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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 **2601 - 2625** 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:3827	congenital diaphragmatic hernia	HGNC:9091	Homo sapiens (human)	5358	PLS3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:4195	hyperglycemia	SGD:S000000545	Saccharomyces cerevisiae S288C	850317	GLK1	genetic interaction evidence used in manual assertion	PMID:37101203
DOID:552	pneumonia	HGNC:6000	Homo sapiens (human)	3557	IL1RN	inference by association of genotype from phenotype used in manual assertion	PMID:18838927
DOID:1338	congenital dyserythropoietic anemia	HGNC:9804	Homo sapiens (human)	29127	RACGAP1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:9352	type 2 diabetes mellitus	RGD:3249	Rattus norvegicus (Norway rat)	24617	Serpine1	direct assay evidence used in manual assertion	PMID:14614217
DOID:5844	myocardial infarction	HGNC:8744	Homo sapiens (human)	5126	PCSK2	inference by association of genotype from phenotype used in manual assertion	PMID:20036365
DOID:9970	obesity	MGI:104963	Mus musculus (house mouse)	18166	Npy1r	author statement supported by traceable reference	PMID:14525913
DOID:4195	hyperglycemia	HGNC:11179	Homo sapiens (human)	6647	SOD1	mutant phenotype evidence used in manual assertion	PMID:17272778
DOID:784	chronic kidney disease	RGD:2072	Rattus norvegicus (Norway rat)	24182	Agtr2	mutant phenotype evidence used in manual assertion	PMID:12089373
DOID:1229	paranoid schizophrenia	HGNC:6292	Homo sapiens (human)	3782	KCNN3	inference by association of genotype from phenotype used in manual assertion	PMID:12007452
DOID:0080202	adenoid cystic carcinoma	HGNC:13726	Homo sapiens (human)	58508	KMT2C	inference by association of genotype from phenotype used in manual assertion	PMID:31483290
DOID:9352	type 2 diabetes mellitus	MGI:2153588	Mus musculus (house mouse)	140491	Ppp1r3a	author statement supported by traceable reference	PMID:12606498
DOID:0060041	autism spectrum disorder	MGI:1277959	Mus musculus (house mouse)	13385	Dlg4	author statement supported by traceable reference	PMID:20952458
DOID:11446	sciatic neuropathy	HGNC:6000	Homo sapiens (human)	3557	IL1RN	direct assay evidence used in manual assertion	PMID:12574433
DOID:10763	hypertension	HGNC:8125	Homo sapiens (human)	4968	OGG1	inference by association of genotype from phenotype used in manual assertion	PMID:25529925
DOID:10595	Charcot-Marie-Tooth disease	HGNC:9118	Homo sapiens (human)	5376	PMP22	inference by association of genotype from phenotype used in manual assertion	PMID:9040744 RGD:7240710
DOID:10754	otitis media	MGI:1337104	Mus musculus (house mouse)	14051	Eya4	author statement supported by traceable reference	PMID:18219393
DOID:0090117	thiamine-responsive megaloblastic anemia syndrome	HGNC:10938	Homo sapiens (human)	10560	SLC19A2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:12361	Graves' disease	HGNC:2505	Homo sapiens (human)	1493	CTLA4	inference by association of genotype from phenotype used in manual assertion	PMID:10369864 PMID:10404810 PMID:12780750 PMID:14986169 PMID:15785242 PMID:20352109 PMID:9672157
DOID:0081120	Graves ophthalmopathy	HGNC:19100	Homo sapiens (human)	149233	IL23R	inference by association of genotype from phenotype used in manual assertion	PMID:18073300
DOID:9743	diabetic neuropathy	RGD:3870	Rattus norvegicus (Norway rat)	29260	Tlr4	direct assay evidence used in manual assertion	PMID:22910613
DOID:0050957	spinocerebellar ataxia type 4	HGNC:777	Homo sapiens (human)	463	ZFHX3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060001	withdrawal disorder	HGNC:4092	Homo sapiens (human)	2571	GAD1	inference by association of genotype from phenotype used in manual assertion	PMID:19111404
DOID:4371	Schnitzler syndrome	HGNC:5991	Homo sapiens (human)	3552	IL1A	direct assay evidence used in manual assertion	PMID:1831824
DOID:1596	depressive disorder	HGNC:11050	Homo sapiens (human)	6532	SLC6A4	direct assay evidence used in manual assertion	PMID:20808944

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