rs397507548, PTPN11

N. diseases: 6
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.
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
27 0.851 0.160 12 112489093 missense variant A/C snv 0.720 1.000 11 2003 2019
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 0.851 0.160 12 112489093 missense variant A/C snv 0.010 1.000 1 2003 2003
Multiple lentigines
CUI: C1328931
Disease: Multiple lentigines
12 0.851 0.160 12 112489093 missense variant A/C snv 0.010 1.000 1 2012 2012
Myelodysplasia
CUI: C0026985
Disease: Myelodysplasia
4 0.851 0.160 12 112489093 missense variant A/C snv 0.010 1.000 1 2010 2010
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
95 0.851 0.160 12 112489093 missense variant A/C snv 0.010 1.000 1 2010 2010
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.851 0.160 12 112489093 missense variant A/C snv 0.010 1.000 1 2012 2012