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:0050570 | congenital disorder of glycosylation type I | HGNC:3007 | Homo sapiens (human) | 54344 | DPM3 |
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DOID:0110937 | autosomal dominant osteopetrosis 1 | HGNC:6697 | Homo sapiens (human) | 4041 | LRP5 |
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DOID:0070261 | congenital disorder of glycosylation type IIi | HGNC:14857 | Homo sapiens (human) | 10466 | COG5 |
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DOID:0080488 | mucolipidosis | HGNC:7758 | Homo sapiens (human) | 4758 | NEU1 |
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DOID:0070265 | congenital disorder of glycosylation type IIm | HGNC:11022 | Homo sapiens (human) | 7355 | SLC35A2 |
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DOID:6498 | seborrheic keratosis | HGNC:8975 | Homo sapiens (human) | 5290 | PIK3CA |
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DOID:0080573 | congenital disorder of glycosylation Ix | HGNC:30611 | Homo sapiens (human) | 201595 | STT3B |
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DOID:0112382 | muscular dystrophy-dystroglycanopathy type C8 | HGNC:25902 | Homo sapiens (human) | 84892 | POMGNT2 |
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DOID:0050857 | Perrault syndrome | HGNC:5213 | Homo sapiens (human) | 3295 | HSD17B4 |
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DOID:0060174 | GABA aminotransferase deficiency | HGNC:23 | Homo sapiens (human) | 18 | ABAT |
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DOID:0110777 | hereditary spastic paraplegia 26 | HGNC:4117 | Homo sapiens (human) | 2583 | B4GALNT1 |
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DOID:0070459 | hereditary spastic paraplegia 90A | HGNC:20361 | Homo sapiens (human) | 171546 | SPTSSA |
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DOID:0080258 | autosomal recessive congenital ichthyosis 14 | HGNC:11459 | Homo sapiens (human) | 6820 | SULT2B1 |
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DOID:0090103 | Huntington's disease-like 1 | HGNC:9449 | Homo sapiens (human) | 5621 | PRNP |
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DOID:0111223 | centronuclear myopathy 1 | HGNC:26190 | Homo sapiens (human) | 64419 | MTMR14 |
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DOID:0070432 | hyperphosphatasia with impaired intellectual development syndrome 5 | HGNC:23213 | Homo sapiens (human) | 284098 | PIGW |
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DOID:0080139 | multiple congenital anomalies-hypotonia-seizures syndrome 2 | HGNC:8957 | Homo sapiens (human) | 5277 | PIGA |
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DOID:0080533 | Carney-Stratakis syndrome | HGNC:10683 | Homo sapiens (human) | 6392 | SDHD |
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DOID:0112171 | wrinkly skin syndrome | HGNC:18481 | Homo sapiens (human) | 23545 | ATP6V0A2 |
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DOID:0080571 | congenital disorder of glycosylation Iu | HGNC:3006 | Homo sapiens (human) | 8818 | DPM2 |
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DOID:0080119 | mitochondrial DNA depletion syndrome 1 | HGNC:3148 | Homo sapiens (human) | 1890 | TYMP |
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DOID:0081219 | autosomal recessive intellectual developmental disorder 57 | HGNC:15505 | Homo sapiens (human) | 79143 | MBOAT7 |
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DOID:0111334 | congenital leptin deficiency | HGNC:6553 | Homo sapiens (human) | 3952 | LEP |
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DOID:0070254 | congenital disorder of glycosylation type IIb | HGNC:24862 | Homo sapiens (human) | 7841 | MOGS |
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DOID:0112250 | Gaucher's disease type IIIC | HGNC:4177 | Homo sapiens (human) | 2629 | GBA1 |
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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