rs121918462, PTPN11

N. diseases: 13
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.742 0.320 12 112450398 missense variant C/T snv 0.800 1.000 35 2001 2017
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.742 0.320 12 112450398 missense variant C/T snv 0.740 1.000 24 2002 2015
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
70 0.742 0.320 12 112450398 missense variant C/T snv 0.730 1.000 3 2004 2014
Abnormality of coagulation
CUI: C1846821
Disease: Abnormality of coagulation
15 0.742 0.320 12 112450398 missense variant C/T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.742 0.320 12 112450398 missense variant C/T snv 0.700 0
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
26 0.742 0.320 12 112450398 missense variant C/T snv 0.700 0
Metachondromatosis
CUI: C0410530
Disease: Metachondromatosis
29 0.742 0.320 12 112450398 missense variant C/T snv 0.700 0
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
40 0.742 0.320 12 112450398 missense variant C/T snv 0.700 0
Chronic myeloproliferative disorder
CUI: C1292778
Disease: Chronic myeloproliferative disorder
47 0.742 0.320 12 112450398 missense variant C/T snv 0.040 0.750 4 2005 2015
Myeloproliferative disease
CUI: C0027022
Disease: Myeloproliferative disease
43 0.742 0.320 12 112450398 missense variant C/T snv 0.020 0.500 2 2006 2015
Congenital thrombocytopenia
CUI: C0272278
Disease: Congenital thrombocytopenia
3 0.742 0.320 12 112450398 missense variant C/T snv 0.010 1.000 1 2013 2013
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.742 0.320 12 112450398 missense variant C/T snv 0.010 1.000 1 2015 2015
Hypertrophic obstructive cardiomyopathy
90 0.742 0.320 12 112450398 missense variant C/T snv 0.010 1.000 1 2015 2015