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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 **13926 - 13950** 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:0070208	hereditary lymphedema IC	HGNC:17494	Homo sapiens (human)	57165	GJC2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0090068	giant axonal neuropathy 1	HGNC:4137	Homo sapiens (human)	8139	GAN	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070038	autosomal dominant intellectual developmental disorder 8	HGNC:4584	Homo sapiens (human)	2902	GRIN1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110665	congenital myasthenic syndrome 3B	HGNC:1965	Homo sapiens (human)	1144	CHRND	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110909	inflammatory bowel disease 25	HGNC:5965	Homo sapiens (human)	3588	IL10RB	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0090143	brachyolmia-amelogenesis imperfecta syndrome	HGNC:6716	Homo sapiens (human)	4054	LTBP3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110865	congenital stationary night blindness 1B	HGNC:4598	Homo sapiens (human)	2916	GRM6	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0081150	common variable immunodeficiency 7	HGNC:2336	Homo sapiens (human)	1380	CR2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110648	long QT syndrome 6	HGNC:6242	Homo sapiens (human)	9992	KCNE2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070339	cerebellar hyplasia/atrophy, epilepsy, and global developmental delay	HGNC:15822	Homo sapiens (human)	55074	OXR1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110066	amelogenesis imperfecta type 1G	HGNC:23015	Homo sapiens (human)	54757	FAM20A	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050724	PSPH deficiency	HGNC:9577	Homo sapiens (human)	5723	PSPH	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:3969	papillary thyroid carcinoma	HGNC:7989	Homo sapiens (human)	4893	NRAS	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:612	primary immunodeficiency disease	HGNC:7562	Homo sapiens (human)	4615	MYD88	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060825	Christianson syndrome	HGNC:11079	Homo sapiens (human)	10479	SLC9A6	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080694	Galloway-Mowat syndrome	HGNC:29914	Homo sapiens (human)	57122	NUP107	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111046	platelet-type bleeding disorder 10	HGNC:1663	Homo sapiens (human)	948	CD36	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050984	spinocerebellar ataxia type 37	HGNC:2661	Homo sapiens (human)	1600	DAB1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:11721	glycogen storage disease VII	HGNC:8877	Homo sapiens (human)	5213	PFKM	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080893	Bainbridge-Ropers syndrome	HGNC:29357	Homo sapiens (human)	80816	ASXL3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0112251	Ghosal hematodiaphyseal syndrome	HGNC:11609	Homo sapiens (human)	6916	TBXAS1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:12120	pulmonary alveolar proteinosis	HGNC:10801	Homo sapiens (human)	6439	SFTPB	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111450	progressive myoclonus epilepsy 9	HGNC:6638	Homo sapiens (human)	84823	LMNB2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070526	PLACK syndrome	HGNC:1515	Homo sapiens (human)	831	CAST	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0081219	autosomal recessive intellectual developmental disorder 57	HGNC:15505	Homo sapiens (human)	79143	MBOAT7	inference by association of genotype from phenotype used in manual assertion	RGD:7240710

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