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:0110171 | Charcot-Marie-Tooth disease axonal type 2S | HGNC:5542 | Homo sapiens (human) | 3508 | IGHMBP2 |
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DOID:3413 | alpha-mannosidosis | HGNC:6826 | Homo sapiens (human) | 4125 | MAN2B1 |
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DOID:0050454 | periventricular nodular heterotopia | HGNC:3754 | Homo sapiens (human) | 2316 | FLNA |
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DOID:0110950 | Waardenburg syndrome type 2A | HGNC:7105 | Homo sapiens (human) | 4286 | MITF |
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DOID:14756 | vascular type Ehlers-Danlos syndrome | HGNC:2201 | Homo sapiens (human) | 1281 | COL3A1 |
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DOID:10763 | hypertension | HGNC:800 | Homo sapiens (human) | 477 | ATP1A2 |
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DOID:13543 | hyperparathyroidism | HGNC:16783 | Homo sapiens (human) | 79577 | CDC73 |
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DOID:0110477 | autosomal recessive nonsyndromic deafness 2 | HGNC:7606 | Homo sapiens (human) | 4647 | MYO7A |
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DOID:0111926 | spermatogenic failure 39 | HGNC:2946 | Homo sapiens (human) | 8632 | DNAH17 |
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DOID:289 | endometriosis | HGNC:8910 | Homo sapiens (human) | 5241 | PGR |
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DOID:0070045 | Coffin-Siris syndrome 3 | HGNC:11103 | Homo sapiens (human) | 6598 | SMARCB1 |
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DOID:0112061 | immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | HGNC:9802 | Homo sapiens (human) | 5880 | RAC2 |
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DOID:10763 | hypertension | HGNC:3179 | Homo sapiens (human) | 1909 | EDNRA |
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DOID:0110366 | retinitis pigmentosa 33 | HGNC:30859 | Homo sapiens (human) | 23020 | SNRNP200 |
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DOID:0110375 | retinitis pigmentosa 40 | HGNC:8786 | Homo sapiens (human) | 5158 | PDE6B |
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DOID:0060537 | mitochondrial complex II deficiency | HGNC:10683 | Homo sapiens (human) | 6392 | SDHD |
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DOID:0060479 | Shwachman-Diamond syndrome | HGNC:25789 | Homo sapiens (human) | 79631 | EFL1 |
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DOID:0111457 | STING-associated vasculopathy with onset in infancy | HGNC:27962 | Homo sapiens (human) | 340061 | STING1 |
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DOID:11396 | pulmonary edema | HGNC:286 | Homo sapiens (human) | 154 | ADRB2 |
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DOID:0060730 | torsion dystonia 1 | HGNC:3098 | Homo sapiens (human) | 1861 | TOR1A |
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DOID:0110773 | hereditary spastic paraplegia 2 | HGNC:9086 | Homo sapiens (human) | 5354 | PLP1 |
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DOID:0090018 | autosomal dominant familial periodic fever | HGNC:11916 | Homo sapiens (human) | 7132 | TNFRSF1A |
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DOID:0111668 | Kohlschutter-Tonz syndrome | HGNC:29478 | Homo sapiens (human) | 79641 | ROGDI |
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DOID:0110726 | neuronal ceroid lipofuscinosis 2 | HGNC:2073 | Homo sapiens (human) | 1200 | TPP1 |
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DOID:9970 | obesity | HGNC:6554 | Homo sapiens (human) | 3953 | LEPR |
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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