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:0111780 | TARP syndrome | HGNC:9896 | Homo sapiens (human) | 8241 | RBM10 |
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DOID:0111905 | autosomal recessive thrombophilia due to protein S deficiency | HGNC:9456 | Homo sapiens (human) | 5627 | PROS1 |
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DOID:0110312 | hypertrophic cardiomyopathy 6 | HGNC:9386 | Homo sapiens (human) | 51422 | PRKAG2 |
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DOID:4644 | epidermolysis bullosa simplex | HGNC:1630 | Homo sapiens (human) | 977 | CD151 |
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DOID:13810 | familial hypercholesterolemia | HGNC:3402 | Homo sapiens (human) | 2053 | EPHX2 |
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DOID:0111582 | hereditary arterial and articular multiple calcification syndrome | HGNC:8021 | Homo sapiens (human) | 4907 | NT5E |
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DOID:0060227 | Adams-Oliver syndrome | HGNC:7881 | Homo sapiens (human) | 4851 | NOTCH1 |
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DOID:0060653 | lethal congenital contracture syndrome 3 | HGNC:8996 | Homo sapiens (human) | 23396 | PIP5K1C |
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DOID:0060256 | Dowling-Degos disease | HGNC:6442 | Homo sapiens (human) | 3852 | KRT5 |
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DOID:0110392 | retinitis pigmentosa 70 | HGNC:17349 | Homo sapiens (human) | 9128 | PRPF4 |
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DOID:0110054 | amelogenesis imperfecta type 1A | HGNC:6490 | Homo sapiens (human) | 3914 | LAMB3 |
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DOID:2841 | asthma | HGNC:17020 | Homo sapiens (human) | 11213 | IRAK3 |
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DOID:0110521 | autosomal recessive nonsyndromic deafness 70 | HGNC:23166 | Homo sapiens (human) | 87178 | PNPT1 |
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DOID:0070224 | progressive familial intrahepatic cholestasis 4 | HGNC:11828 | Homo sapiens (human) | 9414 | TJP2 |
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DOID:8632 | Kaposi's sarcoma | HGNC:6018 | Homo sapiens (human) | 3569 | IL6 |
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DOID:0110399 | retinitis pigmentosa 37 | HGNC:7974 | Homo sapiens (human) | 10002 | NR2E3 |
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DOID:0081421 | familial focal epilepsy with variable foci 1 | HGNC:18423 | Homo sapiens (human) | 9681 | DEPDC5 |
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DOID:0080484 | peroxisome biogenesis disorder 10A | HGNC:8858 | Homo sapiens (human) | 8504 | PEX3 |
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DOID:0111907 | thrombophilia due to thrombin defect | HGNC:3535 | Homo sapiens (human) | 2147 | F2 |
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DOID:0111566 | familial isolated trichomegaly | HGNC:3683 | Homo sapiens (human) | 2250 | FGF5 |
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DOID:0070232 | benign recurrent intrahepatic cholestasis 2 | HGNC:42 | Homo sapiens (human) | 8647 | ABCB11 |
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DOID:0080138 | multiple congenital anomalies-hypotonia-seizures syndrome 1 | HGNC:8967 | Homo sapiens (human) | 23556 | PIGN |
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DOID:0111743 | cerebellar ataxia type 47 | HGNC:14957 | Homo sapiens (human) | 9698 | PUM1 |
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DOID:0080716 | infantile liver failure syndrome | HGNC:21876 | Homo sapiens (human) | 60561 | RINT1 |
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DOID:0090050 | dystonia 27 | HGNC:2213 | Homo sapiens (human) | 1293 | COL6A3 |
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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