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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:12802	mucopolysaccharidosis I	HGNC:5391	Homo sapiens (human)	3425	IDUA	direct assay evidence used in manual assertion	PMID:11172140 PMID:15126990 PMID:16860035 PMID:17606547 PMID:24100243
DOID:0110671	congenital myasthenic syndrome 6	HGNC:1912	Homo sapiens (human)	1103	CHAT	inference by association of genotype from phenotype used in manual assertion	PMID:11172068 RGD:7240710
DOID:1094	attention deficit hyperactivity disorder	MGI:94862	Mus musculus (house mouse)	13162	Slc6a3	author statement supported by traceable reference	PMID:11172062 PMID:22034972 PMID:25331903 PMID:9888856
DOID:11335	sarcoidosis	HGNC:2707	Homo sapiens (human)	1636	ACE	inference by association of genotype from phenotype used in manual assertion	PMID:11168787 PMID:18496980 PMID:29229112
DOID:9538	multiple myeloma	HGNC:2505	Homo sapiens (human)	1493	CTLA4	inference by association of genotype from phenotype used in manual assertion	PMID:11167807
DOID:7442	monoclonal gammopathy of uncertain significance	HGNC:2505	Homo sapiens (human)	1493	CTLA4	inference by association of genotype from phenotype used in manual assertion	PMID:11167807
DOID:0050784	primary progressive multiple sclerosis	HGNC:6015	Homo sapiens (human)	3566	IL4R	inference by association of genotype from phenotype used in manual assertion	PMID:11164908
DOID:9074	systemic lupus erythematosus	MGI:97810	Mus musculus (house mouse)	19264	Ptprc	author statement supported by traceable reference	PMID:11163182
DOID:0050431	arrhythmogenic right ventricular cardiomyopathy	HGNC:10484	Homo sapiens (human)	6262	RYR2	inference by association of genotype from phenotype used in manual assertion	PMID:11159936 PMID:8589694
DOID:0050445	X-linked hypophosphatemic rickets	MGI:107489	Mus musculus (house mouse)	18675	Phex	author statement supported by traceable reference	PMID:11159866 PMID:12414538 PMID:15029877 PMID:15976027 PMID:17710565 PMID:22527485 PMID:22573557 PMID:29735309 PMID:9063736
DOID:9074	systemic lupus erythematosus	MGI:104669	Mus musculus (house mouse)	17158	Man2a1	author statement supported by traceable reference	PMID:11158608
DOID:8432	polycythemia	HGNC:3416	Homo sapiens (human)	2057	EPOR	mutant phenotype evidence used in manual assertion	PMID:11158582
DOID:2921	glomerulonephritis	RGD:1359152	Rattus norvegicus (Norway rat)	287561	Ccl7	direct assay evidence used in manual assertion	PMID:11157384
DOID:2988	antiphospholipid syndrome	HGNC:4948	Homo sapiens (human)	3123	HLA-DRB1	inference by association of genotype from phenotype used in manual assertion	PMID:11157139
DOID:2988	antiphospholipid syndrome	HGNC:4942	Homo sapiens (human)	3117	HLA-DQA1	inference by association of genotype from phenotype used in manual assertion	PMID:11157139
DOID:2988	antiphospholipid syndrome	HGNC:4944	Homo sapiens (human)	3119	HLA-DQB1	inference by association of genotype from phenotype used in manual assertion	PMID:11157139
DOID:6419	tetralogy of Fallot	HGNC:6188	Homo sapiens (human)	182	JAG1	inference by association of genotype from phenotype used in manual assertion	PMID:11152664 RGD:7240710
DOID:3627	aortic aneurysm	MGI:99400	Mus musculus (house mouse)	11977	Atp7a	author statement supported by traceable reference	PMID:1115218 PMID:3385878
DOID:4483	rhinitis	HGNC:1030	Homo sapiens (human)	624	BDKRB2	mutant phenotype evidence used in manual assertion	PMID:11149999
DOID:9744	type 1 diabetes mellitus	HGNC:3544	Homo sapiens (human)	2155	F7	direct assay evidence used in manual assertion	PMID:11146704
DOID:627	severe combined immunodeficiency	HGNC:9666	Homo sapiens (human)	5788	PTPRC	inference by association of genotype from phenotype used in manual assertion	PMID:11145714
DOID:9744	type 1 diabetes mellitus	HGNC:6709	Homo sapiens (human)	4049	LTA	mutant phenotype evidence used in manual assertion	PMID:11141334
DOID:12930	dilated cardiomyopathy	HGNC:16932	Homo sapiens (human)	10529	NEBL	inference by association of genotype from phenotype used in manual assertion	PMID:11140941
DOID:0110831	Usher syndrome type 1D	MGI:1890219	Mus musculus (house mouse)	22295	Cdh23	author statement supported by traceable reference	PMID:11138008 PMID:21689626
DOID:10003	sensorineural hearing loss	HGNC:11877	Homo sapiens (human)	64699	TMPRSS3	inference by association of genotype from phenotype used in manual assertion	PMID:11137999

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