rs1057517917, PTPN11

N. diseases: 2
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
0.020 GeneticVariation BEFREE Here, we characterized functionally all possible amino acid substitutions arising from single-base changes affecting codons 62 and 63 to explore the molecular mechanisms lying behind the largely invariant occurrence of the Y62D and Y63C substitutions recurring in Noonan syndrome. 22711529 2012
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.020 GeneticVariation BEFREE A PTPN11 gene mutation (Y63C) causing Noonan syndrome is not associated with short stature in general population. 16498234 2006
Dwarfism
CUI: C0013336
Disease: Dwarfism
0.010 GeneticVariation BEFREE A PTPN11 gene mutation (Y63C) causing Noonan syndrome is not associated with short stature in general population. 16498234 2006