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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 **476 - 500** 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:0111789	Frank-Ter Haar syndrome	HGNC:29242	Homo sapiens (human)	285590	SH3PXD2B	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110668	congenital myasthenic syndrome 10	HGNC:26594	Homo sapiens (human)	285489	DOK7	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111376	fetal akinesia deformation sequence syndrome 3	HGNC:26594	Homo sapiens (human)	285489	DOK7	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050441	mucosulfatidosis	HGNC:20376	Homo sapiens (human)	285362	SUMF1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060227	Adams-Oliver syndrome	HGNC:28526	Homo sapiens (human)	285203	EOGT	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:12849	autistic disorder	HGNC:20653	Homo sapiens (human)	285195	SLC9A9	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070611	autosomal dominant nonsyndromic deafness 88	HGNC:19987	Homo sapiens (human)	284656	EPHA10	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:3393	coronary artery disease	HGNC:25262	Homo sapiens (human)	284498	C1orf167	inference by association of genotype from phenotype used in manual assertion	PMID:31175347
DOID:0070293	primary autosomal recessive microcephaly 2 with or without cortical malformations	HGNC:24502	Homo sapiens (human)	284403	WDR62	inference by association of genotype from phenotype used in manual assertion	PMID:21496009 PMID:21961505 PMID:26577670 RGD:7240710
DOID:1059	intellectual disability	HGNC:24502	Homo sapiens (human)	284403	WDR62	inference by association of genotype from phenotype used in manual assertion	PMID:24479948
DOID:0080918	polymicrogyria	HGNC:24502	Homo sapiens (human)	284403	WDR62	inference by association of genotype from phenotype used in manual assertion	PMID:21834044
DOID:0070296	primary autosomal recessive microcephaly	HGNC:24502	Homo sapiens (human)	284403	WDR62	inference by association of genotype from phenotype used in manual assertion	PMID:22308068 PMID:25303973
DOID:0112091	nuclear type mitochondrial complex I deficiency 34	HGNC:33551	Homo sapiens (human)	284184	NDUFAF8	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111138	congenital generalized lipodystrophy type 4	HGNC:9688	Homo sapiens (human)	284119	CAVIN1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080453	developmental and epileptic encephalopathy 25	HGNC:23089	Homo sapiens (human)	284111	SLC13A5	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070432	hyperphosphatasia with impaired intellectual development syndrome 5	HGNC:23213	Homo sapiens (human)	284098	PIGW	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050880	Koolen de Vries syndrome	HGNC:24565	Homo sapiens (human)	284058	KANSL1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070391	developmental and epileptic encephalopathy 105	HGNC:15736	Homo sapiens (human)	283987	HID1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070070	autosomal dominant intellectual developmental disorder 40	HGNC:20311	Homo sapiens (human)	283489	CHAMP1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111156	spermatogenic failure 9	HGNC:19414	Homo sapiens (human)	283417	DPY19L2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:11830	myopia	HGNC:20502	Homo sapiens (human)	283375	SLC39A5	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110447	dilated cardiomyopathy 1DD	HGNC:27424	Homo sapiens (human)	282996	RBM20	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:12930	dilated cardiomyopathy	HGNC:27424	Homo sapiens (human)	282996	RBM20	inference by association of genotype from phenotype used in manual assertion	PMID:19712804 PMID:22466703
DOID:1883	hepatitis C	HGNC:18363	Homo sapiens (human)	282618	IFNL1	inference by association of genotype from phenotype used in manual assertion	PMID:24269996
DOID:12206	dengue hemorrhagic fever	HGNC:18363	Homo sapiens (human)	282618	IFNL1	inference by association of genotype from phenotype used in manual assertion	PMID:31981768

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