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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:1059	intellectual disability	HGNC:11055	Homo sapiens (human)	6535	SLC6A8	inference by association of genotype from phenotype used in manual assertion	PMID:11898126
DOID:2101	vulva squamous cell carcinoma	HGNC:10773	Homo sapiens (human)	2810	SFN	direct assay evidence used in manual assertion	PMID:11896620
DOID:2236	congenital afibrinogenemia	MGI:95526	Mus musculus (house mouse)	99571	Fgg	author statement supported by traceable reference	PMID:11891199
DOID:3025	acinar cell carcinoma	HGNC:583	Homo sapiens (human)	324	APC	inference by association of genotype from phenotype used in manual assertion	PMID:11891193
DOID:1485	cystic fibrosis	HGNC:7872	Homo sapiens (human)	4842	NOS1	direct assay evidence used in manual assertion	PMID:11890749
DOID:3393	coronary artery disease	HGNC:6724	Homo sapiens (human)	4060	LUM	direct assay evidence used in manual assertion	PMID:11890723
DOID:1059	intellectual disability	HGNC:3571	Homo sapiens (human)	2182	ACSL4	inference by association of genotype from phenotype used in manual assertion	PMID:11889465
DOID:9970	obesity	HGNC:6931	Homo sapiens (human)	4159	MC3R	inference by association of genotype from phenotype used in manual assertion	PMID:11889220 PMID:16123355
DOID:10603	glucose intolerance	HGNC:9204	Homo sapiens (human)	5444	PON1	inference by association of genotype from phenotype used in manual assertion	PMID:11889198
DOID:12361	Graves' disease	HGNC:12373	Homo sapiens (human)	7253	TSHR	inference by association of genotype from phenotype used in manual assertion	PMID:11887032 PMID:19244275 PMID:21124799 PMID:21642385 RGD:7240710
DOID:9352	type 2 diabetes mellitus	HGNC:320	Homo sapiens (human)	177	AGER	inference by association of genotype from phenotype used in manual assertion	PMID:11884895 PMID:21067572
DOID:0050524	maturity-onset diabetes of the young	MGI:98731	Mus musculus (house mouse)	21817	Tgm2	author statement supported by traceable reference	PMID:11883932 PMID:12205028 PMID:12651621
DOID:10763	hypertension	RGD:3186	Rattus norvegicus (Norway rat)	24600	Nos3	direct assay evidence used in manual assertion	PMID:11882615 PMID:29285068
DOID:2320	obstructive lung disease	HGNC:7155	Homo sapiens (human)	4312	MMP1	inference by association of genotype from phenotype used in manual assertion	PMID:11875051
DOID:10588	adrenoleukodystrophy	MGI:1349215	Mus musculus (house mouse)	11666	Abcd1	author statement supported by traceable reference	PMID:11875044 PMID:15489218 PMID:9126326 PMID:9256488 PMID:9418970
DOID:3210	Pelizaeus-Merzbacher disease	MGI:97623	Mus musculus (house mouse)	18823	Plp1	author statement supported by traceable reference	PMID:11872612 PMID:17133418 PMID:17394578 PMID:18835559 PMID:20091761
DOID:0060466	gingival fibromatosis	HGNC:11187	Homo sapiens (human)	6654	SOS1	direct assay evidence used in manual assertion	PMID:11868160
DOID:2043	hepatitis B	HGNC:9437	Homo sapiens (human)	5610	EIF2AK2	mutant phenotype evidence used in manual assertion	PMID:11861827
DOID:3748	esophagus squamous cell carcinoma	HGNC:2595	Homo sapiens (human)	1543	CYP1A1	inference by association of genotype from phenotype used in manual assertion	PMID:11860825
DOID:12858	Huntington's disease	HGNC:6019	Homo sapiens (human)	3570	IL6R	mutant phenotype evidence used in manual assertion	PMID:11860469
DOID:12858	Huntington's disease	HGNC:6018	Homo sapiens (human)	3569	IL6	mutant phenotype evidence used in manual assertion	PMID:11860469
DOID:2696	Leydig cell tumor	HGNC:6585	Homo sapiens (human)	3973	LHCGR	inference by association of genotype from phenotype used in manual assertion	PMID:11857565
DOID:10584	retinitis pigmentosa	HGNC:9942	Homo sapiens (human)	5961	PRPH2	inference by association of genotype from phenotype used in manual assertion	PMID:11853584 PMID:16180699 PMID:1684223 PMID:22842402 PMID:7993211 PMID:8912967 PMID:9587927
DOID:10247	pleurisy	RGD:620401	Rattus norvegicus (Norway rat)	81509	Bdkrb1	mutant phenotype evidence used in manual assertion	PMID:11853231
DOID:2749	glycogen storage disease Ia	HGNC:4056	Homo sapiens (human)	2538	G6PC1	inference by association of genotype from phenotype used in manual assertion	PMID:11851840 RGD:7240710

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