rs121918466, PTPN11

N. diseases: 12
Source: CURATED ×
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
82 0.752 0.280 12 112450416 missense variant A/G snv 0.800 1.000 17 2001 2017
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
153 0.752 0.280 12 112450416 missense variant A/G snv 0.730 1.000 11 2001 2009
Congenital stenosis of pulmonary valve
CUI: C0162164
Disease: Congenital stenosis of pulmonary valve
3 0.752 0.280 12 112450416 missense variant A/G snv 0.700 1.000 7 2001 2007
Hypertrophic cardiomyopathy without obstruction
CUI: C0340425
Disease: Hypertrophic cardiomyopathy without obstruction
1 0.752 0.280 12 112450416 missense variant A/G snv 0.700 1.000 7 2001 2007
Cardiovascular Abnormalities
CUI: C0243050
Disease: Cardiovascular Abnormalities
8 0.752 0.280 12 112450416 missense variant A/G snv 0.700 0
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
55 0.752 0.280 12 112450416 missense variant A/G snv 0.700 0
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
26 0.752 0.280 12 112450416 missense variant A/G snv 0.700 0
Metachondromatosis
CUI: C0410530
Disease: Metachondromatosis
29 0.752 0.280 12 112450416 missense variant A/G snv 0.700 0
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
33 0.752 0.280 12 112450416 missense variant A/G snv 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.752 0.280 12 112450416 missense variant A/G snv 0.700 0
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
38 0.752 0.280 12 112450416 missense variant A/G snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.752 0.280 12 112450416 missense variant A/G snv 0.700 0