NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Disease: Ectropion uveae ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0423325
Disease: Ectropion uveae
Ectropion uveae 		0.010 GeneticVariation disease BEFREE Presence of the R1748X mutation in the NF1 gene in a Brazilian patient with ectropion uveae. 15627836 2005