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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:0111555	Alkuraya-Kucinskas syndrome	HGNC:26953	Homo sapiens (human)	84162	BLTP1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111611	autosomal recessive spinocerebellar ataxia 4	HGNC:23595	Homo sapiens (human)	55187	VPS13D	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070546	primary pigmented nodular adrenocortical disease 1	HGNC:9388	Homo sapiens (human)	5573	PRKAR1A	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110196	Charcot-Marie-Tooth disease type 4G	HGNC:4922	Homo sapiens (human)	3098	HK1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:12849	autistic disorder	HGNC:14287	Homo sapiens (human)	57502	NLGN4X	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111452	progressive myoclonus epilepsy 1A	HGNC:2482	Homo sapiens (human)	1476	CSTB	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:14557	primary pulmonary hypertension	HGNC:1078	Homo sapiens (human)	659	BMPR2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0090059	enhanced S-cone syndrome	HGNC:7974	Homo sapiens (human)	10002	NR2E3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:1324	lung cancer	HGNC:3236	Homo sapiens (human)	1956	EGFR	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070521	peeling skin syndrome 2	HGNC:11781	Homo sapiens (human)	9333	TGM5	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0081297	oculopharyngodistal myopathy 1	HGNC:31708	Homo sapiens (human)	29967	LRP12	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050886	Troyer syndrome	HGNC:18514	Homo sapiens (human)	23111	SPART	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0081242	autoimmune interstitial lung, joint, and kidney disease	HGNC:2230	Homo sapiens (human)	1314	COPA	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080940	hereditary angioedema type III	HGNC:3530	Homo sapiens (human)	2161	F12	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:9119	acute myeloid leukemia	HGNC:10471	Homo sapiens (human)	861	RUNX1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:10825	essential hypertension	HGNC:804	Homo sapiens (human)	481	ATP1B1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0081113	Baraitser-Winter syndrome 2	HGNC:144	Homo sapiens (human)	71	ACTG1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111495	combined oxidative phosphorylation deficiency 33	HGNC:1243	Homo sapiens (human)	708	C1QBP	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111404	Jalili syndrome	HGNC:105	Homo sapiens (human)	26504	CNNM4	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060987	preaxial polydactyly I	HGNC:4317	Homo sapiens (human)	2735	GLI1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0090050	dystonia 27	HGNC:2213	Homo sapiens (human)	1293	COL6A3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:3783	Coffin-Lowry syndrome	HGNC:10432	Homo sapiens (human)	6197	RPS6KA3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0112349	hereditary spastic paraplegia 81	HGNC:29361	Homo sapiens (human)	85465	SELENOI	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110375	retinitis pigmentosa 40	HGNC:8786	Homo sapiens (human)	5158	PDE6B	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:7148	rheumatoid arthritis	HGNC:5962	Homo sapiens (human)	3586	IL10	inference by association of genotype from phenotype used in manual assertion	RGD:7240710

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