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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 **526 - 550** 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:3319	lymphangioleiomyomatosis	HGNC:12363	Homo sapiens (human)	7249	TSC2	inference by association of genotype from phenotype used in manual assertion	PMID:10823953 PMID:20639436 RGD:7240710
DOID:3146	lipid metabolism disorder	HGNC:9232	Homo sapiens (human)	5465	PPARA	inference by association of genotype from phenotype used in manual assertion	PMID:10828087
DOID:3070	high grade glioma	RGD:2802	Rattus norvegicus (Norway rat)	25459	Hmgb1	mutant phenotype evidence used in manual assertion	PMID:10830965
DOID:1227	neutropenia	HGNC:2434	Homo sapiens (human)	1437	CSF2	direct assay evidence used in manual assertion	PMID:10832225
DOID:4621	holoprosencephaly	HGNC:11776	Homo sapiens (human)	7050	TGIF1	inference by association of genotype from phenotype used in manual assertion	PMID:10835638
DOID:2738	pseudoxanthoma elasticum	HGNC:57	Homo sapiens (human)	368	ABCC6	inference by association of genotype from phenotype used in manual assertion	PMID:10835643 PMID:11692167 PMID:12714611 PMID:15459974 PMID:16392638 PMID:16835894 PMID:17617515 RGD:7240710
DOID:2752	glycogen storage disease II	MGI:95609	Mus musculus (house mouse)	14387	Gaa	author statement supported by traceable reference	PMID:10838256 PMID:9384603 PMID:9668092
DOID:0110703	hypotrichosis 6	MGI:2661061	Mus musculus (house mouse)	16769	Dsg4	author statement supported by traceable reference	PMID:10839719 PMID:8752833
DOID:11949	Creutzfeldt-Jakob disease	HGNC:11433	Homo sapiens (human)	6804	STX1A	direct assay evidence used in manual assertion	PMID:10842016
DOID:1520	colon carcinoma	HGNC:3766	Homo sapiens (human)	2323	FLT3LG	mutant phenotype evidence used in manual assertion	PMID:10842197
DOID:576	proteinuria	RGD:2493	Rattus norvegicus (Norway rat)	24310	Ace	mutant phenotype evidence used in manual assertion	PMID:10844603
DOID:13208	background diabetic retinopathy	HGNC:7	Homo sapiens (human)	2	A2M	direct assay evidence used in manual assertion	PMID:10848441
DOID:7693	abdominal aortic aneurysm	HGNC:613	Homo sapiens (human)	348	APOE	inference by association of genotype from phenotype used in manual assertion	PMID:10848855
DOID:3083	chronic obstructive pulmonary disease	HGNC:16	Homo sapiens (human)	12	SERPINA3	inference by association of genotype from phenotype used in manual assertion	PMID:10849024 PMID:8244391
DOID:9970	obesity	HGNC:7958	Homo sapiens (human)	4889	NPY5R	inference by association of genotype from phenotype used in manual assertion	PMID:10849579 PMID:23900445
DOID:14021	Tietze's syndrome	HGNC:7105	Homo sapiens (human)	4286	MITF	inference by association of genotype from phenotype used in manual assertion	PMID:10851256
DOID:0110263	cataract 19 multiple types	MGI:104698	Mus musculus (house mouse)	233187	Lim2	author statement supported by traceable reference	PMID:10851259 PMID:9238094
DOID:14264	benign neonatal seizures	HGNC:6297	Homo sapiens (human)	3786	KCNQ3	inference by association of genotype from phenotype used in manual assertion	PMID:10852552 PMID:9425900 RGD:7240710
DOID:14264	benign neonatal seizures	MGI:1309503	Mus musculus (house mouse)	16536	Kcnq2	author statement supported by traceable reference	PMID:10854243 PMID:18483067
DOID:4248	coronary stenosis	HGNC:3176	Homo sapiens (human)	1906	EDN1	direct assay evidence used in manual assertion	PMID:10854676
DOID:676	juvenile rheumatoid arthritis	HGNC:10907	Homo sapiens (human)	6556	SLC11A1	inference by association of genotype from phenotype used in manual assertion	PMID:10857800
DOID:8947	diabetic retinopathy	HGNC:333	Homo sapiens (human)	183	AGT	inference by association of genotype from phenotype used in manual assertion	PMID:10862638
DOID:9538	multiple myeloma	HGNC:11919	Homo sapiens (human)	958	CD40	mutant phenotype evidence used in manual assertion	PMID:10866315
DOID:0060646	congenital chylothorax	MGI:104756	Mus musculus (house mouse)	104099	Itga9	author statement supported by traceable reference	PMID:10866676
DOID:0080000	muscular disease	HGNC:2330	Homo sapiens (human)	1376	CPT2	inference by association of genotype from phenotype used in manual assertion	PMID:10873395

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