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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:0050646	distal arthrogryposis	HGNC:16305	Homo sapiens (human)	170689	ADAMTS15	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080447	developmental and epileptic encephalopathy 43	HGNC:4083	Homo sapiens (human)	2562	GABRB3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:14451	hyperkalemic periodic paralysis	MGI:98250	Mus musculus (house mouse)	110880	Scn4a	author statement supported by traceable reference	PMID:18317596
DOID:10487	Hirschsprung's disease	MGI:96533	Mus musculus (house mouse)	16147	Ihh	author statement supported by traceable reference	PMID:10821773
DOID:0080380	nephrotic syndrome type 5	HGNC:6487	Homo sapiens (human)	3913	LAMB2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111422	familial lipase maturation factor 1 deficiency	HGNC:14154	Homo sapiens (human)	64788	LMF1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:9074	systemic lupus erythematosus	HGNC:6371	Homo sapiens (human)	3818	KLKB1	inference by association of genotype from phenotype used in manual assertion	PMID:19307730
DOID:1928	Williams-Beuren syndrome	MGI:1313278	Mus musculus (house mouse)	14371	Fzd9	author statement supported by traceable reference	PMID:15930120 PMID:21402791
DOID:12029	sympathetic ophthalmia	HGNC:4948	Homo sapiens (human)	3123	HLA-DRB1	inference by association of genotype from phenotype used in manual assertion	PMID:11222331 PMID:9062965
DOID:83	cataract	HGNC:4118	Homo sapiens (human)	2584	GALK1	inference by association of genotype from phenotype used in manual assertion	PMID:7670469
DOID:10587	Krabbe disease	HGNC:4115	Homo sapiens (human)	2581	GALC	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:1682	congenital heart disease	HGNC:6188	Homo sapiens (human)	182	JAG1	inference by association of genotype from phenotype used in manual assertion	PMID:12022040
DOID:162	cancer	SGD:S000000935	Saccharomyces cerevisiae S288C	856870	GLC7	genetic interaction evidence used in manual assertion	PMID:26354769
DOID:289	endometriosis	RGD:2886	Rattus norvegicus (Norway rat)	25325	Il10	direct assay evidence used in manual assertion	PMID:21665488
DOID:4362	cervical cancer	HGNC:7155	Homo sapiens (human)	4312	MMP1	inference by association of genotype from phenotype used in manual assertion	PMID:14550952
DOID:0050909	extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue	HGNC:4942	Homo sapiens (human)	3117	HLA-DQA1	inference by association of genotype from phenotype used in manual assertion	PMID:16234023
DOID:2841	asthma	HGNC:1516	Homo sapiens (human)	847	CAT	direct assay evidence used in manual assertion	PMID:16622028
DOID:14330	Parkinson's disease	SGD:S000003394	Saccharomyces cerevisiae S288C	853071	TIF4631	sequence similarity evidence used in manual assertion	PMID:25533483
DOID:9976	heroin dependence	HGNC:4585	Homo sapiens (human)	2903	GRIN2A	inference by association of genotype from phenotype used in manual assertion	PMID:23940648 PMID:25366762
DOID:7575	pancreatic intraductal papillary-mucinous neoplasm	HGNC:11998	Homo sapiens (human)	7157	TP53	inference by association of genotype from phenotype used in manual assertion	PMID:28930868
DOID:1324	lung cancer	HGNC:9896	Homo sapiens (human)	8241	RBM10	inference by association of genotype from phenotype used in manual assertion	PMID:33219256
DOID:0080600	COVID-19	HGNC:18363	Homo sapiens (human)	282618	IFNL1	mutant phenotype evidence used in manual assertion	PMID:32854108
DOID:418	systemic scleroderma	HGNC:3467	Homo sapiens (human)	2099	ESR1	inference by association of genotype from phenotype used in manual assertion	PMID:19032828
DOID:10763	hypertension	HGNC:17870	Homo sapiens (human)	27130	INVS	inference by association of genotype from phenotype used in manual assertion	PMID:19177160
DOID:7693	abdominal aortic aneurysm	HGNC:7158	Homo sapiens (human)	4321	MMP12	direct assay evidence used in manual assertion	PMID:16115023

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