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:0080054 | achondrogenesis type IA | HGNC:12305 | Homo sapiens (human) | 9321 | TRIP11 |
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DOID:206 | hereditary multiple exostoses | HGNC:3512 | Homo sapiens (human) | 2131 | EXT1 |
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DOID:0060490 | Schimke immuno-osseous dysplasia | HGNC:11102 | Homo sapiens (human) | 50485 | SMARCAL1 |
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DOID:811 | lipodystrophy | HGNC:15832 | Homo sapiens (human) | 26580 | BSCL2 |
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DOID:0081430 | intellectual developmental disorder with autistic features and language delay, with or without seizures | HGNC:30212 | Homo sapiens (human) | 26115 | TANC2 |
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DOID:0110034 | X-linked Alport syndrome | HGNC:2207 | Homo sapiens (human) | 1287 | COL4A5 |
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DOID:0070351 | spinal muscular atrophy with lower extremity predominant 1 | HGNC:2961 | Homo sapiens (human) | 1778 | DYNC1H1 |
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DOID:0060690 | autosomal dominant auditory neuropathy 1 | HGNC:15480 | Homo sapiens (human) | 81624 | DIAPH3 |
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DOID:0060227 | Adams-Oliver syndrome | HGNC:5724 | Homo sapiens (human) | 3516 | RBPJ |
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DOID:0110862 | congenital stationary night blindness autosomal dominant 1 | HGNC:10012 | Homo sapiens (human) | 6010 | RHO |
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DOID:0112182 | mismatch repair cancer syndrome | HGNC:7329 | Homo sapiens (human) | 2956 | MSH6 |
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DOID:0050683 | Bothnia retinal dystrophy | HGNC:10024 | Homo sapiens (human) | 6017 | RLBP1 |
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DOID:0050629 | Aicardi-Goutieres syndrome | HGNC:225 | Homo sapiens (human) | 103 | ADAR |
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DOID:0070489 | classic dopamine transporter deficiency syndrome | HGNC:11049 | Homo sapiens (human) | 6531 | SLC6A3 |
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DOID:0081168 | HMG-CoA synthase 2 deficiency | HGNC:5008 | Homo sapiens (human) | 3158 | HMGCS2 |
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DOID:0050534 | congenital stationary night blindness | RGD:621535 | Rattus norvegicus (Norway rat) | 114493 | Cacna1f |
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DOID:0080547 | metabolic dysfunction-associated steatohepatitis | HGNC:11180 | Homo sapiens (human) | 6648 | SOD2 |
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DOID:0060733 | junctional epidermolysis bullosa with pyloric atresia | HGNC:6158 | Homo sapiens (human) | 3691 | ITGB4 |
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DOID:0110339 | osteogenesis imperfecta type 3 | HGNC:2198 | Homo sapiens (human) | 1278 | COL1A2 |
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DOID:898 | autosomal dominant polycystic kidney disease | HGNC:6697 | Homo sapiens (human) | 4041 | LRP5 |
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DOID:0070307 | craniolenticulosutural dysplasia | HGNC:10701 | Homo sapiens (human) | 10484 | SEC23A |
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DOID:83 | cataract | HGNC:17992 | Homo sapiens (human) | 80036 | TRPM3 |
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DOID:0111001 | Joubert syndrome 6 | HGNC:28396 | Homo sapiens (human) | 91147 | TMEM67 |
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DOID:5723 | optic atrophy | HGNC:8140 | Homo sapiens (human) | 4976 | OPA1 |
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DOID:684 | hepatocellular carcinoma | HGNC:7794 | Homo sapiens (human) | 4790 | NFKB1 |
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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