rs876657715, 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 The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study. 25325900 2014
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.700 CausalMutation CLINVAR Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder. 24232412 2014
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.700 CausalMutation CLINVAR Comprehensive NF1 screening on cultured Schwann cells from neurofibromas. 16941471 2006
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.700 CausalMutation CLINVAR Characterization of six mutations in exon 37 of neurofibromatosis type 1 gene. 8837715 1996