| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.460 | Biomarker | phenotype | GENOMICS_ENGLAND | Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach. | 26029707 | 2015 | ||||
|
0.460 | Biomarker | phenotype | GENOMICS_ENGLAND | Expanding the phenotype associated with missense mutations of the ARX gene. | 23657928 | 2013 | ||||
|
0.460 | GeneticVariation | phenotype | BEFREE | We screened for both ARX polyA expansions in 98 unrelated patients selected for the presence of NR associated with different types of epilepsy and/or with hand dystonia. | 21204215 | 2011 | ||||
|
0.460 | GeneticVariation | phenotype | BEFREE | Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms. | 18823727 | 2009 | ||||
|
0.460 | GeneticVariation | phenotype | BEFREE | In addition, they might reflect that other phenotypic features associated with CDKL5 mutations (Rett-like features, infantile spasm) or ARX mutations (dystonia, spasticity) are more distinctive. | 19734009 | 2009 | ||||
|
0.460 | GeneticVariation | phenotype | BEFREE | Mutations in the ARX gene are responsible for a wide variety of mental retardation conditions including X-linked infantile spasms (ISSX) and generalized dystonia. | 18468866 | 2008 | ||||
|
0.460 | GeneticVariation | phenotype | LHGDN | Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation. | 15726411 | 2005 | ||||
|
0.460 | GeneticVariation | phenotype | BEFREE | We have identified mutations in an X chromosome-linked, Aristaless-related, homeobox gene (ARX), in nine families with mental retardation (syndromic and nonspecific), various forms of epilepsy, including infantile spasms and myoclonic seizures, and dystonia. | 11889467 | 2002 | ||||
|
0.460 | Biomarker | phenotype | HPO | |||||||
|
0.460 | Biomarker | phenotype | GENOMICS_ENGLAND |