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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 **126 - 150** of **14279** in total

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Disease ID ▲	Disease Name	Alliance of Genome Resources ID	Species	Gene ID	Gene Symbol	FlyGlycoDB	Evidence	References
DOID:0050445	X-linked hypophosphatemic rickets	MGI:107489	Mus musculus (house mouse)	18675	Phex		author statement supported by traceable reference	PMID:11159866 PMID:12414538 PMID:15029877 PMID:15976027 PMID:17710565 PMID:22527485 PMID:22573557 PMID:29735309 PMID:9063736
DOID:0050445	X-linked hypophosphatemic rickets	HGNC:8918	Homo sapiens (human)	5251	PHEX		inference by association of genotype from phenotype used in manual assertion	PMID:7550339 PMID:9106524 RGD:7240710
DOID:0050449	pachyonychia congenita	HGNC:6427	Homo sapiens (human)	3872	KRT17		inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050450	Gitelman syndrome	MGI:108114	Mus musculus (house mouse)	20497	Slc12a3		author statement supported by traceable reference	PMID:36370249 PMID:9786924
DOID:0050450	Gitelman syndrome	HGNC:2027	Homo sapiens (human)	1188	CLCNKB		inference by association of genotype from phenotype used in manual assertion	PMID:11102542
DOID:0050450	Gitelman syndrome	HGNC:10912	Homo sapiens (human)	6559	SLC12A3		inference by association of genotype from phenotype used in manual assertion	PMID:16221718 RGD:7240710
DOID:0050450	Gitelman syndrome	MGI:1917097	Mus musculus (house mouse)	69847	Wnk4		author statement supported by traceable reference	PMID:22550170
DOID:0050452	mevalonic aciduria	HGNC:7530	Homo sapiens (human)	4598	MVK		inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050453	lissencephaly	HGNC:8574	Homo sapiens (human)	5048	PAFAH1B1		inference by association of genotype from phenotype used in manual assertion	PMID:11115846
DOID:0050453	lissencephaly	MGI:101864	Mus musculus (house mouse)	13138	Dag1		author statement supported by traceable reference	PMID:12140559
DOID:0050453	lissencephaly	HGNC:9202	Homo sapiens (human)	10585	POMT1		inference by association of genotype from phenotype used in manual assertion	PMID:17559086
DOID:0050453	lissencephaly	MGI:98869	Mus musculus (house mouse)	22142	Tuba1a		author statement supported by traceable reference	PMID:17218254
DOID:0050453	lissencephaly	HGNC:19139	Homo sapiens (human)	55624	POMGNT1		inference by association of genotype from phenotype used in manual assertion	PMID:17559086
DOID:0050453	lissencephaly	HGNC:19743	Homo sapiens (human)	29954	POMT2		inference by association of genotype from phenotype used in manual assertion	PMID:17559086
DOID:0050453	lissencephaly	FB:FBgn0034072	Drosophila melanogaster (fruit fly)	36773	Dg	CG18250	combinatorial experimental and author inference evidence used in manual assertion	PMID:25232965
DOID:0050453	lissencephaly	HGNC:20766	Homo sapiens (human)	7846	TUBA1A		inference by association of genotype from phenotype used in manual assertion	PMID:17584854
DOID:0050454	periventricular nodular heterotopia	HGNC:15853	Homo sapiens (human)	10564	ARFGEF2		inference by association of genotype from phenotype used in manual assertion	PMID:14647276 RGD:7240710
DOID:0050454	periventricular nodular heterotopia	HGNC:6836	Homo sapiens (human)	4131	MAP1B		inference by association of genotype from phenotype used in manual assertion	RGD:7240710
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:0050454	periventricular nodular heterotopia	HGNC:7728	Homo sapiens (human)	23327	NEDD4L		inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050456	Buruli ulcer disease	HGNC:10907	Homo sapiens (human)	6556	SLC11A1		inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050457	Sertoli cell-only syndrome	MGI:1918885	Mus musculus (house mouse)	328329	Mast4		author statement supported by traceable reference	PMID:33219327
DOID:0050458	juvenile myelomonocytic leukemia	HGNC:370	Homo sapiens (human)	9590	AKAP12		direct assay evidence used in manual assertion	PMID:26891149
DOID:0050458	juvenile myelomonocytic leukemia	MGI:95559	Mus musculus (house mouse)	14255	Flt3		author statement supported by traceable reference	PMID:17936561
DOID:0050458	juvenile myelomonocytic leukemia	HGNC:7765	Homo sapiens (human)	4763	NF1		inference by association of genotype from phenotype used in manual assertion	RGD:7240710

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