| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | CausalMutation | CLINVAR | The PTPN11 loss-of-function mutation Q510E-Shp2 causes hypertrophic cardiomyopathy by dysregulating mTOR signaling. | 22058153 | 2012 |
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|
G | 0.700 | CausalMutation | CLINVAR | LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation. | 21677813 | 2011 |
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|
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 |
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|
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 |
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|
G | 0.700 | CausalMutation | CLINVAR | PTPN11 gene mutation and severe neonatal hypertrophic cardiomyopathy: what is the link? | 19582499 | 2009 |
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|
G | 0.700 | CausalMutation | CLINVAR | IMAGE CARDIO MED. A patient with LEOPARD syndrome and PTPN11 mutation. | 19273734 | 2009 |
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|
G | 0.700 | CausalMutation | CLINVAR | Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome. | 18241070 | 2008 |
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|
G | 0.700 | CausalMutation | CLINVAR | "PTPN11 gene mutations: linking the Gln510Glu mutation to the ""LEOPARD syndrome phenotype""." | 16733669 | 2006 |
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|
G | 0.700 | CausalMutation | CLINVAR | Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. | 16358218 | 2006 |
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|
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 |