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:0110875 | holoprosencephaly 3 | HGNC:10848 | Homo sapiens (human) | 6469 | SHH |
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DOID:0060563 | Char syndrome | HGNC:11743 | Homo sapiens (human) | 7021 | TFAP2B |
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DOID:0060639 | permanent neonatal diabetes mellitus | HGNC:6081 | Homo sapiens (human) | 3630 | INS |
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DOID:14701 | propionic acidemia | HGNC:8653 | Homo sapiens (human) | 5095 | PCCA |
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DOID:0080124 | mitochondrial DNA depletion syndrome 5 | HGNC:11448 | Homo sapiens (human) | 8803 | SUCLA2 |
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DOID:0060603 | isolated anhidrosis with normal sweat glands | HGNC:6181 | Homo sapiens (human) | 3709 | ITPR2 |
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DOID:0110965 | brachydactyly type A2 | HGNC:4220 | Homo sapiens (human) | 8200 | GDF5 |
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DOID:0070453 | xanthinuria type II | HGNC:18234 | Homo sapiens (human) | 55034 | MOCOS |
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DOID:0060537 | mitochondrial complex II deficiency | HGNC:10680 | Homo sapiens (human) | 6389 | SDHA |
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DOID:0080433 | developmental and epileptic encephalopathy 51 | HGNC:6971 | Homo sapiens (human) | 4191 | MDH2 |
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DOID:0110519 | autosomal recessive nonsyndromic deafness 68 | HGNC:3169 | Homo sapiens (human) | 9294 | S1PR2 |
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DOID:4971 | myelofibrosis | HGNC:7217 | Homo sapiens (human) | 4352 | MPL |
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DOID:0080075 | Neu-Laxova syndrome 2 | HGNC:19129 | Homo sapiens (human) | 29968 | PSAT1 |
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DOID:0060794 | hypomyelinating leukodystrophy 7 | HGNC:30074 | Homo sapiens (human) | 11128 | POLR3A |
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DOID:0081384 | ataxia-telangiectasia-like disorder-1 | HGNC:7230 | Homo sapiens (human) | 4361 | MRE11 |
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DOID:0070151 | hereditary sensory and autonomic neuropathy type 6 | HGNC:1090 | Homo sapiens (human) | 667 | DST |
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DOID:0110173 | Charcot-Marie-Tooth disease axonal type 2U | HGNC:6898 | Homo sapiens (human) | 4141 | MARS1 |
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DOID:14705 | Pfeiffer syndrome | HGNC:3688 | Homo sapiens (human) | 2260 | FGFR1 |
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DOID:0070423 | early onset progressive encephalopathy with brain atrophy and thin corpus callosum | HGNC:11581 | Homo sapiens (human) | 6904 | TBCD |
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DOID:0070397 | hypomyelinating leukodystrophy 23 | HGNC:25552 | Homo sapiens (human) | 55182 | RNF220 |
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DOID:0110599 | primary ciliary dyskinesia 3 | HGNC:2950 | Homo sapiens (human) | 1767 | DNAH5 |
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DOID:0110877 | holoprosencephaly 11 | HGNC:17104 | Homo sapiens (human) | 50937 | CDON |
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DOID:0110840 | Usher syndrome type 2D | HGNC:16361 | Homo sapiens (human) | 25861 | WHRN |
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DOID:0110356 | retinitis pigmentosa 18 | HGNC:17348 | Homo sapiens (human) | 9129 | PRPF3 |
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DOID:0080439 | developmental and epileptic encephalopathy 14 | HGNC:18865 | Homo sapiens (human) | 57582 | KCNT1 |
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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