemic hypoglycemia due to glucokinase deficiency hyperinsulinism due to glucokinase deficiency	Gck	24385	Rattus norvegicus (Norway rat)
DOID:0111681	glutamate-cysteine ligase deficiency Aliases: gamma-glutamylcysteine synthetase deficiency hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency	Gclc	14629	Mus musculus (house mouse)
DOID:5082	liver cirrhosis Aliases: Cirrhosis cirrhosis of liver	Gclc Igf2 Myc Parp1 Pgf Phkg2 Rbp4 Tlr4 Tnf	140671 24483 24577 24835 25283 25591 25703 29260 94203	Rattus norvegicus (Norway rat)
DOID:0111681	glutamate-cysteine ligase deficiency Aliases: gamma-glutamylcysteine synthetase deficiency hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency	Gclc	25283	Rattus norvegicus (Norway rat)
DOID:0110242	cataract 13 with adult i phenotype Aliases: CTRCT13	Gcnt2	14538	Mus musculus (house mouse)
DOID:0110242	cataract 13 with adult i phenotype Aliases: CTRCT13	Gcnt2	306860	Rattus norvegicus (Norway rat)
DOID:1270	hereditary hemorrhagic telangiectasia Aliases: Osler hemorrhagic telangiectasia syndrome Osler-Weber-Rendu disease Rendu-Osler-Weber disease	Gdf2 Tnf	12165 21926	Mus musculus (house mouse)
DOID:13810	familial hypercholesterolemia Aliases: Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia type II hyperlipidemia	Gk Rbp4	14933 19662	Mus musculus (house mouse)
DOID:13810	familial hypercholesterolemia Aliases: Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia type II hyperlipidemia	Gk Rbp4	25703 79223	Rattus norvegicus (Norway rat)
DOID:0060363	glycerol kinase deficiency	Gk	79223	Rattus norvegicus (Norway rat)
DOID:0060363	glycerol kinase deficiency	Gk2 Gk	14626 14933	Mus musculus (house mouse)
DOID:12804	mucopolysaccharidosis IV Aliases: Mucopolysaccharidosis, MPS-IV deficiency of N-acetylgalactosamine-6-sulphatase deficiency of chondroitinsulphatase galactosamine-6-sulfatase deficiency	Glb1	12091	Mus musculus (house mouse)
DOID:0080502	GM1 gangliosidosis type 1	Glb1	12091	Mus musculus (house mouse)
DOID:0111392	mucopolysaccharidosis type IVB Aliases: MPS IVB MPS4B Morquio disease type B Morquio syndrome B beta-D-galactosidase deficiency mucopolysaccharidosis type IVB (Morquio)	Glb1	12091	Mus musculus (house mouse)
DOID:0080501	GM1 gangliosidosis type 2 Aliases: juvenile GM1 gangliosidosis	Glb1	12091	Mus musculus (house mouse)
DOID:0080489	GM1 gangliosidosis type 3 Aliases: adult-onset GM1 gangliosidosis	Glb1	12091	Mus musculus (house mouse)
DOID:3322	GM1 gangliosidosis Aliases: Beta-galactosidase deficiency deficiency of beta-galactosidase gangliosidosis GM1	Glb1	12091	Mus musculus (house mouse)
DOID:3770	pulmonary fibrosis Aliases: Fibrosis of lung	GlcAT-I GlcAT-S Idgf1 Idgf2 Idgf3 Idgf4 Idgf5 Idgf6 N	251900 31293 31926 34282 34978 34979 34981 36868 37104	Drosophila melanogaster (fruit fly)
DOID:9206	Barrett's esophagus Aliases: Barrett esophagus Barrett's esophagus with esophagitis Barrett's oesophagus Barrett's ulcer of esophagus Barretts syndrome ulcerative esophagitis	GlcAT-I	251900	Drosophila melanogaster (fruit fly)
DOID:0080575	Larsen-like syndrome B3GAT3 type Aliases: Larsen-like syndrome, B3GAT3 type multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome	GlcAT-I	251900	Drosophila melanogaster (fruit fly)

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