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:0110401 | retinitis pigmentosa 74 | HGNC:967 | Homo sapiens (human) | 583 | BBS2 |
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DOID:0070155 | hereditary sensory and autonomic neuropathy type 2A | HGNC:14540 | Homo sapiens (human) | 65125 | WNK1 |
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DOID:0080696 | Winchester syndrome | HGNC:7160 | Homo sapiens (human) | 4323 | MMP14 |
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DOID:0111847 | osteogenesis imperfecta type 19 | HGNC:15455 | Homo sapiens (human) | 51360 | MBTPS2 |
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DOID:0111769 | 46,XY sex reversal 6 | HGNC:6848 | Homo sapiens (human) | 4214 | MAP3K1 |
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DOID:0111876 | linear skin defects with multiple congenital anomalies 3 | HGNC:20372 | Homo sapiens (human) | 54539 | NDUFB11 |
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DOID:0070177 | spermatogenic failure 22 | HGNC:28569 | Homo sapiens (human) | 254528 | MEIOB |
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DOID:0111970 | immunodeficiency 10 | HGNC:11386 | Homo sapiens (human) | 6786 | STIM1 |
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DOID:0070149 | hereditary sensory and autonomic neuropathy type 7 | HGNC:10583 | Homo sapiens (human) | 11280 | SCN11A |
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DOID:0080286 | spinocerebellar ataxia 44 | HGNC:4593 | Homo sapiens (human) | 2911 | GRM1 |
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DOID:0112202 | developmental and epileptic encephalopathy | HGNC:11018 | Homo sapiens (human) | 140679 | SLC32A1 |
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DOID:0111292 | idiopathic generalized epilepsy 10 | HGNC:4084 | Homo sapiens (human) | 2563 | GABRD |
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DOID:0050650 | familial atrial fibrillation | HGNC:10589 | Homo sapiens (human) | 6327 | SCN2B |
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DOID:0111992 | immunodeficiency 53 | HGNC:9956 | Homo sapiens (human) | 5971 | RELB |
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DOID:526 | human immunodeficiency virus infectious disease | HGNC:5438 | Homo sapiens (human) | 3458 | IFNG |
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DOID:0111574 | autosomal recessive woolly hair 3 | HGNC:30839 | Homo sapiens (human) | 147183 | KRT25 |
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DOID:0060751 | familial temporal lobe epilepsy 7 | HGNC:9957 | Homo sapiens (human) | 5649 | RELN |
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DOID:0111584 | dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | HGNC:6636 | Homo sapiens (human) | 4000 | LMNA |
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DOID:0080537 | hypermanganesemia with dystonia 2 | HGNC:20858 | Homo sapiens (human) | 23516 | SLC39A14 |
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DOID:0090127 | camptodactyly-arthropathy-coxa vara-pericarditis syndrome | HGNC:9364 | Homo sapiens (human) | 10216 | PRG4 |
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DOID:0070223 | progressive familial intrahepatic cholestasis 3 | HGNC:45 | Homo sapiens (human) | 5244 | ABCB4 |
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DOID:0111835 | congenital nongoitrous hypothyroidism 9 | HGNC:6128 | Homo sapiens (human) | 8471 | IRS4 |
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DOID:0112185 | thyroid dyshormonogenesis 1 | HGNC:11040 | Homo sapiens (human) | 6528 | SLC5A5 |
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DOID:14080 | glucocorticoid-remediable aldosteronism | HGNC:2591 | Homo sapiens (human) | 1584 | CYP11B1 |
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DOID:0070066 | autosomal dominant intellectual developmental disorder 36 | HGNC:9302 | Homo sapiens (human) | 5518 | PPP2R1A |
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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