Disease: Familial (FPAH) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.030 GeneticVariation disease BEFREE A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype. 23663087 2013
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.030 GeneticVariation disease BEFREE We provide data for a slight age-dependent progression and the presence of neuropsychiatric and neuropsychological dysfunction in this unique syndrome, for which the definition of familial or autosomal dominant cortical tremor, myoclonus, and epilepsy (FCTME/ADCME) seems to be, therefore, more appropriate. 21426326 2011
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.030 GeneticVariation disease BEFREE To identify the genetic locus for the familial adult myoclonic epilepsy (FAME) gene. 10522869 1999