rs121918459, PTPN11

N. diseases: 47
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Abnormality of bone mineral density
CUI: C4021657
Disease: Abnormality of bone mineral density
0.700 CausalMutation CLINVAR
Abnormality of skeletal maturation
CUI: C4025818
Disease: Abnormality of skeletal maturation
0.700 CausalMutation CLINVAR
Abnormality of the face
CUI: C4025871
Disease: Abnormality of the face
0.700 CausalMutation CLINVAR
Abnormality of the thorax
CUI: C4021797
Disease: Abnormality of the thorax
0.700 CausalMutation CLINVAR
Atrioventricular Septal Defect
CUI: C1389018
Disease: Atrioventricular Septal Defect
0.700 CausalMutation CLINVAR
B lymphoblastic leukemia lymphoma, no ICD-O subtype
CUI: C3472624
Disease: B lymphoblastic leukemia lymphoma, no ICD-O subtype
0.700 CausalMutation CLINVAR
Bilateral ptosis
CUI: C1865916
Disease: Bilateral ptosis
0.700 CausalMutation CLINVAR
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
0.700 CausalMutation CLINVAR
Broad neck
CUI: C1853638
Disease: Broad neck
0.700 CausalMutation CLINVAR
Congenital Epicanthus
CUI: C0678230
Disease: Congenital Epicanthus
0.700 CausalMutation CLINVAR
Congenital insufficiency of pulmonary valve
CUI: C0265833
Disease: Congenital insufficiency of pulmonary valve
0.700 CausalMutation CLINVAR Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome. 22711529 2012
Congenital insufficiency of pulmonary valve
CUI: C0265833
Disease: Congenital insufficiency of pulmonary valve
0.700 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261 2002
Congenital insufficiency of pulmonary valve
CUI: C0265833
Disease: Congenital insufficiency of pulmonary valve
0.700 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001
Congenital insufficiency of pulmonary valve
CUI: C0265833
Disease: Congenital insufficiency of pulmonary valve
0.700 CausalMutation CLINVAR PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469 2002
Congenital stenosis of pulmonary valve
CUI: C0162164
Disease: Congenital stenosis of pulmonary valve
0.700 CausalMutation CLINVAR PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469 2002
Congenital stenosis of pulmonary valve
CUI: C0162164
Disease: Congenital stenosis of pulmonary valve
0.700 CausalMutation CLINVAR Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome. 22711529 2012
Congenital stenosis of pulmonary valve
CUI: C0162164
Disease: Congenital stenosis of pulmonary valve
0.700 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001
Congenital stenosis of pulmonary valve
CUI: C0162164
Disease: Congenital stenosis of pulmonary valve
0.700 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261 2002
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
0.700 CausalMutation CLINVAR PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469 2002
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
0.700 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
0.700 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261 2002
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
0.700 CausalMutation CLINVAR Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome. 22711529 2012
Cupped ears (finding)
CUI: C1845447
Disease: Cupped ears (finding)
0.700 CausalMutation CLINVAR
Delayed Puberty
CUI: C0034012
Disease: Delayed Puberty
0.700 CausalMutation CLINVAR
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