rs786201874, NF1

N. diseases: 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 Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform. 27838393 2017
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.700 CausalMutation CLINVAR Soft tissue perineurioma and other unusual tumors in a patient with neurofibromatosis type 1. 24294391 2013
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.700 CausalMutation CLINVAR Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption. 17311297 2007
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.700 CausalMutation CLINVAR Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1. 17726231 2007
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.700 CausalMutation CLINVAR Evaluation of the protein truncation test and mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown mutations. 10543400 1999