Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.330 GeneticVariation group BEFREE Although hypertrophic CMP has "classically" been reported in association to RAF1, RIT1, and PTPN11 variants, SOS1 appears to be poorly related to CMP. 31368652 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.330 GeneticVariation group BEFREE Compared with the canonical Noonan phenotype linked to PTPN11 mutations, patients with RIT1 mutations appear to be less severely growth retarded and more frequently affected by cardiomyopathy. 26757980 2016
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.330 Biomarker group GENOMICS_ENGLAND Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines. 26337637 2016
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.330 Biomarker group GENOMICS_ENGLAND PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain. 25884655 2015
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.330 GeneticVariation group BEFREE Individuals with the clinical diagnosis of NS but without a PTPN11 mutation presumably represent a heterogeneous group in which patients with cardiomyopathy appear to constitute an interesting subgroup for future research. 15001945 2004