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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 **2976 - 3000** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:2383	neonatal jaundice Aliases: neonatal hyperbilirubinemia neonatal icterus	G6pd2 G6pdx	14380 14381	Mus musculus (house mouse)
DOID:13413	hepatic encephalopathy Aliases: Portal-systemic encephalopathy	G6pd2 G6pdx	14380 14381	Mus musculus (house mouse)
DOID:13628	favism	G6pd2 G6pdx	14380 14381	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: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	Galc Tnf	14420 21926	Mus musculus (house mouse)
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	Galc	14420	Mus musculus (house mouse)
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	14420	Mus musculus (house mouse)
DOID:0110777	hereditary spastic paraplegia 26 Aliases: GM2 synthase deficiency SPG26 autosomal recessive spastic paraplegia 26 autosomal recessive spastic paraplegia type 26	B4galnt1	14421	Mus musculus (house mouse)
DOID:4079	heart valve disease Aliases: Valvular heart disease	Galnt1 Lrp5 Tnf	14423 16973 21926	Mus musculus (house mouse)
DOID:2843	long QT syndrome Aliases: LQT long Q-T syndrome	ACADM ACSBG1 ALG10 ALG10B CNTN3 CYP1A1 KCNQ1 PTEN SCD SLC2A5 SQLE	144245 1543 23205 34 3784 5067 5728 6319 6518 6713 84920	Homo sapiens (human)
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	ALG10 ALG10B LRP5	144245 4041 84920	Homo sapiens (human)
DOID:0110645	long QT syndrome 2 Aliases: LQT2	ALG10 ALG10B SCD	144245 6319 84920	Homo sapiens (human)
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)
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	Galt	14430	Mus musculus (house mouse)
DOID:1826	epilepsy Aliases: epilepsy syndrome epileptic syndrome	Atp1a2 Atp1a3 Gapdh Pgf Tmtc3 Tnf	14433 18654 21926 232975 237500 98660	Mus musculus (house mouse)
DOID:0050866	oral squamous cell carcinoma Aliases: mouth squamous cell carcinoma	Gapdh Gsk3b Tnf Trp53	14433 21926 22059 56637	Mus musculus (house mouse)
DOID:0050827	rheumatic heart disease Aliases: rheumatic carditis	Gapdh	14433	Mus musculus (house mouse)
DOID:0060108	brain glioma Aliases: lower grade glioma	Gapdh	14433	Mus musculus (house mouse)
DOID:12217	Lewy body dementia Aliases: Dementia with Lewy bodies Diffuse Lewy body disease Lewy body disease Senile dementia of the Lewy body type	Gba1 Igf2 Pcna	14466 16002 18538	Mus musculus (house mouse)
DOID:1926	Gaucher's disease Aliases: Gaucher disease acid beta-glucosidase deficiency glocucerebrosidase deficiency glucosylceramide beta-glucosidase deficiency kerasin thesaurismosis	Gba1 Tnf	14466 21926	Mus musculus (house mouse)
DOID:0112250	Gaucher's disease type IIIC Aliases: GD3C Gaucher disease type 3C Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher-like disease cardiovascular Gaucher disease	Gba1	14466	Mus musculus (house mouse)
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)
DOID:0050474	Netherton syndrome	Gba1	14466	Mus musculus (house mouse)
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)
DOID:0060892	late onset Parkinson's disease Aliases: late onset Parkinson disease	Gba1	14466	Mus musculus (house mouse)

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