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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 **1026 - 1050** 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:231	motor neuron disease	HGNC:11179	Homo sapiens (human)	6647	SOD1	mutant phenotype evidence used in manual assertion	PMID:11717358
DOID:14503	neuronal ceroid lipofuscinosis	MGI:1860075	Mus musculus (house mouse)	54397	Ppt2	author statement supported by traceable reference	PMID:11717424
DOID:0110731	neuronal ceroid lipofuscinosis 3	MGI:1298204	Mus musculus (house mouse)	19063	Ppt1	author statement supported by traceable reference	PMID:11717424
DOID:9452	steatotic liver disease	HGNC:286	Homo sapiens (human)	154	ADRB2	inference by association of genotype from phenotype used in manual assertion	PMID:11718682
DOID:0060849	osteoporosis-pseudoglioma syndrome	HGNC:6697	Homo sapiens (human)	4041	LRP5	inference by association of genotype from phenotype used in manual assertion	PMID:11719191 PMID:16679074 RGD:7240710
DOID:640	encephalomyelitis	RGD:3752	Rattus norvegicus (Norway rat)	25353	Spp1	direct assay evidence used in manual assertion	PMID:11721059
DOID:2377	multiple sclerosis	HGNC:11255	Homo sapiens (human)	6696	SPP1	direct assay evidence used in manual assertion	PMID:11721059
DOID:0110122	Axenfeld-Rieger syndrome type 3	MGI:88180	Mus musculus (house mouse)	12159	Bmp4	author statement supported by traceable reference	PMID:11722794
DOID:13207	proliferative diabetic retinopathy	HGNC:8824	Homo sapiens (human)	5176	SERPINF1	direct assay evidence used in manual assertion	PMID:11723044
DOID:2566	corneal dystrophy	HGNC:14415	Homo sapiens (human)	6785	ELOVL4	inference by association of genotype from phenotype used in manual assertion	PMID:11726641
DOID:1485	cystic fibrosis	HGNC:1884	Homo sapiens (human)	1080	CFTR	inference by association of genotype from phenotype used in manual assertion	PMID:11732487 PMID:1283149 PMID:1284535 PMID:1370365 PMID:1379413 PMID:1380943 PMID:17099022 PMID:19202204 PMID:2344617 PMID:9254853 PMID:9429141 PMID:9439669 RGD:7240710
DOID:10283	prostate cancer	HGNC:3273	Homo sapiens (human)	8667	EIF3H	inference by association of genotype from phenotype used in manual assertion	PMID:11733359
DOID:12217	Lewy body dementia	HGNC:11138	Homo sapiens (human)	6622	SNCA	mutant phenotype evidence used in manual assertion	PMID:11733371
DOID:2920	membranoproliferative glomerulonephritis	MGI:1855696	Mus musculus (house mouse)	53603	Tslp	author statement supported by traceable reference	PMID:11733384
DOID:2917	cryoglobulinemia	MGI:1855696	Mus musculus (house mouse)	53603	Tslp	author statement supported by traceable reference	PMID:11733384
DOID:2841	asthma	HGNC:7808	Homo sapiens (human)	4803	NGF	direct assay evidence used in manual assertion	PMID:11737043
DOID:2841	asthma	HGNC:8023	Homo sapiens (human)	4908	NTF3	direct assay evidence used in manual assertion	PMID:11737043
DOID:2841	asthma	HGNC:1033	Homo sapiens (human)	627	BDNF	direct assay evidence used in manual assertion	PMID:11737043
DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I	HGNC:17997	Homo sapiens (human)	79147	FKRP	inference by association of genotype from phenotype used in manual assertion	PMID:11741828 PMID:15580560 PMID:16634037 PMID:17113772 PMID:17994539 PMID:18671187 PMID:21296577 RGD:7240710
DOID:0050427	xeroderma pigmentosum	SGD:S000002827	Saccharomyces cerevisiae S288C	852028	RAD30	genetic interaction evidence used in manual assertion	PMID:11743006
DOID:0050427	xeroderma pigmentosum	SGD:S000002827	Saccharomyces cerevisiae S288C	852028	RAD30	sequence similarity evidence used in manual assertion	PMID:11743006
DOID:3910	lung adenocarcinoma	HGNC:6407	Homo sapiens (human)	3845	KRAS	inference by association of genotype from phenotype used in manual assertion	PMID:11745231
DOID:384	Wolff-Parkinson-White syndrome	HGNC:9386	Homo sapiens (human)	51422	PRKAG2	inference by association of genotype from phenotype used in manual assertion	PMID:11748095 RGD:7240710
DOID:1612	breast cancer	HGNC:5975	Homo sapiens (human)	3598	IL13RA2	mutant phenotype evidence used in manual assertion	PMID:11748276 PMID:17438063
DOID:1793	pancreatic cancer	HGNC:5975	Homo sapiens (human)	3598	IL13RA2	mutant phenotype evidence used in manual assertion	PMID:11748276

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