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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 **13501 - 13525** 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:9245	Alagille syndrome	MGI:1095416	Mus musculus (house mouse)	16449	Jag1	author statement supported by traceable reference	PMID:11259677 PMID:21062863 PMID:22156581 PMID:23095891 PMID:29162437
DOID:809	cocaine abuse	RGD:61800	Rattus norvegicus (Norway rat)	29595	Htr2a	mutant phenotype evidence used in manual assertion	PMID:11259563 PMID:20814782
DOID:6432	pulmonary hypertension	RGD:3714	Rattus norvegicus (Norway rat)	25553	Slc6a4	direct assay evidence used in manual assertion	PMID:11259539 PMID:19473340
DOID:10763	hypertension	HGNC:800	Homo sapiens (human)	477	ATP1A2	inference by association of genotype from phenotype used in manual assertion	PMID:11257061
DOID:2231	factor XII deficiency	HGNC:3530	Homo sapiens (human)	2161	F12	inference by association of genotype from phenotype used in manual assertion	PMID:11248286 PMID:18024408 PMID:20386432 PMID:2510163 RGD:7240710
DOID:1793	pancreatic cancer	HGNC:172	Homo sapiens (human)	91	ACVR1B	inference by association of genotype from phenotype used in manual assertion	PMID:11248065 RGD:7240710
DOID:3457	invasive lobular carcinoma	HGNC:1681	Homo sapiens (human)	960	CD44	direct assay evidence used in manual assertion	PMID:11245336
DOID:13166	allergic bronchopulmonary aspergillosis	HGNC:1884	Homo sapiens (human)	1080	CFTR	inference by association of genotype from phenotype used in manual assertion	PMID:11243954
DOID:1206	Rett syndrome	MGI:99918	Mus musculus (house mouse)	17257	Mecp2	author statement supported by traceable reference	PMID:11242117 PMID:11242118 PMID:12160743 PMID:16446138 PMID:17289941 PMID:18321864 PMID:18557922 PMID:20163734 PMID:20633611 PMID:22119903 PMID:22302819 PMID:23452848 PMID:23770565 PMID:23770587 PMID:24283265 PMID:24352790 PMID:24735673 PMID:25634563 PMID:26647311 PMID:28159985 PMID:30402709 PMID:32469049
DOID:11198	DiGeorge syndrome	MGI:104686	Mus musculus (house mouse)	12929	Crkl	author statement supported by traceable reference	PMID:11242111
DOID:12583	velocardiofacial syndrome	MGI:104686	Mus musculus (house mouse)	12929	Crkl	author statement supported by traceable reference	PMID:11242111
DOID:1927	sphingolipidosis	HGNC:735	Homo sapiens (human)	427	ASAH1	inference by association of genotype from phenotype used in manual assertion	PMID:11241842
DOID:9744	type 1 diabetes mellitus	HGNC:4187	Homo sapiens (human)	2638	GC	inference by association of genotype from phenotype used in manual assertion	PMID:11239517
DOID:13636	Fanconi anemia	HGNC:3585	Homo sapiens (human)	2177	FANCD2	inference by association of genotype from phenotype used in manual assertion	PMID:11239453
DOID:0050700	cardiomyopathy	HGNC:3057	Homo sapiens (human)	1837	DTNA	inference by association of genotype from phenotype used in manual assertion	PMID:11238270
DOID:5082	liver cirrhosis	HGNC:11050	Homo sapiens (human)	6532	SLC6A4	inference by association of genotype from phenotype used in manual assertion	PMID:11236836
DOID:0050628	advanced sleep phase syndrome	HGNC:8846	Homo sapiens (human)	8864	PER2	inference by association of genotype from phenotype used in manual assertion	PMID:11232563
DOID:2842	Jervell-Lange Nielsen syndrome	MGI:108083	Mus musculus (house mouse)	16535	Kcnq1	author statement supported by traceable reference	PMID:11226272 PMID:15498462 PMID:15891643
DOID:3393	coronary artery disease	HGNC:5261	Homo sapiens (human)	3329	HSPD1	direct assay evidence used in manual assertion	PMID:11222468
DOID:12029	sympathetic ophthalmia	HGNC:4948	Homo sapiens (human)	3123	HLA-DRB1	inference by association of genotype from phenotype used in manual assertion	PMID:11222331 PMID:9062965
DOID:11984	hypertrophic cardiomyopathy	HGNC:7708	Homo sapiens (human)	4720	NDUFS2	inference by association of genotype from phenotype used in manual assertion	PMID:11220739
DOID:655	inherited metabolic disorder	HGNC:7708	Homo sapiens (human)	4720	NDUFS2	inference by association of genotype from phenotype used in manual assertion	PMID:11220739
DOID:1206	Rett syndrome	HGNC:6990	Homo sapiens (human)	4204	MECP2	inference by association of genotype from phenotype used in manual assertion	PMID:11214906 PMID:16183801 RGD:7240710
DOID:12930	dilated cardiomyopathy	MGI:104879	Mus musculus (house mouse)	18566	Pdcd1	author statement supported by traceable reference	PMID:11209085
DOID:14452	hypokalemic periodic paralysis	HGNC:6243	Homo sapiens (human)	10008	KCNE3	inference by association of genotype from phenotype used in manual assertion	PMID:11207363

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