Disease: Familial (FPAH) ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 Biomarker disease BEFREE Intronic (TTTCA)<sub>n</sub> insertions in the SAMD12, TNRC6A, and RAPGEF2 genes have been identified as causes of familial cortical myoclonic tremor with epilepsy. 31483537 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 Biomarker disease BEFREE The aim was to investigate whether abnormal TTTTA and TTTCA repeat expansions in introns of SAMD12, TNRC6A and RAPGEF2 are involved in the pathogenesis of familial cortical myoclonic tremor with epilepsy (FCMTE). 30351492 2019