rs397507540, PTPN11

N. diseases: 8
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
CUI: C0028326
Disease: Noonan Syndrome
187 0.851 0.160 12 112489048 missense variant C/A;T snv 0.700 1.000 13 2004 2014
Abnormality of the sternum
CUI: C1860493
Disease: Abnormality of the sternum
11 0.851 0.160 12 112489048 missense variant C/A;T snv 0.700 0
Hearing Loss
CUI: C3887873
Disease: Hearing Loss
61 0.851 0.160 12 112489048 missense variant C/A;T snv 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.851 0.160 12 112489048 missense variant C/A;T snv 0.700 0
Multiple lentigines
CUI: C1328931
Disease: Multiple lentigines
12 0.851 0.160 12 112489048 missense variant C/A;T snv 0.700 0
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.851 0.160 12 112489048 missense variant C/A;T snv 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.851 0.160 12 112489048 missense variant C/A;T snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.851 0.160 12 112489048 missense variant C/A;T snv 0.700 0