Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 CausalMutation CLINVAR A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. 29555671

2018
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 CausalMutation CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039

2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 CausalMutation CLINVAR Genotype-phenotype correlations in Noonan syndrome. 15001945

2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 CausalMutation CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436

2003
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001