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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 **176 - 200** 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:9119	acute myeloid leukemia	HGNC:7646	Homo sapiens (human)	10	NAT2	inference by association of genotype from phenotype used in manual assertion	PMID:21888617
DOID:8991	cervix uteri carcinoma in situ	HGNC:1748	Homo sapiens (human)	999	CDH1	direct assay evidence used in manual assertion	PMID:17894941
DOID:9351	diabetes mellitus	HGNC:2433	Homo sapiens (human)	1436	CSF1R	direct assay evidence used in manual assertion	PMID:32724427
DOID:0080212	polycystic kidney disease 4	HGNC:9016	Homo sapiens (human)	5314	PKHD1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110383	retinitis pigmentosa 7	HGNC:9942	Homo sapiens (human)	5961	PRPH2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:10652	Alzheimer's disease	HGNC:6922	Homo sapiens (human)	4153	MBL2	inference by association of genotype from phenotype used in manual assertion	PMID:23348713
DOID:0080199	colorectal carcinoma	HGNC:21014	Homo sapiens (human)	84168	ANTXR1	direct assay evidence used in manual assertion	PMID:19528090
DOID:0080336	mitochondrial DNA depletion syndrome 14	HGNC:8140	Homo sapiens (human)	4976	OPA1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:3083	chronic obstructive pulmonary disease	HGNC:5973	Homo sapiens (human)	3596	IL13	inference by association of genotype from phenotype used in manual assertion	PMID:15308043 PMID:19796199 PMID:19995275
DOID:2581	chondrodysplasia punctata	HGNC:719	Homo sapiens (human)	415	ARSL	inference by association of genotype from phenotype used in manual assertion	PMID:9409863
DOID:0110922	familial hemophagocytic lymphohistiocytosis 2	HGNC:9360	Homo sapiens (human)	5551	PRF1	inference by association of genotype from phenotype used in manual assertion	PMID:12060139 RGD:7240710
DOID:0080697	Opitz GBBB syndrome	HGNC:7095	Homo sapiens (human)	4281	MID1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:2508	Takayasu's arteritis	HGNC:6001	Homo sapiens (human)	3558	IL2	direct assay evidence used in manual assertion	PMID:2574087
DOID:418	systemic scleroderma	MGI:102858	Mus musculus (house mouse)	14284	Fosl2	author statement supported by traceable reference	PMID:27864286
DOID:0050861	colorectal adenocarcinoma	HGNC:5331	Homo sapiens (human)	64127	NOD2	inference by association of genotype from phenotype used in manual assertion	PMID:27354594
DOID:2513	basal cell carcinoma	HGNC:950	Homo sapiens (human)	8314	BAP1	inference by association of genotype from phenotype used in manual assertion	PMID:25080371
DOID:3717	gastric adenocarcinoma	HGNC:16806	Homo sapiens (human)	51366	UBR5	mutant phenotype evidence used in manual assertion	PMID:27590582
DOID:900	hepatopulmonary syndrome	RGD:3876	Rattus norvegicus (Norway rat)	24835	Tnf	mutant phenotype evidence used in manual assertion	PMID:26236934
DOID:3407	carotid artery disease	HGNC:6709	Homo sapiens (human)	4049	LTA	inference by association of genotype from phenotype used in manual assertion	PMID:17065682
DOID:9111	cutaneous leishmaniasis	HGNC:10907	Homo sapiens (human)	6556	SLC11A1	inference by association of genotype from phenotype used in manual assertion	PMID:20089160
DOID:9279	hyperhomocysteinemia	RGD:2737	Rattus norvegicus (Norway rat)	24409	Grin2a	direct assay evidence used in manual assertion	PMID:25457025
DOID:399	tuberculosis	HGNC:7782	Homo sapiens (human)	4780	NFE2L2	inference by association of genotype from phenotype used in manual assertion	PMID:31586142
DOID:0111607	distal arthrogryposis type 3	HGNC:26270	Homo sapiens (human)	63895	PIEZO2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080526	bronchiectasis 1	HGNC:10600	Homo sapiens (human)	6338	SCNN1B	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:11198	DiGeorge syndrome	MGI:2154244	Mus musculus (house mouse)	67784	Plxnd1	author statement supported by traceable reference	MGI:5284969

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