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:0081155 | common variable immunodeficiency 13 | HGNC:13176 | Homo sapiens (human) | 10320 | IKZF1 |
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DOID:0070390 | developmental and epileptic encephalopathy 104 | HGNC:865 | Homo sapiens (human) | 535 | ATP6V0A1 |
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DOID:0060010 | Omenn syndrome | HGNC:17642 | Homo sapiens (human) | 64421 | DCLRE1C |
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DOID:0110960 | Gaucher's disease perinatal lethal | HGNC:4177 | Homo sapiens (human) | 2629 | GBA1 |
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DOID:12347 | osteogenesis imperfecta | HGNC:23697 | Homo sapiens (human) | 23187 | PHLDB1 |
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DOID:0080766 | erythrokeratodermia variabilis et progressiva 6 | HGNC:17993 | Homo sapiens (human) | 54795 | TRPM4 |
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DOID:9074 | systemic lupus erythematosus | HGNC:2336 | Homo sapiens (human) | 1380 | CR2 |
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DOID:0111127 | nephronophthisis 20 | HGNC:29536 | Homo sapiens (human) | 23005 | MAPKBP1 |
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DOID:12117 | pulmonary alveolar microlithiasis | HGNC:11020 | Homo sapiens (human) | 10568 | SLC34A2 |
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DOID:0111458 | galactose epimerase deficiency | HGNC:4116 | Homo sapiens (human) | 2582 | GALE |
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DOID:0111549 | aplasia of lacrimal and salivary glands | HGNC:3666 | Homo sapiens (human) | 2255 | FGF10 |
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DOID:0080489 | GM1 gangliosidosis type 3 | HGNC:4298 | Homo sapiens (human) | 2720 | GLB1 |
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DOID:0080430 | developmental and epileptic encephalopathy 65 | HGNC:13760 | Homo sapiens (human) | 26999 | CYFIP2 |
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DOID:0070233 | Loeys-Dietz syndrome 4 | HGNC:11768 | Homo sapiens (human) | 7042 | TGFB2 |
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DOID:0050580 | hereditary lymphedema | HGNC:28993 | Homo sapiens (human) | 9780 | PIEZO1 |
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DOID:0090081 | hypogonadotropic hypogonadism 22 with or without anosmia | HGNC:22788 | Homo sapiens (human) | 389549 | FEZF1 |
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DOID:0110771 | hereditary spastic paraplegia 18 | HGNC:1356 | Homo sapiens (human) | 11160 | ERLIN2 |
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DOID:0110296 | autosomal recessive limb-girdle muscular dystrophy type 2M | HGNC:3622 | Homo sapiens (human) | 2218 | FKTN |
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DOID:0110402 | retinitis pigmentosa 45 | HGNC:2151 | Homo sapiens (human) | 1258 | CNGB1 |
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DOID:612 | primary immunodeficiency disease | HGNC:16391 | Homo sapiens (human) | 64170 | CARD9 |
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DOID:0080789 | Treacher Collins syndrome 1 | HGNC:11654 | Homo sapiens (human) | 6949 | TCOF1 |
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DOID:0111827 | X-linked spinal muscular atrophy 2 | HGNC:12469 | Homo sapiens (human) | 7317 | UBA1 |
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DOID:12700 | hyperprolactinemia | HGNC:9446 | Homo sapiens (human) | 5618 | PRLR |
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DOID:0112133 | severe congenital neutropenia 3 | HGNC:16915 | Homo sapiens (human) | 10456 | HAX1 |
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DOID:0090015 | Cenani-Lenz syndactyly syndrome | HGNC:6696 | Homo sapiens (human) | 4038 | LRP4 |
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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
This work is licensed under Creative Commons Attribution 4.0 International
GlyCosmos Portal v4.1.0
Last updated: December 9, 2024