Disease: Hypertrophic Cardiomyopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918457
rs121918457
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		0.710 GeneticVariation BEFREE Here we present a patient with severe, progressive neonatal HCM, elevated urinary catecholamine metabolites, and dysmorphic features in whom we identified a known LEOPARD syndrome-associated PTPN11 mutation (c.1403 C > T; p.T468M) and a novel, potentially pathogenic missense SOS1 variant (c.1018 C > T; p.P340S) replacing a rigid nonpolar imino acid with a polar amino acid at a highly conserved position. 22585553 2012
dbSNP: rs121918456
rs121918456
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		0.020 GeneticVariation BEFREE Ptpn11(Y279C/+) (LS/+) mice recapitulated the human disorder, with short stature, craniofacial dysmorphia, and morphologic, histologic, echocardiographic, and molecular evidence of hypertrophic cardiomyopathy (HCM). 21339643 2011
dbSNP: rs121918456
rs121918456
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		0.020 GeneticVariation BEFREE We previously generated knock-in mice harboring the PTPN11 mutation Y279C, one of the most common NSML alleles; these now-termed SHP2Y279C/+ mice recapitulate the human disorder and develop hypertrophic cardiomyopathy (HCM) by 12 weeks of age. 28582432 2017
dbSNP: rs397507549
rs397507549
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		0.020 GeneticVariation BEFREE We therefore hypothesized that hyperactivation of AKT1 is required for the development of Q510E-SHP2-induced HCM. 28911943 2017
dbSNP: rs397507549
rs397507549
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		0.020 GeneticVariation BEFREE This study describes the association between the Gln510Glu mutation of the PTPN11 gene and lethal progressive hypertrophic cardiomyopathy (HCM) in a newborn with the NS phenotype. 19582499 2009
dbSNP: rs121918462
rs121918462
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		0.010 GeneticVariation BEFREE Here, we report a Japanese female infant with NS carrying the PTPN11 T73I mutation with NS/MPD, complete atrio-ventricular septal defect, and rapidly progressive HCM. 26286251 2015
dbSNP: rs397507550
rs397507550
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		0.010 GeneticVariation BEFREE We report on a woman with LS and a novel Gln510His mutation in PTPN11, who had progressive HCM with congestive heart failure and nonsustained ventricular tachycardia, successfully treated with implantable cardioverter defibrillator (ICD). 21910226 2011
dbSNP: rs121918457
rs121918457
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.710 CausalMutation CLINVAR Visual processing in Noonan syndrome: dorsal and ventral stream sensitivity. 21910245 2011
dbSNP: rs121918457
rs121918457
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.710 CausalMutation CLINVAR LEOPARD syndrome without hearing loss or pulmonary stenosis: a report of 2 cases. 25544017 2015
dbSNP: rs121918457
rs121918457
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.710 CausalMutation CLINVAR The Marshall M. Parks memorial lecture: making sense of early-onset childhood retinal dystrophies--the clinical phenotype of Leber congenital amaurosis. 19825837 2010
dbSNP: rs121918457
rs121918457
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.710 CausalMutation CLINVAR Pathogenesis of multiple lentigines in LEOPARD syndrome with PTPN11 gene mutation. 25917897 2015
dbSNP: rs121918457
rs121918457
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.710 CausalMutation CLINVAR LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. 24767283 2014
dbSNP: rs121918457
rs121918457
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.710 CausalMutation CLINVAR Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. 15121796 2004
dbSNP: rs121918457
rs121918457
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.710 CausalMutation CLINVAR Structural and mechanistic insights into LEOPARD syndrome-associated SHP2 mutations. 23457302 2013
dbSNP: rs121918457
rs121918457
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.710 CausalMutation CLINVAR Reactive oxygen species and epidermal growth factor are antagonistic cues controlling SHP-2 dimerization. 22411627 2012
dbSNP: rs121918457
rs121918457
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.710 CausalMutation CLINVAR Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome. 20535210 2010
dbSNP: rs121918457
rs121918457
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.710 CausalMutation CLINVAR Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines. 26337637 2016
dbSNP: rs121918457
rs121918457
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.710 CausalMutation CLINVAR A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1. 22585553 2012
dbSNP: rs121918457
rs121918457
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.710 CausalMutation CLINVAR Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation. 23813970 2013
dbSNP: rs121918457
rs121918457
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.710 CausalMutation CLINVAR Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. 12058348 2002
dbSNP: rs121918457
rs121918457
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.710 CausalMutation CLINVAR Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations. 24935154 2014
dbSNP: rs121918457
rs121918457
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.710 CausalMutation CLINVAR A novel PTPN11 mutation in LEOPARD syndrome. 14961557 2003
dbSNP: rs121918457
rs121918457
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.710 CausalMutation CLINVAR Phosphatase-dependent and -independent functions of Shp2 in neural crest cells underlie LEOPARD syndrome pathogenesis. 20493809 2010
dbSNP: rs121918457
rs121918457
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.710 CausalMutation CLINVAR Identification of a PTPN11 hot spot mutation in a child with atypical LEOPARD syndrome. 27484170 2016
dbSNP: rs121918457
rs121918457
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.710 CausalMutation CLINVAR Tegumentary manifestations of Noonan and Noonan-related syndromes. 24037001 2013