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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 **6001 - 6025** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:3068	glioblastoma Aliases: GBM adult glioblastoma multiforme glioblastoma multiforme grade IV adult Astrocytic tumor primary glioblastoma multiforme spongioblastoma multiforme	CTS2 IDP1 IDP2 IDP3 NPP1 NPP2 PBS2	850391 850871 851493 851977 853313 855723 856699	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060698	hyperekplexia 3 Aliases: HKPX3	GlyT	37772	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111043	glycogen storage disease IXc Aliases: GSD type 9C GSD type IXc GSD9C glycogen storage disease type 9C glycogen storage disease type IXc glycogenosis type 9C glycogenosis type IXc	Phkg2	68961	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050157	cryptogenic organizing pneumonia Aliases: BOOP Cryptogenic organising pneumonitis Cryptogenic organizing pneumonitis bronchiolitis obliterans organising pneumonia bronchiolitis obliterans organizing pneumonia cryptogenic organising pneumonia idiopathic bronchiolitis obliterans with organising pneumonia idiopathic bronchiolitis obliterans with organizing pneumonia	Tnfrsf1a Tnfrsf1b	156767 25625	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:106	pleural tuberculosis Aliases: Pearly disease Tuberculosis of pleura Tuberculous pleurisy Tuberculous pleuritis tuberculous pleurisy in primary progressive tuberculosis	Tl	43222	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050792	multiple cutaneous and mucosal venous malformations Aliases: VMCM cutaneomucosal venous malformation mucocutaneous venous malformations	tek	30747	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080453	developmental and epileptic encephalopathy 25 Aliases: DEE25 developmental and epileptic encephalopathy 25, with amelogenesis imperfecta early infantile epileptic encephalopathy 25	PHO87 PHO90 PHO91	850403 853241 855747	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:11723	Duchenne muscular dystrophy Aliases: Muscular dystrophy, Duchenne	Ca-alpha1D Dg mew	32275 34950 36773	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3525	middle cerebral artery infarction	ace2 ace epoa gapdh has2 ngfb parp1 pdgfra slc12a2 smo vegfaa	100004455 260350 30225 30682 317743 386856 415170 492331 560788 565980 58133	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:2548	reflex epilepsy Aliases: epilepsy, sensory-induced	Trpv1	83810	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1287	cardiovascular system disease Aliases: disease of subdivision of hemolymphoid system	gys1	100490155	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:1798	pancreatic endocrine carcinoma Aliases: Islet cell carcinoma carcinoma of endocrine pancreas malignant neoplasm of islets of Langerhans pancreatic neuroendocrine carcinoma	Pgf	94203	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1099	alpha thalassemia Aliases: Alpha thalassaemia alpha-Thalassemia	GPX1 HBA1 HBA2 HBB HP	2876 3039 3040 3043 3240	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111969	immunodeficiency 39 Aliases: IMD39	IRF7	3665	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110345	osteogenesis imperfecta type 16 Aliases: OI16 chromosome 11p11.2 deletion syndrome 91.3-KB osteogenesis imperfecta type XVI	CREB3L1	90993	Homo sapiens (human)	Alliance of Genome Resources
DOID:10241	thalassemia Aliases: Sickle-cell thalassemia with crisis Sickle-cell thalassemia without crisis thalassemia Hb-S disease with crisis thalassemia Hb-S disease without crisis	PPP1R15A TNF	23645 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:11372	megacolon Aliases: Dilatation of colon	Ednrb	50672	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112243	congenital symmetric circumferential skin creases 2 Aliases: CSCSC2	MAPRE2	10982	Homo sapiens (human)	Alliance of Genome Resources
DOID:3443	mammary Paget's disease Aliases: Paget cell neoplasm Paget's disease Paget's disease of the breast mammary Paget disease	let-23	174462	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050975	spinocerebellar ataxia type 26	EEF2	1938	Homo sapiens (human)	Alliance of Genome Resources
DOID:4248	coronary stenosis Aliases: Coronary artery stenosis	Igf1r Itgav Lmcd1 Pecam1 Phactr1 Tnfrsf11b	16001 16410 18383 18613 218194 30937	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060866	patterned macular dystrophy 1 Aliases: MDPT1 butterfly-shaped pigmentary maculary dystrophy 1	prph2.S	398002	Xenopus laevis (African clawed frog)	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	779723	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0050524	maturity-onset diabetes of the young Aliases: MODY Mason-type diabetes	GCK HK2 HK3 HKDC1 HNF1A INS MAFA PDX1 TGM2	2645 3099 3101 3630 3651 389692 6927 7052 80201	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050855	renal fibrosis	Ace Adam17 Ager Clu Cybb Cygb Ece1 Ednra Eng Gpr21 Ifng Kras Lepr Mmp1a Mmp9 Ppargc1a Stat6 Tlr2 Tlr4	11421 114886 11491 11596 12759 13058 13617 13805 15978 16653 16847 17395 19017 20852 21898 230857 24088 338346 83995	Mus musculus (house mouse)	Alliance of Genome Resources

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