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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:9074	systemic lupus erythematosus	HGNC:2956	Homo sapiens (human)	1773	DNASE1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080301	atypical hemolytic-uremic syndrome	HGNC:16980	Homo sapiens (human)	10878	CFHR3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111498	combined oxidative phosphorylation deficiency 22	HGNC:823	Homo sapiens (human)	498	ATP5F1A	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111953	immunodeficiency 23	HGNC:8907	Homo sapiens (human)	5238	PGM3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111997	immunodeficiency 63	HGNC:6009	Homo sapiens (human)	3560	IL2RB	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080326	familial hypertrophic cardiomyopathy	HGNC:19012	Homo sapiens (human)	10699	CORIN	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080420	developmental and epileptic encephalopathy 62	HGNC:10590	Homo sapiens (human)	6328	SCN3A	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0112250	Gaucher's disease type IIIC	HGNC:4177	Homo sapiens (human)	2629	GBA1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111545	familial male-limited precocious puberty	HGNC:6585	Homo sapiens (human)	3973	LHCGR	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110823	hereditary spastic paraplegia 8	HGNC:28984	Homo sapiens (human)	9897	WASHC5	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111699	Van den Ende-Gupta syndrome	HGNC:19869	Homo sapiens (human)	91179	SCARF2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110310	hypertrophic cardiomyopathy 4	HGNC:7551	Homo sapiens (human)	4607	MYBPC3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070580	spermatogenic failure 81	HGNC:14293	Homo sapiens (human)	64518	TEKT3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070462	mitochondrial complex V (ATP synthase) deficiency nuclear type 4B	HGNC:823	Homo sapiens (human)	498	ATP5F1A	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060450	Lisch epithelial corneal dystrophy	HGNC:13356	Homo sapiens (human)	57192	MCOLN1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060227	Adams-Oliver syndrome	HGNC:7881	Homo sapiens (human)	4851	NOTCH1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070296	primary autosomal recessive microcephaly	HGNC:6637	Homo sapiens (human)	4001	LMNB1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110092	short-rib thoracic dysplasia 6 with or without polydactyly	HGNC:7744	Homo sapiens (human)	4750	NEK1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070037	autosomal dominant intellectual developmental disorder 7	HGNC:3091	Homo sapiens (human)	1859	DYRK1A	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060832	Griscelli syndrome type 1	HGNC:7602	Homo sapiens (human)	4644	MYO5A	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111896	Diamond-Blackfan anemia 18	HGNC:10310	Homo sapiens (human)	6141	RPL18	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110984	Joubert syndrome 15	HGNC:12370	Homo sapiens (human)	95681	CEP41	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080575	Larsen-like syndrome B3GAT3 type	HGNC:923	Homo sapiens (human)	26229	B3GAT3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070537	spastic tetraplegia, thin corpus callosum, and progressive microcephaly	HGNC:10942	Homo sapiens (human)	6509	SLC1A4	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:1324	lung cancer	HGNC:8975	Homo sapiens (human)	5290	PIK3CA	inference by association of genotype from phenotype used in manual assertion	RGD:7240710

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