rs28933386, PTPN11

N. diseases: 15
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 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 0.800 1.000 35 2001 2018
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 0.720 1.000 15 2001 2019
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 20 1968 2016
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 20 1968 2016
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
26 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 19 2001 2018
Metachondromatosis
CUI: C0410530
Disease: Metachondromatosis
29 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 19 2001 2018
Congenital stenosis of pulmonary valve
3 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 2 2001 2006
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 2 2001 2006
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
1085 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 2 2001 2006
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 2 2001 2006
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 2 2001 2006
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 2 2001 2006
Short stature
CUI: C0349588
Disease: Short stature
292 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 2 2001 2006
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
70 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
Hepatoblastoma
CUI: C0206624
Disease: Hepatoblastoma
22 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 0.010 1.000 1 2008 2008