rs121918463, PTPN11

N. diseases: 6
Disease: Noonan Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.710 GeneticVariation BEFREE The patient heterozygous for c.854T>C had Noonan syndrome. 21901340 2012
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.710 CausalMutation CLINVAR PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots? 22681964 2011
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.710 CausalMutation CLINVAR A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins. 19120036 2009
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.710 CausalMutation CLINVAR The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. 18470943 2008
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.710 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218 2006
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.710 CausalMutation CLINVAR PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469 2002