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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:10808	gastric ulcer	RGD:2332	Rattus norvegicus (Norway rat)	24255	Cftr	direct assay evidence used in manual assertion	PMID:23596793
DOID:0110009	achromatopsia 7	HGNC:791	Homo sapiens (human)	22926	ATF6	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:2377	multiple sclerosis	HGNC:1606	Homo sapiens (human)	1234	CCR5	inference by association of genotype from phenotype used in manual assertion	PMID:12451219
DOID:9970	obesity	FB:FBgn0021764	Drosophila melanogaster (fruit fly)	31017	sdk	combinatorial experimental and author inference evidence used in manual assertion	PMID:34748544
DOID:10763	hypertension	HGNC:2592	Homo sapiens (human)	1585	CYP11B2	inference by association of genotype from phenotype used in manual assertion	PMID:10024332
DOID:5419	schizophrenia	HGNC:2159	Homo sapiens (human)	1268	CNR1	inference by association of genotype from phenotype used in manual assertion	PMID:11803524 PMID:15613777
DOID:9538	multiple myeloma	HGNC:2621	Homo sapiens (human)	1557	CYP2C19	inference by association of genotype from phenotype used in manual assertion	PMID:17666363
DOID:0112182	mismatch repair cancer syndrome	HGNC:11998	Homo sapiens (human)	7157	TP53	inference by association of genotype from phenotype used in manual assertion	PMID:28218421
DOID:1115	sarcoma	HGNC:24054	Homo sapiens (human)	57082	KNL1	inference by association of genotype from phenotype used in manual assertion	PMID:31089155
DOID:526	human immunodeficiency virus infectious disease	HGNC:11849	Homo sapiens (human)	7098	TLR3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:7148	rheumatoid arthritis	HGNC:4886	Homo sapiens (human)	3077	HFE	inference by association of genotype from phenotype used in manual assertion	PMID:30651232
DOID:8552	chronic myeloid leukemia	HGNC:11920	Homo sapiens (human)	355	FAS	inference by association of genotype from phenotype used in manual assertion	PMID:26563376
DOID:234	colon adenocarcinoma	HGNC:2433	Homo sapiens (human)	1436	CSF1R	mutant phenotype evidence used in manual assertion	PMID:32304779
DOID:5419	schizophrenia	HGNC:12008	Homo sapiens (human)	7166	TPH1	inference by association of genotype from phenotype used in manual assertion	PMID:15211625
DOID:12803	mucopolysaccharidosis type VII	HGNC:4696	Homo sapiens (human)	2990	GUSB	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:6432	pulmonary hypertension	RGD:621647	Rattus norvegicus (Norway rat)	117064	Vip	direct assay evidence used in manual assertion	PMID:22140628
DOID:3008	invasive ductal carcinoma	HGNC:391	Homo sapiens (human)	207	AKT1	inference by association of genotype from phenotype used in manual assertion	PMID:18392055
DOID:9744	type 1 diabetes mellitus	MGI:2445054	Mus musculus (house mouse)	223870	Senp1	author statement supported by traceable reference	PMID:26596471
DOID:8869	neuromyelitis optica	HGNC:637	Homo sapiens (human)	361	AQP4	direct assay evidence used in manual assertion	PMID:16087714 PMID:18420727 PMID:20047900 PMID:23890015
DOID:0060233	cardiofaciocutaneous syndrome	MGI:1346866	Mus musculus (house mouse)	26395	Map2k1	author statement supported by traceable reference	PMID:29590634
DOID:0060295	complement component 2 deficiency	HGNC:1248	Homo sapiens (human)	717	C2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111158	SADDAN	HGNC:3690	Homo sapiens (human)	2261	FGFR3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:5419	schizophrenia	HGNC:1939	Homo sapiens (human)	10752	CHL1	inference by association of genotype from phenotype used in manual assertion	PMID:11986985
DOID:3534	Lafora disease	MGI:2145264	Mus musculus (house mouse)	105193	Nhlrc1	author statement supported by traceable reference	PMID:20538597 PMID:21077101 PMID:21882344 PMID:22186026
DOID:0050709	early infantile epileptic encephalopathy	SGD:S000005662	Saccharomyces cerevisiae S288C	854303	IDH2	sequence similarity evidence used in manual assertion	PMID:28058510

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