NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Disease: Congenital pseudoarthrosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0332881
Disease: Congenital pseudoarthrosis
Congenital pseudoarthrosis 		0.020 GeneticVariation disease BEFREE Congenital pseudarthrosis of the tibia: analysis of the histology and the NF1 gene. 17657556 2007
CUI: C0332881
Disease: Congenital pseudoarthrosis
Congenital pseudoarthrosis 		0.020 GeneticVariation disease BEFREE Is double inactivation of the Nf1 gene responsible for the development of congenital pseudarthrosis of the tibia associated with NF1? 22488919 2012