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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:5419	schizophrenia	HGNC:11892	Homo sapiens (human)	7124	TNF	inference by association of genotype from phenotype used in manual assertion	PMID:15927374
DOID:4448	macular degeneration	HGNC:11850	Homo sapiens (human)	7099	TLR4	inference by association of genotype from phenotype used in manual assertion	PMID:15829498
DOID:0081015	congenital fibrosis of the extraocular muscles 1	HGNC:19349	Homo sapiens (human)	55605	KIF21A	inference by association of genotype from phenotype used in manual assertion	PMID:14595441 RGD:7240710
DOID:13270	erythropoietic protoporphyria	HGNC:2088	Homo sapiens (human)	10845	CLPX	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:8618	oral cavity cancer	HGNC:2595	Homo sapiens (human)	1543	CYP1A1	inference by association of genotype from phenotype used in manual assertion	PMID:17461521
DOID:11984	hypertrophic cardiomyopathy	HGNC:6501	Homo sapiens (human)	3920	LAMP2	inference by association of genotype from phenotype used in manual assertion	PMID:15673802 PMID:16144992
DOID:5425	ovarian hyperstimulation syndrome	RGD:619991	Rattus norvegicus (Norway rat)	83785	Vegfa	mutant phenotype evidence used in manual assertion	PMID:25151950
DOID:9352	type 2 diabetes mellitus	HGNC:13916	Homo sapiens (human)	55937	APOM	inference by association of genotype from phenotype used in manual assertion	PMID:16572495
DOID:0050450	Gitelman syndrome	HGNC:2027	Homo sapiens (human)	1188	CLCNKB	inference by association of genotype from phenotype used in manual assertion	PMID:11102542
DOID:7148	rheumatoid arthritis	HGNC:1515	Homo sapiens (human)	831	CAST	direct assay evidence used in manual assertion	PMID:7706496
DOID:13481	thanatophoric dysplasia	MGI:96257	Mus musculus (house mouse)	15530	Hspg2	author statement supported by traceable reference	PMID:10545953
DOID:9663	aphthous stomatitis	HGNC:5962	Homo sapiens (human)	3586	IL10	inference by association of genotype from phenotype used in manual assertion	PMID:27266194
DOID:0111731	familial episodic pain syndrome 3	HGNC:10583	Homo sapiens (human)	11280	SCN11A	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:12117	pulmonary alveolar microlithiasis	HGNC:11020	Homo sapiens (human)	10568	SLC34A2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:9409	diabetes insipidus	RGD:2142	Rattus norvegicus (Norway rat)	25386	Aqp2	inference by association of genotype from phenotype used in manual assertion	PMID:10919858
DOID:10763	hypertension	RGD:621862	Rattus norvegicus (Norway rat)	81647	Atf2	direct assay evidence used in manual assertion	PMID:11358932
DOID:216	dental caries	HGNC:20893	Homo sapiens (human)	54880	BCOR	inference by association of genotype from phenotype used in manual assertion	PMID:23470693
DOID:783	end stage renal disease	HGNC:286	Homo sapiens (human)	154	ADRB2	direct assay evidence used in manual assertion	PMID:9730702
DOID:1936	atherosclerosis	HGNC:9206	Homo sapiens (human)	5446	PON3	direct assay evidence used in manual assertion	PMID:20182519
DOID:12387	nephrogenic diabetes insipidus	RGD:68936	Rattus norvegicus (Norway rat)	84484	Slc4a4	direct assay evidence used in manual assertion	PMID:12944321
DOID:13714	anodontia	HGNC:7176	Homo sapiens (human)	4318	MMP9	inference by association of genotype from phenotype used in manual assertion	PMID:24351915
DOID:0111028	hemochromatosis type 4	MGI:1315204	Mus musculus (house mouse)	53945	Slc40a1	author statement supported by traceable reference	PMID:17289807 PMID:25100063
DOID:684	hepatocellular carcinoma	HGNC:2621	Homo sapiens (human)	1557	CYP2C19	inference by association of genotype from phenotype used in manual assertion	PMID:11021356
DOID:0110861	autosomal recessive polycystic kidney disease	MGI:1929699	Mus musculus (house mouse)	56350	Arl3	author statement supported by traceable reference	PMID:16565502
DOID:5723	optic atrophy	HGNC:19691	Homo sapiens (human)	51102	MECR	inference by association of genotype from phenotype used in manual assertion	RGD:7240710

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