rs121918467, PTPN11

N. diseases: 23
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 0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.800 1.000 17 2001 2017
Broad philtrum
CUI: C1854111
Disease: Broad philtrum
2 0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0
Coarse hair
CUI: C0277959
Disease: Coarse hair
4 0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0
Cutis marmorata
CUI: C0263401
Disease: Cutis marmorata
9 0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0
Deep palmar crease
CUI: C1857539
Disease: Deep palmar crease
8 0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0
Deep plantar creases
CUI: C1857953
Disease: Deep plantar creases
6 0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0
Feeding difficulties in infancy
CUI: C2674608
Disease: Feeding difficulties in infancy
22 0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0
High forehead
CUI: C0239676
Disease: High forehead
17 0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0
High, narrow palate
CUI: C1837404
Disease: High, narrow palate
21 0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0
Hyperextensible skin
CUI: C0241074
Disease: Hyperextensible skin
11 0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0
Malocclusion
CUI: C0024636
Disease: Malocclusion
10 0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0
Motor delay
CUI: C1854301
Disease: Motor delay
34 0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0
Neck webbing
CUI: C0221217
Disease: Neck webbing
19 0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0
Papule
CUI: C0332563
Disease: Papule
131 0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0
Posteriorly rotated ear
CUI: C0431478
Disease: Posteriorly rotated ear
23 0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
40 0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
46 0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0
Sparse and thin eyebrow
CUI: C4282407
Disease: Sparse and thin eyebrow
8 0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0
Sparse eyelashes
CUI: C1843300
Disease: Sparse eyelashes
4 0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0
Triangular face
CUI: C1835884
Disease: Triangular face
16 0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0
Underdeveloped supraorbital ridges
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
2 0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0