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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:0080494	ovarian dysgenesis 2	HGNC:1068	Homo sapiens (human)	9210	BMP15	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110839	Usher syndrome type 2C	HGNC:17416	Homo sapiens (human)	84059	ADGRV1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:11830	myopia	HGNC:6701	Homo sapiens (human)	4043	LRPAP1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:3649	pyruvate decarboxylase deficiency	HGNC:21350	Homo sapiens (human)	8050	PDHX	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060733	junctional epidermolysis bullosa with pyloric atresia	HGNC:6158	Homo sapiens (human)	3691	ITGB4	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111722	amelogenesis imperfecta type 3C	HGNC:13764	Homo sapiens (human)	84957	RELT	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080732	Ehlers-Danlos syndrome classic-like 2	HGNC:303	Homo sapiens (human)	165	AEBP1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070296	primary autosomal recessive microcephaly	HGNC:8766	Homo sapiens (human)	10015	PDCD6IP	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080533	Carney-Stratakis syndrome	HGNC:10683	Homo sapiens (human)	6392	SDHD	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080663	atrial standstill 2	HGNC:7939	Homo sapiens (human)	4878	NPPA	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111465	combined oxidative phosphorylation deficiency 21	HGNC:30740	Homo sapiens (human)	80222	TARS2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110433	dilated cardiomyopathy 1E	HGNC:10593	Homo sapiens (human)	6331	SCN5A	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050540	Charcot-Marie-Tooth disease type 3	HGNC:9118	Homo sapiens (human)	5376	PMP22	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110859	polycystic kidney disease 2	HGNC:9009	Homo sapiens (human)	5311	PKD2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070146	hereditary sensory neuropathy type 4	HGNC:8031	Homo sapiens (human)	4914	NTRK1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111386	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3	HGNC:5031	Homo sapiens (human)	3178	HNRNPA1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060272	pontocerebellar hypoplasia type 3	HGNC:13406	Homo sapiens (human)	27445	PCLO	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111651	ectodermal dysplasia 15	HGNC:2478	Homo sapiens (human)	1474	CST6	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070471	early-onset epilepsy 2	HGNC:29010	Homo sapiens (human)	9739	SETD1A	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111363	Heinz body anemia	HGNC:4823	Homo sapiens (human)	3039	HBA1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:1441	autosomal dominant cerebellar ataxia	HGNC:1349	Homo sapiens (human)	219285	SAMD9L	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110459	dilated cardiomyopathy 1FF	HGNC:11947	Homo sapiens (human)	7137	TNNI3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0081401	autosomal dominant distal hereditary motor neuronopathy 13	HGNC:15832	Homo sapiens (human)	26580	BSCL2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:10933	obsessive-compulsive disorder	HGNC:5293	Homo sapiens (human)	3356	HTR2A	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110031	hemoglobin H disease	HGNC:4824	Homo sapiens (human)	3040	HBA2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710

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