NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Disease: Neurofibromatosis 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs876657715
rs876657715
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		TA 0.700 CausalMutation CLINVAR Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform. 27838393 2017
dbSNP: rs876657715
rs876657715
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		TA 0.700 CausalMutation CLINVAR The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study. 25325900 2014
dbSNP: rs876657715
rs876657715
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		TA 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
dbSNP: rs876657715
rs876657715
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		TA 0.700 CausalMutation CLINVAR Comprehensive NF1 screening on cultured Schwann cells from neurofibromas. 16941471 2006
dbSNP: rs876657715
rs876657715
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		TA 0.700 CausalMutation CLINVAR Characterization of six mutations in exon 37 of neurofibromatosis type 1 gene. 8837715 1996