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:0060697 | hyperekplexia 2 | HGNC:4329 | Homo sapiens (human) | 2743 | GLRB |
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DOID:0110120 | Axenfeld-Rieger syndrome type 1 | HGNC:9005 | Homo sapiens (human) | 5308 | PITX2 |
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DOID:6364 | migraine | HGNC:1437 | Homo sapiens (human) | 796 | CALCA |
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DOID:0090032 | Silverman-Handmaker type dyssegmental dysplasia | HGNC:5273 | Homo sapiens (human) | 3339 | HSPG2 |
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DOID:0080074 | neural tube defect | HGNC:21055 | Homo sapiens (human) | 25902 | MTHFD1L |
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DOID:0080467 | developmental and epileptic encephalopathy 2 | HGNC:11411 | Homo sapiens (human) | 6792 | CDKL5 |
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DOID:0060756 | sclerosteosis 1 | HGNC:13771 | Homo sapiens (human) | 50964 | SOST |
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DOID:0110004 | 3-methylglutaconic aciduria type 3 | HGNC:8142 | Homo sapiens (human) | 80207 | OPA3 |
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DOID:0112321 | alacrima, achalasia, and impaired intellectual development syndrome | HGNC:22923 | Homo sapiens (human) | 29926 | GMPPA |
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DOID:0111441 | optic atrophy 1 | HGNC:8140 | Homo sapiens (human) | 4976 | OPA1 |
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DOID:0060578 | Noonan syndrome 1 | HGNC:9644 | Homo sapiens (human) | 5781 | PTPN11 |
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DOID:0050989 | episodic ataxia type 1 | RGD:2949 | Rattus norvegicus (Norway rat) | 24520 | Kcna1 |
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DOID:0070280 | primary autosomal recessive microcephaly 5 | HGNC:19048 | Homo sapiens (human) | 259266 | ASPM |
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DOID:6432 | pulmonary hypertension | HGNC:3374 | Homo sapiens (human) | 2034 | EPAS1 |
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DOID:9970 | obesity | HGNC:2303 | Homo sapiens (human) | 1363 | CPE |
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DOID:0081386 | TANGO2-related metabolic encephalopathy and arrythmias | HGNC:25439 | Homo sapiens (human) | 128989 | TANGO2 |
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DOID:0110958 | Gaucher's disease type II | HGNC:4177 | Homo sapiens (human) | 2629 | GBA1 |
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DOID:0060439 | lysinuric protein intolerance | HGNC:11065 | Homo sapiens (human) | 9056 | SLC7A7 |
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DOID:4183 | pseudopseudohypoparathyroidism | HGNC:4392 | Homo sapiens (human) | 2778 | GNAS |
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DOID:0110336 | osteogenesis imperfecta type 8 | HGNC:19316 | Homo sapiens (human) | 64175 | P3H1 |
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DOID:0050833 | orotic aciduria | HGNC:12563 | Homo sapiens (human) | 7372 | UMPS |
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DOID:0111020 | cone-rod dystrophy 9 | HGNC:216 | Homo sapiens (human) | 8754 | ADAM9 |
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DOID:0050773 | paraganglioma | HGNC:10680 | Homo sapiens (human) | 6389 | SDHA |
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DOID:0110326 | hypertrophic cardiomyopathy 20 | HGNC:29557 | Homo sapiens (human) | 91624 | NEXN |
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DOID:0110383 | retinitis pigmentosa 7 | HGNC:9942 | Homo sapiens (human) | 5961 | PRPH2 |
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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