rs137854566, 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
0.800 GeneticVariation UNIPROT NF1 mutations and clinical spectrum in patients with spinal neurofibromas. 12746402 2003
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.800 GeneticVariation UNIPROT NF1 gene analysis based on DHPLC. 12552569 2003
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.800 GeneticVariation UNIPROT Six novel mutations in the neurofibromatosis type 1 (NF1) gene. 9298829 1997
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.800 GeneticVariation UNIPROT A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. 2114220 1990
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.800 GeneticVariation UNIPROT Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. 15060124 2004