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:0090129 | carnitine palmitoyltransferase I deficiency | HGNC:2328 | Homo sapiens (human) | 1374 | CPT1A |
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DOID:0111722 | amelogenesis imperfecta type 3C | HGNC:13764 | Homo sapiens (human) | 84957 | RELT |
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DOID:0110372 | retinitis pigmentosa 4 | HGNC:10012 | Homo sapiens (human) | 6010 | RHO |
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DOID:0112050 | non-syndromic X-linked intellectual disability 63 | HGNC:3571 | Homo sapiens (human) | 2182 | ACSL4 |
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DOID:0080633 | developmental cardiac valvular defect | HGNC:9067 | Homo sapiens (human) | 5337 | PLD1 |
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DOID:0080349 | developmental and epileptic encephalopathy 39 | HGNC:10982 | Homo sapiens (human) | 8604 | SLC25A12 |
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DOID:2920 | membranoproliferative glomerulonephritis | HGNC:3778 | Homo sapiens (human) | 2335 | FN1 |
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DOID:0111403 | mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | HGNC:19034 | Homo sapiens (human) | 22983 | MAST1 |
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DOID:0060670 | cerebral cavernous malformation 2 | HGNC:21708 | Homo sapiens (human) | 83605 | CCM2 |
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DOID:1588 | thrombocytopenia | HGNC:9673 | Homo sapiens (human) | 5795 | PTPRJ |
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DOID:0070485 | mitochondrial complex IV deficiency nuclear type 23 | HGNC:2261 | Homo sapiens (human) | 1353 | COX11 |
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DOID:0110371 | retinitis pigmentosa 56 | HGNC:18362 | Homo sapiens (human) | 50939 | IMPG2 |
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DOID:4450 | renal cell carcinoma | HGNC:27310 | Homo sapiens (human) | 201163 | FLCN |
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DOID:0070539 | Halperin-Birk syndrome | HGNC:17052 | Homo sapiens (human) | 22872 | SEC31A |
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DOID:0112051 | non-syndromic X-linked intellectual disability 30 | HGNC:8592 | Homo sapiens (human) | 5063 | PAK3 |
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DOID:0110124 | Bardet-Biedl syndrome 2 | HGNC:967 | Homo sapiens (human) | 583 | BBS2 |
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DOID:0070113 | Niemann-Pick disease type C1 | HGNC:7897 | Homo sapiens (human) | 4864 | NPC1 |
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DOID:0050994 | episodic ataxia type 6 | HGNC:10941 | Homo sapiens (human) | 6507 | SLC1A3 |
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DOID:10587 | Krabbe disease | HGNC:4115 | Homo sapiens (human) | 2581 | GALC |
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DOID:3633 | beta-mannosidosis | HGNC:6831 | Homo sapiens (human) | 4126 | MANBA |
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DOID:0060933 | developmental delay, dysmorphic facies, and brain anomalies | HGNC:23156 | Homo sapiens (human) | 11338 | U2AF2 |
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DOID:0111078 | tibial muscular dystrophy | HGNC:12403 | Homo sapiens (human) | 7273 | TTN |
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DOID:0050660 | Beare-Stevenson cutis gyrata syndrome | HGNC:3689 | Homo sapiens (human) | 2263 | FGFR2 |
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DOID:0111277 | mitochondrial trifunctional protein deficiency | HGNC:4803 | Homo sapiens (human) | 3032 | HADHB |
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DOID:2736 | Hajdu-Cheney syndrome | HGNC:7882 | Homo sapiens (human) | 4853 | NOTCH2 |
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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