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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:14323	Marfan syndrome	WB:WBGene00000900	Caenorhabditis elegans	175781	daf-4	mutant phenotype evidence used in manual assertion	PMID:31071172
DOID:0110176	Charcot-Marie-Tooth disease axonal type 2X	HGNC:11226	Homo sapiens (human)	80208	SPG11	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0081267	graft-versus-host disease	HGNC:2505	Homo sapiens (human)	1493	CTLA4	direct assay evidence used in manual assertion	PMID:7515723
DOID:1826	epilepsy	FB:FBgn0020312	Drosophila melanogaster (fruit fly)	37401	Tmtc3	combinatorial experimental and author inference evidence used in manual assertion	PMID:28973161
DOID:9258	Waardenburg syndrome	HGNC:6343	Homo sapiens (human)	4254	KITLG	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0090003	agenesis of the corpus callosum with peripheral neuropathy	HGNC:10914	Homo sapiens (human)	9990	SLC12A6	inference by association of genotype from phenotype used in manual assertion	PMID:16606917 RGD:7240710
DOID:0070425	combined oxidative phosphorylation deficiency 52	HGNC:15910	Homo sapiens (human)	9054	NFS1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:8505	dermatitis herpetiformis	HGNC:6709	Homo sapiens (human)	4049	LTA	inference by association of genotype from phenotype used in manual assertion	PMID:7914110
DOID:13406	pulmonary sarcoidosis	HGNC:1606	Homo sapiens (human)	1234	CCR5	inference by association of genotype from phenotype used in manual assertion	PMID:19679608
DOID:684	hepatocellular carcinoma	HGNC:13633	Homo sapiens (human)	9370	ADIPOQ	inference by association of genotype from phenotype used in manual assertion	PMID:23740135
DOID:1338	congenital dyserythropoietic anemia	HGNC:1713	Homo sapiens (human)	146059	CDAN1	inference by association of genotype from phenotype used in manual assertion	PMID:16098079
DOID:5844	myocardial infarction	RGD:621065	Rattus norvegicus (Norway rat)	116630	Csf2	mutant phenotype evidence used in manual assertion	PMID:21326109
DOID:3310	atopic dermatitis	MGI:96541	Mus musculus (house mouse)	16163	Il13	author statement supported by traceable reference	PMID:18830273
DOID:0110423	dilated cardiomyopathy 1C	HGNC:15710	Homo sapiens (human)	11155	LDB3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:1793	pancreatic cancer	HGNC:1571	Homo sapiens (human)	887	CCKBR	mutant phenotype evidence used in manual assertion	PMID:15688412
DOID:4677	keratitis	HGNC:11850	Homo sapiens (human)	7099	TLR4	inference by association of genotype from phenotype used in manual assertion	PMID:24074256
DOID:11724	limb-girdle muscular dystrophy	SGD:S000006012	Saccharomyces cerevisiae S288C	856014	GLR1	sequence similarity evidence used in manual assertion	PMID:30515627
DOID:0080822	aspirin-induced respiratory disease	HGNC:4951	Homo sapiens (human)	3125	HLA-DRB3	inference by association of genotype from phenotype used in manual assertion	PMID:25975240
DOID:224	transient cerebral ischemia	RGD:3184	Rattus norvegicus (Norway rat)	24598	Nos1	direct assay evidence used in manual assertion	PMID:23806217
DOID:1612	breast cancer	HGNC:2873	Homo sapiens (human)	1727	CYB5R3	inference by association of genotype from phenotype used in manual assertion	PMID:25225034
DOID:0110736	neurodegeneration with brain iron accumulation 2b	HGNC:9039	Homo sapiens (human)	8398	PLA2G6	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080334	aortic valve disease 2	HGNC:6772	Homo sapiens (human)	4091	SMAD6	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:820	myocarditis	RGD:628641	Rattus norvegicus (Norway rat)	84023	Ptger4	mutant phenotype evidence used in manual assertion	PMID:21383594
DOID:2957	pulmonary tuberculosis	HGNC:10609	Homo sapiens (human)	6346	CCL1	inference by association of genotype from phenotype used in manual assertion	PMID:19057661
DOID:9352	type 2 diabetes mellitus	HGNC:11621	Homo sapiens (human)	6927	HNF1A	inference by association of genotype from phenotype used in manual assertion	PMID:17828387 PMID:18003757 PMID:18332101 PMID:20716378 PMID:21208426 PMID:27087001 PMID:8945470 RGD:7240710

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