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:3649 | pyruvate decarboxylase deficiency | HGNC:2896 | Homo sapiens (human) | 1737 | DLAT |
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DOID:0070339 | cerebellar hyplasia/atrophy, epilepsy, and global developmental delay | HGNC:15822 | Homo sapiens (human) | 55074 | OXR1 |
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DOID:0070299 | multiple epiphyseal dysplasia 5 | HGNC:6909 | Homo sapiens (human) | 4148 | MATN3 |
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DOID:0050989 | episodic ataxia type 1 | HGNC:6218 | Homo sapiens (human) | 3736 | KCNA1 |
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DOID:0110728 | neuronal ceroid lipofuscinosis 5 | HGNC:2076 | Homo sapiens (human) | 1203 | CLN5 |
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DOID:0110945 | autosomal recessive osteopetrosis 6 | HGNC:29017 | Homo sapiens (human) | 9842 | PLEKHM1 |
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DOID:0111181 | familial hemiplegic migraine 1 | HGNC:1388 | Homo sapiens (human) | 773 | CACNA1A |
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DOID:0110852 | rhizomelic chondrodysplasia punctata type 2 | HGNC:4416 | Homo sapiens (human) | 8443 | GNPAT |
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DOID:0111223 | centronuclear myopathy 1 | HGNC:2974 | Homo sapiens (human) | 1785 | DNM2 |
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DOID:0111083 | Fanconi anemia complementation group D2 | HGNC:3585 | Homo sapiens (human) | 2177 | FANCD2 |
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DOID:0111155 | autosomal recessive spinocerebellar ataxia 21 | HGNC:14372 | Homo sapiens (human) | 57410 | SCYL1 |
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DOID:0080422 | Dravet syndrome | HGNC:10585 | Homo sapiens (human) | 6323 | SCN1A |
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DOID:0111074 | progressive familial heart block type IA | HGNC:10593 | Homo sapiens (human) | 6331 | SCN5A |
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DOID:0111918 | spermatogenic failure 40 | HGNC:25325 | Homo sapiens (human) | 255101 | CFAP65 |
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DOID:0060370 | Parkinson's disease 7 | HGNC:16369 | Homo sapiens (human) | 11315 | PARK7 |
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DOID:3783 | Coffin-Lowry syndrome | HGNC:10432 | Homo sapiens (human) | 6197 | RPS6KA3 |
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DOID:0110481 | autosomal recessive nonsyndromic deafness 23 | HGNC:14674 | Homo sapiens (human) | 65217 | PCDH15 |
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DOID:0070444 | neurodevelopmental disorder with language delay and seizures | HGNC:11805 | Homo sapiens (human) | 7074 | TIAM1 |
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DOID:3535 | Unverricht-Lundborg syndrome | HGNC:2482 | Homo sapiens (human) | 1476 | CSTB |
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DOID:2741 | bilirubin metabolic disorder | HGNC:10959 | Homo sapiens (human) | 10599 | SLCO1B1 |
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DOID:0111960 | immunodeficiency 15A | HGNC:5960 | Homo sapiens (human) | 3551 | IKBKB |
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DOID:0080498 | ovarian dysgenesis 6 | HGNC:29914 | Homo sapiens (human) | 57122 | NUP107 |
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DOID:0110605 | primary ciliary dyskinesia 7 | HGNC:2942 | Homo sapiens (human) | 8701 | DNAH11 |
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DOID:0080698 | Teebi hypertelorism syndrome 1 | HGNC:29022 | Homo sapiens (human) | 23384 | SPECC1L |
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DOID:0090140 | cortisone reductase deficiency 2 | HGNC:5208 | Homo sapiens (human) | 3290 | HSD11B1 |
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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