NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Disease: Neurofibromatosis 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060500254
rs1060500254
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		C 0.700 CausalMutation CLINVAR Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. 29290338 2018
dbSNP: rs1060500254
rs1060500254
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		C 0.700 CausalMutation CLINVAR A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands. 23656349 2014
dbSNP: rs1060500254
rs1060500254
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		C 0.700 CausalMutation CLINVAR Neurofibromin deficiency-associated transcriptional dysregulation suggests a novel therapy for tibial pseudoarthrosis in NF1. 24932921 2014