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:4795 | GM2 gangliosidosis, AB variant | HGNC:4367 | Homo sapiens (human) | 2760 | GM2A |
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DOID:0080047 | pseudoachondroplasia | HGNC:2227 | Homo sapiens (human) | 1311 | COMP |
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DOID:0111102 | maturity-onset diabetes of the young type 3 | HGNC:11621 | Homo sapiens (human) | 6927 | HNF1A |
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DOID:0060234 | Carpenter syndrome | HGNC:3233 | Homo sapiens (human) | 1954 | MEGF8 |
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DOID:0111254 | glutaric acidemia I | HGNC:4189 | Homo sapiens (human) | 2639 | GCDH |
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DOID:12704 | ataxia telangiectasia | HGNC:795 | Homo sapiens (human) | 472 | ATM |
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DOID:0110184 | Charcot-Marie-Tooth disease type 4J | HGNC:16873 | Homo sapiens (human) | 9896 | FIG4 |
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DOID:0110090 | short-rib thoracic dysplasia 7 with or without polydactyly | HGNC:29250 | Homo sapiens (human) | 57539 | WDR35 |
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DOID:0080139 | multiple congenital anomalies-hypotonia-seizures syndrome 2 | HGNC:8957 | Homo sapiens (human) | 5277 | PIGA |
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DOID:0090016 | chromosome 5q deletion syndrome | HGNC:10387 | Homo sapiens (human) | 6208 | RPS14 |
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DOID:0060275 | pontocerebellar hypoplasia type 6 | HGNC:21406 | Homo sapiens (human) | 57038 | RARS2 |
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DOID:0050633 | ocular albinism 1 | HGNC:20145 | Homo sapiens (human) | 4935 | GPR143 |
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DOID:3981 | pantothenate kinase-associated neurodegeneration | HGNC:15894 | Homo sapiens (human) | 80025 | PANK2 |
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DOID:0060212 | amyotrophic lateral sclerosis type 21 | HGNC:6912 | Homo sapiens (human) | 9782 | MATR3 |
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DOID:0080390 | nephrotic syndrome type 1 | HGNC:7908 | Homo sapiens (human) | 4868 | NPHS1 |
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DOID:0110480 | autosomal recessive nonsyndromic deafness 22 | HGNC:16378 | Homo sapiens (human) | 146183 | OTOA |
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DOID:0110081 | arrhythmogenic right ventricular dysplasia 10 | HGNC:3049 | Homo sapiens (human) | 1829 | DSG2 |
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DOID:0112102 | Sotos syndrome 2 | HGNC:7788 | Homo sapiens (human) | 4784 | NFIX |
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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:0090032 | Silverman-Handmaker type dyssegmental dysplasia | HGNC:5273 | Homo sapiens (human) | 3339 | HSPG2 |
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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:0060578 | Noonan syndrome 1 | HGNC:9644 | Homo sapiens (human) | 5781 | PTPN11 |
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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