NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Disease: Ectropion uveae ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs876657714
rs876657714
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0423325
Disease:
Ectropion uveae 		0.010 GeneticVariation BEFREE Presence of the R1748X mutation in the NF1 gene in a Brazilian patient with ectropion uveae. 15627836 2005