rs397507539, 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 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.851 0.160 12 112489047 missense variant C/A;G;T snv 4.0E-06 0.800 1.000 17 2001 2017
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.851 0.160 12 112489047 missense variant C/A;G;T snv 4.0E-06 0.720 1.000 8 2004 2018
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.851 0.160 12 112489047 missense variant C/A;G;T snv 4.0E-06 0.700 0
Hearing Loss
CUI: C3887873
Disease: Hearing Loss
61 0.851 0.160 12 112489047 missense variant C/A;G;T snv 4.0E-06 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.851 0.160 12 112489047 missense variant C/A;G;T snv 4.0E-06 0.700 0
Multiple lentigines
CUI: C1328931
Disease: Multiple lentigines
12 0.851 0.160 12 112489047 missense variant C/A;G;T snv 4.0E-06 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.851 0.160 12 112489047 missense variant C/A;G;T snv 4.0E-06 0.700 0
Postnatal growth retardation
CUI: C1859778
Disease: Postnatal growth retardation
11 0.851 0.160 12 112489047 missense variant C/A;G;T snv 4.0E-06 0.700 0