RASA2, RAS p21 protein activator 2, 5922

N. diseases: 116; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.510 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
0.510 GermlineCausalMutation disease ORPHANET 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
0.510 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