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:0112181 | Schinzel type phocomelia | HGNC:12786 | Homo sapiens (human) | 7476 | WNT7A |
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DOID:0060449 | gelatinous drop-like corneal dystrophy | HGNC:11530 | Homo sapiens (human) | 4070 | TACSTD2 |
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DOID:0110178 | Charcot-Marie-Tooth disease axonal type 2V | HGNC:7632 | Homo sapiens (human) | 4669 | NAGLU |
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DOID:0111562 | overhydrated hereditary stomatocytosis | HGNC:10006 | Homo sapiens (human) | 6005 | RHAG |
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DOID:0112262 | leucine-sensitive hypoglycemia of infancy | HGNC:59 | Homo sapiens (human) | 6833 | ABCC8 |
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DOID:0112217 | developmental and epileptic encephalopathy 81 | HGNC:2938 | Homo sapiens (human) | 23312 | DMXL2 |
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DOID:0070436 | hyperphosphatasia with impaired intellectual development syndrome 4 | HGNC:23719 | Homo sapiens (human) | 93210 | PGAP3 |
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DOID:0080665 | warfarin resistance | HGNC:2623 | Homo sapiens (human) | 1559 | CYP2C9 |
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DOID:0112216 | developmental and epileptic encephalopathy 80 | HGNC:8959 | Homo sapiens (human) | 9488 | PIGB |
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DOID:0111473 | combined oxidative phosphorylation deficiency 5 | HGNC:14508 | Homo sapiens (human) | 56945 | MRPS22 |
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DOID:0060272 | pontocerebellar hypoplasia type 3 | HGNC:13406 | Homo sapiens (human) | 27445 | PCLO |
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DOID:0111691 | familial adult myoclonic epilepsy 5 | HGNC:2172 | Homo sapiens (human) | 6900 | CNTN2 |
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DOID:0110459 | dilated cardiomyopathy 1FF | HGNC:11947 | Homo sapiens (human) | 7137 | TNNI3 |
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DOID:0070208 | hereditary lymphedema IC | HGNC:17494 | Homo sapiens (human) | 57165 | GJC2 |
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DOID:14004 | thoracic aortic aneurysm | HGNC:6664 | Homo sapiens (human) | 4015 | LOX |
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DOID:612 | primary immunodeficiency disease | HGNC:6021 | Homo sapiens (human) | 3572 | IL6ST |
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DOID:0081236 | autosomal recessive intellectual developmental disorder 77 | HGNC:24866 | Homo sapiens (human) | 9731 | CEP104 |
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DOID:0111451 | progressive myoclonus epilepsy 8 | HGNC:14253 | Homo sapiens (human) | 10715 | CERS1 |
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DOID:11105 | fundus albipunctatus | HGNC:10012 | Homo sapiens (human) | 6010 | RHO |
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DOID:0050651 | atrioventricular septal defect | HGNC:4173 | Homo sapiens (human) | 2626 | GATA4 |
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DOID:0111932 | severe congenital encephalopathy due to MECP2 mutation | HGNC:6990 | Homo sapiens (human) | 4204 | MECP2 |
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DOID:0070337 | epithelial recurrent erosion dystrophy | HGNC:2194 | Homo sapiens (human) | 1308 | COL17A1 |
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DOID:0112045 | non-syndromic X-linked intellectual disability 93 | HGNC:17342 | Homo sapiens (human) | 254065 | BRWD3 |
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DOID:0112021 | non-syndromic X-linked intellectual disability ARX-related | HGNC:18060 | Homo sapiens (human) | 170302 | ARX |
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DOID:0081355 | congenital myopathy 22B | HGNC:10591 | Homo sapiens (human) | 6329 | SCN4A |
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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