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:0070220 | familial hyperinsulinemic hypoglycemia 5 | HGNC:6091 | Homo sapiens (human) | 3643 | INSR |
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DOID:0090085 | hypogonadotropic hypogonadism 9 with or without anosmia | HGNC:29843 | Homo sapiens (human) | 26012 | NSMF |
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DOID:0111186 | myopathy, lactic acidosis, and sideroblastic anemia 2 | HGNC:24249 | Homo sapiens (human) | 51067 | YARS2 |
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DOID:0080388 | nephrotic syndrome type 7 | HGNC:2852 | Homo sapiens (human) | 8526 | DGKE |
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DOID:0080428 | developmental and epileptic encephalopathy 45 | HGNC:4081 | Homo sapiens (human) | 2560 | GABRB1 |
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DOID:0070388 | developmental and epileptic encephalopathy 102 | HGNC:18044 | Homo sapiens (human) | 10991 | SLC38A3 |
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DOID:0111434 | optic atrophy 10 | HGNC:18647 | Homo sapiens (human) | 84816 | RTN4IP1 |
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DOID:0060766 | autosomal dominant Robinow syndrome 1 | HGNC:12784 | Homo sapiens (human) | 7474 | WNT5A |
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DOID:0070016 | autosomal dominant dyskeratosis congenita 2 | HGNC:11730 | Homo sapiens (human) | 7015 | TERT |
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DOID:0050440 | familial partial lipodystrophy | HGNC:281 | Homo sapiens (human) | 150 | ADRA2A |
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DOID:612 | primary immunodeficiency disease | HGNC:16422 | Homo sapiens (human) | 29775 | CARD10 |
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DOID:0090092 | hypogonadotropic hypogonadism 3 with or without anosmia | HGNC:15836 | Homo sapiens (human) | 128674 | PROKR2 |
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DOID:14768 | Saethre-Chotzen syndrome | HGNC:3689 | Homo sapiens (human) | 2263 | FGFR2 |
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DOID:0111039 | hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | HGNC:343 | Homo sapiens (human) | 191 | AHCY |
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DOID:0081398 | holoprosencephaly 12 | HGNC:7877 | Homo sapiens (human) | 23019 | CNOT1 |
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DOID:0110168 | Charcot-Marie-Tooth disease type 2Y | HGNC:12666 | Homo sapiens (human) | 7415 | VCP |
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DOID:0070097 | oculocutaneous albinism type III | HGNC:12450 | Homo sapiens (human) | 7306 | TYRP1 |
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DOID:0070389 | developmental and epileptic encephalopathy 103 | HGNC:6234 | Homo sapiens (human) | 3747 | KCNC2 |
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DOID:0080445 | developmental and epileptic encephalopathy 13 | HGNC:10596 | Homo sapiens (human) | 6334 | SCN8A |
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DOID:0090083 | hypogonadotropic hypogonadism 2 with or without anosmia | HGNC:3688 | Homo sapiens (human) | 2260 | FGFR1 |
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DOID:0110025 | age related macular degeneration 13 | HGNC:5394 | Homo sapiens (human) | 3426 | CFI |
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DOID:0111864 | autosomal recessive congenital bilateral absence of vas deferens | HGNC:1884 | Homo sapiens (human) | 1080 | CFTR |
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DOID:0070221 | progressive familial intrahepatic cholestasis | HGNC:12712 | Homo sapiens (human) | 26276 | VPS33B |
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DOID:0080984 | X-linked intellectual developmental disorder 109 | HGNC:3776 | Homo sapiens (human) | 2334 | AFF2 |
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DOID:0111614 | autosomal recessive spinocerebellar ataxia 22 | HGNC:28385 | Homo sapiens (human) | 200403 | VWA3B |
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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