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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 13101 - 13125 of 14279 in total
Disease ID Disease Name ▲ Alliance of Genome Resources ID Species Gene ID Gene Symbol FlyGlycoDB Evidence References
DOID:0050985 spinocerebellar ataxia type 38 HGNC:21308 Homo sapiens (human) 60481 ELOVL5 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0050957 spinocerebellar ataxia type 4 HGNC:777 Homo sapiens (human) 463 ZFHX3 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0050986 spinocerebellar ataxia type 40 HGNC:19967 Homo sapiens (human) 440193 CCDC88C inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0050882 spinocerebellar ataxia type 5 HGNC:11276 Homo sapiens (human) 6712 SPTBN2 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0050956 spinocerebellar ataxia type 6 MGI:109482 Mus musculus (house mouse) 12286 Cacna1a author statement supported by traceable reference
  • PMID:25917818
  • PMID:26730403
DOID:0050956 spinocerebellar ataxia type 6 HGNC:1388 Homo sapiens (human) 773 CACNA1A inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0050958 spinocerebellar ataxia type 7 HGNC:10560 Homo sapiens (human) 6314 ATXN7 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0050958 spinocerebellar ataxia type 7 MGI:2179277 Mus musculus (house mouse) 246103 Atxn7 author statement supported by traceable reference
  • PMID:12575948
  • PMID:16494529
  • PMID:16936724
  • PMID:22002997
DOID:0090115 spinocerebellar ataxia with axonal neuropathy 1 HGNC:18884 Homo sapiens (human) 55775 TDP1 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0050755 spinocerebellar ataxia with axonal neuropathy 2 HGNC:445 Homo sapiens (human) 23064 SETX inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0090026 split hand-foot malformation 6 HGNC:12775 Homo sapiens (human) 7480 WNT10B inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:1123 spondyloarthropathy MGI:97370 Mus musculus (house mouse) 18605 Enpp1 author statement supported by traceable reference
  • PMID:7344126
DOID:1123 spondyloarthropathy MGI:104798 Mus musculus (house mouse) 21926 Tnf author statement supported by traceable reference
  • PMID:29618659
DOID:1123 spondyloarthropathy HGNC:2200 Homo sapiens (human) 1280 COL2A1 inference by association of genotype from phenotype used in manual assertion
  • PMID:7866404
DOID:1123 spondyloarthropathy HGNC:4932 Homo sapiens (human) 3106 HLA-B inference by association of genotype from phenotype used in manual assertion
  • PMID:2257626
DOID:0090116 spondylocarpotarsal synostosis syndrome HGNC:3755 Homo sapiens (human) 2317 FLNB inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0090116 spondylocarpotarsal synostosis syndrome MGI:2446089 Mus musculus (house mouse) 286940 Flnb author statement supported by traceable reference
  • PMID:17606870
  • PMID:17635842
DOID:0112361 spondylocostal dysostosis 3 HGNC:6560 Homo sapiens (human) 3955 LFNG inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0112363 spondylocostal dysostosis 5 HGNC:11605 Homo sapiens (human) 6911 TBX6 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0080027 spondyloepimetaphyseal dysplasia MGI:88452 Mus musculus (house mouse) 12824 Col2a1 author statement supported by traceable reference
  • PMID:21538020
  • PMID:26545783
DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 HGNC:17978 Homo sapiens (human) 126792 B3GALT6 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0112199 spondyloepimetaphyseal dysplasia with joint laxity type 2 HGNC:6391 Homo sapiens (human) 3835 KIF22 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type HGNC:19237 Homo sapiens (human) 54187 NANS inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0080030 spondyloepimetaphyseal dysplasia, Missouri type HGNC:7159 Homo sapiens (human) 4322 MMP13 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
DOID:0050812 spondyloepimetaphyseal dysplasia, Pakistani type HGNC:8604 Homo sapiens (human) 9060 PAPSS2 inference by association of genotype from phenotype used in manual assertion
  • RGD:7240710
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Last updated: December 8, 2025