rs397507539, PTPN11

N. diseases: 8
Disease: Noonan Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.720 GeneticVariation BEFREE The assay identified p.A72G, p.I282V, and p.P491S variants of the PTPN11 gene and a p.I437T variant of the SOS1 gene in 4 cases with Noonan syndrome. 30541462 2018
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.720 GeneticVariation BEFREE Here, we report on a 5-year-old male with two de novo PTPN11 mutations in cis, c.1471C>T (p.Pro491Ser), and c.1492C>T (p.Arg498Trp), which are associated with NS and NSML, respectively. 24891296 2014
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.720 CausalMutation CLINVAR Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy. 22465605 2012
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.720 CausalMutation CLINVAR PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. 17020470 2006
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.720 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218 2006
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.720 CausalMutation CLINVAR PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome. 15985475 2005
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.720 CausalMutation CLINVAR Genotype-phenotype correlations in Noonan syndrome. 15001945 2004
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.720 CausalMutation CLINVAR Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia. 14982869 2004