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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:11119	Gilles de la Tourette syndrome	MGI:2679446	Mus musculus (house mouse)	76965	Slitrk1	author statement supported by traceable reference	PMID:18794888
DOID:3119	gastrointestinal system cancer	HGNC:6770	Homo sapiens (human)	4089	SMAD4	inference by association of genotype from phenotype used in manual assertion	PMID:25389115
DOID:856	biotinidase deficiency	HGNC:1122	Homo sapiens (human)	686	BTD	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:612	primary immunodeficiency disease	HGNC:3573	Homo sapiens (human)	8772	FADD	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050535	exudative vitreoretinopathy	MGI:105057	Mus musculus (house mouse)	12562	Cdh5	author statement supported by traceable reference	PMID:33497368
DOID:1920	hyperuricemia	MGI:1347061	Mus musculus (house mouse)	26357	Abcg2	author statement supported by traceable reference	PMID:22473008 PMID:32488095
DOID:0110861	autosomal recessive polycystic kidney disease	MGI:97603	Mus musculus (house mouse)	18763	Pkd1	author statement supported by traceable reference	PMID:11818962 PMID:20053665
DOID:9256	colorectal cancer	HGNC:6407	Homo sapiens (human)	3845	KRAS	inference by association of genotype from phenotype used in manual assertion	PMID:22971512
DOID:0050742	nicotine dependence	HGNC:9201	Homo sapiens (human)	5443	POMC	direct assay evidence used in manual assertion	PMID:29871818
DOID:1586	rheumatic fever	HGNC:4944	Homo sapiens (human)	3119	HLA-DQB1	inference by association of genotype from phenotype used in manual assertion	PMID:17559688
DOID:0112091	nuclear type mitochondrial complex I deficiency 34	HGNC:33551	Homo sapiens (human)	284184	NDUFAF8	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:4450	renal cell carcinoma	HGNC:1324	Homo sapiens (human)	721	C4B	inference by association of genotype from phenotype used in manual assertion	PMID:19150565
DOID:2986	IgA glomerulonephritis	HGNC:244	Homo sapiens (human)	119	ADD2	inference by association of genotype from phenotype used in manual assertion	PMID:19838659
DOID:305	carcinoma	FB:FBgn0263289	Drosophila melanogaster (fruit fly)	44448	scrib	combinatorial experimental and author inference evidence used in manual assertion	PMID:10884224 PMID:14592975 PMID:16150723 PMID:19289090 PMID:26302329 PMID:29360576 PMID:29804808 PMID:30683884 PMID:30770795 PMID:31358113 PMID:33919765 PMID:34017079 PMID:34349099 PMID:35050535 PMID:35420935 PMID:35732124 PMID:35933447 PMID:37035004 PMID:37924514
DOID:3121	gallbladder cancer	HGNC:613	Homo sapiens (human)	348	APOE	inference by association of genotype from phenotype used in manual assertion	PMID:18296645
DOID:445	Bartter disease	HGNC:10910	Homo sapiens (human)	6557	SLC12A1	inference by association of genotype from phenotype used in manual assertion	PMID:8640224
DOID:0090141	cortisone reductase deficiency 1	HGNC:4795	Homo sapiens (human)	9563	H6PD	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050770	polycystic liver disease	HGNC:4138	Homo sapiens (human)	23193	GANAB	inference by association of genotype from phenotype used in manual assertion	PMID:27259053 PMID:31462075
DOID:2920	membranoproliferative glomerulonephritis	HGNC:3778	Homo sapiens (human)	2335	FN1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111424	branchiootorenal syndrome 2	HGNC:10891	Homo sapiens (human)	147912	SIX5	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050949	autosomal recessive hypophosphatemic rickets	MGI:94910	Mus musculus (house mouse)	13406	Dmp1	author statement supported by traceable reference	PMID:21542006
DOID:4989	pancreatitis	RGD:3371	Rattus norvegicus (Norway rat)	25664	Pparg	mutant phenotype evidence used in manual assertion	PMID:18583255
DOID:0110352	retinitis pigmentosa 59	HGNC:20603	Homo sapiens (human)	79947	DHDDS	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:13359	Ehlers-Danlos syndrome	MGI:99907	Mus musculus (house mouse)	18822	Plod1	author statement supported by traceable reference	PMID:17197443
DOID:0060768	Smith-Magenis syndrome	HGNC:9834	Homo sapiens (human)	10743	RAI1	inference by association of genotype from phenotype used in manual assertion	PMID:12652298 RGD:7240710

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