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:0060799 | syndromic X-linked intellectual disability Lubs type | HGNC:6990 | Homo sapiens (human) | 4204 | MECP2 |
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DOID:0081097 | Rafiq syndrome | HGNC:6823 | Homo sapiens (human) | 11253 | MAN1B1 |
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DOID:0080568 | congenital disorder of glycosylation Iq | HGNC:25812 | Homo sapiens (human) | 79644 | SRD5A3 |
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DOID:0081022 | retinal cone dystrophy 3B | HGNC:19698 | Homo sapiens (human) | 169522 | KCNV2 |
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DOID:0070382 | developmental and epileptic encephalopathy 95 | HGNC:14937 | Homo sapiens (human) | 94005 | PIGS |
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DOID:0080941 | acquired angioedema | HGNC:12823 | Homo sapiens (human) | 7512 | XPNPEP2 |
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DOID:0111287 | psoriasis 13 | HGNC:1343 | Homo sapiens (human) | 10758 | TRAF3IP2 |
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DOID:0060307 | autosomal dominant intellectual developmental disorder | HGNC:1463 | Homo sapiens (human) | 818 | CAMK2G |
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DOID:6364 | migraine | HGNC:3467 | Homo sapiens (human) | 2099 | ESR1 |
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DOID:0050902 | medulloblastoma | HGNC:23694 | Homo sapiens (human) | 23432 | GPR161 |
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DOID:5723 | optic atrophy | HGNC:29622 | Homo sapiens (human) | 27349 | MCAT |
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DOID:0112141 | retinitis pigmentosa 84 | HGNC:17211 | Homo sapiens (human) | 9785 | DHX38 |
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DOID:0110150 | Charcot-Marie-Tooth disease type 1D | HGNC:3239 | Homo sapiens (human) | 1959 | EGR2 |
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DOID:0081350 | congenital myopathy 18 | HGNC:1397 | Homo sapiens (human) | 779 | CACNA1S |
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DOID:0080046 | Stickler syndrome | HGNC:2219 | Homo sapiens (human) | 1299 | COL9A3 |
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DOID:0060374 | orofaciodigital syndrome IV | HGNC:24519 | Homo sapiens (human) | 26123 | TCTN3 |
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DOID:0070517 | retinal macular dystrophy 2 | HGNC:9454 | Homo sapiens (human) | 8842 | PROM1 |
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DOID:0080028 | spondyloepimetaphyseal dysplasia, Strudwick type | HGNC:2200 | Homo sapiens (human) | 1280 | COL2A1 |
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DOID:0111334 | congenital leptin deficiency | HGNC:6553 | Homo sapiens (human) | 3952 | LEP |
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DOID:0111682 | diffuse cystic renal dysplasia | HGNC:19351 | Homo sapiens (human) | 80114 | BICC1 |
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DOID:0112332 | pontocerebellar hypoplasia type 13 | HGNC:1172 | Homo sapiens (human) | 738 | VPS51 |
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DOID:0112204 | developmental and epileptic encephalopathy 68 | HGNC:29947 | Homo sapiens (human) | 22906 | TRAK1 |
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DOID:0111343 | lateral meningocele syndrome | HGNC:7883 | Homo sapiens (human) | 4854 | NOTCH3 |
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DOID:0111349 | hereditary desmoid disease | HGNC:583 | Homo sapiens (human) | 324 | APC |
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DOID:0110307 | hypertrophic cardiomyopathy 1 | HGNC:7577 | Homo sapiens (human) | 4625 | MYH7 |
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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