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:0111254 | glutaric acidemia I | HGNC:4189 | Homo sapiens (human) | 2639 | GCDH |
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DOID:0070216 | familial hyperinsulinemic hypoglycemia 3 | HGNC:4195 | Homo sapiens (human) | 2645 | GCK |
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DOID:0110293 | autosomal recessive limb-girdle muscular dystrophy type 2P | HGNC:2666 | Homo sapiens (human) | 1605 | DAG1 |
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DOID:3413 | alpha-mannosidosis | HGNC:6826 | Homo sapiens (human) | 4125 | MAN2B1 |
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DOID:0080250 | erythrokeratodermia variabilis et progressiva 4 | HGNC:4021 | Homo sapiens (human) | 2531 | KDSR |
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DOID:0081326 | oxoglutarate dehydrogenase deficiency | HGNC:8124 | Homo sapiens (human) | 4967 | OGDH |
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DOID:0060602 | alpha-methylacyl-CoA racemase deficiency | HGNC:451 | Homo sapiens (human) | 23600 | AMACR |
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DOID:12798 | mucopolysaccharidosis | HGNC:25239 | Homo sapiens (human) | 153642 | ARSK |
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DOID:0111041 | glycogen storage disease IXb | HGNC:8927 | Homo sapiens (human) | 5257 | PHKB |
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DOID:0060537 | mitochondrial complex II deficiency | HGNC:10681 | Homo sapiens (human) | 6390 | SDHB |
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DOID:0090101 | lethal congenital glycogen storage disease of heart | HGNC:9386 | Homo sapiens (human) | 51422 | PRKAG2 |
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DOID:0111459 | classic galactosemia | HGNC:4135 | Homo sapiens (human) | 2592 | GALT |
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DOID:0110191 | Charcot-Marie-Tooth disease type 4B1 | HGNC:7450 | Homo sapiens (human) | 8898 | MTMR2 |
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DOID:0110011 | advanced sleep phase syndrome 1 | HGNC:8846 | Homo sapiens (human) | 8864 | PER2 |
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DOID:0080197 | congenital muscular dystrophy with cataracts and intellectual disability | HGNC:33882 | Homo sapiens (human) | 51763 | INPP5K |
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DOID:0060589 | Yunis-Varon syndrome | HGNC:16873 | Homo sapiens (human) | 9896 | FIG4 |
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DOID:0111277 | mitochondrial trifunctional protein deficiency | HGNC:4803 | Homo sapiens (human) | 3032 | HADHB |
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DOID:0050883 | infantile cerebellar-retinal degeneration | HGNC:118 | Homo sapiens (human) | 50 | ACO2 |
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DOID:0110957 | Gaucher's disease type I | HGNC:4177 | Homo sapiens (human) | 2629 | GBA1 |
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DOID:12803 | Sly syndrome | HGNC:4696 | Homo sapiens (human) | 2990 | GUSB |
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DOID:0080563 | congenital disorder of glycosylation Ik | HGNC:18294 | Homo sapiens (human) | 56052 | ALG1 |
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DOID:0050558 | Ullrich congenital muscular dystrophy | HGNC:2211 | Homo sapiens (human) | 1291 | COL6A1 |
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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:0080887 | vitamin D-dependent rickets type 1B | HGNC:20580 | Homo sapiens (human) | 120227 | CYP2R1 |
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DOID:0110660 | congenital myasthenic syndrome 12 | HGNC:4241 | Homo sapiens (human) | 2673 | GFPT1 |
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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