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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 **12176 - 12200** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:13909	red-green color blindness Aliases: Deutan defect Deuteranopia Reduced red-green discrimination	Opn1mw	14539	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050679	blue cone monochromacy	Opn1mw	14539	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110242	cataract 13 with adult i phenotype Aliases: CTRCT13	Gcnt2	14538	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112306	Mahvash Disease Aliases: GCGR-related hyperglucagonemia nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor	Gcgr	14527	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13372	alpha 1-antitrypsin deficiency Aliases: AAT deficiency	SERPINA12 SERPINA1 SERPINB1 SERPINC1 SERPINE2 SERPINI1 SERPINI2 SYVN1	145264 1992 462 5265 5270 5274 5276 84447	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080201	Peters plus syndrome Aliases: Krause-Kivlin syndrome Peters anomaly-short limb dwarfism syndrome Peters-plus syndrome	B3GLCT	145173	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:1586	rheumatic fever Aliases: ACUTE RHEUMATIC FEVER RhF - Rheumatic fever	Gc H2-Aa H2-Ab1 H2-Eb1 Icam1	14473 14960 14961 14969 15894	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110960	Gaucher's disease perinatal lethal Aliases: Fetal Gaucher Disease Gaucher Disease, Collodion Type	Gba1	14466	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: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)	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
DOID:0110957	Gaucher's disease type I Aliases: Acid Beta-Glucosidase Deficiency GD I GD1 Gaucher Disease, Noncerebral Juvenile Gba Deficiency Glucocerebrosidase Deficiency	Gba1	14466	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: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:0110107	atrial heart septal defect 2 Aliases: ASD2 atrial septal defect 2	Gata4	14463	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1657	ventricular septal defect Aliases: Interventricular septal defect Ventricular septal abnormality	Evc Gata4 Igf2 Mmp9 Sall4 Tbx20	14463 16002 17395 57246 59056 99377	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10754	otitis media	A2ML1 BTC CAT CTSB CTSK CTSL CTSV DNAH5 E2F4 ENPP1 EYA4 FGFR1 ICAM1 IDUA IFNG IL10 IL1A IL6 LMNA MBL2 MECOM MUC1 MUC4 MUC5AC MUC5B NAGLU NOS2 PHEX RELA SALL4 SCN2B SH3PXD2B TGIF1 TLR2 TLR4 TNF	144568 1508 1513 1514 1515 1767 1874 2070 2122 2260 285590 3383 3425 3458 3552 3569 3586 4000 4153 4582 4585 4586 4669 4843 5167 5251 57167 5970 6327 685 7050 7097 7099 7124 727897 847	Homo sapiens (human)	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: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:0110645	long QT syndrome 2 Aliases: LQT2	ALG10B KCNH2 KCNH6	144245 3757 81033	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	ALG10 ALG10B DYNC2H1 KLC2 LRP5 MTO1 PPIP5K2 USH2A WFS1	144245 23262 25821 4041 64837 7399 7466 79659 84920	Homo sapiens (human)	Alliance of Genome Resources
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)	Alliance of Genome Resources
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: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 Il13 Tnf	14420 16163 21926	Mus musculus (house mouse)	Alliance of Genome Resources
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 H2-Ab1 Mapt Nefh Nefl Prnp Ptgs1 Ptgs2 Serpina3a Serpina3b Serpina3c Serpina3f Serpina3j Serpina3k Serpina3m Serpina3n Snca Stx1a Ywhag	14420 14961 16625 17762 18039 19122 19224 19225 20617 20714 20716 20717 20907 22628 238393 238395 271047 380684 74069	Mus musculus (house mouse)	Alliance of Genome Resources

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