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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 **6951 - 6975** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:0112218	developmental and epileptic encephalopathy 83 Aliases: DEE83 early infantile epileptic encephalopathy 83	UGP1	853830	Saccharomyces cerevisiae S288C
DOID:0112218	developmental and epileptic encephalopathy 83 Aliases: DEE83 early infantile epileptic encephalopathy 83	UGP2	7360	Homo sapiens (human)
DOID:12638	hypertrophic pyloric stenosis Aliases: congenital hypertrophic pyloric stenosis congenital or infantile stricture of pylorus	UGT1A1	54658	Homo sapiens (human)
DOID:0060062	familial juvenile hyperuricemic nephropathy	UMOD	7369	Homo sapiens (human)
DOID:9643	babesiosis Aliases: Babesiasis Infection by babesia piroplasmosis	UMOD	7369	Homo sapiens (human)
DOID:0050833	orotic aciduria	UMPS	7372	Homo sapiens (human)
DOID:0060759	immunodeficiency with hyper IgM type 5 Aliases: HIGM5 hyper-IgM syndrome 5 hyper-IgM syndrome due to UNG deficiency hyper-IgM syndrome due to uracil N-glycosylase	UNG	7374	Homo sapiens (human)
DOID:11702	dysgammaglobulinemia	UNG	7374	Homo sapiens (human)
DOID:0060758	immunodeficiency with hyper-IgM type 2 Aliases: AID deficiency HIGM2 activation-induced cytidine deaminase deficiency hyper-IgM syndrome type 2	UNG	7374	Homo sapiens (human)
DOID:11702	dysgammaglobulinemia	UNG1	854987	Saccharomyces cerevisiae S288C
DOID:0060759	immunodeficiency with hyper IgM type 5 Aliases: HIGM5 hyper-IgM syndrome 5 hyper-IgM syndrome due to UNG deficiency hyper-IgM syndrome due to uracil N-glycosylase	UNG1	854987	Saccharomyces cerevisiae S288C
DOID:0050833	orotic aciduria	URA3	856692	Saccharomyces cerevisiae S288C
DOID:0070265	congenital disorder of glycosylation type IIm Aliases: SLC35A2-CDG congenital disorder of glycosylation type 2m developmental and epileptic encephalopathy 22 epileptic encephalopathy, early infantile, 22	Ugalt	31255	Drosophila melanogaster (fruit fly)
DOID:0112218	developmental and epileptic encephalopathy 83 Aliases: DEE83 early infantile epileptic encephalopathy 83	Ugp2	216558	Mus musculus (house mouse)
DOID:11151	cholecystolithiasis	Ugt1a1	24861	Rattus norvegicus (Norway rat)
DOID:3803	Crigler-Najjar syndrome Aliases: Bilirubin UDP glucuronyl transferase deficiency Crigler Najjar syndrome Crigler-Najjar syndrome, type I	Ugt1a1	24861	Rattus norvegicus (Norway rat)
DOID:8692	myeloid leukemia Aliases: Non-Lymphocytic Leukemia leukaemia myelogenous leukemia myelogenous myeloid granulocytic leukaemia myeloid granulocytic leukemia myeloid leukaemia	Ugt1a1	24861	Rattus norvegicus (Norway rat)
DOID:2739	Gilbert syndrome Aliases: Constitutional hyperbilirubinemia Gilbert's disease Gilbert's syndrome Gilbert-Meulengracht syndrome hereditary nonhemolytic jaundice	Ugt1a1	24861	Rattus norvegicus (Norway rat)
DOID:10211	cholelithiasis	Ugt1a1	24861	Rattus norvegicus (Norway rat)
DOID:2741	bilirubin metabolic disorder Aliases: hereditary hyperbilirubinemia hyperbilirubinemia	Ugt1a1	24861	Rattus norvegicus (Norway rat)
DOID:10211	cholelithiasis	Ugt1a1	394436	Mus musculus (house mouse)
DOID:3803	Crigler-Najjar syndrome Aliases: Bilirubin UDP glucuronyl transferase deficiency Crigler Najjar syndrome Crigler-Najjar syndrome, type I	Ugt1a1	394436	Mus musculus (house mouse)
DOID:2739	Gilbert syndrome Aliases: Constitutional hyperbilirubinemia Gilbert's disease Gilbert's syndrome Gilbert-Meulengracht syndrome hereditary nonhemolytic jaundice	Ugt1a1	394436	Mus musculus (house mouse)
DOID:8692	myeloid leukemia Aliases: Non-Lymphocytic Leukemia leukaemia myelogenous leukemia myelogenous myeloid granulocytic leukaemia myeloid granulocytic leukemia myeloid leukaemia	Ugt1a1	394436	Mus musculus (house mouse)
DOID:11151	cholecystolithiasis	Ugt1a1	394436	Mus musculus (house mouse)

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