Disease: Neurofibromatosis-Noonan syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		0.040 GeneticVariation disease BEFREE The major gene involved in NFNS is NF1, but co-occurring NF1 and PTPN11 mutations in NFNS have been reported. 24357598 2014
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		0.040 GeneticVariation disease BEFREE Contrarily, absence of both cutaneous neurofibromas and NS features in her relatives with the same NF1 mutation, suggests that the index patient's typical NFNS phenotype is caused by an additive effect of mutations in both NF1 and PTPN11. 19449407 2009
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		0.040 GeneticVariation disease BEFREE One patient with neurofibromatosis-Noonan syndrome had a mutation in both the PTPN11 and NF1 genes. 17020470 2006
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		0.040 GeneticVariation disease BEFREE On the other hand, no defect in PTPN11 was observed, and no lesion affecting exons 11-27 of the NF1 gene was identified in 100 PTPN11 mutation-negative subjects with NS, which provides further evidence that NFNS and NS are genetically distinct disorders. 16380919 2005