| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.500 | GeneticVariation | disease | BEFREE | Although the phenotype of CDKL5 mutation is similar to Rett syndrome caused by MECP2 mutation, the former is characterized by early-onset seizures and association with West syndrome. | 16806828 | 2006 | ||||
|
0.500 | Biomarker | disease | BEFREE | Although null mutations of ARX in human patients result in the severe neurologic syndrome XLAG (X-linked lissencephaly associated with abnormal genitalia), the most common mutation is the expansion of the first polyalanine tract of ARX, which results primarily in the clinical syndrome ISSX (infantile spasms). | 24236044 | 2013 | ||||
|
0.500 | GeneticVariation | disease | BEFREE | A screen for CDKL5 mutations is useful in patients, mainly females, with a history of early onset intractable seizures and becomes mandatory when idiopathic infantile spasms and/or atypical Rett syndrome features are also present. | 17049193 | 2007 | ||||
|
0.500 | GeneticVariation | disease | BEFREE | A 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with West syndrome and pyruvate oxidation deficiency. | 22473288 | 2012 | ||||
|
0.500 | GermlineCausalMutation | disease | ORPHANET | CDKL5 disruption by t(X;18) in a girl with West syndrome. | 18564362 | 2008 | ||||
|
0.500 | GeneticVariation | disease | LHGDN | CDKL5 mutations are a significant cause of infantile spasms and early epileptic seizures in female patients, and of a later intractable seizure disorder, irrespective of whether they have suspected Rett syndrome. | 16611748 | 2006 | ||||
|
0.500 | GeneticVariation | disease | BEFREE | CDKL5 mutations are a significant cause of infantile spasms and early epileptic seizures in female patients, and of a later intractable seizure disorder, irrespective of whether they have suspected Rett syndrome. | 16611748 | 2006 | ||||
|
0.500 | Biomarker | disease | HPO | |||||||
|
0.500 | GeneticVariation | disease | CLINVAR |