NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Disease: Cafe-au-lait macules with pulmonary stenosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		0.730 GeneticVariation disease BEFREE Mutations in NF1 are linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. 29354122 2017
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		0.730 Biomarker disease GENOMICS_ENGLAND Genome sequencing identifies major causes of severe intellectual disability. 24896178 2014
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		0.730 Biomarker disease GENOMICS_ENGLAND The RASopathies. 23875798 2013
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		0.730 GeneticVariation disease BEFREE Neurofibromatosis type 1 (NF1) and its related disorders (NF1-Noonan syndrome (NFNS) and Watson syndrome (WS)) are caused by heterozygous mutations in the NF1 gene. 23047742 2013
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		0.730 GermlineCausalMutation disease ORPHANET Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family. 22847776 2012
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		0.730 Biomarker disease CTD_human Ras signaling pathways mediate NGF-induced enhancement of excitability of small-diameter capsaicin-sensitive sensory neurons from wildtype but not Nf1+/- mice. 21501659 2011
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		0.730 Biomarker disease GENOMICS_ENGLAND Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene. 11704931 2001
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		0.730 GeneticVariation disease BEFREE Here we provide evidence for the former by demonstrating a mutation in the NF1 gene in a family with features of both WS and NS. 8317503 1993
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		0.730 CausalMutation disease CLINVAR
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		0.730 GeneticVariation disease CLINVAR