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: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:12714 | Ellis-Van Creveld syndrome | HGNC:19747 | Homo sapiens (human) | 132884 | EVC2 |
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DOID:0060867 | macrocephaly-autism syndrome | HGNC:9588 | Homo sapiens (human) | 5728 | PTEN |
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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:1287 | cardiovascular system disease | HGNC:320 | Homo sapiens (human) | 177 | AGER |
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DOID:0110609 | primary ciliary dyskinesia 23 | HGNC:25583 | Homo sapiens (human) | 55130 | ODAD2 |
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DOID:14219 | renal tubular acidosis | HGNC:866 | Homo sapiens (human) | 50617 | ATP6V0A4 |
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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:0050430 | multiple endocrine neoplasia type 2A | HGNC:9967 | Homo sapiens (human) | 5979 | RET |
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DOID:9266 | cystinuria | HGNC:11025 | Homo sapiens (human) | 6519 | SLC3A1 |
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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:0050560 | Walker-Warburg syndrome | HGNC:19743 | Homo sapiens (human) | 29954 | POMT2 |
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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:10763 | hypertension | HGNC:3402 | Homo sapiens (human) | 2053 | EPHX2 |
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DOID:10325 | silicosis | HGNC:11892 | Homo sapiens (human) | 7124 | TNF |
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DOID:0060747 | Duane-radial ray syndrome | HGNC:15924 | Homo sapiens (human) | 57167 | SALL4 |
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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