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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

Displaying entries **126 - 150** of **14279** in total

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Disease ID	Disease Name	Alliance of Genome Resources ID	Species	Gene ID	Gene Symbol	Evidence	References ▲
DOID:0070195	X-linked chronic granulomatous disease	HGNC:2578	Homo sapiens (human)	1536	CYBB	inference by association of genotype from phenotype used in manual assertion	PMID:10068684 PMID:7694872 RGD:7240710
DOID:10762	portal hypertension	RGD:3876	Rattus norvegicus (Norway rat)	24835	Tnf	mutant phenotype evidence used in manual assertion	PMID:10070045 PMID:7875478 PMID:9537427
DOID:8991	cervix uteri carcinoma in situ	HGNC:4948	Homo sapiens (human)	3123	HLA-DRB1	inference by association of genotype from phenotype used in manual assertion	PMID:10073700 PMID:15458897 PMID:18351579
DOID:13481	thanatophoric dysplasia	HGNC:3690	Homo sapiens (human)	2261	FGFR3	inference by association of genotype from phenotype used in manual assertion	PMID:10073901
DOID:224	transient cerebral ischemia	RGD:621862	Rattus norvegicus (Norway rat)	81647	Atf2	direct assay evidence used in manual assertion	PMID:10077326
DOID:224	transient cerebral ischemia	RGD:620218	Rattus norvegicus (Norway rat)	81646	Creb1	direct assay evidence used in manual assertion	PMID:10077326
DOID:1588	thrombocytopenia	HGNC:7217	Homo sapiens (human)	4352	MPL	inference by association of genotype from phenotype used in manual assertion	PMID:10077649
DOID:3070	high grade glioma	RGD:2866	Rattus norvegicus (Norway rat)	25712	Ifng	direct assay evidence used in manual assertion	PMID:10078962
DOID:2986	IgA glomerulonephritis	HGNC:6000	Homo sapiens (human)	3557	IL1RN	direct assay evidence used in manual assertion	PMID:10079261 PMID:9370186 PMID:9844059
DOID:2734	keratosis follicularis	HGNC:812	Homo sapiens (human)	488	ATP2A2	inference by association of genotype from phenotype used in manual assertion	PMID:10080178 RGD:7240710
DOID:0070247	autosomal dominant Emery-Dreifuss muscular dystrophy 2	HGNC:6636	Homo sapiens (human)	4000	LMNA	inference by association of genotype from phenotype used in manual assertion	PMID:10080180 PMID:10814726 PMID:17701980 RGD:7240710
DOID:0060439	lysinuric protein intolerance	HGNC:11065	Homo sapiens (human)	9056	SLC7A7	inference by association of genotype from phenotype used in manual assertion	PMID:10080182 RGD:7240710
DOID:0050788	proximal symphalangism	HGNC:7866	Homo sapiens (human)	9241	NOG	inference by association of genotype from phenotype used in manual assertion	PMID:10080184 PMID:11846737 PMID:24326127
DOID:0081317	multiple synostoses syndrome 1	HGNC:7866	Homo sapiens (human)	9241	NOG	inference by association of genotype from phenotype used in manual assertion	PMID:10080184 PMID:16151340 RGD:7240710
DOID:2377	multiple sclerosis	HGNC:2505	Homo sapiens (human)	1493	CTLA4	inference by association of genotype from phenotype used in manual assertion	PMID:10082437 PMID:19740340
DOID:10825	essential hypertension	HGNC:7944	Homo sapiens (human)	4882	NPR2	inference by association of genotype from phenotype used in manual assertion	PMID:10082481
DOID:2217	Bernard-Soulier syndrome	HGNC:4439	Homo sapiens (human)	2811	GP1BA	inference by association of genotype from phenotype used in manual assertion	PMID:10089893 PMID:10996832 PMID:11776304 PMID:19404517 PMID:21173099 PMID:23995613 RGD:7240710
DOID:2256	osteochondrodysplasia	HGNC:2219	Homo sapiens (human)	1299	COL9A3	inference by association of genotype from phenotype used in manual assertion	PMID:10090888
DOID:5844	myocardial infarction	HGNC:613	Homo sapiens (human)	348	APOE	inference by association of genotype from phenotype used in manual assertion	PMID:10090925 PMID:17217375
DOID:0060601	alpha-2-plasmin inhibitor deficiency	MGI:107173	Mus musculus (house mouse)	18816	Serpinf2	author statement supported by traceable reference	PMID:10090937 PMID:10318667
DOID:2741	bilirubin metabolic disorder	HGNC:12530	Homo sapiens (human)	54658	UGT1A1	inference by association of genotype from phenotype used in manual assertion	PMID:10091405 RGD:7240710
DOID:3883	Lynch syndrome	MGI:101938	Mus musculus (house mouse)	17350	Mlh1	author statement supported by traceable reference	PMID:10096563
DOID:14323	Marfan syndrome	MGI:95489	Mus musculus (house mouse)	14118	Fbn1	author statement supported by traceable reference	PMID:10097121 PMID:15254584 PMID:15546004 PMID:16407178 PMID:21152435 PMID:9326947
DOID:5041	esophageal cancer	HGNC:13861	Homo sapiens (human)	11178	LZTS1	inference by association of genotype from phenotype used in manual assertion	PMID:10097140
DOID:1749	squamous cell carcinoma	HGNC:13861	Homo sapiens (human)	11178	LZTS1	inference by association of genotype from phenotype used in manual assertion	PMID:10097140

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