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:612 | primary immunodeficiency disease | HGNC:6024 | Homo sapiens (human) | 3575 | IL7R |
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DOID:2218 | blood platelet disease | HGNC:12013 | Homo sapiens (human) | 7171 | TPM4 |
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DOID:0112347 | hereditary spastic paraplegia 84 | HGNC:8983 | Homo sapiens (human) | 5297 | PI4KA |
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DOID:0110813 | hereditary spastic paraplegia 62 | HGNC:16947 | Homo sapiens (human) | 10613 | ERLIN1 |
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DOID:0050439 | Usher syndrome | HGNC:24102 | Homo sapiens (human) | 22901 | ARSG |
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DOID:10825 | essential hypertension | HGNC:9603 | Homo sapiens (human) | 5740 | PTGIS |
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DOID:0081270 | Smith-McCort dysplasia 1 | HGNC:21317 | Homo sapiens (human) | 54808 | DYM |
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DOID:0111800 | syndromic microphthalmia 12 | HGNC:9865 | Homo sapiens (human) | 5915 | RARB |
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DOID:0110360 | retinitis pigmentosa 39 | HGNC:12601 | Homo sapiens (human) | 7399 | USH2A |
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DOID:0080074 | neural tube defect | HGNC:11515 | Homo sapiens (human) | 6862 | TBXT |
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DOID:0081205 | autosomal recessive intellectual developmental disorder 40 | HGNC:11536 | Homo sapiens (human) | 6873 | TAF2 |
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DOID:0080045 | Kniest dysplasia | HGNC:2200 | Homo sapiens (human) | 1280 | COL2A1 |
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DOID:0111788 | Melnick-Needles syndrome | HGNC:3754 | Homo sapiens (human) | 2316 | FLNA |
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DOID:9562 | primary ciliary dyskinesia | HGNC:29368 | Homo sapiens (human) | 85452 | CFAP74 |
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DOID:0110267 | cataract 44 | HGNC:6708 | Homo sapiens (human) | 4047 | LSS |
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DOID:0060276 | pontocerebellar hypoplasia type 7 | HGNC:15954 | Homo sapiens (human) | 114034 | TOE1 |
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DOID:11830 | myopia | HGNC:13869 | Homo sapiens (human) | 84695 | LOXL3 |
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DOID:0111411 | exudative vitreoretinopathy 4 | HGNC:6697 | Homo sapiens (human) | 4041 | LRP5 |
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DOID:0111513 | metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome | HGNC:10472 | Homo sapiens (human) | 860 | RUNX2 |
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DOID:0050546 | congenital adrenal insufficiency | HGNC:2590 | Homo sapiens (human) | 1583 | CYP11A1 |
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DOID:0112006 | immunodeficiency 69 | HGNC:5438 | Homo sapiens (human) | 3458 | IFNG |
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DOID:0060669 | cerebral cavernous malformation | HGNC:8975 | Homo sapiens (human) | 5290 | PIK3CA |
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DOID:0111359 | large congenital melanocytic nevus | HGNC:5173 | Homo sapiens (human) | 3265 | HRAS |
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DOID:9410 | panhypopituitarism | HGNC:8522 | Homo sapiens (human) | 5015 | OTX2 |
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DOID:0111936 | immunodeficiency 14 | HGNC:8977 | Homo sapiens (human) | 5293 | PIK3CD |
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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