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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 **301 - 325** 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:0050571	congenital disorder of glycosylation type II	HGNC:4061	Homo sapiens (human)	2542	SLC37A4	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050571	congenital disorder of glycosylation type II	HGNC:18305	Homo sapiens (human)	10159	ATP6AP2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050572	cone-rod dystrophy	ZFIN:ZDB-GENE-130530-959	Danio rerio (zebrafish)	557044	eys	author statement supported by traceable reference used in manual assertion	PMID:28378834
DOID:0050572	cone-rod dystrophy	HGNC:2343	Homo sapiens (human)	23418	CRB1	inference by association of genotype from phenotype used in manual assertion	PMID:23767994
DOID:0050573	2-hydroxyglutaric aciduria	HGNC:20499	Homo sapiens (human)	79944	L2HGDH	inference by association of genotype from phenotype used in manual assertion	PMID:24894778 PMID:26208971
DOID:0050574	L-2-hydroxyglutaric aciduria	HGNC:20499	Homo sapiens (human)	79944	L2HGDH	inference by association of genotype from phenotype used in manual assertion	PMID:24573090 RGD:7240710
DOID:0050576	Senior-Loken syndrome	HGNC:17861	Homo sapiens (human)	26146	TRAF3IP1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050577	cranioectodermal dysplasia	SGD:S000005309	Saccharomyces cerevisiae S288C	855760	SEC12	sequence similarity evidence used in manual assertion	PMID:28542158
DOID:0050577	cranioectodermal dysplasia	SGD:S000005309	Saccharomyces cerevisiae S288C	855760	SEC12	genetic interaction evidence used in manual assertion	PMID:28542158
DOID:0050578	occult macular dystrophy	HGNC:15946	Homo sapiens (human)	94137	RP1L1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050579	glycogen storage disease XV	HGNC:4699	Homo sapiens (human)	2992	GYG1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050579	glycogen storage disease XV	MGI:1351614	Mus musculus (house mouse)	27357	Gyg1	author statement supported by traceable reference	PMID:33219378
DOID:0050580	hereditary lymphedema	MGI:95561	Mus musculus (house mouse)	14257	Flt4	author statement supported by traceable reference	PMID:11592985
DOID:0050580	hereditary lymphedema	HGNC:485	Homo sapiens (human)	285	ANGPT2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050580	hereditary lymphedema	HGNC:1850	Homo sapiens (human)	9620	CELSR1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050580	hereditary lymphedema	HGNC:28993	Homo sapiens (human)	9780	PIEZO1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050580	hereditary lymphedema	HGNC:11809	Homo sapiens (human)	7075	TIE1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050580	hereditary lymphedema	HGNC:16709	Homo sapiens (human)	10203	CALCRL	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050580	hereditary lymphedema	MGI:109124	Mus musculus (house mouse)	22341	Vegfc	author statement supported by traceable reference	PMID:24590274
DOID:0050580	hereditary lymphedema	HGNC:17754	Homo sapiens (human)	55901	THSD1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050581	brachydactyly	HGNC:10994	Homo sapiens (human)	1836	SLC26A2	inference by association of genotype from phenotype used in manual assertion	PMID:21155763
DOID:0050581	brachydactyly	HGNC:5136	Homo sapiens (human)	3239	HOXD13	inference by association of genotype from phenotype used in manual assertion	PMID:12649808
DOID:0050585	congenital generalized lipodystrophy	HGNC:8754	Homo sapiens (human)	5130	PCYT1A	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050587	trichotillomania	HGNC:20297	Homo sapiens (human)	114798	SLITRK1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1	MGI:2447586	Mus musculus (house mouse)	243853	Fkrp	author statement supported by traceable reference	PMID:20675713 PMID:26306834

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