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:0110858 | polycystic kidney disease 1 | HGNC:9008 | Homo sapiens (human) | 5310 | PKD1 |
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DOID:0111395 | mucopolysaccharidosis type IIIA | HGNC:10818 | Homo sapiens (human) | 6448 | SGSH |
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DOID:0110913 | adult hypophosphatasia | HGNC:438 | Homo sapiens (human) | 249 | ALPL |
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DOID:0050588 | muscular dystrophy-dystroglycanopathy type B1 | HGNC:9202 | Homo sapiens (human) | 10585 | POMT1 |
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DOID:0080153 | medium chain acyl-CoA dehydrogenase deficiency | HGNC:89 | Homo sapiens (human) | 34 | ACADM |
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DOID:0080154 | short chain acyl-CoA dehydrogenase deficiency | HGNC:90 | Homo sapiens (human) | 35 | ACADS |
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DOID:0070253 | congenital disorder of glycosylation type IIa | HGNC:7045 | Homo sapiens (human) | 4247 | MGAT2 |
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DOID:0050773 | paraganglioma | HGNC:10680 | Homo sapiens (human) | 6389 | SDHA |
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DOID:0110644 | long QT syndrome 1 | HGNC:6294 | Homo sapiens (human) | 3784 | KCNQ1 |
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DOID:5813 | purine nucleoside phosphorylase deficiency | HGNC:7892 | Homo sapiens (human) | 4860 | PNP |
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DOID:14701 | propionic acidemia | HGNC:8653 | Homo sapiens (human) | 5095 | PCCA |
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DOID:0080886 | vitamin D-dependent rickets type 1A | HGNC:2606 | Homo sapiens (human) | 1594 | CYP27B1 |
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DOID:0060537 | mitochondrial complex II deficiency | HGNC:10683 | Homo sapiens (human) | 6392 | SDHD |
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DOID:0080507 | Cornelia de Lange syndrome 3 | HGNC:2468 | Homo sapiens (human) | 9126 | SMC3 |
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DOID:4795 | GM2 gangliosidosis, AB variant | HGNC:4367 | Homo sapiens (human) | 2760 | GM2A |
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DOID:12365 | malaria | HGNC:5344 | Homo sapiens (human) | 3383 | ICAM1 |
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DOID:0050545 | visceral heterotaxy | HGNC:18292 | Homo sapiens (human) | 55997 | CFC1 |
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DOID:0060563 | Char syndrome | HGNC:11743 | Homo sapiens (human) | 7021 | TFAP2B |
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DOID:0060350 | adenine phosphoribosyltransferase deficiency | HGNC:626 | Homo sapiens (human) | 353 | APRT |
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DOID:0090005 | Schwartz-Jampel syndrome 1 | HGNC:5273 | Homo sapiens (human) | 3339 | HSPG2 |
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DOID:0110852 | rhizomelic chondrodysplasia punctata type 2 | HGNC:4416 | Homo sapiens (human) | 8443 | GNPAT |
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DOID:0080633 | developmental cardiac valvular defect | HGNC:9067 | Homo sapiens (human) | 5337 | PLD1 |
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DOID:0111237 | congenital muscular dystrophy-dystroglycanopathy type A1 | HGNC:9202 | Homo sapiens (human) | 10585 | POMT1 |
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DOID:0111040 | glycogen storage disease IXd | HGNC:8925 | Homo sapiens (human) | 5255 | PHKA1 |
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DOID:0080349 | developmental and epileptic encephalopathy 39 | HGNC:10982 | Homo sapiens (human) | 8604 | SLC25A12 |
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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