| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. | 28191889 | 2017 |
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|
C | 0.700 | CausalMutation | CLINVAR | Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children. | 28221363 | 2017 |
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|
C | 0.700 | CausalMutation | CLINVAR | Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene. | 27031564 | 2016 |
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|
C | 0.700 | CausalMutation | CLINVAR | Comprehensive molecular testing in patients with high functioning autism spectrum disorder. | 26845707 | 2016 |
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|
C | 0.700 | CausalMutation | CLINVAR | Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. | 26637798 | 2015 |
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|
C | 0.700 | CausalMutation | CLINVAR | Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein. | 25057125 | 2014 |
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|
C | 0.700 | CausalMutation | CLINVAR | The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism. | 25169753 | 2014 |
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|
C | 0.700 | CausalMutation | CLINVAR | A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. | 24531329 | 2014 |
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|
C | 0.700 | CausalMutation | CLINVAR | Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. | 23160955 | 2012 |
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|
C | 0.700 | CausalMutation | CLINVAR | Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. | 22495309 | 2012 |
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|
C | 0.700 | CausalMutation | CLINVAR | Cloning and characterization of the human activity-dependent neuroprotective protein. | 11013255 | 2001 |