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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 **3851 - 3875** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:2738	pseudoxanthoma elasticum Aliases: Gronblad-Strandberg syndrome	Enpp1 Xylt1 Xylt2	18605 217119 233781	Mus musculus (house mouse)
DOID:0111910	spermatogenic failure Aliases: SPGF	Pdha2	18598	Mus musculus (house mouse)
DOID:3649	pyruvate decarboxylase deficiency Aliases: deficiency of pyruvic dehydrogenase pyruvate dehydrogenase complex deficiency disease pyruvate dehydrogenase deficiency	Dlat Pdha1 Pdha2 Pdhb	18597 18598 235339 68263	Mus musculus (house mouse)
DOID:10211	cholelithiasis	ugt-61	185500	Caenorhabditis elegans
DOID:4947	cholangiocarcinoma Aliases: adult primary Cholangiocarcinoma adult primary cholangiocellular carcinoma cholangiosarcoma	ugt-61	185500	Caenorhabditis elegans
DOID:2043	hepatitis B Aliases: chronic hepatitis B hepatitis B infection	ugt-61	185500	Caenorhabditis elegans
DOID:4988	alcoholic pancreatitis	ugt-61	185500	Caenorhabditis elegans
DOID:8692	myeloid leukemia Aliases: Non-Lymphocytic Leukemia leukaemia myelogenous leukemia myelogenous myeloid granulocytic leukaemia myeloid granulocytic leukemia myeloid leukaemia	ugt-61	185500	Caenorhabditis elegans
DOID:11151	cholecystolithiasis	ugt-61	185500	Caenorhabditis elegans
DOID:8778	Crohn's disease Aliases: Crohn disease Crohn's disease of colon Crohn's disease of large bowel Granulomatous Colitis Pediatric Crohn's disease	ugt-61	185500	Caenorhabditis elegans
DOID:2739	Gilbert syndrome Aliases: Constitutional hyperbilirubinemia Gilbert's disease Gilbert's syndrome Gilbert-Meulengracht syndrome hereditary nonhemolytic jaundice	ugt-61	185500	Caenorhabditis elegans
DOID:0050565	autosomal recessive nonsyndromic deafness	F38B6.6	185454	Caenorhabditis elegans
DOID:0081385	ataxia-telangiectasia-like disorder-2 Aliases: PCNA-related progressive neurodegenerative photosensitivity syndrome	Pcna	18538	Mus musculus (house mouse)
DOID:0080178	mucositis	Pcna	18538	Mus musculus (house mouse)
DOID:3571	liver cancer Aliases: Ca liver - primary Resectable malignant neoplasm of Liver hepatic cancer hepatic neoplasm malignant hepato-biliary neoplasm malignant neoplasm of liver malignant neoplasm of liver, not specified as primary or secondary malignant neoplasm of liver, primary malignant tumor of liver neoplasm of liver non-resectable primary hepatic malignant neoplasm primary liver cancer primary malignant neoplasm of liver resectable malignant neoplasm of the liver	Pcna	18538	Mus musculus (house mouse)
DOID:0110474	autosomal recessive nonsyndromic deafness 18B Aliases: DFNB18B autosomal recessive deafness 18B	Otog	18419	Mus musculus (house mouse)
DOID:0070300	multiple epiphyseal dysplasia 4 Aliases: EDM4 MED4 Polyepiphyseal dysplasia type 4 multiple epiphyseal dysplasia with bilateral patellae multiple epiphyseal dysplasia with clubfoot rMED	SLC26A2	1836	Homo sapiens (human)
DOID:2742	auditory system disease Aliases: ear and mastoid disease	CD14 SLC26A2	1836 929	Homo sapiens (human)
DOID:11527	laryngostenosis Aliases: Stenosis of larynx	FIG4 GLT8D1 SLC26A2	1836 55830 9896	Homo sapiens (human)
DOID:12175	dyshormonogenic goiter Aliases: dyshormonogenic goitre	ALDH7A1 PTGDS SLC26A2	1836 501 5730	Homo sapiens (human)
DOID:0060744	Pendred Syndrome Aliases: TDH2B congenital hypothyroidism due to dyshormonogenesis 2B deafness with goiter genetic defect in thyroid hormonogenesis 2B goiter-deafness syndrome thyroid dyshormonogenesis 2B	ALDH7A1 PTGDS SLC26A2	1836 501 5730	Homo sapiens (human)
DOID:3081	cystic lymphangioma Aliases: cystic Hygroma	LPL PIK3CA SLC26A2 TGDS	1836 23483 4023 5290	Homo sapiens (human)
DOID:13276	Mycoplasma pneumoniae pneumonia Aliases: Mycoplasma pneumonia Mycoplasmal pneumonia Pneumonia due to Eaton's agent Pneumonia due to Mycoplasma pneumoniae Pneumonia due to Mycoplasma pneumoniae (disorder) cold agglutinin positive pneumonia	C29E4.10	183002	Caenorhabditis elegans
DOID:11949	Creutzfeldt-Jakob disease Aliases: CJD Creutzfeldt Jacob syndrome Creutzfeldt Jakob disease Creutzfeldt-Jacob disease Jakob-Creutzfeldt disease Subacute spongiform encephalopathy Transmissible virus dementia	C29E4.10	183002	Caenorhabditis elegans
DOID:10587	Krabbe disease Aliases: Diffuse globoid body sclerosis GLOBOID CELL LEUKOENCEPHALOPATHY Galactosylceramide beta-galactosidase deficiency Krabbe's disease Krabbe's leukodystrophy beta galactocerebrosidase deficiency globoid cell leukodystrophy	C29E4.10	183002	Caenorhabditis elegans

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