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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 **13026 - 13050** 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:8552	chronic myeloid leukemia	HGNC:76	Homo sapiens (human)	25	ABL1	inference by association of genotype from phenotype used in manual assertion	PMID:12067277 PMID:23289634 PMID:3021820 RGD:7240710
DOID:8552	chronic myeloid leukemia	HGNC:1014	Homo sapiens (human)	613	BCR	inference by association of genotype from phenotype used in manual assertion	PMID:12067277 PMID:1362728 PMID:2683759 PMID:3101769 PMID:7683349 RGD:7240710
DOID:13636	Fanconi anemia	HGNC:1101	Homo sapiens (human)	675	BRCA2	inference by association of genotype from phenotype used in manual assertion	PMID:12065746
DOID:0110922	familial hemophagocytic lymphohistiocytosis 2	HGNC:9360	Homo sapiens (human)	5551	PRF1	inference by association of genotype from phenotype used in manual assertion	PMID:12060139 RGD:7240710
DOID:0110731	neuronal ceroid lipofuscinosis 3	MGI:103555	Mus musculus (house mouse)	12725	Clcn3	author statement supported by traceable reference	PMID:12059962
DOID:0080548	Noonan syndrome with multiple lentigines 1	HGNC:9644	Homo sapiens (human)	5781	PTPN11	inference by association of genotype from phenotype used in manual assertion	PMID:12058348 PMID:15121796 PMID:15520399 RGD:7240710
DOID:2773	contact dermatitis	HGNC:6953	Homo sapiens (human)	4179	CD46	mutant phenotype evidence used in manual assertion	PMID:12055630
DOID:10763	hypertension	HGNC:5217	Homo sapiens (human)	3283	HSD3B1	inference by association of genotype from phenotype used in manual assertion	PMID:12054649
DOID:2394	ovarian cancer	HGNC:3192	Homo sapiens (human)	1917	EEF1A2	inference by association of genotype from phenotype used in manual assertion	PMID:12053177
DOID:12716	newborn respiratory distress syndrome	MGI:103178	Mus musculus (house mouse)	22339	Vegfa	author statement supported by traceable reference	PMID:12053176
DOID:2842	Jervell-Lange Nielsen syndrome	HGNC:6294	Homo sapiens (human)	3784	KCNQ1	inference by association of genotype from phenotype used in manual assertion	PMID:12051962 RGD:7240710
DOID:9074	systemic lupus erythematosus	HGNC:10305	Homo sapiens (human)	9045	RPL14	direct assay evidence used in manual assertion	PMID:12051391
DOID:12577	urethral obstruction	HGNC:2594	Homo sapiens (human)	1588	CYP19A1	mutant phenotype evidence used in manual assertion	PMID:12050560
DOID:12361	Graves' disease	HGNC:4187	Homo sapiens (human)	2638	GC	inference by association of genotype from phenotype used in manual assertion	PMID:12050214 PMID:16868893
DOID:5844	myocardial infarction	HGNC:9603	Homo sapiens (human)	5740	PTGIS	inference by association of genotype from phenotype used in manual assertion	PMID:12040339 PMID:19040046 PMID:19046748 PMID:19327107
DOID:2030	anxiety disorder	RGD:2846	Rattus norvegicus (Norway rat)	25075	Htr1b	direct assay evidence used in manual assertion	PMID:12040062
DOID:2394	ovarian cancer	HGNC:2228	Homo sapiens (human)	1312	COMT	inference by association of genotype from phenotype used in manual assertion	PMID:12036914
DOID:0050771	pheochromocytoma	RGD:69062	Rattus norvegicus (Norway rat)	83571	Cdkn1b	inference by association of genotype from phenotype used in manual assertion	PMID:12036912
DOID:3829	pituitary adenoma	RGD:69062	Rattus norvegicus (Norway rat)	83571	Cdkn1b	inference by association of genotype from phenotype used in manual assertion	PMID:12036912
DOID:0050773	paraganglioma	RGD:69062	Rattus norvegicus (Norway rat)	83571	Cdkn1b	inference by association of genotype from phenotype used in manual assertion	PMID:12036912
DOID:3125	multiple endocrine neoplasia	RGD:69062	Rattus norvegicus (Norway rat)	83571	Cdkn1b	inference by association of genotype from phenotype used in manual assertion	PMID:12036912 PMID:17030811
DOID:83	cataract	RGD:69062	Rattus norvegicus (Norway rat)	83571	Cdkn1b	inference by association of genotype from phenotype used in manual assertion	PMID:12036912 PMID:17030811
DOID:896	metal metabolism disorder	HGNC:17995	Homo sapiens (human)	140803	TRPM6	inference by association of genotype from phenotype used in manual assertion	PMID:12032568
DOID:0110429	dilated cardiomyopathy 1H	HGNC:2592	Homo sapiens (human)	1585	CYP11B2	inference by association of genotype from phenotype used in manual assertion	PMID:12031704
DOID:3770	pulmonary fibrosis	HGNC:11892	Homo sapiens (human)	7124	TNF	inference by association of genotype from phenotype used in manual assertion	PMID:12030733

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