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:0110957 | Gaucher's disease type I | HGNC:4177 | Homo sapiens (human) | 2629 | GBA1 |
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DOID:14737 | craniofrontonasal syndrome | HGNC:3226 | Homo sapiens (human) | 1947 | EFNB1 |
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DOID:0110280 | autosomal recessive limb-girdle muscular dystrophy type 2F | HGNC:10807 | Homo sapiens (human) | 6444 | SGCD |
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DOID:0110170 | Charcot-Marie-Tooth disease axonal type 2Q | HGNC:23537 | Homo sapiens (human) | 55526 | DHTKD1 |
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DOID:0070346 | neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies | HGNC:24555 | Homo sapiens (human) | 26173 | INTS1 |
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DOID:0050793 | short QT syndrome | HGNC:6251 | Homo sapiens (human) | 3757 | KCNH2 |
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DOID:5419 | schizophrenia | HGNC:5293 | Homo sapiens (human) | 3356 | HTR2A |
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DOID:0060692 | platelet-type bleeding disorder 8 | HGNC:18124 | Homo sapiens (human) | 64805 | P2RY12 |
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DOID:0070356 | visual impairment and progressive phthisis bulbi | HGNC:6897 | Homo sapiens (human) | 4140 | MARK3 |
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DOID:0110248 | cataract 30 | HGNC:12692 | Homo sapiens (human) | 7431 | VIM |
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DOID:0080101 | Compton-North congenital myopathy | HGNC:2171 | Homo sapiens (human) | 1272 | CNTN1 |
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DOID:0110526 | autosomal recessive nonsyndromic deafness 79 | HGNC:26894 | Homo sapiens (human) | 286262 | TPRN |
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DOID:11105 | fundus albipunctatus | HGNC:10024 | Homo sapiens (human) | 6017 | RLBP1 |
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DOID:0070272 | hereditary nonpolyposis colorectal cancer type 5 | HGNC:7329 | Homo sapiens (human) | 2956 | MSH6 |
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DOID:0111274 | CODAS syndrome | HGNC:9479 | Homo sapiens (human) | 9361 | LONP1 |
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DOID:0050766 | choreaacanthocytosis | HGNC:1908 | Homo sapiens (human) | 23230 | VPS13A |
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DOID:0080056 | achondrogenesis type II | HGNC:2200 | Homo sapiens (human) | 1280 | COL2A1 |
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DOID:0110283 | autosomal recessive limb-girdle muscular dystrophy type 2J | HGNC:12403 | Homo sapiens (human) | 7273 | TTN |
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DOID:0050775 | schneckenbecken dysplasia | HGNC:20800 | Homo sapiens (human) | 23169 | SLC35D1 |
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DOID:0070415 | brachycephaly, trichomegaly, and developmental delay | HGNC:10410 | Homo sapiens (human) | 6228 | RPS23 |
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DOID:0050463 | campomelic dysplasia | HGNC:11204 | Homo sapiens (human) | 6662 | SOX9 |
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DOID:0110165 | Charcot-Marie-Tooth disease type 2E | HGNC:7739 | Homo sapiens (human) | 4747 | NEFL |
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DOID:0080197 | congenital muscular dystrophy with cataracts and intellectual disability | HGNC:33882 | Homo sapiens (human) | 51763 | INPP5K |
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DOID:0090113 | RIDDLE syndrome | HGNC:26661 | Homo sapiens (human) | 165918 | RNF168 |
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DOID:0080490 | mucolipidosis type IV | HGNC:13356 | Homo sapiens (human) | 57192 | MCOLN1 |
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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