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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 **151 - 175** 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:12678	hypercalcemia	HGNC:1514	Homo sapiens (human)	846	CASR	inference by association of genotype from phenotype used in manual assertion	PMID:20602573
DOID:0110943	autosomal recessive osteopetrosis 2	HGNC:11926	Homo sapiens (human)	8600	TNFSF11	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:3526	cerebral infarction	HGNC:3535	Homo sapiens (human)	2147	F2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050440	familial partial lipodystrophy	HGNC:6636	Homo sapiens (human)	4000	LMNA	inference by association of genotype from phenotype used in manual assertion	PMID:10655060
DOID:10908	hydrocephalus	MGI:1921903	Mus musculus (house mouse)	74653	Pomk	author statement supported by traceable reference	PMID:21746835
DOID:12401	intermittent explosive disorder	HGNC:2228	Homo sapiens (human)	1312	COMT	inference by association of genotype from phenotype used in manual assertion	PMID:11204347
DOID:0050709	early infantile epileptic encephalopathy	SGD:S000005662	Saccharomyces cerevisiae S288C	854303	IDH2	sequence similarity evidence used in manual assertion	PMID:28058510
DOID:520	aortic disease	HGNC:6770	Homo sapiens (human)	4089	SMAD4	inference by association of genotype from phenotype used in manual assertion	PMID:25931195
DOID:0060304	dyschromatosis universalis hereditaria	HGNC:47	Homo sapiens (human)	10058	ABCB6	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110971	brachydactyly type D	HGNC:5136	Homo sapiens (human)	3239	HOXD13	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:9256	colorectal cancer	HGNC:8033	Homo sapiens (human)	4916	NTRK3	direct assay evidence used in manual assertion	PMID:28105243 PMID:33593392
DOID:1612	breast cancer	HGNC:10850	Homo sapiens (human)	6470	SHMT1	inference by association of genotype from phenotype used in manual assertion	PMID:17896178
DOID:684	hepatocellular carcinoma	HGNC:2707	Homo sapiens (human)	1636	ACE	inference by association of genotype from phenotype used in manual assertion	PMID:25208933
DOID:5419	schizophrenia	MGI:95627	Mus musculus (house mouse)	232333	Slc6a1	author statement supported by traceable reference	PMID:23922840
DOID:0060074	ductal carcinoma in situ	HGNC:8591	Homo sapiens (human)	5062	PAK2	direct assay evidence used in manual assertion	PMID:22886747
DOID:4448	macular degeneration	HGNC:5394	Homo sapiens (human)	3426	CFI	inference by association of genotype from phenotype used in manual assertion	PMID:22815349 PMID:23685748
DOID:418	systemic scleroderma	HGNC:6709	Homo sapiens (human)	4049	LTA	inference by association of genotype from phenotype used in manual assertion	PMID:10600011
DOID:1470	major depressive disorder	HGNC:6018	Homo sapiens (human)	3569	IL6	inference by association of genotype from phenotype used in manual assertion	PMID:30734130
DOID:9256	colorectal cancer	HGNC:4944	Homo sapiens (human)	3119	HLA-DQB1	inference by association of genotype from phenotype used in manual assertion	PMID:31001878
DOID:3490	Noonan syndrome	HGNC:11187	Homo sapiens (human)	6654	SOS1	inference by association of genotype from phenotype used in manual assertion	PMID:20683980
DOID:11394	adult respiratory distress syndrome	RGD:620537	Rattus norvegicus (Norway rat)	84007	C3ar1	mutant phenotype evidence used in manual assertion	PMID:16782534
DOID:0080177	hepatic veno-occlusive disease	HGNC:4886	Homo sapiens (human)	3077	HFE	inference by association of genotype from phenotype used in manual assertion	PMID:15834437
DOID:1793	pancreatic cancer	HGNC:1100	Homo sapiens (human)	672	BRCA1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110248	cataract 30	HGNC:12692	Homo sapiens (human)	7431	VIM	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060196	amyotrophic lateral sclerosis type 4	MGI:2443480	Mus musculus (house mouse)	269254	Setx	author statement supported by traceable reference	PMID:29725819

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