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 | July 29, 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:0111503 | Li-Fraumeni syndrome 1 | HGNC:11998 | Homo sapiens (human) | 7157 | TP53 |
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DOID:0111162 | epidermal nevus | HGNC:8975 | Homo sapiens (human) | 5290 | PIK3CA |
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DOID:0050571 | congenital disorder of glycosylation type II | HGNC:16787 | Homo sapiens (human) | 80267 | EDEM3 |
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DOID:13810 | familial hypercholesterolemia | HGNC:3402 | Homo sapiens (human) | 2053 | EPHX2 |
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DOID:12678 | hypercalcemia | HGNC:2602 | Homo sapiens (human) | 1591 | CYP24A1 |
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DOID:0080128 | mitochondrial DNA depletion syndrome 9 | HGNC:11449 | Homo sapiens (human) | 8802 | SUCLG1 |
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DOID:0060653 | lethal congenital contracture syndrome 3 | HGNC:8996 | Homo sapiens (human) | 23396 | PIP5K1C |
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DOID:0111402 | mucopolysaccharidosis type IIID | HGNC:4422 | Homo sapiens (human) | 2799 | GNS |
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DOID:0070112 | Niemann-Pick disease type B | HGNC:11120 | Homo sapiens (human) | 6609 | SMPD1 |
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DOID:0112303 | spondylometaphyseal dysplasia with corneal dystrophy | HGNC:9056 | Homo sapiens (human) | 5331 | PLCB3 |
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DOID:0112361 | spondylocostal dysostosis 3 | HGNC:6560 | Homo sapiens (human) | 3955 | LFNG |
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DOID:0070352 | stress-induced childhood-onset neurodegeneration with variable ataxia and seizures | HGNC:21304 | Homo sapiens (human) | 54936 | ADPRS |
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DOID:0080582 | hypotrichosis 14 | HGNC:6708 | Homo sapiens (human) | 4047 | LSS |
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DOID:10584 | retinitis pigmentosa | HGNC:19139 | Homo sapiens (human) | 55624 | POMGNT1 |
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DOID:0080626 | corticosterone methyloxidase deficiency 1 | HGNC:2592 | Homo sapiens (human) | 1585 | CYP11B2 |
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DOID:2626 | choroid plexus papilloma | HGNC:11998 | Homo sapiens (human) | 7157 | TP53 |
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DOID:0081097 | Rafiq syndrome | HGNC:6823 | Homo sapiens (human) | 11253 | MAN1B1 |
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DOID:0112251 | Ghosal hematodiaphyseal syndrome | HGNC:11609 | Homo sapiens (human) | 6916 | TBXAS1 |
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DOID:0111933 | phosphoglycerate kinase 1 deficiency | HGNC:8896 | Homo sapiens (human) | 5230 | PGK1 |
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DOID:0081180 | autosomal recessive intellectual developmental disorder 12 | HGNC:10866 | Homo sapiens (human) | 6487 | ST3GAL3 |
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DOID:0112343 | hereditary spastic paraplegia 82 | HGNC:8756 | Homo sapiens (human) | 5833 | PCYT2 |
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DOID:0080941 | acquired angioedema | HGNC:12823 | Homo sapiens (human) | 7512 | XPNPEP2 |
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DOID:13809 | familial combined hyperlipidemia | HGNC:6677 | Homo sapiens (human) | 4023 | LPL |
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DOID:0060445 | congenital stromal corneal dystrophy | HGNC:2705 | Homo sapiens (human) | 1634 | DCN |
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DOID:0060774 | congenital diarrhea | HGNC:16526 | Homo sapiens (human) | 51703 | ACSL5 |
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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 v4.0.0
Last updated: August 19, 2024