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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:0070243	primary coenzyme Q10 deficiency 6	HGNC:20233	Homo sapiens (human)	51004	COQ6	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060251	sclerosteosis	HGNC:13771	Homo sapiens (human)	50964	SOST	inference by association of genotype from phenotype used in manual assertion	PMID:11179006
DOID:0080807	autosomal dominant craniodiaphyseal dysplasia	HGNC:13771	Homo sapiens (human)	50964	SOST	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060756	sclerosteosis 1	HGNC:13771	Homo sapiens (human)	50964	SOST	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070547	primary pigmented nodular adrenocortical disease 2	HGNC:8773	Homo sapiens (human)	50940	PDE11A	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110371	retinitis pigmentosa 56	HGNC:18362	Homo sapiens (human)	50939	IMPG2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050661	vitelliform macular dystrophy	HGNC:18362	Homo sapiens (human)	50939	IMPG2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110877	holoprosencephaly 11	HGNC:17104	Homo sapiens (human)	50937	CDON	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:2986	IgA glomerulonephritis	MGI:1355317	Mus musculus (house mouse)	50930	Tnfsf14	author statement supported by traceable reference	PMID:15067315
DOID:3382	liposarcoma	MGI:1355307	Mus musculus (house mouse)	50929	Il22	author statement supported by traceable reference	PMID:21897855
DOID:12804	mucopolysaccharidosis IV	MGI:1355303	Mus musculus (house mouse)	50917	Galns	author statement supported by traceable reference	PMID:14583446
DOID:10763	hypertension	HGNC:14685	Homo sapiens (human)	50848	F11R	inference by association of genotype from phenotype used in manual assertion	PMID:18067551
DOID:0050741	alcohol dependence	HGNC:14921	Homo sapiens (human)	50833	TAS2R16	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111822	CHILD syndrome	HGNC:13398	Homo sapiens (human)	50814	NSDHL	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111898	CK syndrome	HGNC:13398	Homo sapiens (human)	50814	NSDHL	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111030	hemochromatosis type 3	MGI:1354956	Mus musculus (house mouse)	50765	Tfr2	author statement supported by traceable reference	PMID:12134060 PMID:20179178
DOID:3911	progeria	MGI:1354161	Mus musculus (house mouse)	50721	Sirt6	author statement supported by traceable reference	PMID:16439206
DOID:0050946	Charlevoix-Saguenay spastic ataxia	MGI:1354724	Mus musculus (house mouse)	50720	Sacs	author statement supported by traceable reference	PMID:22307627 PMID:25260547
DOID:1474	aggressive periodontitis	MGI:1926321	Mus musculus (house mouse)	50706	Postn	author statement supported by traceable reference	PMID:16314533
DOID:0080010	bone structure disease	MGI:1926321	Mus musculus (house mouse)	50706	Postn	author statement supported by traceable reference	PMID:23505553
DOID:10908	hydrocephalus	RGD:619777	Rattus norvegicus (Norway rat)	50687	L1cam	mutant phenotype evidence used in manual assertion	PMID:30738385
DOID:614	lymphopenia	RGD:2536	Rattus norvegicus (Norway rat)	50672	Ednrb	inference by association of genotype from phenotype used in manual assertion	PMID:22975636
DOID:10487	Hirschsprung's disease	RGD:2536	Rattus norvegicus (Norway rat)	50672	Ednrb	mutant phenotype evidence used in manual assertion	PMID:9739043
DOID:10763	hypertension	RGD:2536	Rattus norvegicus (Norway rat)	50672	Ednrb	mutant phenotype evidence used in manual assertion	PMID:10749572
DOID:9352	type 2 diabetes mellitus	RGD:2536	Rattus norvegicus (Norway rat)	50672	Ednrb	direct assay evidence used in manual assertion	PMID:19286964

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