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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 **13201 - 13225** 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:1682	congenital heart disease	HGNC:9906	Homo sapiens (human)	23543	RBFOX2	inference by association of genotype from phenotype used in manual assertion	PMID:26785492
DOID:0080072	intestinal pseudo-obstruction	MGI:1345138	Mus musculus (house mouse)	24064	Spry2	author statement supported by traceable reference	PMID:15937482
DOID:10652	Alzheimer's disease	HGNC:12008	Homo sapiens (human)	7166	TPH1	inference by association of genotype from phenotype used in manual assertion	PMID:15182943
DOID:0060041	autism spectrum disorder	MGI:88276	Mus musculus (house mouse)	12387	Ctnnb1	author statement supported by traceable reference	PMID:27131348
DOID:0090014	severe combined immunodeficiency 104	MGI:1345961	Mus musculus (house mouse)	12721	Coro1a	author statement supported by traceable reference	PMID:18836449
DOID:3891	placental insufficiency	HGNC:3415	Homo sapiens (human)	2056	EPO	direct assay evidence used in manual assertion	PMID:20809703
DOID:0070222	progressive familial intrahepatic cholestasis 2	HGNC:42	Homo sapiens (human)	8647	ABCB11	inference by association of genotype from phenotype used in manual assertion	PMID:20447715 PMID:23758865 RGD:7240710
DOID:0110471	autosomal recessive nonsyndromic deafness 16	HGNC:16035	Homo sapiens (human)	161497	STRC	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:10652	Alzheimer's disease	WB:WBGene00000149	Caenorhabditis elegans	180783	apl-1	combinatorial experimental and author inference evidence used in manual assertion	PMID:20862215 PMID:22466039 PMID:22836251
DOID:3908	lung non-small cell carcinoma	HGNC:11892	Homo sapiens (human)	7124	TNF	inference by association of genotype from phenotype used in manual assertion	PMID:19505916
DOID:1596	depressive disorder	RGD:620083	Rattus norvegicus (Norway rat)	641434	Atp5pd	direct assay evidence used in manual assertion	PMID:25641667
DOID:0111105	maturity-onset diabetes of the young type 8	HGNC:1848	Homo sapiens (human)	1056	CEL	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:2841	asthma	HGNC:11784	Homo sapiens (human)	7056	THBD	direct assay evidence used in manual assertion	PMID:20709825
DOID:0070423	early onset progressive encephalopathy with brain atrophy and thin corpus callosum	HGNC:11581	Homo sapiens (human)	6904	TBCD	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:9182	pemphigus	HGNC:1663	Homo sapiens (human)	948	CD36	direct assay evidence used in manual assertion	PMID:21255096
DOID:114	heart disease	HGNC:4341	Homo sapiens (human)	2752	GLUL	inference by association of genotype from phenotype used in manual assertion	PMID:26395743
DOID:9744	type 1 diabetes mellitus	HGNC:5977	Homo sapiens (human)	3600	IL15	mutant phenotype evidence used in manual assertion	PMID:17670937
DOID:3328	temporal lobe epilepsy	HGNC:6893	Homo sapiens (human)	4137	MAPT	direct assay evidence used in manual assertion	PMID:28595035
DOID:0080855	Parkinsonism	HGNC:11917	Homo sapiens (human)	7133	TNFRSF1B	direct assay evidence used in manual assertion	PMID:21831964
DOID:8778	Crohn's disease	HGNC:5962	Homo sapiens (human)	3586	IL10	direct assay evidence used in manual assertion	PMID:11113068
DOID:8725	vascular dementia	HGNC:29168	Homo sapiens (human)	23322	RPGRIP1L	inference by association of genotype from phenotype used in manual assertion	PMID:22425971
DOID:0060178	familial hemiplegic migraine	FB:FBgn0002921	Drosophila melanogaster (fruit fly)	48971	Atpα	combinatorial experimental and author inference evidence used in manual assertion	PMID:19455355
DOID:0060246	MASA syndrome	FB:FBgn0264975	Drosophila melanogaster (fruit fly)	31792	Nrg	combinatorial experimental and author inference evidence used in manual assertion	PMID:30257867
DOID:0050773	paraganglioma	HGNC:10680	Homo sapiens (human)	6389	SDHA	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110858	polycystic kidney disease 1	MGI:97603	Mus musculus (house mouse)	18763	Pkd1	author statement supported by traceable reference	MGI:5284969 PMID:11593033 PMID:11689485 PMID:12007403 PMID:12514735 PMID:15496422 PMID:15579506 PMID:17928412 PMID:18263604 PMID:18385665 PMID:20075061 PMID:20562878 PMID:21465620 PMID:23029375 PMID:23064367 PMID:23236168 PMID:23439951 PMID:28205547 PMID:9326937 PMID:9988265

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