rs1555535032, NF1

N. diseases: 9
Disease: Neurofibromatosis 1 ×
Source: CLINVAR ×
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 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 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 Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1. 16835897 2006
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.700 CausalMutation CLINVAR Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene. 7607663 1995