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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:0050489	multinodular goiter	HGNC:17098	Homo sapiens (human)	23405	DICER1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070074	autosomal dominant intellectual developmental disorder 44	HGNC:12303	Homo sapiens (human)	7204	TRIO	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060307	autosomal dominant intellectual developmental disorder	HGNC:4571	Homo sapiens (human)	2890	GRIA1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060884	renal hypomagnesemia 6	HGNC:103	Homo sapiens (human)	54805	CNNM2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060462	Desbuquois dysplasia	HGNC:19721	Homo sapiens (human)	124583	CANT1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:5426	primary ovarian insufficiency	HGNC:26520	Homo sapiens (human)	147872	KASH5	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060807	syndromic X-linked intellectual disability Najm type	HGNC:1497	Homo sapiens (human)	8573	CASK	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060354	Stormorken syndrome	HGNC:11386	Homo sapiens (human)	6786	STIM1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060898	Parkinson's disease 20	HGNC:11503	Homo sapiens (human)	8867	SYNJ1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:1588	thrombocytopenia	HGNC:9673	Homo sapiens (human)	5795	PTPRJ	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0081202	autosomal recessive intellectual developmental disorder 37	HGNC:494	Homo sapiens (human)	288	ANK3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060301	type I complement component 8 deficiency	HGNC:1352	Homo sapiens (human)	731	C8A	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:9352	type 2 diabetes mellitus	HGNC:4456	Homo sapiens (human)	2820	GPD2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:9562	primary ciliary dyskinesia	HGNC:12760	Homo sapiens (human)	54014	BRWD1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080394	nephrotic syndrome type 19	HGNC:18017	Homo sapiens (human)	23279	NUP160	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:4249	Gerstmann-Straussler-Scheinker syndrome	HGNC:9449	Homo sapiens (human)	5621	PRNP	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080206	CAKUT1	HGNC:29043	Homo sapiens (human)	25778	DSTYK	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070170	spermatogenic failure 19	HGNC:26684	Homo sapiens (human)	80217	CFAP43	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:399	tuberculosis	HGNC:1641	Homo sapiens (human)	30835	CD209	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111917	spermatogenic failure 43	HGNC:26293	Homo sapiens (human)	79925	SPEF2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111693	familial adult myoclonic epilepsy 4	HGNC:25489	Homo sapiens (human)	55689	YEATS2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0081271	Smith-McCort dysplasia 2	HGNC:16075	Homo sapiens (human)	83452	RAB33B	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110342	osteogenesis imperfecta type 13	HGNC:1067	Homo sapiens (human)	649	BMP1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111407	Fraser syndrome 2	HGNC:25396	Homo sapiens (human)	341640	FREM2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060307	autosomal dominant intellectual developmental disorder	HGNC:16639	Homo sapiens (human)	23524	SRRM2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710

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