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 | July 29, 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:0050775 | schneckenbecken dysplasia | HGNC:20800 | Homo sapiens (human) | 23169 | SLC35D1 |
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DOID:0110728 | neuronal ceroid lipofuscinosis 5 | HGNC:2076 | Homo sapiens (human) | 1203 | CLN5 |
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DOID:0111671 | primary hyperoxaluria type 2 | HGNC:4570 | Homo sapiens (human) | 9380 | GRHPR |
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DOID:0110210 | Charcot-Marie-Tooth disease X-linked recessive 5 | HGNC:9462 | Homo sapiens (human) | 5631 | PRPS1 |
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DOID:0060537 | mitochondrial complex II deficiency | HGNC:10680 | Homo sapiens (human) | 6389 | SDHA |
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DOID:0111670 | primary hyperoxaluria type 1 | HGNC:341 | Homo sapiens (human) | 189 | AGXT |
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DOID:0090129 | carnitine palmitoyltransferase I deficiency | HGNC:2328 | Homo sapiens (human) | 1374 | CPT1A |
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DOID:0060248 | Simpson-Golabi-Behmel syndrome type 1 | HGNC:4451 | Homo sapiens (human) | 2719 | GPC3 |
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DOID:0080552 | congenital disorder of glycosylation Ia | HGNC:9115 | Homo sapiens (human) | 5373 | PMM2 |
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DOID:0080240 | non-syndromic X-linked intellectual disability 106 | HGNC:8127 | Homo sapiens (human) | 8473 | OGT |
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DOID:0060900 | Parkinson's disease 14 | HGNC:9039 | Homo sapiens (human) | 8398 | PLA2G6 |
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DOID:0112321 | alacrima, achalasia, and impaired intellectual development syndrome | HGNC:22923 | Homo sapiens (human) | 29926 | GMPPA |
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DOID:0110914 | infantile hypophosphatasia | HGNC:438 | Homo sapiens (human) | 249 | ALPL |
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DOID:0080433 | developmental and epileptic encephalopathy 51 | HGNC:6971 | Homo sapiens (human) | 4191 | MDH2 |
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DOID:0060639 | permanent neonatal diabetes mellitus | HGNC:6081 | Homo sapiens (human) | 3630 | INS |
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DOID:0110721 | neuronal ceroid lipofuscinosis 1 | HGNC:9325 | Homo sapiens (human) | 5538 | PPT1 |
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DOID:0050816 | urofacial syndrome | HGNC:18374 | Homo sapiens (human) | 60495 | HPSE2 |
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DOID:0080572 | congenital disorder of glycosylation Iw | HGNC:6172 | Homo sapiens (human) | 3703 | STT3A |
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DOID:0070113 | Niemann-Pick disease type C1 | HGNC:7897 | Homo sapiens (human) | 4864 | NPC1 |
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DOID:0070152 | hereditary sensory and autonomic neuropathy type 1A | HGNC:11277 | Homo sapiens (human) | 10558 | SPTLC1 |
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DOID:0080201 | Peters plus syndrome | HGNC:20207 | Homo sapiens (human) | 145173 | B3GLCT |
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DOID:0070263 | congenital disorder of glycosylation type IIk | HGNC:30760 | Homo sapiens (human) | 55858 | TMEM165 |
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DOID:0111100 | maturity-onset diabetes of the young type 2 | HGNC:4195 | Homo sapiens (human) | 2645 | GCK |
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DOID:0080101 | Compton-North congenital myopathy | HGNC:2171 | Homo sapiens (human) | 1272 | CNTN1 |
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DOID:0090032 | Silverman-Handmaker type dyssegmental dysplasia | HGNC:5273 | Homo sapiens (human) | 3339 | HSPG2 |
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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 v4.0.0
Last updated: August 19, 2024