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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 **76 - 100** 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:0050328	congenital hypothyroidism	HGNC:11040	Homo sapiens (human)	6528	SLC5A5	inference by association of genotype from phenotype used in manual assertion	PMID:9171822
DOID:0050328	congenital hypothyroidism	MGI:98733	Mus musculus (house mouse)	21819	Tg	author statement supported by traceable reference	PMID:3803305
DOID:0050331	lacrimoauriculodentodigital syndrome 1	HGNC:3689	Homo sapiens (human)	2263	FGFR2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050331	lacrimoauriculodentodigital syndrome 1	MGI:1099809	Mus musculus (house mouse)	14165	Fgf10	author statement supported by traceable reference	PMID:27590203
DOID:0050338	primary bacterial infectious disease	FB:FBgn0283531	Drosophila melanogaster (fruit fly)	33477	Duox	combinatorial experimental and author inference evidence used in manual assertion	PMID:25639794
DOID:0050338	primary bacterial infectious disease	FB:FBgn0003444	Drosophila melanogaster (fruit fly)	33196	smo	combinatorial experimental and author inference evidence used in manual assertion	PMID:25639794
DOID:0050419	complement factor I deficiency	HGNC:5394	Homo sapiens (human)	3426	CFI	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050424	familial adenomatous polyposis	HGNC:7527	Homo sapiens (human)	4595	MUTYH	inference by association of genotype from phenotype used in manual assertion	PMID:11818965
DOID:0050424	familial adenomatous polyposis	SGD:S000006125	Saccharomyces cerevisiae S288C	855897	HRR25	sequence similarity evidence used in manual assertion	PMID:25860149
DOID:0050425	restless legs syndrome	HGNC:11740	Homo sapiens (human)	7018	TF	direct assay evidence used in manual assertion	PMID:23369046
DOID:0050425	restless legs syndrome	MGI:94925	Mus musculus (house mouse)	13490	Drd3	author statement supported by traceable reference	PMID:15601940
DOID:0050426	Stevens-Johnson syndrome	HGNC:4944	Homo sapiens (human)	3119	HLA-DQB1	inference by association of genotype from phenotype used in manual assertion	PMID:8841298
DOID:0050426	Stevens-Johnson syndrome	HGNC:4931	Homo sapiens (human)	3105	HLA-A	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050426	Stevens-Johnson syndrome	HGNC:4932	Homo sapiens (human)	3106	HLA-B	inference by association of genotype from phenotype used in manual assertion	PMID:19018717 PMID:23692434
DOID:0050427	xeroderma pigmentosum	SGD:S000002827	Saccharomyces cerevisiae S288C	852028	RAD30	genetic interaction evidence used in manual assertion	PMID:11743006
DOID:0050427	xeroderma pigmentosum	HGNC:12816	Homo sapiens (human)	7508	XPC	inference by association of genotype from phenotype used in manual assertion	PMID:8298653
DOID:0050427	xeroderma pigmentosum	SGD:S000002827	Saccharomyces cerevisiae S288C	852028	RAD30	sequence similarity evidence used in manual assertion	PMID:11743006
DOID:0050430	multiple endocrine neoplasia type 2A	HGNC:9967	Homo sapiens (human)	5979	RET	inference by association of genotype from phenotype used in manual assertion	PMID:19719936 RGD:7240710
DOID:0050431	arrhythmogenic right ventricular cardiomyopathy	HGNC:9024	Homo sapiens (human)	5318	PKP2	inference by association of genotype from phenotype used in manual assertion	PMID:15489853 PMID:16567567
DOID:0050431	arrhythmogenic right ventricular cardiomyopathy	HGNC:3049	Homo sapiens (human)	1829	DSG2	direct assay evidence used in manual assertion	PMID:30239670
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:0050431	arrhythmogenic right ventricular cardiomyopathy	HGNC:1759	Homo sapiens (human)	1000	CDH2	inference by association of genotype from phenotype used in manual assertion	PMID:28280076 PMID:28326674
DOID:0050431	arrhythmogenic right ventricular cardiomyopathy	HGNC:164	Homo sapiens (human)	88	ACTN2	inference by association of genotype from phenotype used in manual assertion	PMID:11078270
DOID:0050431	arrhythmogenic right ventricular cardiomyopathy	HGNC:3052	Homo sapiens (human)	1832	DSP	inference by association of genotype from phenotype used in manual assertion	PMID:12875771
DOID:0050431	arrhythmogenic right ventricular cardiomyopathy	MGI:1196466	Mus musculus (house mouse)	13511	Dsg2	author statement supported by traceable reference	PMID:36268721

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