Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507549
rs397507549
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		G 0.700 CausalMutation CLINVAR Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog. 25708222

2015
dbSNP: rs397507549
rs397507549
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		G 0.700 CausalMutation CLINVAR Atrioventricular canal defect in patients with RASopathies. 22781091

2013
dbSNP: rs397507549
rs397507549
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		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
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		G 0.700 CausalMutation CLINVAR LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation. 21677813

2011
dbSNP: rs397507549
rs397507549
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		G 0.700 CausalMutation CLINVAR Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations. 20954246

2010
dbSNP: rs397507549
rs397507549
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		G 0.700 CausalMutation CLINVAR Genotype differences in cognitive functioning in Noonan syndrome. 19077116

2009
dbSNP: rs397507549
rs397507549
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		G 0.700 CausalMutation CLINVAR Leopard syndrome. 18505544

2008
dbSNP: rs397507549
rs397507549
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		G 0.700 CausalMutation CLINVAR Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome. 18241070

2008
dbSNP: rs397507549
rs397507549
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		G 0.700 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006