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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 **2701 - 2725** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:8886	chorioretinitis Aliases: retinochoroiditis	ACE ICAM1	1636 3383	Homo sapiens (human)
DOID:0050453	lissencephaly	PMT2 PMT3 PMT4 PMT6	851210 853113 853608 854499	Saccharomyces cerevisiae S288C
DOID:12554	hemolytic-uremic syndrome Aliases: haemolytic-uraemic syndrome hemolytic uremic syndrome	c1galt1c1	448225	Xenopus tropicalis (tropical clawed frog)
DOID:4284	anal margin carcinoma Aliases: Perianal skin carcinoma	CEACAM5 CEACAM7 LIPA PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMUG1	1048 1087 23583 3988 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:727	premenstrual tension	IL1RAP MCAT NANS PNPLA3	27349 3556 54187 80339	Homo sapiens (human)
DOID:1287	cardiovascular system disease Aliases: disease of subdivision of hemolymphoid system	gys1.L gys1.S	108696758 108697802	Xenopus laevis (African clawed frog)
DOID:2842	Jervell-Lange Nielsen syndrome Aliases: Jervell and Lange-Nielson syndrome	KCNQ1 NT5E	3784 4907	Homo sapiens (human)
DOID:3211	lysosomal storage disease Aliases: disorder of lysosomal enzyme inborn lysosomal enzyme disorder lysosomal storage metabolism disorder	Hexo1 Hexo2 fdl	250735 31808 38528	Drosophila melanogaster (fruit fly)
DOID:0111334	congenital leptin deficiency Aliases: LEPD leptin deficiency or dysfunction obesity due to congenital leptin deficiency	Lep	16846	Mus musculus (house mouse)
DOID:0050474	Netherton syndrome	ACE GBA1 ICAM1 PTGS2	1636 2629 3383 5743	Homo sapiens (human)
DOID:3042	allergic contact dermatitis	ACE CD1D CNTN3 CYP1A1 ELOVL6 FCGR3B HSD11B1 MRC1 NAMPT SDC1 SELE SLC2A3 ST6GAL1 TLR4 UPP1	10135 1543 1636 2215 3290 4360 5067 6382 6401 6480 6515 7099 7378 79071 912	Homo sapiens (human)
DOID:1289	neurodegenerative disease Aliases: degenerative disease	tir-1	175502	Caenorhabditis elegans
DOID:10763	hypertension Aliases: HTN hyperpiesia vascular hypertensive disorder	cgt-1 cgt-2 cgt-3 cht-1 enol-1	174001 174423 180628 181790 188169	Caenorhabditis elegans
DOID:0050813	spondyloepiphyseal dysplasia with congenital joint dislocations Aliases: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia humero-spinal dysostosis humerospinal dysostosis	Chst3	84468	Rattus norvegicus (Norway rat)
DOID:4971	myelofibrosis Aliases: Agnogenic myeloid metaplasia Aleukemic myelosis Megakaryocytic myelosclerosis bone Marrow Fibrosis myelosclerosis primary myelofibrosis	Calr	41166	Drosophila melanogaster (fruit fly)
DOID:4928	intrahepatic cholangiocarcinoma Aliases: Intrahepatic bile duct carcinoma peripheral Cholangiocarcinoma	Braf Idh2	109880 269951	Mus musculus (house mouse)
DOID:0080567	congenital disorder of glycosylation Ip Aliases: congenital disorder of glycosylation 1p	Alg11	207958	Mus musculus (house mouse)
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)
DOID:0090058	torsion dystonia with onset in infancy	ALDH5A1	7915	Homo sapiens (human)
DOID:9563	bronchiectasis Aliases: Polynesian bronchiectasis	CALR CEL FCN2 G6PC3 ICAM1 ISYNA1 LGALS9 MBL2 MICA NTM PARP9 PGM3 PIK3CD RGMA SFTPA1 SFTPA2 SFTPC SFTPD SLC27A5 TNF	100507436 1056 10998 2220 3383 3965 4153 50863 51477 5238 5293 56963 6440 6441 653509 7124 729238 811 83666 92579	Homo sapiens (human)
DOID:863	nervous system disease	Atp1a2 Atp1a3	232975 98660	Mus musculus (house mouse)
DOID:3459	breast carcinoma Aliases: Mammary carcinoma carcinoma of breast	enol-1	174423	Caenorhabditis elegans
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	hst-3.2	3564879	Caenorhabditis elegans
DOID:7848	interdigitating dendritic cell sarcoma Aliases: Interdigitating cell sarcoma	FCER2 SLC35B2	2208 347734	Homo sapiens (human)
DOID:2986	IgA glomerulonephritis Aliases: Berger's IgA or IgG nephropathy Focal Glomerulonephritis IgA nephropathy primary IgA nephropathy segmental glomerulonephritis	Tnf	24835	Rattus norvegicus (Norway rat)

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