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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 **76 - 100** 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:11123	IgA vasculitis	HGNC:6000	Homo sapiens (human)	3557	IL1RN	inference by association of genotype from phenotype used in manual assertion	PMID:9186886
DOID:13001	carotid stenosis	RGD:3952	Rattus norvegicus (Norway rat)	25361	Vcam1	mutant phenotype evidence used in manual assertion	PMID:19958991
DOID:2152	ovary epithelial cancer	HGNC:376	Homo sapiens (human)	9472	AKAP6	inference by association of genotype from phenotype used in manual assertion	PMID:29979793
DOID:0080095	myofibrillar myopathy 4	FB:FBgn0265991	Drosophila melanogaster (fruit fly)	36740	Zasp52	combinatorial experimental and curator inference evidence used in manual assertion	PMID:31746737
DOID:9256	colorectal cancer	HGNC:450	Homo sapiens (human)	60529	ALX4	direct assay evidence used in manual assertion	PMID:17101318 PMID:26918234
DOID:0050777	Joubert syndrome	HGNC:694	Homo sapiens (human)	403	ARL3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:10763	hypertension	RGD:3329	Rattus norvegicus (Norway rat)	25513	Pik3r1	mutant phenotype evidence used in manual assertion	PMID:19015400
DOID:1485	cystic fibrosis	HGNC:320	Homo sapiens (human)	177	AGER	inference by association of genotype from phenotype used in manual assertion	PMID:21993476
DOID:3908	lung non-small cell carcinoma	HGNC:2602	Homo sapiens (human)	1591	CYP24A1	inference by association of genotype from phenotype used in manual assertion	PMID:23435876 PMID:25544771 PMID:27669215 PMID:29726119
DOID:10584	retinitis pigmentosa	HGNC:9942	Homo sapiens (human)	5961	PRPH2	inference by association of genotype from phenotype used in manual assertion	PMID:11853584 PMID:16180699 PMID:1684223 PMID:22842402 PMID:7993211 PMID:8912967 PMID:9587927
DOID:8466	retinal degeneration	HGNC:4893	Homo sapiens (human)	3082	HGF	direct assay evidence used in manual assertion	PMID:15505072
DOID:0111242	congenital muscular dystrophy-dystroglycanopathy type A6	HGNC:6511	Homo sapiens (human)	9215	LARGE1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080107	microcephaly and chorioretinopathy 3	HGNC:16691	Homo sapiens (human)	27229	TUBGCP4	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111076	progressive familial heart block type IB	HGNC:17993	Homo sapiens (human)	54795	TRPM4	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110389	retinitis pigmentosa 73	HGNC:26527	Homo sapiens (human)	138050	HGSNAT	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:11721	glycogen storage disease VII	HGNC:8877	Homo sapiens (human)	5213	PFKM	direct assay evidence used in manual assertion	PMID:1533013
DOID:1485	cystic fibrosis	HGNC:1884	Homo sapiens (human)	1080	CFTR	mutant phenotype evidence used in manual assertion	PMID:19620404
DOID:10652	Alzheimer's disease	HGNC:2594	Homo sapiens (human)	1588	CYP19A1	inference by association of genotype from phenotype used in manual assertion	PMID:16882736
DOID:8947	diabetic retinopathy	HGNC:11850	Homo sapiens (human)	7099	TLR4	inference by association of genotype from phenotype used in manual assertion	PMID:19135114
DOID:11725	Cornelia de Lange syndrome	HGNC:28862	Homo sapiens (human)	25836	NIPBL	inference by association of genotype from phenotype used in manual assertion	PMID:22353942 PMID:27125329
DOID:0111450	progressive myoclonus epilepsy 9	HGNC:6638	Homo sapiens (human)	84823	LMNB2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:1273	respiratory syncytial virus infectious disease	HGNC:6029	Homo sapiens (human)	3578	IL9	inference by association of genotype from phenotype used in manual assertion	PMID:20503287
DOID:0111181	familial hemiplegic migraine 1	FB:FBgn0263111	Drosophila melanogaster (fruit fly)	32158	cac	combinatorial experimental and author inference evidence used in manual assertion	PMID:24411734 PMID:30080864
DOID:0060646	congenital chylothorax	MGI:104756	Mus musculus (house mouse)	104099	Itga9	author statement supported by traceable reference	PMID:10866676
DOID:12387	nephrogenic diabetes insipidus	RGD:1306831	Rattus norvegicus (Norway rat)	361618	Stim1	inference by association of genotype from phenotype used in manual assertion	PMID:26574044

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