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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR A prospective study of neurofibromatosis type 1 cancer incidence in the UK. 16786042

2006
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Do NF1 gene deletions result in a characteristic phenotype? 9375928

1997
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Watson syndrome: is it a subtype of type 1 neurofibromatosis? 1770531

1991
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Pulmonary stenosis, café-au-lait spots, and dull intelligence. 6025371

1967