RIT1, Ras like without CAAX 1, 6016

N. diseases: 184; N. variants: 18
Disease: Noonan Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		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
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.900 Biomarker disease CLINGEN 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
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.900 CausalMutation disease CLINVAR Oncogenic RIT1 mutations in lung adenocarcinoma. 24469055 2014
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		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
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.900 GeneticVariation disease BEFREE 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
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.900 GeneticVariation disease BEFREE 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
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.900 CausalMutation disease CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665 2014
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.900 GeneticVariation disease CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665 2014
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.900 Biomarker disease CLINGEN 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
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.900 GermlineCausalMutation disease ORPHANET 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
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.900 GeneticVariation disease BEFREE 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
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.900 Biomarker disease CLINGEN The RASopathies. 23875798 2013
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.900 Biomarker disease CLINGEN 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
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		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