Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome
0.500 GeneticVariation disease UNIPROT Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome. 28074573 2018
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome
0.500 GeneticVariation disease UNIPROT A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. 24891296 2015
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome
0.500 GeneticVariation disease UNIPROT PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. 19020799 2009
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome
0.500 GeneticVariation disease UNIPROT A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy. 15889278 2006
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome
0.500 GeneticVariation disease UNIPROT Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. 15948193 2005
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome
0.500 GeneticVariation disease UNIPROT Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation. 15384080 2005
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome
0.500 Biomarker disease MGD Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation. 15273746 2004
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome
0.500 GeneticVariation disease UNIPROT Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. 12634870 2003
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome
0.500 GeneticVariation disease UNIPROT Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report. 12739139 2003
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome
0.500 GeneticVariation disease UNIPROT Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436 2003
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome
0.500 GeneticVariation disease UNIPROT PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning. 12529711 2003
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome
0.500 GeneticVariation disease UNIPROT Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. 12960218 2003
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome
0.500 GeneticVariation disease UNIPROT PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13. 12325025 2003
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome
0.500 GeneticVariation disease UNIPROT PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469 2002
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome
0.500 GeneticVariation disease UNIPROT PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261 2002
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome
0.500 GeneticVariation disease UNIPROT Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001