rs397507514, PTPN11

N. diseases: 10
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 0.790 0.240 12 112450408 missense variant G/C;T snv 0.800 1.000 17 2001 2017
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.790 0.240 12 112450408 missense variant G/C;T snv 0.710 1.000 9 2001 2011
Abnormality of the thorax
CUI: C4021797
Disease: Abnormality of the thorax
5 0.790 0.240 12 112450408 missense variant G/C;T snv 0.700 0
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.790 0.240 12 112450408 missense variant G/C;T snv 0.700 0
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
70 0.790 0.240 12 112450408 missense variant G/C;T snv 0.700 0
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
26 0.790 0.240 12 112450408 missense variant G/C;T snv 0.700 0
Metachondromatosis
CUI: C0410530
Disease: Metachondromatosis
29 0.790 0.240 12 112450408 missense variant G/C;T snv 0.700 0
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
40 0.790 0.240 12 112450408 missense variant G/C;T snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.790 0.240 12 112450408 missense variant G/C;T snv 0.700 0
Hematologic Neoplasms
CUI: C0376545
Disease: Hematologic Neoplasms
60 0.790 0.240 12 112450408 missense variant G/C;T snv 0.010 1.000 1 2007 2007