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Alliance of Genome Resources

Alliance of Genome Resources is a gene dataset, which contains curated genome information essential for the understanding of the genetics and genomic basis of human biology, health and disease. All data is retrieved from six major model organism databases and the Gene Ontology including FlyBase, Mouse Genome Database (MGI), Rat Genome Database (RGD), Saccharomyces Genome Database (SGD), WormBase, Zebrafish Information Network (ZFIN), and the GO Consortium. In GlyCosmos, only glycan-related disease information has been extracted from Alliance of Genome Resources.

Source	Last Updated
Alliance of Genome Resources	January 28, 2025

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Disease ID	Disease Name	Alliance of Genome Resources ID	Species	Gene ID	Gene Symbol	Evidence	References ▼
DOID:3343	glycoproteinosis	HGNC:13356	Homo sapiens (human)	57192	MCOLN1	inference by association of genotype from phenotype used in manual assertion	PMID:10973263
DOID:1588	thrombocytopenia	HGNC:7579	Homo sapiens (human)	4627	MYH9	inference by association of genotype from phenotype used in manual assertion	PMID:10973259
DOID:14219	renal tubular acidosis	HGNC:866	Homo sapiens (human)	50617	ATP6V0A4	inference by association of genotype from phenotype used in manual assertion	PMID:10973252
DOID:2256	osteochondrodysplasia	HGNC:11766	Homo sapiens (human)	7040	TGFB1	inference by association of genotype from phenotype used in manual assertion	PMID:10973241
DOID:4029	gastritis	RGD:62084	Rattus norvegicus (Norway rat)	29319	Cblif	mutant phenotype evidence used in manual assertion	PMID:1097299
DOID:0050437	Danon disease	MGI:96748	Mus musculus (house mouse)	16784	Lamp2	author statement supported by traceable reference	PMID:10972293 PMID:28526246 PMID:34459252
DOID:9970	obesity	MGI:96929	Mus musculus (house mouse)	17201	Mc3r	author statement supported by traceable reference	PMID:10965927
DOID:8584	Burkitt lymphoma	HGNC:1455	Homo sapiens (human)	811	CALR	mutant phenotype evidence used in manual assertion	PMID:10961892 PMID:9858521
DOID:10591	pre-eclampsia	HGNC:4944	Homo sapiens (human)	3119	HLA-DQB1	inference by association of genotype from phenotype used in manual assertion	PMID:10960630
DOID:0060574	von Willebrand's disease 2	HGNC:12726	Homo sapiens (human)	7450	VWF	inference by association of genotype from phenotype used in manual assertion	PMID:10959688 PMID:26019279 PMID:8839848 RGD:7240710
DOID:10112	sleeping sickness	SGD:S000003110	Saccharomyces cerevisiae S288C	852735	GPI10	sequence similarity evidence used in manual assertion	PMID:10954751
DOID:10112	sleeping sickness	SGD:S000003110	Saccharomyces cerevisiae S288C	852735	GPI10	genetic interaction evidence used in manual assertion	PMID:10954751
DOID:10763	hypertension	HGNC:3020	Homo sapiens (human)	1812	DRD1	inference by association of genotype from phenotype used in manual assertion	PMID:10948075
DOID:9744	type 1 diabetes mellitus	MGI:97551	Mus musculus (house mouse)	18646	Prf1	author statement supported by traceable reference	PMID:10946317
DOID:0060610	megacystis-microcolon-intestinal hypoperistalsis syndrome	MGI:88398	Mus musculus (house mouse)	12671	Chrm3	author statement supported by traceable reference	PMID:10944224
DOID:0060691	platelet-type bleeding disorder 16	MGI:96601	Mus musculus (house mouse)	16399	Itga2b	author statement supported by traceable reference	PMID:10942384
DOID:8924	autoimmune thrombocytopenic purpura	HGNC:6156	Homo sapiens (human)	3690	ITGB3	direct assay evidence used in manual assertion	PMID:10936026
DOID:10003	sensorineural hearing loss	HGNC:4172	Homo sapiens (human)	2625	GATA3	inference by association of genotype from phenotype used in manual assertion	PMID:10935639
DOID:2527	nephrosis	HGNC:4172	Homo sapiens (human)	2625	GATA3	inference by association of genotype from phenotype used in manual assertion	PMID:10935639
DOID:11199	hypoparathyroidism	HGNC:4172	Homo sapiens (human)	2625	GATA3	inference by association of genotype from phenotype used in manual assertion	PMID:10935639
DOID:9993	hypoglycemia	HGNC:12519	Homo sapiens (human)	7352	UCP3	mutant phenotype evidence used in manual assertion	PMID:10935638
DOID:3770	pulmonary fibrosis	HGNC:6000	Homo sapiens (human)	3557	IL1RN	inference by association of genotype from phenotype used in manual assertion	PMID:10934117 PMID:17056243
DOID:684	hepatocellular carcinoma	HGNC:6001	Homo sapiens (human)	3558	IL2	direct assay evidence used in manual assertion	PMID:10933975 PMID:9449371
DOID:2121	ectodermal dysplasia	HGNC:9706	Homo sapiens (human)	5818	NECTIN1	inference by association of genotype from phenotype used in manual assertion	PMID:10932188
DOID:9296	cleft lip	HGNC:9706	Homo sapiens (human)	5818	NECTIN1	inference by association of genotype from phenotype used in manual assertion	PMID:10932188

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