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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:0110658	congenital myasthenic syndrome 15	HGNC:28287	Homo sapiens (human)	199857	ALG14	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050426	Stevens-Johnson syndrome	HGNC:4931	Homo sapiens (human)	3105	HLA-A	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:3320	Tay-Sachs disease	HGNC:4878	Homo sapiens (human)	3073	HEXA	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0112081	nuclear type mitochondrial complex I deficiency 8	HGNC:7710	Homo sapiens (human)	4722	NDUFS3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0112310	central precocious puberty 1	HGNC:4510	Homo sapiens (human)	84634	KISS1R	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110015	age related macular degeneration 2	HGNC:34	Homo sapiens (human)	24	ABCA4	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0112170	Noonan syndrome 12	HGNC:17271	Homo sapiens (human)	22800	RRAS2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:1588	thrombocytopenia	HGNC:11795	Homo sapiens (human)	7066	THPO	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:0111691	familial adult myoclonic epilepsy 5	HGNC:2172	Homo sapiens (human)	6900	CNTN2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050629	Aicardi-Goutieres syndrome	HGNC:15925	Homo sapiens (human)	25939	SAMHD1	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:0110435	dilated cardiomyopathy 1GG	HGNC:10680	Homo sapiens (human)	6389	SDHA	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080688	mosaic variegated aneuploidy syndrome	HGNC:17814	Homo sapiens (human)	55719	SLF2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080686	tubular aggregate myopathy 2	HGNC:25896	Homo sapiens (human)	84876	ORAI1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080523	adult-onset leukoencephalopathy with axonal spheroids and pigmented glia	HGNC:2433	Homo sapiens (human)	1436	CSF1R	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110081	arrhythmogenic right ventricular dysplasia 10	HGNC:3049	Homo sapiens (human)	1829	DSG2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060209	amyotrophic lateral sclerosis type 18	HGNC:8881	Homo sapiens (human)	5216	PFN1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:2841	asthma	HGNC:17020	Homo sapiens (human)	11213	IRAK3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050967	spinocerebellar ataxia type 17	HGNC:11588	Homo sapiens (human)	6908	TBP	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110820	hereditary spastic paraplegia 75	HGNC:6783	Homo sapiens (human)	4099	MAG	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111132	focal segmental glomerulosclerosis 7	HGNC:8616	Homo sapiens (human)	5076	PAX2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:7400	Nijmegen breakage syndrome	HGNC:7652	Homo sapiens (human)	4683	NBN	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0081119	benign familial infantile seizures 6	HGNC:1956	Homo sapiens (human)	1135	CHRNA2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0081213	autosomal recessive intellectual developmental disorder 50	HGNC:26114	Homo sapiens (human)	80153	EDC3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710

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