IMP
Process View
Homo sapiens
7 genes annotated in human
aicardi goutieres syndrome
DOID:0050629
An autosomal recessive disease that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections.
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In addition to gene-name show these genes:
Click on a gene's description to view its network relationships with genes known to be involved in "aicardi goutieres syndrome"
| Name | Description | Probability | Func Analog Organism | |
|---|---|---|---|---|
| ISG15 | ISG15 ubiquitin-like modifier | 0.058 | ||
| UBE2L6 | ubiquitin-conjugating enzyme E2L 6 | 0.042 | ||
| STAT1 | signal transducer and activator of transcription 1, 91kDa | 0.040 | ||
| DTX3L | deltex 3-like (Drosophila) | 0.031 | ||
| MCM2 | minichromosome maintenance complex component 2 | 0.028 | ||
| EIF2AK2 | eukaryotic translation initiation factor 2-alpha kinase 2 | 0.022 | ||
| TYMS | thymidylate synthetase | 0.018 | ||
| NUDT1 | nudix (nucleoside diphosphate linked moiety X)-type motif 1 | 0.017 | ||
| MYD88 | myeloid differentiation primary response gene (88) | 0.014 | ||
| DTYMK | deoxythymidylate kinase (thymidylate kinase) | 0.012 | ||
| POLA2 | polymerase (DNA directed), alpha 2 (70kD subunit) | 0.011 | ||
| DDX58 | DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 | 0.011 | Human | |
| RNASEH2C | ribonuclease H2, subunit C | 0.006 | ||
| RNASEH2B | ribonuclease H2, subunit B | 0.001 | ||
| ADAR | adenosine deaminase, RNA-specific | 0.001 | ||
| RNASEH2A | ribonuclease H2, subunit A | 0.001 | ||
| SAMHD1 | SAM domain and HD domain 1 | 0.001 | ||
| IFIH1 | interferon induced with helicase C domain 1 | 0.001 | ||
| TREX1 | three prime repair exonuclease 1 | 0.001 |