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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 **1926 - 1950** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0080550	Noonan syndrome with multiple lentigines 3 Aliases: LEOPARD syndrome 3	Braf	109880	Mus musculus (house mouse)
DOID:13636	Fanconi anemia Aliases: Fanconi anaemia Fanconi pancytopenia Fanconi panmyelopathy Fanconi's anaemia Fanconi's anemia	Tnf	21926	Mus musculus (house mouse)
DOID:2752	glycogen storage disease II Aliases: Generalized glycogenosis Glycogen storage disease 2 Glycogen storage disease, type II Glycogenosis, type 2 Lysosomal alpha-1,4-glucosidase deficiency Pompe's disease acid maltase deficiency deficiency of glucoamylase deficiency of maltase glycogen storage disease type II	Gaa	14387	Mus musculus (house mouse)
DOID:6039	uveal melanoma Aliases: melanoma of Uvea	Mbd4	17193	Mus musculus (house mouse)
DOID:0081376	obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy	Sord	20322	Mus musculus (house mouse)
DOID:4780	anti-basement membrane glomerulonephritis Aliases: anti-GBM glomerulonephritis	Mapk14 Tnf	21926 26416	Mus musculus (house mouse)
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:891	progressive myoclonus epilepsy Aliases: PME progressive myoclonic epilepsy	Epm2a	13853	Mus musculus (house mouse)
DOID:0060645	chronic recurrent multifocal osteomyelitis Aliases: CRMO chronic multifocal osteomyelitis	Il1r1	16177	Mus musculus (house mouse)
DOID:440	neuromuscular disease	Gpi1	14751	Mus musculus (house mouse)
DOID:11266	Hantavirus hemorrhagic fever with renal syndrome Aliases: HFRS Hemorrhagic fever, Russian Hemorrhagic nephrosonephritis Puumala virus nephropathy	Il1rl1	17082	Mus musculus (house mouse)
DOID:0080489	GM1 gangliosidosis type 3 Aliases: adult-onset GM1 gangliosidosis	Glb1	12091	Mus musculus (house mouse)
DOID:9146	visceral leishmaniasis Aliases: Infection by visceral leishmaniasis Kala-Azar	Tnf	21926	Mus musculus (house mouse)
DOID:409	liver disease Aliases: disorder of liver hepatic disorder	Tnf	21926	Mus musculus (house mouse)
DOID:13564	aspergillosis Aliases: Infection due to Aspergillus	Tlr1 Tlr6	21897 21899	Mus musculus (house mouse)
DOID:0060189	ileitis Aliases: Crohn's ileitis	Tlr2 Tlr4	21898 24088	Mus musculus (house mouse)
DOID:0080575	Larsen-like syndrome B3GAT3 type Aliases: Larsen-like syndrome, B3GAT3 type multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome	B3gat3	72727	Mus musculus (house mouse)
DOID:0112233	lissencephaly 8 Aliases: LIS8	Tmtc3	237500	Mus musculus (house mouse)
DOID:0050884	triosephosphate isomerase deficiency Aliases: Triose phosphate-isomerase deficiency	Tpi1	21991	Mus musculus (house mouse)
DOID:1825	childhood absence epilepsy Aliases: petit mal seizure pyknolepsy	Npy1r	18166	Mus musculus (house mouse)
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	Galt	14430	Mus musculus (house mouse)
DOID:0070385	developmental and epileptic encephalopathy 99 Aliases: DEE99 early infantile epileptic encephalopathy 99	Atp1a3	232975	Mus musculus (house mouse)
DOID:0110957	Gaucher's disease type I Aliases: Acid Beta-Glucosidase Deficiency GD I GD1 Gaucher Disease, Noncerebral Juvenile Gba Deficiency Glucocerebrosidase Deficiency	Gba1	14466	Mus musculus (house mouse)
DOID:10325	silicosis Aliases: Pneumoconiosis due to silicates Silica pneumoconiosis Silicotic fibrosis of lung silicotuberculosis	Chia1 Tnf	21926 81600	Mus musculus (house mouse)
DOID:559	acute pyelonephritis	Rbp4	19662	Mus musculus (house mouse)

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