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:9269 | maple syrup urine disease | HGNC:986 | Homo sapiens (human) | 593 | BCKDHA |
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DOID:0050811 | congenital adrenal hyperplasia | HGNC:2591 | Homo sapiens (human) | 1584 | CYP11B1 |
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DOID:0050848 | obstructive sleep apnea | HGNC:2707 | Homo sapiens (human) | 1636 | ACE |
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DOID:0050605 | acrodermatitis enteropathica | HGNC:17129 | Homo sapiens (human) | 55630 | SLC39A4 |
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DOID:0060296 | congenital secretory chloride diarrhea 1 | HGNC:3018 | Homo sapiens (human) | 1811 | SLC26A3 |
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DOID:0110838 | Usher syndrome type 2A | HGNC:12601 | Homo sapiens (human) | 7399 | USH2A |
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DOID:0111066 | congenital bile acid synthesis defect 5 | HGNC:67 | Homo sapiens (human) | 5825 | ABCD3 |
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DOID:783 | end stage renal disease | HGNC:2707 | Homo sapiens (human) | 1636 | ACE |
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DOID:0050663 | Bethlem myopathy | HGNC:2211 | Homo sapiens (human) | 1291 | COL6A1 |
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DOID:9352 | type 2 diabetes mellitus | HGNC:8724 | Homo sapiens (human) | 5105 | PCK1 |
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DOID:12716 | newborn respiratory distress syndrome | HGNC:10798 | Homo sapiens (human) | 653509 | SFTPA1 |
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DOID:0112224 | chondrodysplasia with joint dislocations gPAPP type | HGNC:26019 | Homo sapiens (human) | 54928 | BPNT2 |
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DOID:0060363 | glycerol kinase deficiency | HGNC:4289 | Homo sapiens (human) | 2710 | GK |
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DOID:10487 | Hirschsprung's disease | HGNC:9967 | Homo sapiens (human) | 5979 | RET |
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DOID:0050754 | ataxia with oculomotor apraxia type 1 | HGNC:15984 | Homo sapiens (human) | 54840 | APTX |
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DOID:0110403 | retinitis pigmentosa 13 | HGNC:17340 | Homo sapiens (human) | 10594 | PRPF8 |
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DOID:2226 | myeloproliferative neoplasm | HGNC:8804 | Homo sapiens (human) | 5159 | PDGFRB |
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DOID:13133 | HELLP syndrome | HGNC:11936 | Homo sapiens (human) | 356 | FASLG |
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DOID:0060227 | Adams-Oliver syndrome | HGNC:2910 | Homo sapiens (human) | 54567 | DLL4 |
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DOID:0060488 | Pitt-Hopkins syndrome | HGNC:11634 | Homo sapiens (human) | 6925 | TCF4 |
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DOID:0111590 | Cohen syndrome | HGNC:2183 | Homo sapiens (human) | 157680 | VPS13B |
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DOID:0110922 | familial hemophagocytic lymphohistiocytosis 2 | HGNC:9360 | Homo sapiens (human) | 5551 | PRF1 |
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DOID:0050742 | nicotine dependence | HGNC:5293 | Homo sapiens (human) | 3356 | HTR2A |
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DOID:2231 | factor XII deficiency | HGNC:3530 | Homo sapiens (human) | 2161 | F12 |
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DOID:0110832 | Usher syndrome type 1F | HGNC:14674 | Homo sapiens (human) | 65217 | PCDH15 |
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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