rs121918455, PTPN11

N. diseases: 31
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 0.695 0.440 12 112477720 missense variant A/C;G snv 0.800 1.000 17 2001 2017
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.695 0.440 12 112477720 missense variant A/C;G snv 0.710 1.000 9 2002 2017
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
33 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 1.000 14 2003 2009
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 1.000 4 2002 2009
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 1.000 4 2002 2009
Increased tendency to bruise
CUI: C0423798
Disease: Increased tendency to bruise
14 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 1.000 4 2002 2009
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 1.000 4 2002 2009
Septal hypertrophy
CUI: C0442887
Disease: Septal hypertrophy
11 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 1.000 4 2002 2009
Abnormality of the somatic nervous system
1 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
Cardiovascular Abnormalities
CUI: C0243050
Disease: Cardiovascular Abnormalities
12 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
Cerebral Palsy
CUI: C0007789
Disease: Cerebral Palsy
69 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
Coronary Aneurysm
CUI: C0010051
Disease: Coronary Aneurysm
17 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
Deep philtrum
CUI: C1839797
Disease: Deep philtrum
5 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
39 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
Episodic vomiting
CUI: C1838993
Disease: Episodic vomiting
10 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
Headache
CUI: C0018681
Disease: Headache
75 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
Heart murmur
CUI: C0018808
Disease: Heart murmur
10 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
70 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
26 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
Little's Disease
CUI: C0023882
Disease: Little's Disease
6 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
Metachondromatosis
CUI: C0410530
Disease: Metachondromatosis
29 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
obsolete Abnormal heart morphology
CUI: C4021866
Disease: obsolete Abnormal heart morphology
13 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
Papilledema
CUI: C0030353
Disease: Papilledema
1 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0