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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:0060189	ileitis	HGNC:8941	Homo sapiens (human)	5265	SERPINA1	direct assay evidence used in manual assertion	PMID:23835442
DOID:10652	Alzheimer's disease	HGNC:7876	Homo sapiens (human)	4846	NOS3	mutant phenotype evidence used in manual assertion	PMID:17413318
DOID:0070004	myeloid neoplasm	HGNC:3498	Homo sapiens (human)	2122	MECOM	inference by association of genotype from phenotype used in manual assertion	PMID:9044825
DOID:10652	Alzheimer's disease	HGNC:17091	Homo sapiens (human)	23385	NCSTN	mutant phenotype evidence used in manual assertion	PMID:23595812
DOID:9744	type 1 diabetes mellitus	HGNC:6182	Homo sapiens (human)	3710	ITPR3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:8692	myeloid leukemia	HGNC:12767	Homo sapiens (human)	54904	NSD3	inference by association of genotype from phenotype used in manual assertion	PMID:11986249
DOID:8354	complement component 3 deficiency	HGNC:1318	Homo sapiens (human)	718	C3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111948	immunodeficiency 46	HGNC:11763	Homo sapiens (human)	7037	TFRC	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:2030	anxiety disorder	HGNC:3023	Homo sapiens (human)	1813	DRD2	inference by association of genotype from phenotype used in manual assertion	PMID:9513185
DOID:10534	stomach cancer	HGNC:25941	Homo sapiens (human)	54790	TET2	mutant phenotype evidence used in manual assertion	PMID:31242038
DOID:12206	dengue hemorrhagic fever	HGNC:1641	Homo sapiens (human)	30835	CD209	inference by association of genotype from phenotype used in manual assertion	PMID:15838506 PMID:21245921
DOID:10652	Alzheimer's disease	HGNC:9707	Homo sapiens (human)	5819	NECTIN2	inference by association of genotype from phenotype used in manual assertion	PMID:22159054
DOID:2043	hepatitis B	HGNC:5433	Homo sapiens (human)	3455	IFNAR2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110646	long QT syndrome 3	HGNC:10593	Homo sapiens (human)	6331	SCN5A	inference by association of genotype from phenotype used in manual assertion	PMID:30566038 RGD:7240710
DOID:0050328	congenital hypothyroidism	HGNC:12015	Homo sapiens (human)	7173	TPO	inference by association of genotype from phenotype used in manual assertion	PMID:7550241
DOID:0110383	retinitis pigmentosa 7	HGNC:10254	Homo sapiens (human)	6094	ROM1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:3008	invasive ductal carcinoma	HGNC:12828	Homo sapiens (human)	7515	XRCC1	inference by association of genotype from phenotype used in manual assertion	PMID:18752184
DOID:0080597	Kleefstra syndrome	HGNC:24650	Homo sapiens (human)	79813	EHMT1	inference by association of genotype from phenotype used in manual assertion	PMID:21910222
DOID:684	hepatocellular carcinoma	HGNC:12828	Homo sapiens (human)	7515	XRCC1	inference by association of genotype from phenotype used in manual assertion	PMID:14519756 PMID:19194663 PMID:22502666 PMID:23454624 PMID:23493666 PMID:23534753 PMID:23984316 PMID:24446299 PMID:24526467 PMID:24570146 PMID:24634229 PMID:26918371 PMID:28058700 PMID:28927037 PMID:29682247 PMID:29935355 PMID:32334466
DOID:999	hypereosinophilic syndrome	HGNC:8803	Homo sapiens (human)	5156	PDGFRA	inference by association of genotype from phenotype used in manual assertion	PMID:12660384 RGD:7240710
DOID:2559	opiate dependence	HGNC:40	Homo sapiens (human)	5243	ABCB1	inference by association of genotype from phenotype used in manual assertion	PMID:17178268 PMID:24086514 PMID:24950410 PMID:27061230
DOID:0070072	autosomal dominant intellectual developmental disorder 42	HGNC:4396	Homo sapiens (human)	2782	GNB1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060731	congenital central hypoventilation syndrome	HGNC:1033	Homo sapiens (human)	627	BDNF	inference by association of genotype from phenotype used in manual assertion	PMID:11840487
DOID:4450	renal cell carcinoma	HGNC:18081	Homo sapiens (human)	11197	WIF1	direct assay evidence used in manual assertion	PMID:17145819
DOID:8552	chronic myeloid leukemia	HGNC:11936	Homo sapiens (human)	356	FASLG	inference by association of genotype from phenotype used in manual assertion	PMID:26563376

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