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:0060741 | methylmalonic acidemia due to transcobalamin receptor defect | HGNC:16692 | Homo sapiens (human) | 51293 | CD320 |
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DOID:0110087 | asphyxiating thoracic dystrophy 3 | HGNC:2962 | Homo sapiens (human) | 79659 | DYNC2H1 |
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DOID:0110175 | Charcot-Marie-Tooth disease axonal type 2O | HGNC:2961 | Homo sapiens (human) | 1778 | DYNC1H1 |
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DOID:1056 | oculocerebrorenal syndrome | HGNC:8108 | Homo sapiens (human) | 4952 | OCRL |
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DOID:2129 | atypical teratoid rhabdoid tumor | HGNC:11103 | Homo sapiens (human) | 6598 | SMARCB1 |
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DOID:0060569 | hypertrichotic osteochondrodysplasia Cantu type | HGNC:60 | Homo sapiens (human) | 10060 | ABCC9 |
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DOID:0110867 | congenital stationary night blindness 1C | HGNC:7146 | Homo sapiens (human) | 4308 | TRPM1 |
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DOID:0081126 | DeSanto-Shinawi syndrome | HGNC:17327 | Homo sapiens (human) | 51322 | WAC |
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DOID:0110659 | congenital myasthenic syndrome 7 | HGNC:11510 | Homo sapiens (human) | 127833 | SYT2 |
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DOID:1572 | normal pressure hydrocephalus | HGNC:26684 | Homo sapiens (human) | 80217 | CFAP43 |
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DOID:0070248 | autosomal recessive Emery-Dreifuss muscular dystrophy 3 | HGNC:6636 | Homo sapiens (human) | 4000 | LMNA |
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DOID:0060545 | Hermansky-Pudlak syndrome 7 | HGNC:17328 | Homo sapiens (human) | 84062 | DTNBP1 |
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DOID:14264 | benign neonatal seizures | HGNC:6296 | Homo sapiens (human) | 3785 | KCNQ2 |
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DOID:0090144 | Donnai-Barrow syndrome | HGNC:6694 | Homo sapiens (human) | 4036 | LRP2 |
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DOID:5813 | purine nucleoside phosphorylase deficiency | HGNC:7892 | Homo sapiens (human) | 4860 | PNP |
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DOID:0110171 | Charcot-Marie-Tooth disease axonal type 2S | HGNC:5542 | Homo sapiens (human) | 3508 | IGHMBP2 |
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DOID:3413 | alpha-mannosidosis | HGNC:6826 | Homo sapiens (human) | 4125 | MAN2B1 |
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DOID:0110950 | Waardenburg syndrome type 2A | HGNC:7105 | Homo sapiens (human) | 4286 | MITF |
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DOID:14756 | vascular type Ehlers-Danlos syndrome | HGNC:2201 | Homo sapiens (human) | 1281 | COL3A1 |
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DOID:13543 | hyperparathyroidism | HGNC:16783 | Homo sapiens (human) | 79577 | CDC73 |
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DOID:0110477 | autosomal recessive nonsyndromic deafness 2 | HGNC:7606 | Homo sapiens (human) | 4647 | MYO7A |
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DOID:0111926 | spermatogenic failure 39 | HGNC:2946 | Homo sapiens (human) | 8632 | DNAH17 |
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DOID:0070045 | Coffin-Siris syndrome 3 | HGNC:11103 | Homo sapiens (human) | 6598 | SMARCB1 |
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DOID:0112061 | immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | HGNC:9802 | Homo sapiens (human) | 5880 | RAC2 |
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DOID:0110366 | retinitis pigmentosa 33 | HGNC:30859 | Homo sapiens (human) | 23020 | SNRNP200 |
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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