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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:1227	neutropenia	HGNC:566	Homo sapiens (human)	8546	AP3B1	inference by association of genotype from phenotype used in manual assertion	PMID:12125811
DOID:3770	pulmonary fibrosis	HGNC:566	Homo sapiens (human)	8546	AP3B1	inference by association of genotype from phenotype used in manual assertion	PMID:12125811
DOID:1928	Williams-Beuren syndrome	MGI:104572	Mus musculus (house mouse)	16885	Limk1	author statement supported by traceable reference	PMID:12123613
DOID:9563	bronchiectasis	HGNC:1884	Homo sapiens (human)	1080	CFTR	inference by association of genotype from phenotype used in manual assertion	PMID:12123489 PMID:7543317
DOID:14330	Parkinson's disease	RGD:3729	Rattus norvegicus (Norway rat)	29219	Snca	direct assay evidence used in manual assertion	PMID:12122208
DOID:0110143	Bartter disease type 2	MGI:1927248	Mus musculus (house mouse)	56379	Kcnj1	author statement supported by traceable reference	PMID:12122007
DOID:0050790	fibular hypoplasia and complex brachydactyly	HGNC:4220	Homo sapiens (human)	8200	GDF5	inference by association of genotype from phenotype used in manual assertion	PMID:12121354 RGD:7240710
DOID:9631	Pelger-Huet anomaly	HGNC:6518	Homo sapiens (human)	3930	LBR	inference by association of genotype from phenotype used in manual assertion	PMID:12118250 PMID:14617022 RGD:7240710
DOID:14115	toxic shock syndrome	HGNC:5962	Homo sapiens (human)	3586	IL10	direct assay evidence used in manual assertion	PMID:12117955
DOID:1825	childhood absence epilepsy	HGNC:4087	Homo sapiens (human)	2566	GABRG2	inference by association of genotype from phenotype used in manual assertion	PMID:12117362
DOID:1470	major depressive disorder	HGNC:1951	Homo sapiens (human)	1129	CHRM2	inference by association of genotype from phenotype used in manual assertion	PMID:12116189
DOID:2841	asthma	HGNC:2505	Homo sapiens (human)	1493	CTLA4	inference by association of genotype from phenotype used in manual assertion	PMID:12114354 PMID:15316504 PMID:17469155 PMID:19895365
DOID:0050439	Usher syndrome	HGNC:7606	Homo sapiens (human)	4647	MYO7A	inference by association of genotype from phenotype used in manual assertion	PMID:12112664 PMID:8900236 RGD:7240710
DOID:0110827	Usher syndrome type 2	HGNC:12601	Homo sapiens (human)	7399	USH2A	inference by association of genotype from phenotype used in manual assertion	PMID:12112664 PMID:15025721 PMID:17405132 PMID:18665195 PMID:22009552
DOID:0050534	congenital stationary night blindness	HGNC:1393	Homo sapiens (human)	778	CACNA1F	inference by association of genotype from phenotype used in manual assertion	PMID:12111638
DOID:0080326	familial hypertrophic cardiomyopathy	HGNC:7551	Homo sapiens (human)	4607	MYBPC3	inference by association of genotype from phenotype used in manual assertion	PMID:12110947 PMID:16004897 PMID:9048664 PMID:9562578
DOID:0050328	congenital hypothyroidism	HGNC:13273	Homo sapiens (human)	50506	DUOX2	inference by association of genotype from phenotype used in manual assertion	PMID:12110737
DOID:2247	spondylosis	HGNC:6344	Homo sapiens (human)	9365	KL	inference by association of genotype from phenotype used in manual assertion	PMID:12110410
DOID:3907	lung squamous cell carcinoma	HGNC:10801	Homo sapiens (human)	6439	SFTPB	inference by association of genotype from phenotype used in manual assertion	PMID:12107845 PMID:16570259
DOID:3362	coronary aneurysm	HGNC:7158	Homo sapiens (human)	4321	MMP12	inference by association of genotype from phenotype used in manual assertion	PMID:12103254
DOID:2377	multiple sclerosis	HGNC:11920	Homo sapiens (human)	355	FAS	inference by association of genotype from phenotype used in manual assertion	PMID:12098516
DOID:1793	pancreatic cancer	HGNC:6014	Homo sapiens (human)	3565	IL4	mutant phenotype evidence used in manual assertion	PMID:12097255
DOID:10325	silicosis	HGNC:1318	Homo sapiens (human)	718	C3	inference by association of genotype from phenotype used in manual assertion	PMID:12096683
DOID:684	hepatocellular carcinoma	HGNC:1455	Homo sapiens (human)	811	CALR	direct assay evidence used in manual assertion	PMID:12096119
DOID:10763	hypertension	RGD:2703	Rattus norvegicus (Norway rat)	25051	Glp1r	direct assay evidence used in manual assertion	PMID:12093887

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