rs886041347, NF1

N. diseases: 13
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
0.710 CausalMutation CLINVAR Immunohistochemical NF1 analysis does not predict NF1 gene mutation status in pheochromocytoma. 25403449 2015
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.710 CausalMutation CLINVAR Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. 23668869 2013
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.710 CausalMutation CLINVAR Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours. 19142971 2009
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.710 CausalMutation CLINVAR Germline and somatic NF1 gene mutations in plexiform neurofibromas. 18484666 2008
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.710 CausalMutation CLINVAR Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. 15146469 2004
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.710 GeneticVariation BEFREE The genetic analysis of our patient revealed neither mutation in the neurofibromatosis 1-guanosine triphosphatase-activating protein-related domain nor the R816X nonsense mutation. 12661943 2003
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.710 CausalMutation CLINVAR Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain. 10712197 2000
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.710 CausalMutation CLINVAR Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome. 9475595 1998
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.710 CausalMutation CLINVAR Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene. 9150739 1997
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.710 GeneticVariation CLINVAR