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:0070296 | primary autosomal recessive microcephaly | HGNC:19181 | Homo sapiens (human) | 9928 | KIF14 |
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DOID:0070157 | hereditary sensory and autonomic neuropathy type 1C | HGNC:11278 | Homo sapiens (human) | 9517 | SPTLC2 |
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DOID:0111808 | linear skin defects with multiple congenital anomalies 1 | HGNC:4837 | Homo sapiens (human) | 3052 | HCCS |
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DOID:0050600 | ABCD syndrome | HGNC:3180 | Homo sapiens (human) | 1910 | EDNRB |
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DOID:0070054 | Vulto-van Silfout-de Vries syndrome | HGNC:14677 | Homo sapiens (human) | 10522 | DEAF1 |
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DOID:0080726 | Ehlers-Danlos syndrome classic type 2 | HGNC:2210 | Homo sapiens (human) | 1290 | COL5A2 |
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DOID:0060577 | 3MC syndrome 3 | HGNC:2220 | Homo sapiens (human) | 10584 | COLEC10 |
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DOID:0111976 | immunodeficiency 9 | HGNC:25896 | Homo sapiens (human) | 84876 | ORAI1 |
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DOID:0080922 | bilateral frontoparietal polymicrogyria | HGNC:4512 | Homo sapiens (human) | 9289 | ADGRG1 |
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DOID:0111903 | thrombophilia due to HRG deficiency | HGNC:5181 | Homo sapiens (human) | 3273 | HRG |
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DOID:0080977 | aortic valve disease 3 | HGNC:17985 | Homo sapiens (human) | 54538 | ROBO4 |
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DOID:0111900 | autosomal dominant thrombophilia due to protein S deficiency | HGNC:9456 | Homo sapiens (human) | 5627 | PROS1 |
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DOID:0110556 | autosomal dominant nonsyndromic deafness 27 | HGNC:9966 | Homo sapiens (human) | 5978 | REST |
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DOID:0070011 | Seckel syndrome 7 | HGNC:14906 | Homo sapiens (human) | 51199 | NIN |
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DOID:0110961 | atypical Gaucher's disease due to saposin c deficiency | HGNC:9498 | Homo sapiens (human) | 5660 | PSAP |
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DOID:14218 | dihydropyrimidine dehydrogenase deficiency | HGNC:3012 | Homo sapiens (human) | 1806 | DPYD |
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DOID:0111452 | progressive myoclonus epilepsy 1A | HGNC:2482 | Homo sapiens (human) | 1476 | CSTB |
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DOID:0080046 | Stickler syndrome | HGNC:2218 | Homo sapiens (human) | 1298 | COL9A2 |
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DOID:0111193 | facioscapulohumeral muscular dystrophy 2 | HGNC:29090 | Homo sapiens (human) | 23347 | SMCHD1 |
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DOID:3649 | pyruvate decarboxylase deficiency | HGNC:9279 | Homo sapiens (human) | 54704 | PDP1 |
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DOID:0111504 | Li-Fraumeni syndrome 2 | HGNC:16627 | Homo sapiens (human) | 11200 | CHEK2 |
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DOID:0070164 | spermatogenic failure 2 | HGNC:7327 | Homo sapiens (human) | 4438 | MSH4 |
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DOID:0070135 | autosomal recessive cutis laxa type IA | HGNC:3602 | Homo sapiens (human) | 10516 | FBLN5 |
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DOID:0081369 | Paget's disease of bone 6 | HGNC:29277 | Homo sapiens (human) | 57592 | ZNF687 |
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DOID:0110389 | retinitis pigmentosa 73 | HGNC:26527 | Homo sapiens (human) | 138050 | HGSNAT |
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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