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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 **14226 - 14250** 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:0070441	retinal macular dystrophy 4	HGNC:11891	Homo sapiens (human)	7123	CLEC3B	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060896	Parkinson's disease 23	HGNC:23594	Homo sapiens (human)	54832	VPS13C	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060350	adenine phosphoribosyltransferase deficiency	HGNC:626	Homo sapiens (human)	353	APRT	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111705	oculoectodermal syndrome	HGNC:6407	Homo sapiens (human)	3845	KRAS	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:12120	pulmonary alveolar proteinosis	HGNC:2435	Homo sapiens (human)	1438	CSF2RA	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:612	primary immunodeficiency disease	HGNC:29002	Homo sapiens (human)	23149	FCHO1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0081135	agammaglobulinemia 2	HGNC:5870	Homo sapiens (human)	3543	IGLL1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111927	spermatogenic failure 37	HGNC:30761	Homo sapiens (human)	199223	TTC21A	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060892	late onset Parkinson's disease	HGNC:10555	Homo sapiens (human)	6311	ATXN2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110176	Charcot-Marie-Tooth disease axonal type 2X	HGNC:11226	Homo sapiens (human)	80208	SPG11	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:9258	Waardenburg syndrome	HGNC:6343	Homo sapiens (human)	4254	KITLG	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070425	combined oxidative phosphorylation deficiency 52	HGNC:15910	Homo sapiens (human)	9054	NFS1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110423	dilated cardiomyopathy 1C	HGNC:15710	Homo sapiens (human)	11155	LDB3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110736	neurodegeneration with brain iron accumulation 2b	HGNC:9039	Homo sapiens (human)	8398	PLA2G6	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080334	aortic valve disease 2	HGNC:6772	Homo sapiens (human)	4091	SMAD6	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0090107	autosomal dominant hypocalcemia 1	HGNC:1514	Homo sapiens (human)	846	CASR	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:3969	papillary thyroid carcinoma	HGNC:5173	Homo sapiens (human)	3265	HRAS	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110751	type 1 diabetes mellitus 12	HGNC:2505	Homo sapiens (human)	1493	CTLA4	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050437	Danon disease	HGNC:6501	Homo sapiens (human)	3920	LAMP2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080764	hereditary diffuse gastric cancer	HGNC:1748	Homo sapiens (human)	999	CDH1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:1024	leprosy	HGNC:6709	Homo sapiens (human)	4049	LTA	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:12449	aplastic anemia	HGNC:9360	Homo sapiens (human)	5551	PRF1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050646	distal arthrogryposis	HGNC:16305	Homo sapiens (human)	170689	ADAMTS15	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080447	developmental and epileptic encephalopathy 43	HGNC:4083	Homo sapiens (human)	2562	GABRB3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080380	nephrotic syndrome type 5	HGNC:6487	Homo sapiens (human)	3913	LAMB2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710

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