Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 Biomarker GENOMICS_ENGLAND The RASopathies. 23875798

2013

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 Biomarker GENOMICS_ENGLAND Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1. 19845691

2009

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 Biomarker GENOMICS_ENGLAND Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1. 17668375

2007

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 Biomarker GENOMICS_ENGLAND Review: Should patients with apparently sporadic pheochromocytomas or paragangliomas be screened for hereditary syndromes? 16735498

2006

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 Biomarker GENOMICS_ENGLAND Inherited interstitial lung disease. 15331184

2004

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 Biomarker GENOMICS_ENGLAND Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). 12707950

2003

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 Biomarker GENOMICS_ENGLAND Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene. 11704931

2001

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 Biomarker GENOMICS_ENGLAND Linkage of familial moyamoya disease (spontaneous occlusion of the circle of Willis) to chromosome 17q25. 10754001

2000

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 Biomarker GENOMICS_ENGLAND Neurofibromatosis type 1 growth charts. 10588837

1999

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 Biomarker GENOMICS_ENGLAND A total of 320 unrelated NF1 patients were screened for mutations in the GRD-encoding region of the NF1 gene. 9003501

1997

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 Biomarker GENOMICS_ENGLAND Nf1 deficiency causes Ras-mediated granulocyte/macrophage colony stimulating factor hypersensitivity and chronic myeloid leukaemia. 8563750

1996

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 Biomarker GENOMICS_ENGLAND