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:0110334 | osteogenesis imperfecta type 1 | HGNC:2197 | Homo sapiens (human) | 1277 | COL1A1 |
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DOID:0060230 | basal ganglia calcification | HGNC:8804 | Homo sapiens (human) | 5159 | PDGFRB |
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DOID:0060369 | Parkinson's disease 6 | HGNC:14581 | Homo sapiens (human) | 65018 | PINK1 |
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DOID:0110186 | Charcot-Marie-Tooth disease type 4D | HGNC:7679 | Homo sapiens (human) | 10397 | NDRG1 |
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DOID:0080598 | Kleefstra syndrome 2 | HGNC:13726 | Homo sapiens (human) | 58508 | KMT2C |
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DOID:0111103 | maturity-onset diabetes of the young type 4 | HGNC:6107 | Homo sapiens (human) | 3651 | PDX1 |
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DOID:0060473 | Kabuki syndrome | HGNC:12637 | Homo sapiens (human) | 7403 | KDM6A |
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DOID:0050464 | Farber lipogranulomatosis | HGNC:735 | Homo sapiens (human) | 427 | ASAH1 |
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DOID:0110229 | cataract 6 multiple types | HGNC:3386 | Homo sapiens (human) | 1969 | EPHA2 |
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DOID:1339 | Diamond-Blackfan anemia | HGNC:26087 | Homo sapiens (human) | 55027 | HEATR3 |
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DOID:0050540 | Charcot-Marie-Tooth disease type 3 | HGNC:7225 | Homo sapiens (human) | 4359 | MPZ |
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DOID:0080325 | tuberous sclerosis 2 | HGNC:12363 | Homo sapiens (human) | 7249 | TSC2 |
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DOID:0090059 | enhanced S-cone syndrome | HGNC:7974 | Homo sapiens (human) | 10002 | NR2E3 |
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DOID:12120 | pulmonary alveolar proteinosis | HGNC:33 | Homo sapiens (human) | 21 | ABCA3 |
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DOID:0080153 | medium chain acyl-CoA dehydrogenase deficiency | HGNC:89 | Homo sapiens (human) | 34 | ACADM |
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DOID:0111135 | congenital generalized lipodystrophy type 1 | HGNC:325 | Homo sapiens (human) | 10555 | AGPAT2 |
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DOID:8545 | malignant hyperthermia | HGNC:10483 | Homo sapiens (human) | 6261 | RYR1 |
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DOID:10487 | Hirschsprung's disease | HGNC:4232 | Homo sapiens (human) | 2668 | GDNF |
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DOID:1588 | thrombocytopenia | HGNC:11795 | Homo sapiens (human) | 7066 | THPO |
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DOID:0110918 | hereditary spherocytosis type 3 | HGNC:11272 | Homo sapiens (human) | 6708 | SPTA1 |
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DOID:0110495 | autosomal recessive nonsyndromic deafness 37 | HGNC:7605 | Homo sapiens (human) | 4646 | MYO6 |
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DOID:0060814 | Wilson-Turner syndrome | HGNC:25726 | Homo sapiens (human) | 81887 | LAS1L |
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DOID:0110218 | Brugada syndrome 1 | HGNC:10593 | Homo sapiens (human) | 6331 | SCN5A |
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DOID:628 | combined T cell and B cell immunodeficiency | HGNC:6010 | Homo sapiens (human) | 3561 | IL2RG |
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DOID:13884 | sick sinus syndrome | HGNC:10593 | Homo sapiens (human) | 6331 | SCN5A |
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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