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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 **601 - 625** 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:0112245	focal segmental glomerulosclerosis 3	HGNC:14258	Homo sapiens (human)	23607	CD2AP	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110764	hereditary spastic paraplegia 11	HGNC:11226	Homo sapiens (human)	80208	SPG11	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:526	human immunodeficiency virus infectious disease	HGNC:5962	Homo sapiens (human)	3586	IL10	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0112383	KINSSHIP syndrome	HGNC:6473	Homo sapiens (human)	3899	AFF3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080227	autosomal dominant intellectual developmental disorder 55	HGNC:21042	Homo sapiens (human)	116150	NUS1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050715	methylmalonic aciduria and homocystinuria type cblC	HGNC:9352	Homo sapiens (human)	5052	PRDX1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060356	Vici syndrome	HGNC:29331	Homo sapiens (human)	57724	EPG5	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080429	developmental and epileptic encephalopathy 24	HGNC:4845	Homo sapiens (human)	348980	HCN1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110098	atopic dermatitis 2	HGNC:3748	Homo sapiens (human)	2312	FLG	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:612	primary immunodeficiency disease	HGNC:6021	Homo sapiens (human)	3572	IL6ST	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0081046	frontonasal dysplasia 2	HGNC:450	Homo sapiens (human)	60529	ALX4	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:9256	colorectal cancer	HGNC:9031	Homo sapiens (human)	5320	PLA2G2A	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111996	immunodeficiency 51	HGNC:5985	Homo sapiens (human)	23765	IL17RA	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110222	Brugada syndrome 5	HGNC:10586	Homo sapiens (human)	6324	SCN1B	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080669	posterior polymorphous corneal dystrophy 4	HGNC:2799	Homo sapiens (human)	79977	GRHL2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0112333	pontocerebellar hypoplasia type 16	HGNC:7102	Homo sapiens (human)	9562	MINPP1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080563	congenital disorder of glycosylation Ik	HGNC:18294	Homo sapiens (human)	56052	ALG1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:9256	colorectal cancer	HGNC:959	Homo sapiens (human)	581	BAX	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111923	spermatogenic failure 42	HGNC:29936	Homo sapiens (human)	83894	TTC29	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060447	epithelial basement membrane dystrophy	HGNC:11771	Homo sapiens (human)	7045	TGFBI	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110682	congenital myasthenic syndrome 16	HGNC:10591	Homo sapiens (human)	6329	SCN4A	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070040	autosomal dominant intellectual developmental disorder 10	HGNC:1406	Homo sapiens (human)	10369	CACNG2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080089	tubular aggregate myopathy 1	HGNC:11386	Homo sapiens (human)	6786	STIM1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110779	hereditary spastic paraplegia 28	HGNC:19714	Homo sapiens (human)	80821	DDHD1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0090094	hypogonadotropic hypogonadism 1 with or without anosmia	HGNC:6211	Homo sapiens (human)	3730	ANOS1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710

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