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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:0112170	Noonan syndrome 12	HGNC:17271	Homo sapiens (human)	22800	RRAS2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050563	nonsyndromic deafness	MGI:1328355	Mus musculus (house mouse)	22393	Wfs1	author statement supported by traceable reference	PMID:37386014
DOID:684	hepatocellular carcinoma	HGNC:6553	Homo sapiens (human)	3952	LEP	inference by association of genotype from phenotype used in manual assertion	PMID:28452232
DOID:0050854	Muckle-Wells syndrome	HGNC:6000	Homo sapiens (human)	3557	IL1RN	direct assay evidence used in manual assertion	PMID:22146561
DOID:684	hepatocellular carcinoma	HGNC:4942	Homo sapiens (human)	3117	HLA-DQA1	inference by association of genotype from phenotype used in manual assertion	PMID:24204805 PMID:30160782
DOID:3070	high grade glioma	RGD:2149	Rattus norvegicus (Norway rat)	29183	Areg	mutant phenotype evidence used in manual assertion	PMID:8621257
DOID:10487	Hirschsprung's disease	MGI:1100842	Mus musculus (house mouse)	14585	Gfra1	author statement supported by traceable reference	PMID:17507417 PMID:9728913
DOID:1205	allergic disease	HGNC:17451	Homo sapiens (human)	10800	CYSLTR1	inference by association of genotype from phenotype used in manual assertion	PMID:16776674
DOID:0080074	neural tube defect	MGI:1298218	Mus musculus (house mouse)	16974	Lrp6	author statement supported by traceable reference	PMID:10545599 PMID:16126904
DOID:14330	Parkinson's disease	RGD:70982	Rattus norvegicus (Norway rat)	84027	Gsk3b	direct assay evidence used in manual assertion	PMID:23094836
DOID:4440	seminoma	HGNC:12828	Homo sapiens (human)	7515	XRCC1	inference by association of genotype from phenotype used in manual assertion	PMID:16596238
DOID:557	kidney disease	MGI:102674	Mus musculus (house mouse)	22242	Umod	author statement supported by traceable reference	PMID:19692485 PMID:20472742 PMID:23748428 PMID:28990932
DOID:12799	mucopolysaccharidosis II	MGI:96417	Mus musculus (house mouse)	15931	Ids	author statement supported by traceable reference	PMID:12572850 PMID:16505002 PMID:17876721 PMID:20652491 PMID:22704483 PMID:22847837
DOID:1064	cystinosis	WB:WBGene00008052	Caenorhabditis elegans	174308	ctns-1	mutant phenotype evidence used in manual assertion	PMID:22822152
DOID:0070347	encephalopathy due to defective mitochondrial and peroxisomal fission 1	HGNC:2973	Homo sapiens (human)	10059	DNM1L	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:14018	alcoholic liver cirrhosis	HGNC:11180	Homo sapiens (human)	6648	SOD2	inference by association of genotype from phenotype used in manual assertion	PMID:26873981
DOID:9256	colorectal cancer	HGNC:11772	Homo sapiens (human)	7046	TGFBR1	inference by association of genotype from phenotype used in manual assertion	PMID:24880985
DOID:0112275	developmental and epileptic encephalopathy 93	HGNC:851	Homo sapiens (human)	523	ATP6V1A	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070093	schizophrenia 18	HGNC:10939	Homo sapiens (human)	6505	SLC1A1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050827	rheumatic heart disease	HGNC:4948	Homo sapiens (human)	3123	HLA-DRB1	inference by association of genotype from phenotype used in manual assertion	PMID:16426242 PMID:17578051
DOID:11758	iron deficiency anemia	HGNC:11892	Homo sapiens (human)	7124	TNF	inference by association of genotype from phenotype used in manual assertion	PMID:18716131
DOID:0050144	Kartagener syndrome	HGNC:2950	Homo sapiens (human)	1767	DNAH5	inference by association of genotype from phenotype used in manual assertion	PMID:11788826
DOID:4914	esophagus adenocarcinoma	HGNC:7160	Homo sapiens (human)	4323	MMP14	inference by association of genotype from phenotype used in manual assertion	PMID:21472143
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2	HGNC:17978	Homo sapiens (human)	126792	B3GALT6	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:2986	IgA glomerulonephritis	HGNC:3608	Homo sapiens (human)	2204	FCAR	mutant phenotype evidence used in manual assertion	PMID:21985370

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