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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 **1601 - 1625** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:0080414	developmental and epileptic encephalopathy 15 Aliases: DEE15 early infantile epileptic encephalopathy 15	st3gal3	402789	Xenopus tropicalis (tropical clawed frog)
DOID:0081180	autosomal recessive intellectual developmental disorder 12	st3gal3	402789	Xenopus tropicalis (tropical clawed frog)
DOID:0110366	retinitis pigmentosa 33 Aliases: RP33	st3gal3	402789	Xenopus tropicalis (tropical clawed frog)
DOID:0111421	familial apolipoprotein A5 deficiency Aliases: familial APOA5 deficiency familial apolipoprotein A-V deficiency	LPL	4023	Homo sapiens (human)
DOID:0070202	familial partial lipodystrophy type 2 Aliases: FPLD2 familial lipodystrophy of limbs and lower trunk familial partial lipodystrophy Dunnigan type reverse partial lipodystrophy	LPL	4023	Homo sapiens (human)
DOID:0050527	obsolete familial hypertriglyceridemia	LPL	4023	Homo sapiens (human)
DOID:0111422	familial lipase maturation factor 1 deficiency Aliases: LPL and HL deficiency LPL and HTGL deficiency combined lipase deficiency familial LMF1 deficiency lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency	LPL	4023	Homo sapiens (human)
DOID:1172	hyperlipoproteinemia type IV Aliases: Endogenous hyperlipidaemia Fredrickson type IV Lipidemia Fredrickson type IV hyperlipoproteinemia Fredrickson type IV lipidaemia VLDL hyperlipoproteinemia familial hypertriglyceridemia	LPL	4023	Homo sapiens (human)
DOID:0111418	familial apolipoprotein C-II deficiency Aliases: C-II anapolipoproteinemia familial APOC2 deficiency familial apoC-II deficiency hyperlipoproteinemia, type 1b hyperlipoproteinemia, type Ib	LPL	4023	Homo sapiens (human)
DOID:1094	attention deficit hyperactivity disorder Aliases: ADHD attention deficit disorder hyperkinetic disorder	pip	40104	Drosophila melanogaster (fruit fly)
DOID:2211	factor XIII deficiency Aliases: Factor XIII deficiency disease Hereditary factor XIII deficiency disease deficiency, Laki-Lorand factor	LMAN1	3998	Homo sapiens (human)
DOID:2215	factor VII deficiency Aliases: deficiency, stable	LMAN1 MCFD2 NGLY1 PC	3998 5091 55768 90411	Homo sapiens (human)
DOID:2216	factor V deficiency Aliases: Hereditary hypoproaccelerinaemia Labile factor deficiency Proaccelerin deficiency deficiency, labile	LMAN1 MCFD2 NGLY1 PC	3998 5091 55768 90411	Homo sapiens (human)
DOID:2236	congenital afibrinogenemia Aliases: Factor I deficiency Fibrinogen deficiency	LMAN1 MCFD2 NGLY1 PC	3998 5091 55768 90411	Homo sapiens (human)
DOID:0050775	schneckenbecken dysplasia	frc	39943	Drosophila melanogaster (fruit fly)
DOID:0080572	congenital disorder of glycosylation Iw Aliases: congenital disorder of glycosylation 1w	stt3a.L stt3a.S	399234 779022	Xenopus laevis (African clawed frog)
DOID:2957	pulmonary tuberculosis	akt1.S	399170	Xenopus laevis (African clawed frog)
DOID:3748	esophagus squamous cell carcinoma Aliases: SCC of esophagus SCC of oesophagus oesophagus squamous cell carcinoma	akt1.S	399170	Xenopus laevis (African clawed frog)
DOID:5041	esophageal cancer Aliases: Ca lower third oesophagus Ca middle third oesophagus esophagus cancer malignant neoplasm of distal third of esophagus malignant neoplasm of lower third of oesophagus malignant neoplasm of middle third of oesophagus malignant neoplasm of proximal third of esophagus malignant neoplasm of upper third esophagus malignant tumor of Distal Third of esophagus malignant tumor of Proximal Third of esophagus malignant tumor of abdominal esophagus malignant tumor of the middle Third of the esophagus	akt1.S	399170	Xenopus laevis (African clawed frog)
DOID:2526	prostate adenocarcinoma	akt1.S	399170	Xenopus laevis (African clawed frog)
DOID:3069	malignant astrocytoma Aliases: Astrocytic tumor astrocytoma of Cerebrum astrocytoma of brain astroglioma cerebral astrocytoma	akt1.S	399170	Xenopus laevis (African clawed frog)
DOID:0050156	idiopathic pulmonary fibrosis Aliases: FIBROCYSTIC PULMONARY DYSPLASIA IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL cryptogenic fibrosing alveolitis	akt1.S	399170	Xenopus laevis (African clawed frog)
DOID:1612	breast cancer Aliases: breast tumor malignant neoplasm of breast malignant tumor of the breast mammary cancer mammary tumor primary breast cancer	akt1.S	399170	Xenopus laevis (African clawed frog)
DOID:5844	myocardial infarction Aliases: Myocardial infarct heart attack	akt1.S	399170	Xenopus laevis (African clawed frog)
DOID:3312	bipolar disorder Aliases: Manic Bipolar Affective disorder Manic Depressive disorder Manic bipolar I disorder bipolar depression bipolar disorder manic phase manic depression manic disorder mixed bipolar disorder	akt1.S	399170	Xenopus laevis (African clawed frog)

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