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:0070202 | familial partial lipodystrophy type 2 | HGNC:6636 | Homo sapiens (human) | 4000 | LMNA |
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DOID:0110678 | congenital myasthenic syndrome 4A | HGNC:1966 | Homo sapiens (human) | 1145 | CHRNE |
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DOID:0060825 | Christianson syndrome | HGNC:11079 | Homo sapiens (human) | 10479 | SLC9A6 |
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DOID:0110624 | primary ciliary dyskinesia 30 | HGNC:28303 | Homo sapiens (human) | 115948 | ODAD3 |
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DOID:0050588 | muscular dystrophy-dystroglycanopathy type B1 | HGNC:9202 | Homo sapiens (human) | 10585 | POMT1 |
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DOID:1588 | thrombocytopenia | HGNC:4116 | Homo sapiens (human) | 2582 | GALE |
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DOID:0060179 | Renpenning syndrome | HGNC:9330 | Homo sapiens (human) | 10084 | PQBP1 |
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DOID:0110550 | autosomal dominant nonsyndromic deafness 20 | HGNC:144 | Homo sapiens (human) | 71 | ACTG1 |
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DOID:0060835 | isolated microphthalmia 6 | HGNC:39433 | Homo sapiens (human) | 646960 | PRSS56 |
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DOID:0060348 | hypoparathyroidism-retardation-dysmorphism syndrome | HGNC:11582 | Homo sapiens (human) | 6905 | TBCE |
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DOID:0060550 | ablepharon macrostomia syndrome | HGNC:20670 | Homo sapiens (human) | 117581 | TWIST2 |
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DOID:0111149 | autosomal recessive isolated ectopia lentis 2 | HGNC:19706 | Homo sapiens (human) | 54507 | ADAMTSL4 |
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DOID:0050880 | Koolen de Vries syndrome | HGNC:24565 | Homo sapiens (human) | 284058 | KANSL1 |
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DOID:0110352 | retinitis pigmentosa 59 | HGNC:20603 | Homo sapiens (human) | 79947 | DHDDS |
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DOID:0110555 | autosomal dominant nonsyndromic deafness 25 | HGNC:20151 | Homo sapiens (human) | 246213 | SLC17A8 |
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DOID:3635 | congenital myasthenic syndrome | HGNC:11510 | Homo sapiens (human) | 127833 | SYT2 |
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DOID:0110593 | autosomal dominant nonsyndromic deafness 9 | HGNC:2180 | Homo sapiens (human) | 1690 | COCH |
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DOID:0090012 | severe combined immunodeficiency with sensitivity to ionizing radiation | HGNC:17642 | Homo sapiens (human) | 64421 | DCLRE1C |
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DOID:0050778 | Meckel syndrome | HGNC:37234 | Homo sapiens (human) | 79583 | TMEM231 |
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DOID:8354 | complement component 3 deficiency | HGNC:1318 | Homo sapiens (human) | 718 | C3 |
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DOID:0111416 | trichohepatoenteric syndrome 2 | HGNC:10898 | Homo sapiens (human) | 6499 | SKIC2 |
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DOID:0110666 | congenital myasthenic syndrome 3A | HGNC:1965 | Homo sapiens (human) | 1144 | CHRND |
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DOID:0060647 | fetal encasement syndrome | HGNC:1974 | Homo sapiens (human) | 1147 | CHUK |
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DOID:0110467 | autosomal recessive nonsyndromic deafness 12 | HGNC:13733 | Homo sapiens (human) | 64072 | CDH23 |
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DOID:988 | mitral valve prolapse | HGNC:13681 | Homo sapiens (human) | 8642 | DCHS1 |
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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