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 |
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Alliance of Genome Resources | October 9, 2024 |
Disease ID | Disease Name | Alliance of Genome Resources ID | Species | Gene ID | Gene Symbol | FlyGlycoDB | Evidence Code Names | References ▼ |
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DOID:0060705 | X-linked lymphoproliferative syndrome 1 | HGNC:10820 | Homo sapiens (human) | 4068 | SH2D1A |
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DOID:0110083 | arrhythmogenic right ventricular dysplasia 12 | HGNC:6207 | Homo sapiens (human) | 3728 | JUP |
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DOID:0080697 | Opitz GBBB syndrome | HGNC:7095 | Homo sapiens (human) | 4281 | MID1 |
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DOID:0111100 | maturity-onset diabetes of the young type 2 | HGNC:4195 | Homo sapiens (human) | 2645 | GCK |
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DOID:0111395 | mucopolysaccharidosis type IIIA | HGNC:10818 | Homo sapiens (human) | 6448 | SGSH |
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DOID:0111027 | hemochromatosis type 2A | HGNC:4887 | Homo sapiens (human) | 148738 | HJV |
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DOID:14766 | renal agenesis | HGNC:31042 | Homo sapiens (human) | 80000 | GREB1L |
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DOID:0110710 | hypotrichosis 13 | HGNC:28927 | Homo sapiens (human) | 112802 | KRT71 |
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DOID:0111506 | palmoplantar keratoderma-esophageal carcinoma syndrome | HGNC:20788 | Homo sapiens (human) | 79651 | RHBDF2 |
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DOID:0111401 | congenital dyserythropoietic anemia type II | HGNC:10702 | Homo sapiens (human) | 10483 | SEC23B |
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DOID:3529 | congenital myopathy 1A | HGNC:10483 | Homo sapiens (human) | 6261 | RYR1 |
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DOID:0090002 | Tietz syndrome | HGNC:7105 | Homo sapiens (human) | 4286 | MITF |
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DOID:0110078 | Leber congenital amaurosis 1 | HGNC:4689 | Homo sapiens (human) | 3000 | GUCY2D |
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DOID:0111028 | hemochromatosis type 4 | HGNC:10909 | Homo sapiens (human) | 30061 | SLC40A1 |
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DOID:0110609 | primary ciliary dyskinesia 23 | HGNC:25583 | Homo sapiens (human) | 55130 | ODAD2 |
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DOID:0080908 | Cockayne syndrome B | HGNC:3438 | Homo sapiens (human) | 2074 | ERCC6 |
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DOID:0081427 | autosomal recessive distal hereditary motor neuronopathy 8 | HGNC:11184 | Homo sapiens (human) | 6652 | SORD |
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DOID:0110263 | cataract 19 multiple types | HGNC:6610 | Homo sapiens (human) | 3982 | LIM2 |
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DOID:0110009 | achromatopsia 7 | HGNC:791 | Homo sapiens (human) | 22926 | ATF6 |
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DOID:0081327 | neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | HGNC:14282 | Homo sapiens (human) | 64207 | IRF2BPL |
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DOID:0070420 | developmental delay, hypotonia, and impaired language | HGNC:16712 | Homo sapiens (human) | 55294 | FBXW7 |
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DOID:0060698 | hyperekplexia 3 | HGNC:11051 | Homo sapiens (human) | 9152 | SLC6A5 |
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DOID:0060747 | Duane-radial ray syndrome | HGNC:15924 | Homo sapiens (human) | 57167 | SALL4 |
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DOID:0060352 | Kleefstra syndrome 1 | HGNC:24650 | Homo sapiens (human) | 79813 | EHMT1 |
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DOID:0060482 | oculoauricular syndrome | HGNC:5017 | Homo sapiens (human) | 3166 | HMX1 |
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.1.0
Last updated: December 9, 2024