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 		T 0.710 CausalMutation CLINVAR Noonan syndrome with multiple lentigines with PTPN11 (T468M) gene mutation accompanied with solitary granular cell tumor. 28681392 2017
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 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 Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines. 27238887 2016
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 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 PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain. 25884655 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 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 Diagnosis of Noonan syndrome and related disorders using target next generation sequencing. 24451042 2014
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 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 Tegumentary manifestations of Noonan and Noonan-related syndromes. 24037001 2013
dbSNP: rs121918457
rs121918457
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.710 CausalMutation CLINVAR LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy. 24775816 2013
dbSNP: rs121918457
rs121918457
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.710 CausalMutation CLINVAR Delayed primary diagnosis of LEOPARD syndrome type 1. 23317994 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 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 		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: rs121918457
rs121918457
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.710 CausalMutation CLINVAR Pediatric cardiomyopathy: importance of genetic and metabolic evaluation. 22555271 2012
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 (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria. 21365175 2011
dbSNP: rs121918457
rs121918457
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.710 CausalMutation CLINVAR PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots? 22681964 2011
dbSNP: rs121918457
rs121918457
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.710 CausalMutation CLINVAR RASopathies: Clinical Diagnosis in the First Year of Life. 22190897 2011
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 Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome. 20535210 2010