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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 October 9, 2024
Displaying entries 12401 - 12425 of 71927 in total
Disease ID ▲ Disease Name Alliance of Genome Resources ID Species Gene ID Gene Symbol FlyGlycoDB Evidence Code Names References
DOID:0090001 Fraser syndrome HGNC:19185 Homo sapiens (human) 80144 FRAS1
  • MGI:6194238
DOID:0090001 Fraser syndrome HGNC:18708 Homo sapiens (human) 23426 GRIP1
  • MGI:6194238
DOID:0090001 Fraser syndrome HGNC:25396 Homo sapiens (human) 341640 FREM2
  • MGI:6194238
DOID:0090001 Fraser syndrome MGI:2385368 Mus musculus (house mouse) 231470 Fras1
  • PMID:12766769
  • PMID:12766770
  • PMID:15623520
  • PMID:24143185
  • PMID:26813283
DOID:0090001 Fraser syndrome HGNC:23399 Homo sapiens (human) 158326 FREM1
  • MGI:6194238
DOID:0090001 Fraser syndrome MGI:1921303 Mus musculus (house mouse) 74053 Grip1
  • PMID:14730302
  • PMID:16880404
DOID:0090001 Fraser syndrome MGI:2670972 Mus musculus (house mouse) 329872 Frem1
  • PMID:15345741
  • PMID:16880404
DOID:0090001 Fraser syndrome MGI:2444465 Mus musculus (house mouse) 242022 Frem2
  • MGI:5284969
  • MGI:5428032
  • PMID:15838507
  • PMID:16880404
  • PMID:25917818
DOID:0090002 Tietz syndrome HGNC:7105 Homo sapiens (human) 4286 MITF
  • MGI:6194238
  • RGD:7240710
DOID:0090002 Tietz syndrome MGI:104554 Mus musculus (house mouse) 17342 Mitf
  • MGI:2662101
  • MGI:2662103
  • MGI:6194238
  • MGI:78359
  • PMID:11929848
  • PMID:18902556
  • PMID:9501313
DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy HGNC:10914 Homo sapiens (human) 9990 SLC12A6
  • MGI:6194238
  • PMID:16606917
  • RGD:7240710
DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy MGI:2135960 Mus musculus (house mouse) 107723 Slc12a6
  • MGI:6194238
  • PMID:12368912
  • PMID:14532115
  • PMID:22423107
DOID:0090004 progressive pseudorheumatoid arthropathy of childhood MGI:2685581 Mus musculus (house mouse) 327743 Ccn6
  • MGI:6194238
  • PMID:15601861
  • PMID:24040393
DOID:0090004 progressive pseudorheumatoid arthropathy of childhood HGNC:12771 Homo sapiens (human) 8838 CCN6
  • MGI:6194238
  • RGD:7240710
DOID:0090005 Schwartz-Jampel syndrome 1 HGNC:5273 Homo sapiens (human) 3339 HSPG2
  • MGI:6194238
  • RGD:7240710
DOID:0090005 Schwartz-Jampel syndrome 1 WB:WBGene00006787 Caenorhabditis elegans 175126 unc-52
  • MGI:6194238
DOID:0090005 Schwartz-Jampel syndrome 1 MGI:96257 Mus musculus (house mouse) 15530 Hspg2
  • MGI:6194238
  • PMID:11802174
  • PMID:17213231
  • PMID:18647752
  • PMID:22449950
DOID:0090005 Schwartz-Jampel syndrome 1 FB:FBgn0284408 Drosophila melanogaster (fruit fly) 45320 trol CG33950
  • MGI:6194238
DOID:0090011 immunodeficiency-centromeric instability-facial anomalies syndrome 4 HGNC:4861 Homo sapiens (human) 3070 HELLS
  • RGD:7240710
DOID:0090011 immunodeficiency-centromeric instability-facial anomalies syndrome 4 SGD:S000001934 Saccharomyces cerevisiae S288C 850599 IRC5
  • MGI:6194238
DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation HGNC:17642 Homo sapiens (human) 64421 DCLRE1C
  • MGI:6194238
  • RGD:7240710
DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive HGNC:9413 Homo sapiens (human) 5591 PRKDC
  • MGI:6194238
DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive HGNC:2252 Homo sapiens (human) 11151 CORO1A
  • MGI:6194238
DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive HGNC:6193 Homo sapiens (human) 3718 JAK3
  • MGI:6194238
DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive MGI:1345961 Mus musculus (house mouse) 12721 Coro1a
  • PMID:18836449

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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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