rs121918470, PTPN11

N. diseases: 10
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 0.160 12 112489105 missense variant A/C;G snv 4.0E-06 0.800 1.000 11 2002 2016
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
27 0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06 0.730 1.000 8 2004 2019
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
33 0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06 0.700 1.000 6 2004 2012
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06 0.700 1.000 4 2004 2006
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06 0.700 1.000 4 2004 2006
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06 0.700 1.000 4 2004 2006
Hearing Loss
CUI: C3887873
Disease: Hearing Loss
61 0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06 0.700 0
Multiple lentigines
CUI: C1328931
Disease: Multiple lentigines
12 0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06 0.700 0
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06 0.700 0