Disease: Split hand foot deformity 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.100 GeneticVariation disease BEFREE BRAF V600E mutations were detected in 4/11 LCH and 4/4 ECD cases. 26110571 2015
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.100 GeneticVariation disease BEFREE These results indicate that cfDNA BRAF(V600E) mutational analysis in plasma and urine provides a convenient and reliable method of detecting mutational status and can serve as a noninvasive biomarker to monitor response to therapy in LCH and ECD. 25324352 2015
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.100 GeneticVariation disease BEFREE We recently reported short-term efficacy of a BRAF inhibitor (vemurafenib) in three patients with multisystemic ECD. 25422482 2015
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.100 GeneticVariation disease BEFREE BRAF(V600E) mutation was present in all the biopsy and peripheral blood samples from patients with ECD and in none of the controls. 24671772 2015
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.100 Biomarker disease BEFREE More recently, the BRAF-inhibitor vemurafenib has been used in small groups of ECD patients with optimal efficacy in all treated cases. 25865950 2015
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.100 GeneticVariation disease BEFREE We found the BRAF(V600E) mutation in 11 (69%) of 16 LCH lesions and in 9 (82%) of 11 ECD lesions. 24894769 2014
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.100 GeneticVariation disease BEFREE We tested for BRAF V600E mutation in cfDNA from the plasma and urine of 6 ECD patients. 25003820 2014
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.100 Biomarker disease BEFREE We performed molecular analysis of BRAF in the largest cohort of ECD patients studied to date followed by N/KRAS, PIK3CA, and AKT1 mutational analysis in BRAF wild-type patients. 25150293 2014
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.100 Biomarker disease BEFREE Vemurafenib has been used for a small number of patients harbouring this mutation; inhibition of BRAF activation by vemurafenib was highly beneficial in these cases of severe multisystemic and refractory ECD. 23597965 2013
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.100 GeneticVariation disease BEFREE The high frequency of BRAF(V600E) in LCH and ECD suggests a common origin of these diseases. 22879539 2012