rs397507509, 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.
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.807 0.240 12 112450359 missense variant G/C;T snv 0.800 1.000 2 2010 2014
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.807 0.240 12 112450359 missense variant G/C;T snv 0.710 1.000 14 2002 2014
Hearing Loss
CUI: C3887873
Disease: Hearing Loss
61 0.807 0.240 12 112450359 missense variant G/C;T snv 0.700 0
Multiple lentigines
CUI: C1328931
Disease: Multiple lentigines
12 0.807 0.240 12 112450359 missense variant G/C;T snv 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.807 0.240 12 112450359 missense variant G/C;T snv 0.700 0
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.807 0.240 12 112450359 missense variant G/C;T snv 0.010 1.000 1 2008 2008
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.807 0.240 12 112450359 missense variant G/C;T snv 0.010 1.000 1 2008 2008
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
386 0.807 0.240 12 112450359 missense variant G/C;T snv 0.010 1.000 1 2008 2008
Solid Neoplasm
CUI: C0280100
Disease: Solid Neoplasm
24 0.807 0.240 12 112450359 missense variant G/C;T snv 0.010 1.000 1 2008 2008