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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:418	systemic scleroderma	HGNC:3603	Homo sapiens (human)	2200	FBN1	direct assay evidence used in manual assertion	PMID:10395706
DOID:1574	alcohol use disorder	HGNC:2228	Homo sapiens (human)	1312	COMT	inference by association of genotype from phenotype used in manual assertion	PMID:10395222
DOID:219	colon cancer	HGNC:9236	Homo sapiens (human)	5468	PPARG	inference by association of genotype from phenotype used in manual assertion	PMID:10394368
DOID:9351	diabetes mellitus	HGNC:10938	Homo sapiens (human)	10560	SLC19A2	inference by association of genotype from phenotype used in manual assertion	PMID:10391221
DOID:13382	megaloblastic anemia	HGNC:10938	Homo sapiens (human)	10560	SLC19A2	inference by association of genotype from phenotype used in manual assertion	PMID:10391221
DOID:2581	chondrodysplasia punctata	HGNC:3133	Homo sapiens (human)	10682	EBP	inference by association of genotype from phenotype used in manual assertion	PMID:10391218
DOID:0060292	X-linked chondrodysplasia punctata 1	MGI:107822	Mus musculus (house mouse)	13595	Ebp	author statement supported by traceable reference	PMID:10391218
DOID:0050866	oral squamous cell carcinoma	HGNC:6001	Homo sapiens (human)	3558	IL2	direct assay evidence used in manual assertion	PMID:10389944
DOID:9352	type 2 diabetes mellitus	HGNC:9291	Homo sapiens (human)	5506	PPP1R3A	inference by association of genotype from phenotype used in manual assertion	PMID:10389856 PMID:12831406 PMID:19553562 PMID:9726244 RGD:7240710
DOID:9256	colorectal cancer	HGNC:4886	Homo sapiens (human)	3077	HFE	inference by association of genotype from phenotype used in manual assertion	PMID:10383894
DOID:9538	multiple myeloma	HGNC:4886	Homo sapiens (human)	3077	HFE	inference by association of genotype from phenotype used in manual assertion	PMID:10383894
DOID:0111046	platelet-type bleeding disorder 10	MGI:107899	Mus musculus (house mouse)	12491	Cd36	author statement supported by traceable reference	PMID:10383407
DOID:0111029	hemochromatosis type 1	MGI:109191	Mus musculus (house mouse)	15216	Hfe	author statement supported by traceable reference	PMID:10381492 PMID:10557317 PMID:10791995 PMID:14673107 PMID:16491649 PMID:17264297 PMID:20976594
DOID:114	heart disease	HGNC:11050	Homo sapiens (human)	6532	SLC6A4	inference by association of genotype from phenotype used in manual assertion	PMID:10381332
DOID:12995	conduct disorder	HGNC:644	Homo sapiens (human)	367	AR	inference by association of genotype from phenotype used in manual assertion	PMID:10380986
DOID:0050856	oppositional defiant disorder	HGNC:644	Homo sapiens (human)	367	AR	inference by association of genotype from phenotype used in manual assertion	PMID:10380986
DOID:1094	attention deficit hyperactivity disorder	HGNC:644	Homo sapiens (human)	367	AR	inference by association of genotype from phenotype used in manual assertion	PMID:10380986
DOID:0110007	achromatopsia 2	MGI:1341818	Mus musculus (house mouse)	12790	Cnga3	author statement supported by traceable reference	PMID:10377453 PMID:22509403
DOID:106	pleural tuberculosis	HGNC:6000	Homo sapiens (human)	3557	IL1RN	inference by association of genotype from phenotype used in manual assertion	PMID:10377182
DOID:4480	achondroplasia	HGNC:3690	Homo sapiens (human)	2261	FGFR3	inference by association of genotype from phenotype used in manual assertion	PMID:10377013 PMID:8078586 RGD:7240710
DOID:3138	acanthosis nigricans	HGNC:3690	Homo sapiens (human)	2261	FGFR3	inference by association of genotype from phenotype used in manual assertion	PMID:10377013 PMID:18583390
DOID:1793	pancreatic cancer	HGNC:7656	Homo sapiens (human)	4684	NCAM1	direct assay evidence used in manual assertion	PMID:10374842
DOID:2477	motor peripheral neuropathy	HGNC:3239	Homo sapiens (human)	1959	EGR2	inference by association of genotype from phenotype used in manual assertion	PMID:10369870 PMID:12970165
DOID:12361	Graves' disease	HGNC:2505	Homo sapiens (human)	1493	CTLA4	inference by association of genotype from phenotype used in manual assertion	PMID:10369864 PMID:10404810 PMID:12780750 PMID:14986169 PMID:15785242 PMID:20352109 PMID:9672157
DOID:0060745	Doyne honeycomb retinal dystrophy	HGNC:3218	Homo sapiens (human)	2202	EFEMP1	inference by association of genotype from phenotype used in manual assertion	PMID:10369267 RGD:7240710

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