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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 **176 - 200** 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:10941	intracranial aneurysm	HGNC:3349	Homo sapiens (human)	2022	ENG	inference by association of genotype from phenotype used in manual assertion	PMID:10223461 PMID:19299629
DOID:11211	buphthalmos	HGNC:2597	Homo sapiens (human)	1545	CYP1B1	inference by association of genotype from phenotype used in manual assertion	PMID:10227395 PMID:12567107 PMID:16490498 PMID:19247456 PMID:19593207 PMID:19597567 PMID:20664688 PMID:23922489 RGD:7240710
DOID:10652	Alzheimer's disease	HGNC:2911	Homo sapiens (human)	1743	DLST	inference by association of genotype from phenotype used in manual assertion	PMID:10227647
DOID:1059	intellectual disability	HGNC:10432	Homo sapiens (human)	6197	RPS6KA3	inference by association of genotype from phenotype used in manual assertion	PMID:10319851 PMID:8955270
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:0081108	keratosis palmoplantaris striata 1	HGNC:3048	Homo sapiens (human)	1828	DSG1	inference by association of genotype from phenotype used in manual assertion	PMID:10332028 RGD:7240710
DOID:9352	type 2 diabetes mellitus	HGNC:3544	Homo sapiens (human)	2155	F7	direct assay evidence used in manual assertion	PMID:10332679 PMID:11689270
DOID:2377	multiple sclerosis	HGNC:609	Homo sapiens (human)	344	APOC2	inference by association of genotype from phenotype used in manual assertion	PMID:10335523
DOID:12798	mucopolysaccharidosis	HGNC:5320	Homo sapiens (human)	3373	HYAL1	inference by association of genotype from phenotype used in manual assertion	PMID:10339581
DOID:1270	hereditary hemorrhagic telangiectasia	MGI:95392	Mus musculus (house mouse)	13805	Eng	author statement supported by traceable reference	PMID:10348742 PMID:10562296 PMID:10625534 PMID:24520391 PMID:25082229
DOID:12930	dilated cardiomyopathy	HGNC:2422	Homo sapiens (human)	1431	CS	direct assay evidence used in manual assertion	PMID:10354207 PMID:8252591
DOID:11984	hypertrophic cardiomyopathy	HGNC:2422	Homo sapiens (human)	1431	CS	direct assay evidence used in manual assertion	PMID:10354207
DOID:8689	anorexia nervosa	HGNC:7978	Homo sapiens (human)	2908	NR3C1	direct assay evidence used in manual assertion	PMID:10356629
DOID:11382	corneal neovascularization	HGNC:6000	Homo sapiens (human)	3557	IL1RN	direct assay evidence used in manual assertion	PMID:10359324
DOID:0050570	congenital disorder of glycosylation type I	SGD:S000005528	Saccharomyces cerevisiae S288C	854163	ALG6	genetic interaction evidence used in manual assertion	PMID:10359825 PMID:10914684 PMID:10924277
DOID:0050570	congenital disorder of glycosylation type I	SGD:S000005528	Saccharomyces cerevisiae S288C	854163	ALG6	sequence similarity evidence used in manual assertion	PMID:10359825 PMID:10914684 PMID:10924277
DOID:0050570	congenital disorder of glycosylation type I	SGD:S000006148	Saccharomyces cerevisiae S288C	855874	ALG5	sequence similarity evidence used in manual assertion	PMID:10359825
DOID:0050570	congenital disorder of glycosylation type I	SGD:S000006148	Saccharomyces cerevisiae S288C	855874	ALG5	genetic interaction evidence used in manual assertion	PMID:10359825
DOID:12177	common variable immunodeficiency	HGNC:4944	Homo sapiens (human)	3119	HLA-DQB1	inference by association of genotype from phenotype used in manual assertion	PMID:10361244
DOID:4440	seminoma	HGNC:6342	Homo sapiens (human)	3815	KIT	inference by association of genotype from phenotype used in manual assertion	PMID:10362788
DOID:4441	dysgerminoma	HGNC:6342	Homo sapiens (human)	3815	KIT	inference by association of genotype from phenotype used in manual assertion	PMID:10362788
DOID:1612	breast cancer	HGNC:3273	Homo sapiens (human)	8667	EIF3H	inference by association of genotype from phenotype used in manual assertion	PMID:10362802
DOID:11049	meconium aspiration syndrome	MGI:109349	Mus musculus (house mouse)	11909	Atf2	author statement supported by traceable reference	PMID:10364225
DOID:2729	dyskeratosis congenita	HGNC:2890	Homo sapiens (human)	1736	DKC1	inference by association of genotype from phenotype used in manual assertion	PMID:10364516 PMID:10583221 PMID:23946118 PMID:9590285
DOID:3321	GM2 gangliosidosis	HGNC:4367	Homo sapiens (human)	2760	GM2A	inference by association of genotype from phenotype used in manual assertion	PMID:10364519

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