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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 **501 - 525** 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:0080114	mitochondrial complex III deficiency nuclear type 5	HGNC:12586	Homo sapiens (human)	7385	UQCRC2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110994	Joubert syndrome 25	HGNC:24866	Homo sapiens (human)	9731	CEP104	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0081209	autosomal recessive intellectual developmental disorder 45	HGNC:16510	Homo sapiens (human)	79791	FBXO31	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0081243	rhizomelic chondrodysplasia punctate type 4	HGNC:26222	Homo sapiens (human)	84188	FAR1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060614	ulnar-mammary syndrome	HGNC:11602	Homo sapiens (human)	6926	TBX3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0081340	congenital myopathy 2C	HGNC:129	Homo sapiens (human)	58	ACTA1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0090135	complex cortical dysplasia with other brain malformations 5	HGNC:12412	Homo sapiens (human)	7280	TUBB2A	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110819	hereditary spastic paraplegia 74	HGNC:27302	Homo sapiens (human)	200205	IBA57	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110710	hypotrichosis 13	HGNC:28927	Homo sapiens (human)	112802	KRT71	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0081341	congenital myopathy 5	HGNC:12403	Homo sapiens (human)	7273	TTN	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050461	aspartylglucosaminuria	HGNC:318	Homo sapiens (human)	175	AGA	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080512	Meier-Gorlin syndrome 1	HGNC:8487	Homo sapiens (human)	4998	ORC1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110591	autosomal dominant nonsyndromic deafness 7	HGNC:6653	Homo sapiens (human)	4009	LMX1A	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111343	lateral meningocele syndrome	HGNC:7883	Homo sapiens (human)	4854	NOTCH3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080990	King Denborough syndrome	HGNC:10483	Homo sapiens (human)	6261	RYR1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050797	peroxisomal acyl-CoA oxidase deficiency	HGNC:119	Homo sapiens (human)	51	ACOX1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:6364	migraine	HGNC:3467	Homo sapiens (human)	2099	ESR1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111926	spermatogenic failure 39	HGNC:2946	Homo sapiens (human)	8632	DNAH17	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070292	primary autosomal recessive microcephaly 9	HGNC:29298	Homo sapiens (human)	22995	CEP152	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0081337	congenital myopathy	HGNC:9639	Homo sapiens (human)	9200	HACD1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070218	familial hyperinsulinemic hypoglycemia 2	HGNC:6257	Homo sapiens (human)	3767	KCNJ11	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070197	distal myopathy 1	HGNC:7577	Homo sapiens (human)	4625	MYH7	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:4586	familial meningioma	HGNC:7180	Homo sapiens (human)	4330	MN1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria	HGNC:23537	Homo sapiens (human)	55526	DHTKD1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060212	amyotrophic lateral sclerosis type 21	HGNC:6912	Homo sapiens (human)	9782	MATR3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710

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