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:0060307 | autosomal dominant intellectual developmental disorder | HGNC:10760 | Homo sapiens (human) | 6418 | SET |
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DOID:0112012 | X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques | HGNC:15455 | Homo sapiens (human) | 51360 | MBTPS2 |
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DOID:0060366 | Hennekam syndrome | HGNC:29426 | Homo sapiens (human) | 147372 | CCBE1 |
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DOID:0112148 | Uruguay faciocardiomusculoskeletal syndrome | HGNC:3702 | Homo sapiens (human) | 2273 | FHL1 |
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DOID:0112295 | spondylometaphyseal dysplasia | HGNC:124 | Homo sapiens (human) | 54 | ACP5 |
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DOID:0050968 | autosomal dominant cerebellar ataxia, deafness and narcolepsy | HGNC:2976 | Homo sapiens (human) | 1786 | DNMT1 |
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DOID:0060175 | succinic semialdehyde dehydrogenase deficiency | HGNC:408 | Homo sapiens (human) | 7915 | ALDH5A1 |
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DOID:0111480 | combined oxidative phosphorylation deficiency 10 | HGNC:19261 | Homo sapiens (human) | 25821 | MTO1 |
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DOID:0111758 | Y-linked deafness 2 | HGNC:18502 | Homo sapiens (human) | 90665 | TBL1Y |
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DOID:0081154 | common variable immunodeficiency 12 | HGNC:7794 | Homo sapiens (human) | 4790 | NFKB1 |
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DOID:0080393 | nephrotic syndrome type 18 | HGNC:18016 | Homo sapiens (human) | 55746 | NUP133 |
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DOID:6846 | familial melanoma | HGNC:6929 | Homo sapiens (human) | 4157 | MC1R |
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DOID:0111277 | mitochondrial trifunctional protein deficiency | HGNC:4801 | Homo sapiens (human) | 3030 | HADHA |
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DOID:0060309 | syndromic X-linked intellectual disability | HGNC:29873 | Homo sapiens (human) | 79576 | NKAP |
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DOID:0050565 | autosomal recessive nonsyndromic deafness | HGNC:33914 | Homo sapiens (human) | 100127206 | MINAR2 |
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DOID:0110196 | Charcot-Marie-Tooth disease type 4G | HGNC:4922 | Homo sapiens (human) | 3098 | HK1 |
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DOID:0060645 | chronic recurrent multifocal osteomyelitis | HGNC:14450 | Homo sapiens (human) | 9663 | LPIN2 |
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DOID:0112008 | pituitary adenoma 5 | HGNC:13733 | Homo sapiens (human) | 64072 | CDH23 |
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DOID:0060708 | lymphoproliferative syndrome 2 | HGNC:11922 | Homo sapiens (human) | 939 | CD27 |
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DOID:0111183 | familial hemiplegic migraine 3 | HGNC:10585 | Homo sapiens (human) | 6323 | SCN1A |
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DOID:0060610 | megacystis-microcolon-intestinal hypoperistalsis syndrome | HGNC:7590 | Homo sapiens (human) | 4638 | MYLK |
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DOID:0060754 | familial temporal lobe epilepsy 8 | HGNC:4114 | Homo sapiens (human) | 51083 | GAL |
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DOID:0090093 | hypogonadotropic hypogonadism 21 with or without anosmia | HGNC:3762 | Homo sapiens (human) | 23767 | FLRT3 |
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DOID:0080437 | developmental and epileptic encephalopathy 31A | HGNC:2972 | Homo sapiens (human) | 1759 | DNM1 |
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DOID:0070112 | Niemann-Pick disease type B | HGNC:11120 | Homo sapiens (human) | 6609 | SMPD1 |
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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