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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:0080730	Ehlers-Danlos syndrome cardiac valvular type	HGNC:2198	Homo sapiens (human)	1278	COL1A2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:526	human immunodeficiency virus infectious disease	HGNC:5438	Homo sapiens (human)	3458	IFNG	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070140	autosomal recessive cutis laxa type IIC	HGNC:857	Homo sapiens (human)	529	ATP6V1E1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111945	immunodeficiency 31A	HGNC:11362	Homo sapiens (human)	6772	STAT1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111981	immunodeficiency 43	HGNC:914	Homo sapiens (human)	567	B2M	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070389	developmental and epileptic encephalopathy 103	HGNC:6234	Homo sapiens (human)	3747	KCNC2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0081265	intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	HGNC:26033	Homo sapiens (human)	54517	PUS7	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080620	familial glucocorticoid deficiency	HGNC:7863	Homo sapiens (human)	23530	NNT	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:2058	chronic mucocutaneous candidiasis	HGNC:16404	Homo sapiens (human)	112744	IL17F	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:5426	primary ovarian insufficiency	HGNC:7327	Homo sapiens (human)	4438	MSH4	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080385	nephrotic syndrome type 11	HGNC:29914	Homo sapiens (human)	57122	NUP107	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080922	bilateral frontoparietal polymicrogyria	HGNC:4512	Homo sapiens (human)	9289	ADGRG1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070065	autosomal dominant intellectual developmental disorder 35	HGNC:9312	Homo sapiens (human)	5528	PPP2R5D	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070563	glucose-galactose malabsorption	HGNC:11036	Homo sapiens (human)	6523	SLC5A1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080553	congenital disorder of glycosylation Iaa	HGNC:21042	Homo sapiens (human)	116150	NUS1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080581	hyperekplexia 4	HGNC:25903	Homo sapiens (human)	84896	ATAD1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:612	primary immunodeficiency disease	HGNC:12016	Homo sapiens (human)	7174	TPP2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0112125	alpha-thalassemia myelodysplasia syndrome	HGNC:886	Homo sapiens (human)	546	ATRX	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110699	hypotrichosis 2	HGNC:1802	Homo sapiens (human)	1041	CDSN	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0112035	non-syndromic X-linked intellectual disability 96	HGNC:11506	Homo sapiens (human)	6855	SYP	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111363	Heinz body anemia	HGNC:4824	Homo sapiens (human)	3040	HBA2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111907	thrombophilia due to thrombin defect	HGNC:3535	Homo sapiens (human)	2147	F2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0112045	non-syndromic X-linked intellectual disability 93	HGNC:17342	Homo sapiens (human)	254065	BRWD3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:2043	hepatitis B	HGNC:5965	Homo sapiens (human)	3588	IL10RB	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070551	epidermolytic palmoplantar keratoderma 2	HGNC:6412	Homo sapiens (human)	3848	KRT1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710

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