eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | sandhoff disease |
| Comorbidity | C0004352|autism |
| Sentences | 3 |
| PubMedID- 21658583 | Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses. |
| PubMedID- 23675308 | Consistent with the hypothesis that mutations in essential genes are risk factors for neurodevelopmental disease, we show that de novo variants in patients with autism spectrum disorder are more likely to occur in this collection of genes. |
| PubMedID- 24467814 | These two variants were coincident with autism and were found in two unrelated extended asd pedigrees (figure 6, additional file 7: figure s6). |
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