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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 **601 - 625** 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:0060868	leukoencephalopathy with vanishing white matter	MGI:95300	Mus musculus (house mouse)	13667	Eif2b4	author statement supported by traceable reference	PMID:26974157
DOID:0090140	cortisone reductase deficiency 2	MGI:103562	Mus musculus (house mouse)	15483	Hsd11b1	author statement supported by traceable reference	MGI:85353 PMID:11546766 PMID:9405715
DOID:612	primary immunodeficiency disease	HGNC:11408	Homo sapiens (human)	6789	STK4	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:13628	favism	HGNC:4057	Homo sapiens (human)	2539	G6PD	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:5082	liver cirrhosis	HGNC:4942	Homo sapiens (human)	3117	HLA-DQA1	inference by association of genotype from phenotype used in manual assertion	PMID:17845309 PMID:23321320
DOID:0081023	retinal cone dystrophy 4	HGNC:20202	Homo sapiens (human)	93589	CACNA2D4	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:14080	glucocorticoid-remediable aldosteronism	HGNC:2591	Homo sapiens (human)	1584	CYP11B1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:14227	azoospermia	RGD:1308135	Rattus norvegicus (Norway rat)	361722	Bscl2	mutant phenotype evidence used in manual assertion	PMID:25934999
DOID:9119	acute myeloid leukemia	HGNC:11761	Homo sapiens (human)	7980	TFPI2	inference by association of genotype from phenotype used in manual assertion	PMID:22052167
DOID:2841	asthma	RGD:2070	Rattus norvegicus (Norway rat)	24180	Agtr1a	mutant phenotype evidence used in manual assertion	PMID:19080339
DOID:219	colon cancer	HGNC:393	Homo sapiens (human)	10000	AKT3	direct assay evidence used in manual assertion	PMID:20811704
DOID:2921	glomerulonephritis	MGI:105937	Mus musculus (house mouse)	12630	Cfi	author statement supported by traceable reference	PMID:34149444
DOID:0050834	CHARGE syndrome	HGNC:20626	Homo sapiens (human)	55636	CHD7	inference by association of genotype from phenotype used in manual assertion	PMID:18073582 PMID:18445044 PMID:20624498 PMID:22033296 PMID:23333604 RGD:7240710
DOID:0080450	developmental and epileptic encephalopathy 17	MGI:95775	Mus musculus (house mouse)	14681	Gnao1	author statement supported by traceable reference	PMID:24700286 PMID:30682176
DOID:12930	dilated cardiomyopathy	MGI:98330	Mus musculus (house mouse)	20613	Snai1	author statement supported by traceable reference	PMID:17512504
DOID:6432	pulmonary hypertension	HGNC:3374	Homo sapiens (human)	2034	EPAS1	inference by association of genotype from phenotype used in manual assertion	PMID:18650473
DOID:2300	spondylolysis	HGNC:10994	Homo sapiens (human)	1836	SLC26A2	inference by association of genotype from phenotype used in manual assertion	PMID:26077908
DOID:0060764	autosomal recessive Robinow syndrome	HGNC:10257	Homo sapiens (human)	4920	ROR2	inference by association of genotype from phenotype used in manual assertion	PMID:24932600 RGD:7240710
DOID:0110569	autosomal dominant nonsyndromic deafness 44	HGNC:18111	Homo sapiens (human)	152137	CCDC50	inference by association of genotype from phenotype used in manual assertion	PMID:17503326 RGD:7240710
DOID:557	kidney disease	MGI:88454	Mus musculus (house mouse)	12826	Col4a1	author statement supported by traceable reference	PMID:26260163
DOID:3827	congenital diaphragmatic hernia	RGD:2072	Rattus norvegicus (Norway rat)	24182	Agtr2	mutant phenotype evidence used in manual assertion	PMID:22113494
DOID:83	cataract	RGD:2092	Rattus norvegicus (Norway rat)	24192	Akr1b1	mutant phenotype evidence used in manual assertion	PMID:18452283
DOID:8398	osteoarthritis	HGNC:9201	Homo sapiens (human)	5443	POMC	mutant phenotype evidence used in manual assertion	PMID:21378032
DOID:0111220	centronuclear myopathy 2	HGNC:1052	Homo sapiens (human)	274	BIN1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:11870	Pick's disease	HGNC:6893	Homo sapiens (human)	4137	MAPT	inference by association of genotype from phenotype used in manual assertion	RGD:7240710

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