| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | De novo mutations in moderate or severe intellectual disability. | 25356899 | 2014 |
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|
0.800 | GeneticVariation | UNIPROT | Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. | 22045651 | 2012 |
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|
0.800 | GeneticVariation | UNIPROT | Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome. | 22777675 | 2012 |
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|
0.800 | GeneticVariation | UNIPROT | Two percent of patients suspected of having Angelman syndrome have TCF4 mutations. | 20184619 | 2010 |
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|
0.800 | GeneticVariation | UNIPROT | Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. | 19235238 | 2009 |
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|
0.800 | GeneticVariation | UNIPROT | Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. | 18728071 | 2008 |
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|
0.800 | GeneticVariation | UNIPROT | Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. | 17436254 | 2007 |
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|
0.800 | GeneticVariation | UNIPROT | Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). | 17436255 | 2007 |
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|
T | 0.800 | GeneticVariation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR |