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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 **13826 - 13850** 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:0110199	Charcot-Marie-Tooth disease dominant intermediate C	HGNC:12840	Homo sapiens (human)	8565	YARS1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080448	developmental and epileptic encephalopathy 48	HGNC:567	Homo sapiens (human)	8120	AP3B2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080393	nephrotic syndrome type 18	HGNC:18016	Homo sapiens (human)	55746	NUP133	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110731	neuronal ceroid lipofuscinosis 3	HGNC:2074	Homo sapiens (human)	1201	CLN3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111530	linear nevus sebaceous syndrome	HGNC:7989	Homo sapiens (human)	4893	NRAS	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111096	Fanconi anemia complementation group O	HGNC:9820	Homo sapiens (human)	5889	RAD51C	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050571	congenital disorder of glycosylation type II	HGNC:4124	Homo sapiens (human)	2590	GALNT2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060307	autosomal dominant intellectual developmental disorder	HGNC:5035	Homo sapiens (human)	3183	HNRNPC	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111186	myopathy, lactic acidosis, and sideroblastic anemia 2	HGNC:24249	Homo sapiens (human)	51067	YARS2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111071	congenital bile acid synthesis defect 1	HGNC:18324	Homo sapiens (human)	80270	HSD3B7	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060307	autosomal dominant intellectual developmental disorder	HGNC:29284	Homo sapiens (human)	57609	DIP2B	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050717	methylmalonic aciduria and homocystinuria type cblF	HGNC:23038	Homo sapiens (human)	55788	LMBRD1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0112140	retinitis pigmentosa 83	HGNC:694	Homo sapiens (human)	403	ARL3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080046	Stickler syndrome	HGNC:2217	Homo sapiens (human)	1297	COL9A1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060684	autosomal dominant nocturnal frontal lobe epilepsy 3	HGNC:1962	Homo sapiens (human)	1141	CHRNB2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060349	microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	HGNC:6388	Homo sapiens (human)	3832	KIF11	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111330	combined saposin deficiency	HGNC:9498	Homo sapiens (human)	5660	PSAP	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110460	dilated cardiomyopathy 2A	HGNC:11947	Homo sapiens (human)	7137	TNNI3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070182	spermatogenic failure 13	HGNC:11538	Homo sapiens (human)	6875	TAF4B	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060546	Hermansky-Pudlak syndrome 8	HGNC:20914	Homo sapiens (human)	388552	BLOC1S3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060449	gelatinous drop-like corneal dystrophy	HGNC:11530	Homo sapiens (human)	4070	TACSTD2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110813	hereditary spastic paraplegia 62	HGNC:16947	Homo sapiens (human)	10613	ERLIN1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060369	Parkinson's disease 6	HGNC:14581	Homo sapiens (human)	65018	PINK1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060276	pontocerebellar hypoplasia type 7	HGNC:15954	Homo sapiens (human)	114034	TOE1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110566	autosomal dominant nonsyndromic deafness 40	HGNC:2418	Homo sapiens (human)	1428	CRYM	inference by association of genotype from phenotype used in manual assertion	RGD:7240710

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