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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 **126 - 150** 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:2377	multiple sclerosis	HGNC:30308	Homo sapiens (human)	56963	RGMA	inference by association of genotype from phenotype used in manual assertion	PMID:20072140
DOID:3969	papillary thyroid carcinoma	HGNC:7133	Homo sapiens (human)	8085	KMT2D	inference by association of genotype from phenotype used in manual assertion	PMID:32024448
DOID:0110823	hereditary spastic paraplegia 8	HGNC:28984	Homo sapiens (human)	9897	WASHC5	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:1936	atherosclerosis	HGNC:613	Homo sapiens (human)	348	APOE	mutant phenotype evidence used in manual assertion	PMID:7593602
DOID:5453	pulmonary venoocclusive disease	RGD:61997	Rattus norvegicus (Norway rat)	29553	Kcnk3	direct assay evidence used in manual assertion	PMID:32209028
DOID:13641	exfoliation syndrome	HGNC:11850	Homo sapiens (human)	7099	TLR4	inference by association of genotype from phenotype used in manual assertion	PMID:22831837
DOID:0081426	autosomal recessive distal hereditary motor neuronopathy 7	HGNC:30910	Homo sapiens (human)	64856	VWA1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:1059	intellectual disability	HGNC:7871	Homo sapiens (human)	4841	NONO	inference by association of genotype from phenotype used in manual assertion	PMID:26571461 PMID:36653413
DOID:0050908	myelodysplastic syndrome	MGI:1921494	Mus musculus (house mouse)	74244	Atg7	author statement supported by traceable reference	PMID:21339326
DOID:3748	esophagus squamous cell carcinoma	HGNC:1101	Homo sapiens (human)	675	BRCA2	inference by association of genotype from phenotype used in manual assertion	PMID:21279724
DOID:10763	hypertension	HGNC:11180	Homo sapiens (human)	6648	SOD2	direct assay evidence used in manual assertion	PMID:16716903
DOID:0050589	inflammatory bowel disease	MGI:104798	Mus musculus (house mouse)	21926	Tnf	author statement supported by traceable reference	PMID:10204494 PMID:18439426 PMID:23977107 PMID:23977323
DOID:6432	pulmonary hypertension	HGNC:812	Homo sapiens (human)	488	ATP2A2	direct assay evidence used in manual assertion	PMID:23804254
DOID:2975	cystic kidney disease	MGI:2384917	Mus musculus (house mouse)	216274	Cep290	author statement supported by traceable reference	MGI:5284969
DOID:0070387	developmental and epileptic encephalopathy 101	HGNC:4584	Homo sapiens (human)	2902	GRIN1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080946	retinal dystrophy with leukodystrophy	HGNC:23338	Homo sapiens (human)	91452	ACBD5	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:3770	pulmonary fibrosis	HGNC:10802	Homo sapiens (human)	6440	SFTPC	inference by association of genotype from phenotype used in manual assertion	PMID:20656946
DOID:8683	myeloid sarcoma	HGNC:6407	Homo sapiens (human)	3845	KRAS	mutant phenotype evidence used in manual assertion	PMID:23564351
DOID:0110654	long QT syndrome 13	HGNC:6266	Homo sapiens (human)	3762	KCNJ5	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050475	Weill-Marchesani syndrome	MGI:95489	Mus musculus (house mouse)	14118	Fbn1	author statement supported by traceable reference	PMID:22242013
DOID:1827	generalized epilepsy	HGNC:16882	Homo sapiens (human)	10021	HCN4	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:1612	breast cancer	HGNC:11896	Homo sapiens (human)	7128	TNFAIP3	mutant phenotype evidence used in manual assertion	PMID:28892081
DOID:0060977	polycystic liver disease 4	HGNC:6697	Homo sapiens (human)	4041	LRP5	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:1024	leprosy	HGNC:11848	Homo sapiens (human)	7097	TLR2	inference by association of genotype from phenotype used in manual assertion	PMID:18177245 RGD:7240710
DOID:11830	myopia	HGNC:8547	Homo sapiens (human)	8974	P4HA2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710

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