rs397507531, PTPN11

N. diseases: 18
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 GeneticVariation CLINVAR Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. 27521173 2016
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 GeneticVariation CLINVAR Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. 27521173 2016
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 GeneticVariation CLINVAR Audiological findings in Noonan syndrome. 27619028 2016
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 GeneticVariation CLINVAR Audiological findings in Noonan syndrome. 27619028 2016
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 GeneticVariation CLINVAR Chronic pain in Noonan Syndrome: A previously unreported but common symptom. 26297936 2015
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 GeneticVariation CLINVAR Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature. 26249544 2015
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 GeneticVariation CLINVAR Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature. 26249544 2015
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 GeneticVariation CLINVAR Chronic pain in Noonan Syndrome: A previously unreported but common symptom. 26297936 2015
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 GeneticVariation CLINVAR Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. 21500339 2011
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 GeneticVariation CLINVAR Noonan syndrome and clinically related disorders. 21396583 2011
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 GeneticVariation CLINVAR Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. 21533187 2011
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 GeneticVariation CLINVAR Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. 21533187 2011
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 GeneticVariation CLINVAR Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. 21500339 2011
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 GeneticVariation CLINVAR Noonan syndrome and clinically related disorders. 21396583 2011
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 GeneticVariation CLINVAR The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. 19467855 2009
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 GeneticVariation CLINVAR Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169 2009
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
0.700 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
0.700 CausalMutation CLINVAR A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins. 19120036 2009
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 GeneticVariation CLINVAR The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. 19467855 2009
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
0.700 CausalMutation CLINVAR Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. 18854871 2009
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 GeneticVariation CLINVAR Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169 2009
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 GeneticVariation CLINVAR Noonan syndrome. 17222357 2007
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 GeneticVariation CLINVAR Noonan syndrome. 17222357 2007
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.700 CausalMutation CLINVAR Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome. 17339163 2007
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 GeneticVariation CLINVAR Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 17056636 2007