rs397507523, PTPN11

N. diseases: 3
Disease: LEOPARD Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.700 CausalMutation CLINVAR Diagnosis of Noonan syndrome and related disorders using target next generation sequencing. 24451042 2014
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.700 CausalMutation CLINVAR The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. 18470943 2008
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.700 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218 2006
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.700 CausalMutation CLINVAR PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome. 15985475 2005
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.700 CausalMutation CLINVAR Genotype-phenotype correlations in Noonan syndrome. 15001945 2004
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.700 CausalMutation CLINVAR Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. 12634870 2003