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:0111139 | mitochondrial complex III deficiency | HGNC:12587 | Homo sapiens (human) | 7386 | UQCRFS1 |
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DOID:0050591 | tooth agenesis | HGNC:13829 | Homo sapiens (human) | 80326 | WNT10A |
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DOID:0080334 | aortic valve disease 2 | HGNC:6772 | Homo sapiens (human) | 4091 | SMAD6 |
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DOID:0080410 | familial adenomatous polyposis 2 | HGNC:7527 | Homo sapiens (human) | 4595 | MUTYH |
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DOID:4621 | holoprosencephaly | HGNC:29185 | Homo sapiens (human) | 23007 | PLCH1 |
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DOID:0050587 | trichotillomania | HGNC:20297 | Homo sapiens (human) | 114798 | SLITRK1 |
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DOID:0111805 | syndromic microphthalmia 6 | HGNC:1071 | Homo sapiens (human) | 652 | BMP4 |
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DOID:0080140 | multiple congenital anomalies-hypotonia-seizures syndrome 3 | HGNC:14938 | Homo sapiens (human) | 51604 | PIGT |
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DOID:526 | human immunodeficiency virus infectious disease | HGNC:1603 | Homo sapiens (human) | 729230 | CCR2 |
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DOID:612 | primary immunodeficiency disease | HGNC:30227 | Homo sapiens (human) | 84888 | SPPL2A |
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DOID:10123 | pigmentation disease | HGNC:745 | Homo sapiens (human) | 434 | ASIP |
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DOID:0111122 | nephronophthisis 14 | HGNC:16762 | Homo sapiens (human) | 23090 | ZNF423 |
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DOID:0110465 | autosomal recessive nonsyndromic deafness 104 | HGNC:13872 | Homo sapiens (human) | 9750 | RIPOR2 |
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DOID:0050580 | hereditary lymphedema | HGNC:485 | Homo sapiens (human) | 285 | ANGPT2 |
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DOID:0112198 | spondyloepimetaphyseal dysplasia with joint laxity type 1 | HGNC:17978 | Homo sapiens (human) | 126792 | B3GALT6 |
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DOID:0111865 | MEND syndrome | HGNC:3133 | Homo sapiens (human) | 10682 | EBP |
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DOID:0081151 | common variable immunodeficiency 8 | HGNC:1742 | Homo sapiens (human) | 987 | LRBA |
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DOID:0080455 | developmental and epileptic encephalopathy 52 | HGNC:10586 | Homo sapiens (human) | 6324 | SCN1B |
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DOID:612 | primary immunodeficiency disease | HGNC:12016 | Homo sapiens (human) | 7174 | TPP2 |
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DOID:0060019 | coronin-1A deficiency | HGNC:2252 | Homo sapiens (human) | 11151 | CORO1A |
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DOID:0110819 | hereditary spastic paraplegia 74 | HGNC:27302 | Homo sapiens (human) | 200205 | IBA57 |
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DOID:0080526 | bronchiectasis 1 | HGNC:10600 | Homo sapiens (human) | 6338 | SCNN1B |
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DOID:0080280 | gingival fibromatosis 5 | HGNC:9966 | Homo sapiens (human) | 5978 | REST |
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DOID:655 | inherited metabolic disorder | HGNC:14409 | Homo sapiens (human) | 60386 | SLC25A19 |
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DOID:0050963 | spinocerebellar ataxia type 13 | HGNC:6235 | Homo sapiens (human) | 3748 | KCNC3 |
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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