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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 5826 - 5850 of 14279 in total
Disease ID Disease Name ▲ Alliance of Genome Resources ID Species Gene ID Gene Symbol FlyGlycoDB Evidence References
DOID:0070545 developmental and epileptic encephalopathy 116 HGNC:4341 Homo sapiens (human) 2752 GLUL inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0080459 developmental and epileptic encephalopathy 12 HGNC:15917 Homo sapiens (human) 23236 PLCB1 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0080445 developmental and epileptic encephalopathy 13 HGNC:10596 Homo sapiens (human) 6334 SCN8A inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0080439 developmental and epileptic encephalopathy 14 MGI:1924627 Mus musculus (house mouse) 227632 Kcnt1 author statement supported by traceable reference
  • PMID:32081855
  • PMID:36173683
DOID:0080439 developmental and epileptic encephalopathy 14 HGNC:18865 Homo sapiens (human) 57582 KCNT1 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0080414 developmental and epileptic encephalopathy 15 HGNC:10866 Homo sapiens (human) 6487 ST3GAL3 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0080450 developmental and epileptic encephalopathy 17 MGI:95775 Mus musculus (house mouse) 14681 Gnao1 author statement supported by traceable reference
  • PMID:24700286
  • PMID:30682176
DOID:0080413 developmental and epileptic encephalopathy 18 HGNC:29040 Homo sapiens (human) 23334 SZT2 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0080431 developmental and epileptic encephalopathy 19 HGNC:4075 Homo sapiens (human) 2554 GABRA1 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0080467 developmental and epileptic encephalopathy 2 HGNC:11411 Homo sapiens (human) 6792 CDKL5 inference by association of genotype from phenotype used in manual assertion
  • PMID:22264704
  • PMID:22678952
  • RGD:7240710
DOID:0080467 developmental and epileptic encephalopathy 2 MGI:1278336 Mus musculus (house mouse) 382253 Cdkl5 author statement supported by traceable reference
  • PMID:24838000
DOID:0080443 developmental and epileptic encephalopathy 21 HGNC:24539 Homo sapiens (human) 25977 NECAP1 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0080415 developmental and epileptic encephalopathy 23 HGNC:19190 Homo sapiens (human) 85440 DOCK7 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0080429 developmental and epileptic encephalopathy 24 HGNC:4845 Homo sapiens (human) 348980 HCN1 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:0080444 developmental and epileptic encephalopathy 27 HGNC:4586 Homo sapiens (human) 2904 GRIN2B inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0080451 developmental and epileptic encephalopathy 29 HGNC:20 Homo sapiens (human) 16 AARS1 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0080465 developmental and epileptic encephalopathy 30 HGNC:11142 Homo sapiens (human) 150094 SIK1 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0080437 developmental and epileptic encephalopathy 31A HGNC:2972 Homo sapiens (human) 1759 DNM1 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0070376 developmental and epileptic encephalopathy 31B HGNC:2972 Homo sapiens (human) 1759 DNM1 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0080416 developmental and epileptic encephalopathy 32 HGNC:6220 Homo sapiens (human) 3737 KCNA2 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0080463 developmental and epileptic encephalopathy 33 HGNC:3192 Homo sapiens (human) 1917 EEF1A2 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0080460 developmental and epileptic encephalopathy 34 HGNC:13818 Homo sapiens (human) 57468 SLC12A5 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0080470 developmental and epileptic encephalopathy 36 HGNC:30881 Homo sapiens (human) 79868 ALG13 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0080417 developmental and epileptic encephalopathy 38 SGD:S000004232 Saccharomyces cerevisiae S288C 850943 ARV1 mutant phenotype evidence used in manual assertion
  • PMID:32449190
  • PMID:32462292
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 7, 2025