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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:9562	primary ciliary dyskinesia	HGNC:18661	Homo sapiens (human)	56171	DNAH7	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070283	primary autosomal recessive microcephaly 13	HGNC:1856	Homo sapiens (human)	1062	CENPE	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110477	autosomal recessive nonsyndromic deafness 2	HGNC:7606	Homo sapiens (human)	4647	MYO7A	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060746	basal laminar drusen	HGNC:4883	Homo sapiens (human)	3075	CFH	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111377	fetal akinesia deformation sequence syndrome 1	HGNC:7525	Homo sapiens (human)	4593	MUSK	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111078	tibial muscular dystrophy	HGNC:12403	Homo sapiens (human)	7273	TTN	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080584	autosomal dominant Wolfram syndrome	HGNC:12762	Homo sapiens (human)	7466	WFS1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080484	peroxisome biogenesis disorder 10A	HGNC:8858	Homo sapiens (human)	8504	PEX3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050955	spinocerebellar ataxia type 2	HGNC:10555	Homo sapiens (human)	6311	ATXN2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070270	hereditary nonpolyposis colorectal cancer type 8	HGNC:11529	Homo sapiens (human)	4072	EPCAM	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110471	autosomal recessive nonsyndromic deafness 16	HGNC:16035	Homo sapiens (human)	161497	STRC	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111105	maturity-onset diabetes of the young type 8	HGNC:1848	Homo sapiens (human)	1056	CEL	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070423	early onset progressive encephalopathy with brain atrophy and thin corpus callosum	HGNC:11581	Homo sapiens (human)	6904	TBCD	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050773	paraganglioma	HGNC:10680	Homo sapiens (human)	6389	SDHA	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060774	congenital diarrhea	HGNC:16526	Homo sapiens (human)	51703	ACSL5	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:3981	pantothenate kinase-associated neurodegeneration	HGNC:15894	Homo sapiens (human)	80025	PANK2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070371	leukoencephalopathy with vanishing white matter 4	HGNC:3260	Homo sapiens (human)	8890	EIF2B4	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110444	dilated cardiomyopathy 1X	HGNC:3622	Homo sapiens (human)	2218	FKTN	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080260	autosomal recessive spinocerebellar ataxia 26	HGNC:12828	Homo sapiens (human)	7515	XRCC1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111870	nonphotosensitive trichothiodystrophy 7	HGNC:11572	Homo sapiens (human)	6897	TARS1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060307	autosomal dominant intellectual developmental disorder	HGNC:15840	Homo sapiens (human)	9757	KMT2B	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0081364	neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	HGNC:11280	Homo sapiens (human)	8878	SQSTM1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:1588	thrombocytopenia	HGNC:4036	Homo sapiens (human)	2533	FYB1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:9256	colorectal cancer	HGNC:11998	Homo sapiens (human)	7157	TP53	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:9256	colorectal cancer	HGNC:3690	Homo sapiens (human)	2261	FGFR3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710

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