rs397507549, 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 0.240 12 112489104 missense variant C/A;G snv 0.800 1.000 21 2001 2017
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
27 0.742 0.240 12 112489104 missense variant C/A;G snv 0.740 1.000 13 2005 2017
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
26 0.742 0.240 12 112489104 missense variant C/A;G snv 0.700 1.000 11 2002 2016
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.742 0.240 12 112489104 missense variant C/A;G snv 0.700 1.000 10 2005 2012
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
33 0.742 0.240 12 112489104 missense variant C/A;G snv 0.700 1.000 9 2006 2015
Dysplastic pulmonary valve
CUI: C1866206
Disease: Dysplastic pulmonary valve
3 0.742 0.240 12 112489104 missense variant C/A;G snv 0.700 1.000 2 2005 2006
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.742 0.240 12 112489104 missense variant C/A;G snv 0.700 1.000 2 2005 2006
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.742 0.240 12 112489104 missense variant C/A;G snv 0.020 1.000 2 2009 2017
Congestive heart failure
CUI: C0018802
Disease: Congestive heart failure
165 0.742 0.240 12 112489104 missense variant C/A;G snv 0.010 1.000 1 2017 2017
Heart failure
CUI: C0018801
Disease: Heart failure
201 0.742 0.240 12 112489104 missense variant C/A;G snv 0.010 1.000 1 2017 2017
Hypertrophic obstructive cardiomyopathy
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
90 0.742 0.240 12 112489104 missense variant C/A;G snv 0.010 1.000 1 2006 2006
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
114 0.742 0.240 12 112489104 missense variant C/A;G snv 0.010 1.000 1 2006 2006
Multiple lentigines
CUI: C1328931
Disease: Multiple lentigines
12 0.742 0.240 12 112489104 missense variant C/A;G snv 0.010 1.000 1 2006 2006