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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:7376	Homo sapiens (human)	4481	MSR1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111108	maturity-onset diabetes of the young type 10	HGNC:6081	Homo sapiens (human)	3630	INS	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060706	X-linked lymphoproliferative syndrome 2	HGNC:592	Homo sapiens (human)	331	XIAP	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0081181	autosomal recessive intellectual developmental disorder 5	HGNC:25994	Homo sapiens (human)	54888	NSUN2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:936	brain disease	HGNC:15594	Homo sapiens (human)	51163	DBR1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080465	developmental and epileptic encephalopathy 30	HGNC:11142	Homo sapiens (human)	150094	SIK1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:14415	Legg-Calve-Perthes disease	HGNC:2200	Homo sapiens (human)	1280	COL2A1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111988	immunodeficiency 12	HGNC:6819	Homo sapiens (human)	10892	MALT1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060984	digenic dyskeratosis congenita	HGNC:12441	Homo sapiens (human)	7298	TYMS	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110186	Charcot-Marie-Tooth disease type 4D	HGNC:7679	Homo sapiens (human)	10397	NDRG1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:3805	porokeratosis	HGNC:3631	Homo sapiens (human)	2224	FDPS	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111037	glycine N-methyltransferase deficiency	HGNC:4415	Homo sapiens (human)	27232	GNMT	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111571	Weyers acrofacial dysostosis	HGNC:19747	Homo sapiens (human)	132884	EVC2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080384	nephrotic syndrome type 6	HGNC:9678	Homo sapiens (human)	5800	PTPRO	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080097	myofibrillar myopathy 6	HGNC:939	Homo sapiens (human)	9531	BAG3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111620	corneal dystrophy-perceptive deafness syndrome	HGNC:16438	Homo sapiens (human)	83959	SLC4A11	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:1324	lung cancer	HGNC:6407	Homo sapiens (human)	3845	KRAS	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110218	Brugada syndrome 1	HGNC:10593	Homo sapiens (human)	6331	SCN5A	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070568	spermatogenic failure 69	HGNC:18869	Homo sapiens (human)	199720	GGN	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:11830	myopia	HGNC:26575	Homo sapiens (human)	201973	PRIMPOL	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111907	thrombophilia due to thrombin defect	HGNC:3531	Homo sapiens (human)	2162	F13A1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:9253	gastrointestinal stromal tumor	HGNC:10681	Homo sapiens (human)	6390	SDHB	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:5723	optic atrophy	HGNC:11317	Homo sapiens (human)	6742	SSBP1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050650	familial atrial fibrillation	HGNC:60	Homo sapiens (human)	10060	ABCC9	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080118	mitochondrial complex III deficiency nuclear type 9	HGNC:34399	Homo sapiens (human)	790955	UQCC3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710

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