Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Pulmonary stenosis, café-au-lait spots, and dull intelligence. 6025371

1967
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Watson syndrome: is it a subtype of type 1 neurofibromatosis? 1770531

1991
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Do NF1 gene deletions result in a characteristic phenotype? 9375928

1997
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b. 10726756

2000
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. 15221447

2004
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1. 16835897

2006
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype. 16542390

2006
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR A prospective study of neurofibromatosis type 1 cancer incidence in the UK. 16786042

2006
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. 17105749

2007
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening. 17369502

2007
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis. 18172006

2008
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Neurofibromatosis type 1. 19539839

2009
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Neurofibromatosis type 1 revisited. 19117870

2009
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. 19920235

2009
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Corpus callosum morphology and its relationship to cognitive function in neurofibromatosis type 1. 20142468

2010
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. 22041710

2011
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Legius syndrome in fourteen families. 21089071

2011
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations? 23244495

2012
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background. 22429592

2012
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Increased risk of breast cancer in women with NF1. 23165953

2012
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720

2012
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation. 23047742

2013
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experience from a single center. 23354915

2013
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis. 23812910

2013
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study. 25325900

2014