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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:0050778	Meckel syndrome	HGNC:19181	Homo sapiens (human)	9928	KIF14	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060447	epithelial basement membrane dystrophy	HGNC:11771	Homo sapiens (human)	7045	TGFBI	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:10754	otitis media	HGNC:23336	Homo sapiens (human)	144568	A2ML1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:986	alopecia areata	HGNC:6001	Homo sapiens (human)	3558	IL2	direct assay evidence used in manual assertion	PMID:3261574
DOID:0080351	CLOVES syndrome	HGNC:8975	Homo sapiens (human)	5290	PIK3CA	inference by association of genotype from phenotype used in manual assertion	PMID:22729222 RGD:7240710
DOID:0060307	autosomal dominant intellectual developmental disorder	HGNC:18410	Homo sapiens (human)	23036	ZNF292	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:13189	gout	HGNC:10931	Homo sapiens (human)	10786	SLC17A3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070023	autosomal dominant dyskeratosis congenita 6	HGNC:25070	Homo sapiens (human)	65057	ACD	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111481	combined oxidative phosphorylation deficiency 11	HGNC:21176	Homo sapiens (human)	55005	RMND1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:14330	Parkinson's disease	HGNC:7646	Homo sapiens (human)	10	NAT2	inference by association of genotype from phenotype used in manual assertion	PMID:9343502
DOID:1574	alcohol use disorder	HGNC:2689	Homo sapiens (human)	1621	DBH	inference by association of genotype from phenotype used in manual assertion	PMID:16252068
DOID:0111194	autosomal dominant adult-onset proximal spinal muscular atrophy	HGNC:12649	Homo sapiens (human)	9217	VAPB	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070204	familial partial lipodystrophy type 3	HGNC:9236	Homo sapiens (human)	5468	PPARG	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:5844	myocardial infarction	HGNC:616	Homo sapiens (human)	350	APOH	direct assay evidence used in manual assertion	PMID:15322656
DOID:9256	colorectal cancer	HGNC:1919	Homo sapiens (human)	1108	CHD4	direct assay evidence used in manual assertion	PMID:28486105
DOID:3393	coronary artery disease	HGNC:4195	Homo sapiens (human)	2645	GCK	inference by association of genotype from phenotype used in manual assertion	PMID:15173029
DOID:3526	cerebral infarction	HGNC:11784	Homo sapiens (human)	7056	THBD	inference by association of genotype from phenotype used in manual assertion	PMID:15574195
DOID:9258	Waardenburg syndrome	HGNC:6343	Homo sapiens (human)	4254	KITLG	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:10652	Alzheimer's disease	HGNC:7154	Homo sapiens (human)	4311	MME	mutant phenotype evidence used in manual assertion	PMID:25884928
DOID:0060777	congenital secretory sodium diarrhea 8	HGNC:11073	Homo sapiens (human)	6550	SLC9A3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:13810	familial hypercholesterolemia	HGNC:4263	Homo sapiens (human)	2690	GHR	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:438	autoimmune disease of the nervous system	HGNC:543	Homo sapiens (human)	308	ANXA5	direct assay evidence used in manual assertion	PMID:15486486
DOID:9970	obesity	HGNC:7940	Homo sapiens (human)	4879	NPPB	direct assay evidence used in manual assertion	PMID:21959345
DOID:8778	Crohn's disease	HGNC:6018	Homo sapiens (human)	3569	IL6	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:13774	Addison's disease	HGNC:4948	Homo sapiens (human)	3123	HLA-DRB1	inference by association of genotype from phenotype used in manual assertion	PMID:19858318 PMID:21816777

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