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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:9206	Barrett's esophagus	HGNC:4559	Homo sapiens (human)	2882	GPX7	direct assay evidence used in manual assertion	PMID:18664505
DOID:9206	Barrett's esophagus	HGNC:922	Homo sapiens (human)	135152	B3GAT2	direct assay evidence used in manual assertion	PMID:26545406
DOID:9212	pityriasis rubra pilaris	HGNC:16446	Homo sapiens (human)	79092	CARD14	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:9220	central sleep apnea	RGD:3811	Rattus norvegicus (Norway rat)	24807	Tacr1	mutant phenotype evidence used in manual assertion	PMID:18420958
DOID:9240	erythromelalgia	HGNC:10597	Homo sapiens (human)	6335	SCN9A	inference by association of genotype from phenotype used in manual assertion	PMID:14985375 PMID:16216943 RGD:7240710
DOID:9245	Alagille syndrome	HGNC:7882	Homo sapiens (human)	4853	NOTCH2	inference by association of genotype from phenotype used in manual assertion	PMID:16773578 RGD:7240710
DOID:9245	Alagille syndrome	HGNC:6188	Homo sapiens (human)	182	JAG1	inference by association of genotype from phenotype used in manual assertion	PMID:21714972 RGD:7240710
DOID:9245	Alagille syndrome	MGI:1095416	Mus musculus (house mouse)	16449	Jag1	author statement supported by traceable reference	PMID:11259677 PMID:21062863 PMID:22156581 PMID:23095891 PMID:29162437
DOID:9246	cerebral amyloid angiopathy	HGNC:8133	Homo sapiens (human)	4973	OLR1	inference by association of genotype from phenotype used in manual assertion	PMID:16328515
DOID:9246	cerebral amyloid angiopathy	HGNC:7154	Homo sapiens (human)	4311	MME	direct assay evidence used in manual assertion	PMID:21382117
DOID:9246	cerebral amyloid angiopathy	MGI:1309517	Mus musculus (house mouse)	16432	Itm2b	author statement supported by traceable reference	PMID:21048150 PMID:21098268
DOID:9248	Pallister-Hall syndrome	MGI:95729	Mus musculus (house mouse)	14634	Gli3	author statement supported by traceable reference	PMID:11978771
DOID:9248	Pallister-Hall syndrome	HGNC:4319	Homo sapiens (human)	2737	GLI3	inference by association of genotype from phenotype used in manual assertion	PMID:15739154 PMID:24736735 PMID:9054938 RGD:7240710
DOID:9252	amino acid metabolic disorder	HGNC:8923	Homo sapiens (human)	26227	PHGDH	inference by association of genotype from phenotype used in manual assertion	PMID:11055895
DOID:9252	amino acid metabolic disorder	HGNC:5005	Homo sapiens (human)	3155	HMGCL	inference by association of genotype from phenotype used in manual assertion	PMID:8440722
DOID:9252	amino acid metabolic disorder	HGNC:8653	Homo sapiens (human)	5095	PCCA	inference by association of genotype from phenotype used in manual assertion	PMID:9385377
DOID:9252	amino acid metabolic disorder	HGNC:2501	Homo sapiens (human)	1491	CTH	inference by association of genotype from phenotype used in manual assertion	PMID:12574942
DOID:9252	amino acid metabolic disorder	HGNC:8654	Homo sapiens (human)	5096	PCCB	inference by association of genotype from phenotype used in manual assertion	PMID:8411997
DOID:9253	gastrointestinal stromal tumor	HGNC:11730	Homo sapiens (human)	7015	TERT	inference by association of genotype from phenotype used in manual assertion	PMID:26372813
DOID:9253	gastrointestinal stromal tumor	HGNC:6342	Homo sapiens (human)	3815	KIT	genetic interaction evidence used in manual assertion	PMID:21132270
DOID:9253	gastrointestinal stromal tumor	HGNC:6342	Homo sapiens (human)	3815	KIT	inference by association of genotype from phenotype used in manual assertion	PMID:30983504 RGD:7240710
DOID:9253	gastrointestinal stromal tumor	HGNC:10961	Homo sapiens (human)	28234	SLCO1B3	inference by association of genotype from phenotype used in manual assertion	PMID:29054076
DOID:9253	gastrointestinal stromal tumor	HGNC:10682	Homo sapiens (human)	6391	SDHC	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:9253	gastrointestinal stromal tumor	HGNC:11386	Homo sapiens (human)	6786	STIM1	mutant phenotype evidence used in manual assertion	PMID:29957833
DOID:9253	gastrointestinal stromal tumor	MGI:96677	Mus musculus (house mouse)	16590	Kit	author statement supported by traceable reference	PMID:12754375 PMID:16061643 PMID:18098338 PMID:22652566

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