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 Is double inactivation of the Nf1 gene responsible for the development of congenital pseudarthrosis of the tibia associated with NF1? 22488919 2012
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