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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **6801 - 6825** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
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	Galc Psap	14420 19156	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9870	galactosemia Aliases: Galactosaemia Galactose intolerance	Gale Galt	33935 38076	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1588	thrombocytopenia	Gale if mys scb	32661 36692 38076 44885	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111458	galactose epimerase deficiency Aliases: GALE deficiency GALE-D UDP-galactose-4-epimerase deficiency epimerase deficiency galactosemia galactosemia III galactosemia type 3 uridine diphosphate galactose-4-epimerase deficiency	Gale	38076	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111458	galactose epimerase deficiency Aliases: GALE deficiency GALE-D UDP-galactose-4-epimerase deficiency epimerase deficiency galactosemia galactosemia III galactosemia type 3 uridine diphosphate galactose-4-epimerase deficiency	Gale	74246	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14695	galactokinase deficiency Aliases: Galactosemia II	Galk1	14635	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111391	mucopolysaccharidosis IVA Aliases: GALNS deficiency MPS IVA MPS4A Morquio A disease Morquio syndrome A	Galns	292073	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111391	mucopolysaccharidosis IVA Aliases: GALNS deficiency MPS IVA MPS4A Morquio A disease Morquio syndrome A	Galns	50917	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050571	congenital disorder of glycosylation type II	Galnt2	292090	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111063	hyperphosphatemic familial tumoral calcinosis Aliases: HFTC HHS PHPTC cortical hyperostosis with hyperphosphatemia familial Teutschlaender disease familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome hypercalcemic tumoral calcinosis hyperostosis with hyperphosphatemia hyperphosphatemia hyperostosis hyperphosphatemia hyperostosis syndrome hyperphosphatemia tumoral calcinosis lipocalcinogranulomatosis morbus Teutschlaender primary hyperphosphatemic tumoral calcinosis tumoral calcinosis with hyperphosphatemia	Galnt3 Kl	14425 16591	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111063	hyperphosphatemic familial tumoral calcinosis Aliases: HFTC HHS PHPTC cortical hyperostosis with hyperphosphatemia familial Teutschlaender disease familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome hypercalcemic tumoral calcinosis hyperostosis with hyperphosphatemia hyperphosphatemia hyperostosis hyperphosphatemia hyperostosis syndrome hyperphosphatemia tumoral calcinosis lipocalcinogranulomatosis morbus Teutschlaender primary hyperphosphatemic tumoral calcinosis tumoral calcinosis with hyperphosphatemia	Galnt3 Kl	366061 83504	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	Galt	14430	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	Galt	298003	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	Galt	33935	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050770	polycystic liver disease Aliases: congenital cystic liver disease congenital hepatic cyst fibrocystic liver disease	Ganab Pkd1 Prkcsh Sec63 Ucp2	140740 14376 18763 19089 22228	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110860	polycystic kidney disease 3 Aliases: Apkd3 Pkd3 Polycystic Kidney Disease, Adult, Type III	Ganab	14376	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060108	brain glioma Aliases: lower grade glioma	Gapdh1 Gapdh2 Ptp10D	32115 32545 35728	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3319	lymphangioleiomyomatosis Aliases: lung lymphangioleiomyomatosis lymphangiomyomatosis pulmonary lymphangioleiomyomatosis	Gapdh1 Gapdh2	32545 35728	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110107	atrial heart septal defect 2 Aliases: ASD2 atrial septal defect 2	Gata4	14463	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070048	GAND syndrome Aliases: MRD18 autosomal dominant intellectual developmental disorder 18 autosomal dominant mental retardation 18 autosomal dominant non-syndromic intellectual disability 18	Gatad2b	229542	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070048	GAND syndrome Aliases: MRD18 autosomal dominant intellectual developmental disorder 18 autosomal dominant mental retardation 18 autosomal dominant non-syndromic intellectual disability 18	Gatad2b	310614	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1926	Gaucher's disease Aliases: Gaucher disease acid beta-glucosidase deficiency glocucerebrosidase deficiency glucosylceramide beta-glucosidase deficiency kerasin thesaurismosis	Gba1 Psap Tnf	14466 19156 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050474	Netherton syndrome	Gba1 Spink5	14466 72432	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110958	Gaucher's disease type II Aliases: GD II GD2 Gaucher Disease, Acute Neuronopathic Type Infantile Cerebral Gaucher Disease	Gba1	14466	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110959	Gaucher's disease type III Aliases: GD III Gaucher Disease, Chronic Neuronopathic Type Gaucher Disease, Juvenile And Adult, Cerebral Gaucher Disease, Subacute Neuronopathic Type	Gba1	14466	Mus musculus (house mouse)	Alliance of Genome Resources

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