rs1057519819, MAP2K1

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.700 GeneticVariation CLINVAR MEK1 mutations confer resistance to MEK and B-RAF inhibition. 19915144 2009
Myeloproliferative disease
CUI: C0027022
Disease: Myeloproliferative disease
0.010 GeneticVariation BEFREE Co-occurrence of hypertrophic cardiomyopathy and myeloproliferative disorder in a neonate with Noonan syndrome carrying Thr73Ile mutation in PTPN11. 26286251 2015
Hypertrophic obstructive cardiomyopathy
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
0.010 GeneticVariation BEFREE Co-occurrence of hypertrophic cardiomyopathy and myeloproliferative disorder in a neonate with Noonan syndrome carrying Thr73Ile mutation in PTPN11. 26286251 2015
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.010 GeneticVariation BEFREE Here, we report a Japanese female infant with NS carrying the PTPN11 T73I mutation with NS/MPD, complete atrio-ventricular septal defect, and rapidly progressive HCM. 26286251 2015
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.010 GeneticVariation BEFREE Here, we report a Japanese female infant with NS carrying the PTPN11 T73I mutation with NS/MPD, complete atrio-ventricular septal defect, and rapidly progressive HCM. 26286251 2015
Chronic myeloproliferative disorder
CUI: C1292778
Disease: Chronic myeloproliferative disorder
0.010 GeneticVariation BEFREE Co-occurrence of hypertrophic cardiomyopathy and myeloproliferative disorder in a neonate with Noonan syndrome carrying Thr73Ile mutation in PTPN11. 26286251 2015