| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Abnormality of the face
|
0.700 | CausalMutation | CLINVAR | ||||||||
Abnormality of the sternum
|
0.700 | CausalMutation | CLINVAR | ||||||||
Adult Medulloblastoma
|
0.010 | GeneticVariation | BEFREE | We present a patient with NSML caused by the recurrent PTPN11 mutation c.1403C > T (p.Thr468Met) in whom medulloblastoma was diagnosed at age 10 years. | 23813970 | 2013 | |||||
Broad neck
|
0.700 | CausalMutation | CLINVAR | ||||||||
Cafe-au-Lait Spots
|
0.700 | CausalMutation | CLINVAR | ||||||||
Cardiovascular Abnormalities
|
0.700 | CausalMutation | CLINVAR | ||||||||
Childhood Medulloblastoma
|
0.010 | GeneticVariation | BEFREE | We present a patient with NSML caused by the recurrent PTPN11 mutation c.1403C > T (p.Thr468Met) in whom medulloblastoma was diagnosed at age 10 years. | 23813970 | 2013 | |||||
Congenital pectus carinatum
|
0.700 | CausalMutation | CLINVAR | ||||||||
Congenital pectus excavatum
|
0.700 | CausalMutation | CLINVAR | ||||||||
Global developmental delay
|
0.700 | CausalMutation | CLINVAR | ||||||||
Hypertrophic Cardiomyopathy
|
0.710 | CausalMutation | CLINVAR | Visual processing in Noonan syndrome: dorsal and ventral stream sensitivity. | 21910245 | 2011 | |||||
Hypertrophic Cardiomyopathy
|
0.710 | CausalMutation | CLINVAR | LEOPARD syndrome without hearing loss or pulmonary stenosis: a report of 2 cases. | 25544017 | 2015 | |||||
Hypertrophic Cardiomyopathy
|
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 | |||||
Hypertrophic Cardiomyopathy
|
0.710 | CausalMutation | CLINVAR | Pathogenesis of multiple lentigines in LEOPARD syndrome with PTPN11 gene mutation. | 25917897 | 2015 | |||||
Hypertrophic Cardiomyopathy
|
0.710 | CausalMutation | CLINVAR | LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. | 24767283 | 2014 | |||||
Hypertrophic Cardiomyopathy
|
0.710 | CausalMutation | CLINVAR | Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. | 15121796 | 2004 | |||||
Hypertrophic Cardiomyopathy
|
0.710 | CausalMutation | CLINVAR | Structural and mechanistic insights into LEOPARD syndrome-associated SHP2 mutations. | 23457302 | 2013 | |||||
Hypertrophic Cardiomyopathy
|
0.710 | CausalMutation | CLINVAR | Reactive oxygen species and epidermal growth factor are antagonistic cues controlling SHP-2 dimerization. | 22411627 | 2012 | |||||
Hypertrophic Cardiomyopathy
|
0.710 | CausalMutation | CLINVAR | Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome. | 20535210 | 2010 | |||||
Hypertrophic Cardiomyopathy
|
0.710 | CausalMutation | CLINVAR | Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines. | 26337637 | 2016 | |||||
Hypertrophic Cardiomyopathy
|
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 | |||||
Hypertrophic Cardiomyopathy
|
0.710 | CausalMutation | CLINVAR | Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation. | 23813970 | 2013 | |||||
Hypertrophic Cardiomyopathy
|
0.710 | CausalMutation | CLINVAR | Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. | 12058348 | 2002 | |||||
Hypertrophic Cardiomyopathy
|
0.710 | CausalMutation | CLINVAR | Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations. | 24935154 | 2014 | |||||
Hypertrophic Cardiomyopathy
|
0.710 | CausalMutation | CLINVAR | A novel PTPN11 mutation in LEOPARD syndrome. | 14961557 | 2003 |