rs771529172, NF1

N. diseases: 6
Disease: Neurofibromatosis 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.700 CausalMutation CLINVAR High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. 26178382 2015
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.700 CausalMutation CLINVAR Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1. 25966637 2015
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.700 CausalMutation CLINVAR Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing. 24789688 2014
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.700 CausalMutation CLINVAR Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome. 24357598 2014
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.700 CausalMutation CLINVAR A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins. 19120036 2009
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.700 CausalMutation CLINVAR Molecular diagnosis of neurofibromatosis type 1: 2 years experience. 16944272 2007
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.700 CausalMutation CLINVAR Evaluation of genotype-phenotype correlations in neurofibromatosis type 1. 14569132 2003
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.700 CausalMutation CLINVAR Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients. 12807981 2003
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.700 CausalMutation CLINVAR