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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 176 - 200 of 14279 in total
Disease ID ▲ Disease Name Alliance of Genome Resources ID Species Gene ID Gene Symbol FlyGlycoDB Evidence References
DOID:0050474 Netherton syndrome MGI:1919682 Mus musculus (house mouse) 72432 Spink5 author statement supported by traceable reference
  • MGI:5319224
  • PMID:15466487
  • PMID:15590704
  • PMID:15619623
DOID:0050475 Weill-Marchesani syndrome MGI:95489 Mus musculus (house mouse) 14118 Fbn1 author statement supported by traceable reference
  • PMID:22242013
DOID:0050475 Weill-Marchesani syndrome HGNC:3603 Homo sapiens (human) 2200 FBN1 inference by association of genotype from phenotype used in manual assertion
  • PMID:12525539
  • RGD:7240710
DOID:0050475 Weill-Marchesani syndrome HGNC:13201 Homo sapiens (human) 81794 ADAMTS10 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0050475 Weill-Marchesani syndrome MGI:2449112 Mus musculus (house mouse) 224697 Adamts10 author statement supported by traceable reference
  • PMID:30060141
  • PMID:34424262
DOID:0050475 Weill-Marchesani syndrome HGNC:6715 Homo sapiens (human) 4053 LTBP2 inference by association of genotype from phenotype used in manual assertion
  • PMID:22539340
  • RGD:7240710
DOID:0050475 Weill-Marchesani syndrome HGNC:17109 Homo sapiens (human) 170691 ADAMTS17 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0050476 Barth syndrome MGI:96968 Mus musculus (house mouse) 17294 Mest author statement supported by traceable reference
  • PMID:12242721
DOID:0050477 Liddle syndrome HGNC:10602 Homo sapiens (human) 6340 SCNN1G inference by association of genotype from phenotype used in manual assertion
  • PMID:7550319
  • 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:0050477 Liddle syndrome SGD:S000000927 Saccharomyces cerevisiae S288C 856862 RSP5 sequence similarity evidence used in manual assertion
  • PMID:12684839
DOID:0050477 Liddle syndrome SGD:S000000927 Saccharomyces cerevisiae S288C 856862 RSP5 genetic interaction evidence used in manual assertion
  • PMID:12684839
DOID:0050477 Liddle syndrome HGNC:10599 Homo sapiens (human) 6337 SCNN1A inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0050477 Liddle syndrome MGI:104696 Mus musculus (house mouse) 20277 Scnn1b author statement supported by traceable reference
  • PMID:10589691
DOID:0050489 multinodular goiter HGNC:17098 Homo sapiens (human) 23405 DICER1 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0050523 adult T-cell leukemia/lymphoma HGNC:7881 Homo sapiens (human) 4851 NOTCH1 inference by association of genotype from phenotype used in manual assertion
  • PMID:16707600
DOID:0050523 adult T-cell leukemia/lymphoma HGNC:11920 Homo sapiens (human) 355 FAS inference by association of genotype from phenotype used in manual assertion
  • PMID:17962369
DOID:0050523 adult T-cell leukemia/lymphoma HGNC:6193 Homo sapiens (human) 3718 JAK3 inference by association of genotype from phenotype used in manual assertion
  • PMID:21821710
DOID:0050524 maturity-onset diabetes of the young HGNC:11621 Homo sapiens (human) 6927 HNF1A inference by association of genotype from phenotype used in manual assertion
  • PMID:23674172
DOID:0050524 maturity-onset diabetes of the young MGI:98731 Mus musculus (house mouse) 21817 Tgm2 author statement supported by traceable reference
  • PMID:11883932
  • PMID:12205028
  • PMID:12651621
DOID:0050524 maturity-onset diabetes of the young SGD:S000000545 Saccharomyces cerevisiae S288C 850317 GLK1 genetic interaction evidence used in manual assertion
  • PMID:37101203
  • PMID:38627865
DOID:0050524 maturity-onset diabetes of the young SGD:S000000545 Saccharomyces cerevisiae S288C 850317 GLK1 sequence similarity evidence used in manual assertion
  • PMID:37101203
  • PMID:38627865
DOID:0050524 maturity-onset diabetes of the young MGI:102851 Mus musculus (house mouse) 18609 Pdx1 author statement supported by traceable reference
  • PMID:12697734
  • PMID:9637677
DOID:0050524 maturity-onset diabetes of the young MGI:96573 Mus musculus (house mouse) 16334 Ins2 author statement supported by traceable reference
  • PMID:15914643
  • PMID:9133560
DOID:0050534 congenital stationary night blindness RGD:621535 Rattus norvegicus (Norway rat) 114493 Cacna1f inference by association of genotype from phenotype used in manual assertion
  • PMID:18246026
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Supported by JST NBDC Grant Number JPMJND2204

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