rs121918457, PTPN11

N. diseases: 24
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
0.800 GeneticVariation UNIPROT Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling. 26742426 2016
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
0.800 GeneticVariation UNIPROT A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. 24891296 2014
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
0.800 GeneticVariation UNIPROT "PTPN11 gene mutations: linking the Gln510Glu mutation to the ""LEOPARD syndrome phenotype""." 16733669 2006
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
0.800 GeneticVariation UNIPROT Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive). 16679933 2006
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
0.800 GeneticVariation UNIPROT Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11. 15690106 2005
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
0.800 GeneticVariation UNIPROT PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. 15520399 2004
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
0.800 GeneticVariation UNIPROT Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome. 15389709 2004
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
0.800 GeneticVariation UNIPROT Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. 15121796 2004
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
0.800 GeneticVariation UNIPROT A novel PTPN11 mutation in LEOPARD syndrome. 14961557 2003
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
0.800 GeneticVariation UNIPROT Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. 12058348 2002
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
0.800 CausalMutation CLINVAR
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 CausalMutation CLINVAR ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 29493581 2018
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 GeneticVariation BEFREE We report a patient with Noonan syndrome with multiple lentigines (NSML) due to a PTPN11 (p.Thr468Met) mutation associated with hypertrophic neuropathy of lumbar plexus in an adult woman, initially referred for neuropathic pain. 26952712 2016
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 GeneticVariation BEFREE The present study reports a young child diagnosed with LS via identification of a common p.Thr468Met mutation in PTPN11. 27484170 2016
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 CausalMutation CLINVAR PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain. 25884655 2015
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 CausalMutation CLINVAR A new examination of the patient and his similarly affected father, who was initially referred as healthy, led us to suspect LEOPARD syndrome, The diagnosis was then confirmed by the occurrence in both patients of a heterozygous mutation c.1403 C > T, p.(Thr468Met), of PTPN11. 24767283 2014
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 CausalMutation CLINVAR Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations. 24935154 2014
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 CausalMutation CLINVAR Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation. 23813970 2013
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 CausalMutation CLINVAR Pediatric cardiomyopathy: importance of genetic and metabolic evaluation. 22555271 2012
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 CausalMutation CLINVAR 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
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 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
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 CausalMutation CLINVAR PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots? 22681964 2011
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 GeneticVariation BEFREE LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria. 21365175 2011
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 CausalMutation CLINVAR Direct sequencing of the patients' genomic DNA revealed that all three had a consistent missense mutation [c.1403C > T (p.T468M)] in the PTPN11 gene, confirming LEOPARD syndrome with an atypical phenotype. 20883402 2010
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 GeneticVariation BEFREE Direct sequencing of the patients' genomic DNA revealed that all three had a consistent missense mutation [c.1403C > T (p.T468M)] in the PTPN11 gene, confirming LEOPARD syndrome with an atypical phenotype. 20883402 2010