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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 **5576 - 5600** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	alg1 alg3 b4galt1 b4galt1l nus1	334161 436629 550425 553725 768123	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0081210	autosomal recessive intellectual developmental disorder 46	NDST1	3340	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090032	Silverman-Handmaker type dyssegmental dysplasia	HSPG2	3339	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090005	Schwartz-Jampel syndrome 1 Aliases: Aberfeld syndrome Burton skeletal dysplasia Burton syndrome Catel-Hempel syndrome Catel-Hempel type dysostosis enchondralis metaepiphysaria Schwartz-Jampel syndrome type 1 Schwartz-Jampel-Aberfeld syndrome myotonic chondrodystrophy myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies osteochondromuscular dystrophy	HSPG2	3339	Homo sapiens (human)	Alliance of Genome Resources
DOID:2754	glycogen storage disease VI Aliases: Glycogen storage disease 6 Hers' disease glycogen storage disease type VI hepatic glycogen phosphorylase deficiency hepatophosphorylase deficiency glycogenosis	Glyp	33386	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3650	lactic acidosis	Glyp	33386	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2746	glycogen storage disease V Aliases: Glycogen storage disease 5 Glycogen storage disease, type V McArdle's disease glycogen storage disease type V myophosphorylase deficiency	Glyp	33386	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070114	Niemann-Pick disease type C2 Aliases: NPC2	Npc2a	33374	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1800	neuroendocrine carcinoma	Eno	33351	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:12783	migraine without aura Aliases: common migraine	Eno	33351	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3459	breast carcinoma Aliases: Mammary carcinoma carcinoma of breast	Egfr Eno Lerp fz tor	33351 35717 37455 43223 45307	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1712	aortic valve stenosis Aliases: Aortic stenosis Rheumatic aortic stenosis rheumatic aortic valve stenosis	Eno Jarid2 Octbeta2R sxc	33351 35486 39103 41549	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:14115	toxic shock syndrome Aliases: TSS toxic shock	Acer Ance Eno Octbeta2R Spn27A Spn28Dc Spn42Dd Spn88Ea	33351 34091 34189 34805 41549 45815 49804 49808	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110219	Brugada syndrome 2 Aliases: BRGDA2	Gpd1l	333433	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080348	Alzheimer's disease 1 Aliases: Alzheimer's disease 1, early onset	APLP1 APLP2 APP KLC2 KLC4 MPO PLAU	333 334 351 4353 5328 64837 89953	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110766	hereditary spastic paraplegia 13 Aliases: SPG13 autosomal dominant spastic paraplegia 13	HSPD1	3329	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060789	hypomyelinating leukodystrophy 4 Aliases: HLD4 MitCHAP60 disease Pelizaeus-Merzbacher-like disease due to HSPD1 mutation mitochondrial HSP60 chaperonopathy	HSPD1	3329	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070435	hyperphosphatasia with impaired intellectual development syndrome 3 Aliases: GPIBD8 HPMRS3 glycosylphosphatidylinositol biosynthesis defect 8 hyperphosphatasia with mental retardation syndrome 3	PGAP2	33258	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080585	Van Maldergem syndrome 1	ds	33245	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:988	mitral valve prolapse Aliases: Barlow's syndrome floppy mitral valve	Acer Ance ds	33245 34189 34805	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:13929	lacrimal duct obstruction Aliases: Blocked lacrimal canaliculus Obstruction of lacrimal canaliculus Obstruction of lacrimal ducts	IGSF3	3321	Homo sapiens (human)	Alliance of Genome Resources
DOID:4928	intrahepatic cholangiocarcinoma Aliases: Intrahepatic bile duct carcinoma peripheral Cholangiocarcinoma	ARID1A BAP1 FAS FASLG HSP90AA1 HSP90AB1 IDH1 IDH2 KRAS LCN2 LRP1B PBRM1 PTEN RNF43 RUNX1 SMAD4 TEP1	3320 3326 3417 3418 355 356 3845 3934 4089 53353 54894 55193 5728 7011 8289 8314 861	Homo sapiens (human)	Alliance of Genome Resources
DOID:6595	gastric tubular adenocarcinoma Aliases: tubular adenocarcinoma of stomach	smo	33196	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:5593	gastric papillary adenocarcinoma Aliases: Papillary adenocarcinoma of stomach	smo	33196	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:4914	esophagus adenocarcinoma Aliases: Oesophageal adenocarcinoma	Atg6 smo	33196 42850	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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