NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555533842
rs1555533842
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease:
Dysmorphic features 		GC 0.700 CausalMutation CLINVAR Watson syndrome: is it a subtype of type 1 neurofibromatosis? 1770531 1991
dbSNP: rs1555533842
rs1555533842
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease:
Dysmorphic features 		GC 0.700 CausalMutation CLINVAR Pulmonary stenosis, café-au-lait spots, and dull intelligence. 6025371 1967
dbSNP: rs1555533842
rs1555533842
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease:
Dysmorphic features 		GC 0.700 CausalMutation CLINVAR Do NF1 gene deletions result in a characteristic phenotype? 9375928 1997
dbSNP: rs1555533842
rs1555533842
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease:
Dysmorphic features 		GC 0.700 CausalMutation CLINVAR Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b. 10726756 2000
dbSNP: rs1555533842
rs1555533842
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease:
Dysmorphic features 		GC 0.700 CausalMutation CLINVAR Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. 15221447 2004
dbSNP: rs1555533842
rs1555533842
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease:
Dysmorphic features 		GC 0.700 CausalMutation CLINVAR Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype. 16542390 2006
dbSNP: rs1555533842
rs1555533842
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease:
Dysmorphic features 		GC 0.700 CausalMutation CLINVAR A prospective study of neurofibromatosis type 1 cancer incidence in the UK. 16786042 2006
dbSNP: rs1555533842
rs1555533842
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease:
Dysmorphic features 		GC 0.700 CausalMutation CLINVAR Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1. 16835897 2006
dbSNP: rs1555533842
rs1555533842
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease:
Dysmorphic features 		GC 0.700 CausalMutation CLINVAR Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. 17105749 2007
dbSNP: rs1555533842
rs1555533842
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease:
Dysmorphic features 		GC 0.700 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
dbSNP: rs1555533842
rs1555533842
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease:
Dysmorphic features 		GC 0.700 CausalMutation CLINVAR Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis. 18172006 2008
dbSNP: rs1555533842
rs1555533842
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease:
Dysmorphic features 		GC 0.700 CausalMutation CLINVAR Neurofibromatosis type 1 revisited. 19117870 2009
dbSNP: rs1555533842
rs1555533842
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease:
Dysmorphic features 		GC 0.700 CausalMutation CLINVAR Neurofibromatosis type 1. 19539839 2009
dbSNP: rs1555533842
rs1555533842
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease:
Dysmorphic features 		GC 0.700 CausalMutation CLINVAR Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. 19920235 2009
dbSNP: rs1555533842
rs1555533842
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease:
Dysmorphic features 		GC 0.700 CausalMutation CLINVAR Corpus callosum morphology and its relationship to cognitive function in neurofibromatosis type 1. 20142468 2010
dbSNP: rs1555533842
rs1555533842
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease:
Dysmorphic features 		GC 0.700 CausalMutation CLINVAR Legius syndrome in fourteen families. 21089071 2011
dbSNP: rs1555533842
rs1555533842
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease:
Dysmorphic features 		GC 0.700 CausalMutation CLINVAR Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. 22041710 2011
dbSNP: rs1555533842
rs1555533842
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease:
Dysmorphic features 		GC 0.700 CausalMutation CLINVAR Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background. 22429592 2012
dbSNP: rs1555533842
rs1555533842
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease:
Dysmorphic features 		GC 0.700 CausalMutation CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720 2012
dbSNP: rs1555533842
rs1555533842
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease:
Dysmorphic features 		GC 0.700 CausalMutation CLINVAR Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation. 23047742 2013
dbSNP: rs1555533842
rs1555533842
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease:
Dysmorphic features 		GC 0.700 CausalMutation CLINVAR Increased risk of breast cancer in women with NF1. 23165953 2012
dbSNP: rs1555533842
rs1555533842
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease:
Dysmorphic features 		GC 0.700 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
dbSNP: rs1555533842
rs1555533842
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease:
Dysmorphic features 		GC 0.700 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
dbSNP: rs1555533842
rs1555533842
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease:
Dysmorphic features 		GC 0.700 CausalMutation CLINVAR A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands. 23656349 2014
dbSNP: rs1555533842
rs1555533842
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease:
Dysmorphic features 		GC 0.700 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