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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 **13901 - 13925** 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:0110122	Axenfeld-Rieger syndrome type 3	HGNC:3800	Homo sapiens (human)	2296	FOXC1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0112248	17-beta hydroxysteroid dehydrogenase 3 deficiency	HGNC:5212	Homo sapiens (human)	3293	HSD17B3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111353	arthrogryposis, renal dysfunction, and cholestasis 1	HGNC:12712	Homo sapiens (human)	26276	VPS33B	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:14448	46,XY complete gonadal dysgenesis	HGNC:17210	Homo sapiens (human)	57647	DHX37	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110683	congenital myasthenic syndrome 18	HGNC:11132	Homo sapiens (human)	6616	SNAP25	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111890	Diamond-Blackfan anemia 4	HGNC:10397	Homo sapiens (human)	6218	RPS17	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0112214	developmental and epileptic encephalopathy 78	HGNC:4076	Homo sapiens (human)	2555	GABRA2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0081399	autosomal dominant distal hereditary motor neuronopathy 10	HGNC:19880	Homo sapiens (human)	11117	EMILIN1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110809	hereditary spastic paraplegia 57	HGNC:11758	Homo sapiens (human)	10342	TFG	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0081123	X-linked mental retardation Gustavson type	HGNC:9910	Homo sapiens (human)	27316	RBMX	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111913	spermatogenic failure 30	HGNC:20122	Homo sapiens (human)	122402	TDRD9	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060577	3MC syndrome 3	HGNC:2220	Homo sapiens (human)	10584	COLEC10	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111214	autosomal recessive distal hereditary motor neuronopathy 5	HGNC:5228	Homo sapiens (human)	3300	DNAJB2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050571	congenital disorder of glycosylation type II	HGNC:4061	Homo sapiens (human)	2542	SLC37A4	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080572	congenital disorder of glycosylation Iw	HGNC:6172	Homo sapiens (human)	3703	STT3A	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060976	polycystic liver disease 3	HGNC:23161	Homo sapiens (human)	79053	ALG8	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110054	amelogenesis imperfecta type 1A	HGNC:6490	Homo sapiens (human)	3914	LAMB3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060639	permanent neonatal diabetes mellitus	HGNC:59	Homo sapiens (human)	6833	ABCC8	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080038	pycnodysostosis	HGNC:2536	Homo sapiens (human)	1513	CTSK	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050465	Muir-Torre syndrome	HGNC:7325	Homo sapiens (human)	4436	MSH2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:1612	breast cancer	HGNC:391	Homo sapiens (human)	207	AKT1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110482	autosomal recessive nonsyndromic deafness 24	HGNC:9944	Homo sapiens (human)	5962	RDX	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:9256	colorectal cancer	HGNC:2514	Homo sapiens (human)	1499	CTNNB1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080533	Carney-Stratakis syndrome	HGNC:10681	Homo sapiens (human)	6390	SDHB	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111957	immunodeficiency 11A	HGNC:16393	Homo sapiens (human)	84433	CARD11	inference by association of genotype from phenotype used in manual assertion	RGD:7240710

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