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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

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Disease ID	Disease Name	Alliance of Genome Resources ID	Species	Gene ID	Gene Symbol	Evidence	References ▲
DOID:1588	thrombocytopenia	HGNC:11283	Homo sapiens (human)	6714	SRC	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111052	Scott syndrome	HGNC:25240	Homo sapiens (human)	196527	ANO6	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:1171	hyperlipoproteinemia type V	HGNC:17288	Homo sapiens (human)	116519	APOA5	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060298	complement component 4b deficiency	HGNC:1324	Homo sapiens (human)	721	C4B	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0112223	developmental and epileptic encephalopathy 89	HGNC:4092	Homo sapiens (human)	2571	GAD1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:2058	chronic mucocutaneous candidiasis	HGNC:18358	Homo sapiens (human)	84818	IL17RC	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:1612	breast cancer	HGNC:1748	Homo sapiens (human)	999	CDH1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110013	advanced sleep phase syndrome 3	HGNC:8847	Homo sapiens (human)	8863	PER3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:13543	hyperparathyroidism	HGNC:1514	Homo sapiens (human)	846	CASR	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060307	autosomal dominant intellectual developmental disorder	HGNC:22474	Homo sapiens (human)	9969	MED13	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060193	amyotrophic lateral sclerosis type 1	HGNC:9461	Homo sapiens (human)	5630	PRPH	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111068	congenital bile acid synthesis defect 4	HGNC:451	Homo sapiens (human)	23600	AMACR	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111743	cerebellar ataxia type 47	HGNC:14957	Homo sapiens (human)	9698	PUM1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:10825	essential hypertension	HGNC:336	Homo sapiens (human)	185	AGTR1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111385	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1	HGNC:12666	Homo sapiens (human)	7415	VCP	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080205	CAKUT	HGNC:8001	Homo sapiens (human)	8204	NRIP1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0112038	non-syndromic X-linked intellectual disability 1	HGNC:29059	Homo sapiens (human)	23096	IQSEC2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070468	Yoon-Bellen neurodevelopmental syndrome	HGNC:25590	Homo sapiens (human)	55753	OGDHL	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080567	congenital disorder of glycosylation Ip	HGNC:32456	Homo sapiens (human)	440138	ALG11	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0112259	Leydig cell hypoplasia	HGNC:6585	Homo sapiens (human)	3973	LHCGR	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110169	Charcot-Marie-Tooth disease axonal type 2P	HGNC:25135	Homo sapiens (human)	90678	LRSAM1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050812	spondyloepimetaphyseal dysplasia, Pakistani type	HGNC:8604	Homo sapiens (human)	9060	PAPSS2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0112216	developmental and epileptic encephalopathy 80	HGNC:8959	Homo sapiens (human)	9488	PIGB	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050776	non-syndromic X-linked intellectual disability	HGNC:2484	Homo sapiens (human)	1478	CSTF2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:12849	autistic disorder	HGNC:14295	Homo sapiens (human)	22941	SHANK2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710

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