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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 **476 - 500** 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:12387	nephrogenic diabetes insipidus	MGI:1333777	Mus musculus (house mouse)	11828	Aqp3	author statement supported by traceable reference	PMID:10737773
DOID:3322	GM1 gangliosidosis	HGNC:4298	Homo sapiens (human)	2720	GLB1	inference by association of genotype from phenotype used in manual assertion	PMID:10737981 PMID:17309651
DOID:1612	breast cancer	HGNC:2597	Homo sapiens (human)	1545	CYP1B1	inference by association of genotype from phenotype used in manual assertion	PMID:10739169
DOID:3907	lung squamous cell carcinoma	HGNC:2597	Homo sapiens (human)	1545	CYP1B1	inference by association of genotype from phenotype used in manual assertion	PMID:10739169
DOID:1838	Menkes disease	HGNC:869	Homo sapiens (human)	538	ATP7A	inference by association of genotype from phenotype used in manual assertion	PMID:10739752 PMID:20497190 PMID:21208200 PMID:22074552 PMID:7842019 RGD:7240710
DOID:3144	cutis laxa	HGNC:869	Homo sapiens (human)	538	ATP7A	inference by association of genotype from phenotype used in manual assertion	PMID:10739752
DOID:0080911	cerebrooculofacioskeletal syndrome 1	HGNC:3438	Homo sapiens (human)	2074	ERCC6	inference by association of genotype from phenotype used in manual assertion	PMID:10739753 PMID:20456449 RGD:7240710
DOID:0111294	generalized epilepsy with febrile seizures plus 2	HGNC:10585	Homo sapiens (human)	6323	SCN1A	inference by association of genotype from phenotype used in manual assertion	PMID:10742094 RGD:7240710
DOID:0090031	D-bifunctional protein deficiency	MGI:105089	Mus musculus (house mouse)	15488	Hsd17b4	author statement supported by traceable reference	PMID:10748062 PMID:15769750
DOID:18	urinary system disease	MGI:88180	Mus musculus (house mouse)	12159	Bmp4	author statement supported by traceable reference	PMID:10749566
DOID:10763	hypertension	RGD:2536	Rattus norvegicus (Norway rat)	50672	Ednrb	mutant phenotype evidence used in manual assertion	PMID:10749572
DOID:8927	learning disability	HGNC:6000	Homo sapiens (human)	3557	IL1RN	direct assay evidence used in manual assertion	PMID:10751560
DOID:3355	fibrosarcoma	HGNC:11916	Homo sapiens (human)	7132	TNFRSF1A	mutant phenotype evidence used in manual assertion	PMID:10753499
DOID:1040	chronic lymphocytic leukemia	HGNC:1699	Homo sapiens (human)	974	CD79B	inference by association of genotype from phenotype used in manual assertion	PMID:10753858
DOID:1388	Tangier disease	MGI:99607	Mus musculus (house mouse)	11303	Abca1	author statement supported by traceable reference	PMID:10760292 PMID:10980140 PMID:15163665 PMID:15841208
DOID:1556	arthus reaction	HGNC:3616	Homo sapiens (human)	2212	FCGR2A	direct assay evidence used in manual assertion	PMID:10762218
DOID:1793	pancreatic cancer	HGNC:11785	Homo sapiens (human)	7057	THBS1	direct assay evidence used in manual assertion	PMID:10766168
DOID:0060363	glycerol kinase deficiency	WB:WBGene00020007	Caenorhabditis elegans	173747	R11F4.1	sequence orthology evidence used in manual assertion	PMID:10767309
DOID:10584	retinitis pigmentosa	HGNC:12601	Homo sapiens (human)	7399	USH2A	inference by association of genotype from phenotype used in manual assertion	PMID:10775529 PMID:20309401 PMID:20507924
DOID:13359	Ehlers-Danlos syndrome	HGNC:2209	Homo sapiens (human)	1289	COL5A1	inference by association of genotype from phenotype used in manual assertion	PMID:10777716 PMID:11278977 PMID:12145749 PMID:8752669
DOID:0110142	Bartter disease type 1	MGI:103150	Mus musculus (house mouse)	20495	Slc12a1	author statement supported by traceable reference	PMID:10779555 PMID:20219826
DOID:2717	Bloom syndrome	HGNC:1058	Homo sapiens (human)	641	BLM	inference by association of genotype from phenotype used in manual assertion	PMID:10779560 PMID:9388480 RGD:7240710
DOID:1574	alcohol use disorder	HGNC:404	Homo sapiens (human)	217	ALDH2	inference by association of genotype from phenotype used in manual assertion	PMID:10780266
DOID:12236	primary biliary cholangitis	HGNC:2505	Homo sapiens (human)	1493	CTLA4	inference by association of genotype from phenotype used in manual assertion	PMID:10782900 PMID:16584111 PMID:21594562
DOID:684	hepatocellular carcinoma	HGNC:5173	Homo sapiens (human)	3265	HRAS	mutant phenotype evidence used in manual assertion	PMID:10791191 PMID:23555816

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