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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

Displaying entries **1 - 25** of **14279** in total

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Disease ID	Disease Name ▲	Alliance of Genome Resources ID	Species	Gene ID	Gene Symbol	Evidence	References
DOID:0112248	17-beta hydroxysteroid dehydrogenase 3 deficiency	HGNC:5212	Homo sapiens (human)	3293	HSD17B3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria	MGI:2445096	Mus musculus (house mouse)	209692	Dhtkd1	author statement supported by traceable reference	PMID:28545977
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria	HGNC:23537	Homo sapiens (human)	55526	DHTKD1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050573	2-hydroxyglutaric aciduria	HGNC:20499	Homo sapiens (human)	79944	L2HGDH	inference by association of genotype from phenotype used in manual assertion	PMID:24894778 PMID:26208971
DOID:0060241	3-M syndrome	HGNC:21024	Homo sapiens (human)	9820	CUL7	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060241	3-M syndrome	HGNC:29092	Homo sapiens (human)	23363	OBSL1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070541	3-hydroxy-3-methylglutaryl-CoA lyase deficiency	HGNC:5005	Homo sapiens (human)	3155	HMGCL	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060949	3-hydroxyisobutryl-CoA hydrolase deficiency	HGNC:4908	Homo sapiens (human)	26275	HIBCH	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080579	3-methylcrotonyl-CoA carboxylase 1 deficiency	HGNC:6936	Homo sapiens (human)	56922	MCCC1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110004	3-methylglutaconic aciduria type 3	HGNC:8142	Homo sapiens (human)	80207	OPA3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060575	3MC syndrome 1	HGNC:6901	Homo sapiens (human)	5648	MASP1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060576	3MC syndrome 2	HGNC:17213	Homo sapiens (human)	78989	COLEC11	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060577	3MC syndrome 3	HGNC:2220	Homo sapiens (human)	10584	COLEC10	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:14450	46 XX gonadal dysgenesis	HGNC:3969	Homo sapiens (human)	2492	FSHR	inference by association of genotype from phenotype used in manual assertion	PMID:7553856
DOID:0080943	46,XX sex reversal 5	HGNC:7976	Homo sapiens (human)	7026	NR2F2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:14448	46,XY complete gonadal dysgenesis	HGNC:17210	Homo sapiens (human)	57647	DHX37	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111777	46,XY sex reversal 2	HGNC:7960	Homo sapiens (human)	190	NR0B1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111776	46,XY sex reversal 5	HGNC:1552	Homo sapiens (human)	84733	CBX2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111769	46,XY sex reversal 6	HGNC:6848	Homo sapiens (human)	4214	MAP3K1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111773	46,XY sex reversal 8	HGNC:387	Homo sapiens (human)	1109	AKR1C4	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111773	46,XY sex reversal 8	HGNC:385	Homo sapiens (human)	1646	AKR1C2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050600	ABCD syndrome	HGNC:3180	Homo sapiens (human)	1910	EDNRB	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111623	ACTH-independent macronodular adrenal hyperplasia 1	HGNC:4392	Homo sapiens (human)	2778	GNAS	inference by association of genotype from phenotype used in manual assertion	PMID:12727968 RGD:7240710
DOID:7004	ACTH-secreting pituitary adenoma	HGNC:12631	Homo sapiens (human)	9101	USP8	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080952	AMED syndrome	HGNC:253	Homo sapiens (human)	128	ADH5	inference by association of genotype from phenotype used in manual assertion	RGD:7240710

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