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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 **9901 - 9925** 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:0070096	oculocutaneous albinism type II	HGNC:6929	Homo sapiens (human)	4157	MC1R	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070511	polyhydramnios, megalencephaly, and symptomatic epilepsy	HGNC:30172	Homo sapiens (human)	92335	STRADA	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:332	amyotrophic lateral sclerosis	HGNC:4601	Homo sapiens (human)	2896	GRN	inference by association of genotype from phenotype used in manual assertion	PMID:18184915
DOID:4914	esophagus adenocarcinoma	HGNC:2594	Homo sapiens (human)	1588	CYP19A1	inference by association of genotype from phenotype used in manual assertion	PMID:21472143
DOID:1485	cystic fibrosis	HGNC:1884	Homo sapiens (human)	1080	CFTR	inference by association of genotype from phenotype used in manual assertion	PMID:11732487 PMID:1283149 PMID:1284535 PMID:1370365 PMID:1379413 PMID:1380943 PMID:17099022 PMID:19202204 PMID:2344617 PMID:9254853 PMID:9429141 PMID:9439669 RGD:7240710
DOID:0081343	congenital myopathy 9A	HGNC:4023	Homo sapiens (human)	8087	FXR1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:11054	urinary bladder cancer	HGNC:11904	Homo sapiens (human)	8797	TNFRSF10A	inference by association of genotype from phenotype used in manual assertion	PMID:16217763
DOID:1793	pancreatic cancer	HGNC:6724	Homo sapiens (human)	4060	LUM	inference by association of genotype from phenotype used in manual assertion	PMID:19843670
DOID:0070520	peeling skin syndrome 1	HGNC:1802	Homo sapiens (human)	1041	CDSN	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110245	cataract 38	HGNC:21869	Homo sapiens (human)	55750	AGK	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0112152	CHIME syndrome	HGNC:8966	Homo sapiens (human)	9487	PIGL	inference by association of genotype from phenotype used in manual assertion	PMID:22444671 RGD:7240710
DOID:3312	bipolar disorder	HGNC:701	Homo sapiens (human)	406	BMAL1	inference by association of genotype from phenotype used in manual assertion	PMID:30121446
DOID:0070572	spermatogenic failure 73	HGNC:7201	Homo sapiens (human)	54456	MOV10L1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111384	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2	HGNC:5033	Homo sapiens (human)	3181	HNRNPA2B1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:13359	Ehlers-Danlos syndrome	HGNC:218	Homo sapiens (human)	9509	ADAMTS2	inference by association of genotype from phenotype used in manual assertion	PMID:10417273
DOID:2256	osteochondrodysplasia	HGNC:6597	Homo sapiens (human)	3977	LIFR	inference by association of genotype from phenotype used in manual assertion	PMID:14740318
DOID:2841	asthma	HGNC:5998	Homo sapiens (human)	9173	IL1RL1	inference by association of genotype from phenotype used in manual assertion	PMID:19198610 PMID:19852851 PMID:21150878 PMID:21281963
DOID:0111046	platelet-type bleeding disorder 10	HGNC:1663	Homo sapiens (human)	948	CD36	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:1564	fungal infectious disease	HGNC:6922	Homo sapiens (human)	4153	MBL2	inference by association of genotype from phenotype used in manual assertion	PMID:24886325
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: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:0070569	spermatogenic failure 70	HGNC:8807	Homo sapiens (human)	5161	PDHA2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060366	Hennekam syndrome	HGNC:29426	Homo sapiens (human)	147372	CCBE1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110841	Usher syndrome type 3A	HGNC:12605	Homo sapiens (human)	7401	CLRN1	inference by association of genotype from phenotype used in manual assertion	PMID:12145752 RGD:7240710
DOID:1882	atrial heart septal defect	HGNC:1071	Homo sapiens (human)	652	BMP4	inference by association of genotype from phenotype used in manual assertion	PMID:25022354

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