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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 **13601 - 13625** 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: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: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:0080388	nephrotic syndrome type 7	HGNC:2852	Homo sapiens (human)	8526	DGKE	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111444	progressive myoclonus epilepsy 4	HGNC:1665	Homo sapiens (human)	950	SCARB2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111110	maturity-onset diabetes of the young type 13	HGNC:6257	Homo sapiens (human)	3767	KCNJ11	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070209	hereditary lymphedema ID	HGNC:12682	Homo sapiens (human)	7424	VEGFC	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110153	Charcot-Marie-Tooth disease type 1E	HGNC:9118	Homo sapiens (human)	5376	PMP22	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:14557	primary pulmonary hypertension	HGNC:24113	Homo sapiens (human)	79572	ATP13A3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080418	developmental and epileptic encephalopathy 54	HGNC:5048	Homo sapiens (human)	3192	HNRNPU	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110595	Stromme syndrome	HGNC:1857	Homo sapiens (human)	1063	CENPF	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0081454	Dent disease 2	HGNC:8108	Homo sapiens (human)	4952	OCRL	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080721	calvarial doughnut lesions with bone fragility	HGNC:28395	Homo sapiens (human)	166929	SGMS2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:2747	glycogen storage disease	HGNC:4699	Homo sapiens (human)	2992	GYG1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110386	retinitis pigmentosa 42	HGNC:15646	Homo sapiens (human)	55975	KLHL7	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070248	autosomal recessive Emery-Dreifuss muscular dystrophy 3	HGNC:6636	Homo sapiens (human)	4000	LMNA	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080530	granular corneal dystrophy 1	HGNC:11771	Homo sapiens (human)	7045	TGFBI	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:526	human immunodeficiency virus infectious disease	HGNC:1603	Homo sapiens (human)	729230	CCR2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080297	Coffin-Siris syndrome 6	HGNC:18037	Homo sapiens (human)	196528	ARID2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070265	congenital disorder of glycosylation type IIm	HGNC:11022	Homo sapiens (human)	7355	SLC35A2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110142	Bartter disease type 1	HGNC:10910	Homo sapiens (human)	6557	SLC12A1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110428	dilated cardiomyopathy 1AA	HGNC:164	Homo sapiens (human)	88	ACTN2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080675	Stickler syndrome 2	HGNC:2186	Homo sapiens (human)	1301	COL11A1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111233	congenital muscular dystrophy-dystroglycanopathy type A14	HGNC:22932	Homo sapiens (human)	29925	GMPPB	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111015	Newfoundland cone-rod dystrophy	HGNC:10024	Homo sapiens (human)	6017	RLBP1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:10534	stomach cancer	HGNC:6407	Homo sapiens (human)	3845	KRAS	inference by association of genotype from phenotype used in manual assertion	RGD:7240710

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