rs397507531, PTPN11

N. diseases: 18
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 0.320 12 112473040 missense variant T/C;G snv 0.800 1.000 15 2001 2017
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.752 0.320 12 112473040 missense variant T/C;G snv 0.700 1.000 20 1968 2016
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.752 0.320 12 112473040 missense variant T/C;G snv 0.700 1.000 20 1968 2016
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
33 0.752 0.320 12 112473040 missense variant T/C;G snv 0.700 1.000 8 2003 2009
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.752 0.320 12 112473040 missense variant T/C;G snv 0.700 1.000 5 2002 2009
Amblyopia
CUI: C0002418
Disease: Amblyopia
29 0.752 0.320 12 112473040 missense variant T/C;G snv 0.700 0
Hyperopia
CUI: C0020490
Disease: Hyperopia
29 0.752 0.320 12 112473040 missense variant T/C;G snv 0.700 0
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
283 0.752 0.320 12 112473040 missense variant T/C;G snv 0.700 0
Increased tendency to bruise
CUI: C0423798
Disease: Increased tendency to bruise
14 0.752 0.320 12 112473040 missense variant T/C;G snv 0.700 0
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
70 0.752 0.320 12 112473040 missense variant T/C;G snv 0.700 0
Late tooth eruption
CUI: C0239174
Disease: Late tooth eruption
4 0.752 0.320 12 112473040 missense variant T/C;G snv 0.700 0
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
26 0.752 0.320 12 112473040 missense variant T/C;G snv 0.700 0
Low-set, posteriorly rotated ears
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
19 0.752 0.320 12 112473040 missense variant T/C;G snv 0.700 0
Metachondromatosis
CUI: C0410530
Disease: Metachondromatosis
29 0.752 0.320 12 112473040 missense variant T/C;G snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.752 0.320 12 112473040 missense variant T/C;G snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.752 0.320 12 112473040 missense variant T/C;G snv 0.700 0
Specific learning disability
CUI: C4025790
Disease: Specific learning disability
13 0.752 0.320 12 112473040 missense variant T/C;G snv 0.700 0
Thumb deformity
CUI: C0575897
Disease: Thumb deformity
7 0.752 0.320 12 112473040 missense variant T/C;G snv 0.700 0