RIT1, Ras like without CAAX 1, 6016

N. diseases: 184; N. variants: 18
Disease: Congenital Heart Defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.020 Biomarker group BEFREE The scope of cardiac disease in Noonan syndrome is quite variable depending on the gene mutation, with some mutations usually associated with a high incidence of congenital heart defects (PTPN11, KRAS, and others) while those with predominantly hypertrophic cardiomyopathy (HCM) have higher risk and morbidity profiles (RAF1, RIT1, and those associated with multiple lentigines). 30024444 2018
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.020 GeneticVariation group BEFREE Clinical manifestations in the RIT1-mutation-positive individuals are consistent with those of Noonan syndrome, which is characterized by distinctive facial features, short stature, and congenital heart defects. 23791108 2013