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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 **5826 - 5850** 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:0070238	primary coenzyme Q10 deficiency 1	HGNC:25223	Homo sapiens (human)	27235	COQ2	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:0110082	arrhythmogenic right ventricular dysplasia 11	HGNC:3036	Homo sapiens (human)	1824	DSC2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:12241	beta thalassemia	HGNC:13221	Homo sapiens (human)	53335	BCL11A	inference by association of genotype from phenotype used in manual assertion	PMID:22258351 PMID:23541515 PMID:25751242
DOID:2871	endometrial carcinoma	HGNC:6770	Homo sapiens (human)	4089	SMAD4	inference by association of genotype from phenotype used in manual assertion	PMID:10331746
DOID:0111608	distal arthrogryposis type 5	HGNC:26270	Homo sapiens (human)	63895	PIEZO2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070296	primary autosomal recessive microcephaly	HGNC:24502	Homo sapiens (human)	284403	WDR62	inference by association of genotype from phenotype used in manual assertion	PMID:22308068 PMID:25303973
DOID:0111420	familial GPIHBP1 deficiency	HGNC:24945	Homo sapiens (human)	338328	GPIHBP1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:5419	schizophrenia	HGNC:10934	Homo sapiens (human)	6570	SLC18A1	inference by association of genotype from phenotype used in manual assertion	PMID:18451639
DOID:0080569	congenital disorder of glycosylation Ir	HGNC:2728	Homo sapiens (human)	1650	DDOST	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:8947	diabetic retinopathy	HGNC:21050	Homo sapiens (human)	54901	CDKAL1	inference by association of genotype from phenotype used in manual assertion	PMID:28821857
DOID:0110526	autosomal recessive nonsyndromic deafness 79	HGNC:26894	Homo sapiens (human)	286262	TPRN	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:224	transient cerebral ischemia	HGNC:8824	Homo sapiens (human)	5176	SERPINF1	mutant phenotype evidence used in manual assertion	PMID:18624913
DOID:3083	chronic obstructive pulmonary disease	HGNC:6554	Homo sapiens (human)	3953	LEPR	inference by association of genotype from phenotype used in manual assertion	PMID:19196818
DOID:1324	lung cancer	HGNC:11180	Homo sapiens (human)	6648	SOD2	direct assay evidence used in manual assertion	PMID:15213518
DOID:0112007	growth hormone secreting pituitary adenoma 2	HGNC:14963	Homo sapiens (human)	83550	GPR101	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111310	familial febrile seizures 2	HGNC:4846	Homo sapiens (human)	610	HCN2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070577	spermatogenic failure 78	HGNC:29350	Homo sapiens (human)	80726	IQCN	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:1210	optic neuritis	HGNC:637	Homo sapiens (human)	361	AQP4	direct assay evidence used in manual assertion	PMID:22157536 PMID:23024849
DOID:0110768	hereditary spastic paraplegia 15	HGNC:20761	Homo sapiens (human)	23503	ZFYVE26	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080000	muscular disease	HGNC:5006	Homo sapiens (human)	3156	HMGCR	direct assay evidence used in manual assertion	PMID:21360500
DOID:0081333	Wiedemann-Rautenstrauch syndrome	HGNC:30074	Homo sapiens (human)	11128	POLR3A	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111870	nonphotosensitive trichothiodystrophy 7	HGNC:11572	Homo sapiens (human)	6897	TARS1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110424	dilated cardiomyopathy 1CC	HGNC:29557	Homo sapiens (human)	91624	NEXN	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:9351	diabetes mellitus	HGNC:4886	Homo sapiens (human)	3077	HFE	inference by association of genotype from phenotype used in manual assertion	PMID:30651232

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