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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:10247	pleurisy	RGD:3644	Rattus norvegicus (Norway rat)	29397	Ccl11	mutant phenotype evidence used in manual assertion	PMID:11564646
DOID:0080160	Cytomegalovirus retinitis	HGNC:4932	Homo sapiens (human)	3106	HLA-B	inference by association of genotype from phenotype used in manual assertion	PMID:11564593
DOID:2216	factor V deficiency	HGNC:3542	Homo sapiens (human)	2153	F5	inference by association of genotype from phenotype used in manual assertion	PMID:11564077 RGD:7240710
DOID:9074	systemic lupus erythematosus	HGNC:6922	Homo sapiens (human)	4153	MBL2	inference by association of genotype from phenotype used in manual assertion	PMID:11561111 PMID:21510992
DOID:3070	high grade glioma	RGD:3676	Rattus norvegicus (Norway rat)	25197	St6gal1	direct assay evidence used in manual assertion	PMID:11559557
DOID:0110939	autosomal recessive osteopetrosis 5	MGI:2655574	Mus musculus (house mouse)	14628	Ostm1	author statement supported by traceable reference	PMID:1155801
DOID:12894	Sjogren's syndrome	HGNC:4948	Homo sapiens (human)	3123	HLA-DRB1	inference by association of genotype from phenotype used in manual assertion	PMID:11555411
DOID:12894	Sjogren's syndrome	HGNC:4942	Homo sapiens (human)	3117	HLA-DQA1	inference by association of genotype from phenotype used in manual assertion	PMID:11555411 PMID:21315052
DOID:13399	color blindness	HGNC:2150	Homo sapiens (human)	1261	CNGA3	inference by association of genotype from phenotype used in manual assertion	PMID:11536077
DOID:0050787	juvenile polyposis syndrome	HGNC:1076	Homo sapiens (human)	657	BMPR1A	inference by association of genotype from phenotype used in manual assertion	PMID:11536076 RGD:7240710
DOID:12842	Guillain-Barre syndrome	MGI:101773	Mus musculus (house mouse)	12524	Cd86	author statement supported by traceable reference	PMID:11535635 PMID:19050296
DOID:0110646	long QT syndrome 3	MGI:98251	Mus musculus (house mouse)	20271	Scn5a	author statement supported by traceable reference	PMID:11533705 PMID:17145985 PMID:22287583 PMID:30144447
DOID:0050454	periventricular nodular heterotopia	HGNC:3754	Homo sapiens (human)	2316	FLNA	inference by association of genotype from phenotype used in manual assertion	PMID:11532987 PMID:23873601 PMID:9883725 RGD:7240710
DOID:9352	type 2 diabetes mellitus	HGNC:14565	Homo sapiens (human)	10580	SORBS1	inference by association of genotype from phenotype used in manual assertion	PMID:11532984
DOID:9970	obesity	HGNC:14565	Homo sapiens (human)	10580	SORBS1	inference by association of genotype from phenotype used in manual assertion	PMID:11532984
DOID:0111064	autosomal recessive distal hereditary motor neuronopathy 1	HGNC:5542	Homo sapiens (human)	3508	IGHMBP2	inference by association of genotype from phenotype used in manual assertion	PMID:11528396 RGD:7240710
DOID:0050678	Blau syndrome	HGNC:5331	Homo sapiens (human)	64127	NOD2	inference by association of genotype from phenotype used in manual assertion	PMID:11528384 PMID:15812565 PMID:19116920 PMID:19479837 RGD:7240710
DOID:0110633	rigid spine muscular dystrophy 1	HGNC:15999	Homo sapiens (human)	57190	SELENON	inference by association of genotype from phenotype used in manual assertion	PMID:11528383 RGD:7240710
DOID:3083	chronic obstructive pulmonary disease	HGNC:285	Homo sapiens (human)	153	ADRB1	mutant phenotype evidence used in manual assertion	PMID:11527135
DOID:3083	chronic obstructive pulmonary disease	HGNC:286	Homo sapiens (human)	154	ADRB2	mutant phenotype evidence used in manual assertion	PMID:11527135
DOID:10825	essential hypertension	HGNC:9958	Homo sapiens (human)	5972	REN	direct assay evidence used in manual assertion	PMID:1152295
DOID:10652	Alzheimer's disease	HGNC:6893	Homo sapiens (human)	4137	MAPT	mutant phenotype evidence used in manual assertion	PMID:11520987 PMID:19252918
DOID:10652	Alzheimer's disease	HGNC:620	Homo sapiens (human)	351	APP	mutant phenotype evidence used in manual assertion	PMID:11520987 PMID:17506994 PMID:29641600
DOID:3146	lipid metabolism disorder	HGNC:2859	Homo sapiens (human)	1718	DHCR24	inference by association of genotype from phenotype used in manual assertion	PMID:11519011
DOID:2841	asthma	HGNC:1030	Homo sapiens (human)	624	BDKRB2	inference by association of genotype from phenotype used in manual assertion	PMID:11517947

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