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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 **151 - 175** 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:10763	hypertension	HGNC:13557	Homo sapiens (human)	59272	ACE2	inference by association of genotype from phenotype used in manual assertion	PMID:16459167
DOID:1793	pancreatic cancer	HGNC:795	Homo sapiens (human)	472	ATM	inference by association of genotype from phenotype used in manual assertion	PMID:16520463 PMID:18381943 PMID:19147782
DOID:1588	thrombocytopenia	HGNC:6922	Homo sapiens (human)	4153	MBL2	inference by association of genotype from phenotype used in manual assertion	PMID:18361938
DOID:83	cataract	MGI:104990	Mus musculus (house mouse)	14629	Gclc	author statement supported by traceable reference	PMID:23226398
DOID:0080176	meningococcal meningitis	HGNC:5331	Homo sapiens (human)	64127	NOD2	inference by association of genotype from phenotype used in manual assertion	PMID:23691182
DOID:0111834	X-linked reticulate pigmentary disorder	HGNC:9173	Homo sapiens (human)	5422	POLA1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:2986	IgA glomerulonephritis	HGNC:243	Homo sapiens (human)	118	ADD1	inference by association of genotype from phenotype used in manual assertion	PMID:19838659
DOID:0060490	Schimke immuno-osseous dysplasia	HGNC:11102	Homo sapiens (human)	50485	SMARCAL1	inference by association of genotype from phenotype used in manual assertion	PMID:11799392 RGD:7240710
DOID:0050445	X-linked hypophosphatemic rickets	MGI:107489	Mus musculus (house mouse)	18675	Phex	author statement supported by traceable reference	PMID:11159866 PMID:12414538 PMID:15029877 PMID:15976027 PMID:17710565 PMID:22527485 PMID:22573557 PMID:29735309 PMID:9063736
DOID:3652	Leigh disease	MGI:1913302	Mus musculus (house mouse)	66052	Sdhc	author statement supported by traceable reference	PMID:31469588
DOID:234	colon adenocarcinoma	HGNC:8975	Homo sapiens (human)	5290	PIK3CA	inference by association of genotype from phenotype used in manual assertion	PMID:17575153
DOID:0050741	alcohol dependence	HGNC:8154	Homo sapiens (human)	4986	OPRK1	inference by association of genotype from phenotype used in manual assertion	PMID:16924269 PMID:17622222
DOID:13166	allergic bronchopulmonary aspergillosis	HGNC:6922	Homo sapiens (human)	4153	MBL2	inference by association of genotype from phenotype used in manual assertion	PMID:11474427 PMID:16487239
DOID:8552	chronic myeloid leukemia	HGNC:1014	Homo sapiens (human)	613	BCR	genetic interaction evidence used in manual assertion	PMID:25133686
DOID:10652	Alzheimer's disease	HGNC:7734	Homo sapiens (human)	4741	NEFM	direct assay evidence used in manual assertion	PMID:17687114
DOID:0110649	long QT syndrome 8	HGNC:1390	Homo sapiens (human)	775	CACNA1C	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:14330	Parkinson's disease	HGNC:4947	Homo sapiens (human)	3122	HLA-DRA	inference by association of genotype from phenotype used in manual assertion	PMID:20711177
DOID:0110225	Brugada syndrome 8	HGNC:16882	Homo sapiens (human)	10021	HCN4	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050632	oculocutaneous albinism	HGNC:12450	Homo sapiens (human)	7306	TYRP1	inference by association of genotype from phenotype used in manual assertion	PMID:8651291
DOID:3803	Crigler-Najjar syndrome	RGD:3935	Rattus norvegicus (Norway rat)	24861	Ugt1a1	mutant phenotype evidence used in manual assertion	PMID:22765254
DOID:1909	melanoma	HGNC:11850	Homo sapiens (human)	7099	TLR4	inference by association of genotype from phenotype used in manual assertion	PMID:22552381
DOID:14330	Parkinson's disease	HGNC:9603	Homo sapiens (human)	5740	PTGIS	mutant phenotype evidence used in manual assertion	PMID:23691265
DOID:12449	aplastic anemia	MGI:107656	Mus musculus (house mouse)	15978	Ifng	author statement supported by traceable reference	PMID:25342713
DOID:0050477	Liddle syndrome	HGNC:10602	Homo sapiens (human)	6340	SCNN1G	inference by association of genotype from phenotype used in manual assertion	PMID:7550319 RGD:7240710
DOID:3908	lung non-small cell carcinoma	HGNC:1957	Homo sapiens (human)	1136	CHRNA3	genetic interaction evidence used in manual assertion	PMID:21747048

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