Disease: Noonan Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507549
rs397507549
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR The PTPN11 loss-of-function mutation Q510E-Shp2 causes hypertrophic cardiomyopathy by dysregulating mTOR signaling. 22058153 2012
dbSNP: rs397507549
rs397507549
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation. 21677813 2011
dbSNP: rs397507549
rs397507549
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR LEOPARD-type SHP2 mutant Gln510Glu attenuates cardiomyocyte differentiation and promotes cardiac hypertrophy via dysregulation of Akt/GSK-3β/β-catenin signaling. 21803945 2011
dbSNP: rs397507549
rs397507549
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His. 21910226 2011
dbSNP: rs397507549
rs397507549
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR PTPN11 gene mutation and severe neonatal hypertrophic cardiomyopathy: what is the link? 19582499 2009
dbSNP: rs397507549
rs397507549
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR IMAGE CARDIO MED. A patient with LEOPARD syndrome and PTPN11 mutation. 19273734 2009
dbSNP: rs397507549
rs397507549
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome. 18241070 2008
dbSNP: rs397507549
rs397507549
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR "PTPN11 gene mutations: linking the Gln510Glu mutation to the ""LEOPARD syndrome phenotype""." 16733669 2006
dbSNP: rs397507549
rs397507549
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218 2006
dbSNP: rs397507549
rs397507549
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy. 15889278 2005