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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:0110273	autosomal dominant limb-girdle muscular dystrophy	HGNC:1480	Homo sapiens (human)	825	CAPN3	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070229	intrahepatic cholestasis of pregnancy 3	HGNC:45	Homo sapiens (human)	5244	ABCB4	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111344	myeloproliferative disorder with eosinophilia	HGNC:8804	Homo sapiens (human)	5159	PDGFRB	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060308	autosomal recessive intellectual developmental disorder	HGNC:12017	Homo sapiens (human)	7175	TPR	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060206	amyotrophic lateral sclerosis type 15	HGNC:12509	Homo sapiens (human)	29978	UBQLN2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110840	Usher syndrome type 2D	HGNC:16361	Homo sapiens (human)	25861	WHRN	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110593	autosomal dominant nonsyndromic deafness 9	HGNC:2180	Homo sapiens (human)	1690	COCH	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0060558	lethal congenital contracture syndrome	HGNC:2974	Homo sapiens (human)	1785	DNM2	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:4183	pseudopseudohypoparathyroidism	HGNC:4392	Homo sapiens (human)	2778	GNAS	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110358	retinitis pigmentosa 12	HGNC:2343	Homo sapiens (human)	23418	CRB1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0070232	benign recurrent intrahepatic cholestasis 2	HGNC:42	Homo sapiens (human)	8647	ABCB11	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111257	gamma-glutamyl transpeptidase deficiency	HGNC:4250	Homo sapiens (human)	2678	GGT1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0111334	congenital leptin deficiency	HGNC:6553	Homo sapiens (human)	3952	LEP	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110914	infantile hypophosphatasia	HGNC:438	Homo sapiens (human)	249	ALPL	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110670	congenital myasthenic syndrome 9	HGNC:7525	Homo sapiens (human)	4593	MUSK	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0112329	pontocerebellar hypoplasia type 2F	HGNC:16791	Homo sapiens (human)	116461	TSEN15	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080238	autosomal dominant intellectual developmental disorder 47	HGNC:11354	Homo sapiens (human)	10274	STAG1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050477	Liddle syndrome	HGNC:10600	Homo sapiens (human)	6338	SCNN1B	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:1172	hyperlipoproteinemia type IV	HGNC:17288	Homo sapiens (human)	116519	APOA5	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110326	hypertrophic cardiomyopathy 20	HGNC:29557	Homo sapiens (human)	91624	NEXN	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0050675	Birk-Barel syndrome	HGNC:6283	Homo sapiens (human)	51305	KCNK9	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080559	congenital disorder of glycosylation Ig	HGNC:19358	Homo sapiens (human)	79087	ALG12	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0080428	developmental and epileptic encephalopathy 45	HGNC:4081	Homo sapiens (human)	2560	GABRB1	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:1612	breast cancer	HGNC:9277	Homo sapiens (human)	8493	PPM1D	inference by association of genotype from phenotype used in manual assertion	RGD:7240710
DOID:0110666	congenital myasthenic syndrome 3A	HGNC:1965	Homo sapiens (human)	1144	CHRND	inference by association of genotype from phenotype used in manual assertion	RGD:7240710

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