Gene: RIT1 ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6016
Gene Symbol: RIT1
RIT1 		0.900 CausalMutation disease CLINVAR Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. 26714497 2016
Entrez Id: 6016
Gene Symbol: RIT1
RIT1 		0.900 CausalMutation disease CLINVAR Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia. 26757980 2016
Entrez Id: 6016
Gene Symbol: RIT1
RIT1 		0.900 CausalMutation disease CLINVAR Recently, mutations in RIT1 were identified as a novel cause for Noonan syndrome. 25959749 2016
Entrez Id: 6016
Gene Symbol: RIT1
RIT1 		0.900 GeneticVariation disease CLINVAR Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia. 26757980 2016
Entrez Id: 6016
Gene Symbol: RIT1
RIT1 		0.900 CausalMutation disease CLINVAR The usefulness of whole-exome sequencing in routine clinical practice. 24901346 2014
Entrez Id: 6016
Gene Symbol: RIT1
RIT1 		0.900 CausalMutation disease CLINVAR Because of the relatively high frequency of mutations in RIT1 among patients with NS and its occurrence in different populations, we suggest that it should be added to the list of genes included in panels for the molecular diagnosis of NS through targeted next-generation sequencing. 25124994 2014
Entrez Id: 6016
Gene Symbol: RIT1
RIT1 		0.900 CausalMutation disease CLINVAR Expression of the mutant RASA2, MAP2K1, or RIT1 alleles in heterologous cells increased RAS-ERK pathway activation, supporting a causative role in NS pathogenesis. 25049390 2014
Entrez Id: 6016
Gene Symbol: RIT1
RIT1 		0.900 CausalMutation disease CLINVAR Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity. 24939608 2014
Entrez Id: 6016
Gene Symbol: RIT1
RIT1 		0.900 CausalMutation disease CLINVAR Oncogenic RIT1 mutations in lung adenocarcinoma. 24469055 2014
Entrez Id: 6016
Gene Symbol: RIT1
RIT1 		0.900 GeneticVariation disease CLINVAR Expression of the mutant RASA2, MAP2K1, or RIT1 alleles in heterologous cells increased RAS-ERK pathway activation, supporting a causative role in NS pathogenesis. 25049390 2014
Entrez Id: 6016
Gene Symbol: RIT1
RIT1 		0.900 CausalMutation disease CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665 2014
Entrez Id: 6016
Gene Symbol: RIT1
RIT1 		0.900 GeneticVariation disease CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665 2014
Entrez Id: 6016
Gene Symbol: RIT1
RIT1 		0.900 CausalMutation disease CLINVAR These results demonstrate that gain-of-function mutations in RIT1 cause Noonan syndrome and show a similar biological effect to mutations in other RASopathy-related genes. 23791108 2013