rs397507542, PTPN11

N. diseases: 9
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 1
CUI: C4551484
Disease: Leopard Syndrome 1
26 0.790 0.320 12 112489069 missense variant G/T snv 0.700 1.000 11 2002 2016
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
27 0.790 0.320 12 112489069 missense variant G/T snv 0.700 1.000 4 2004 2008
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.790 0.320 12 112489069 missense variant G/T snv 0.700 1.000 4 2004 2008
Cafe-au-Lait Spots
CUI: C0221263
Disease: Cafe-au-Lait Spots
32 0.790 0.320 12 112489069 missense variant G/T snv 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.790 0.320 12 112489069 missense variant G/T snv 0.700 0
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 0.790 0.320 12 112489069 missense variant G/T snv 0.700 0
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.790 0.320 12 112489069 missense variant G/T snv 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.790 0.320 12 112489069 missense variant G/T snv 0.700 0
Specific learning disability
CUI: C4025790
Disease: Specific learning disability
13 0.790 0.320 12 112489069 missense variant G/T snv 0.700 0