rs137852981, ZEB2

N. diseases: 30
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.
Mowat-Wilson syndrome
CUI: C1856113
Disease: Mowat-Wilson syndrome
93 0.752 0.480 2 144399104 stop gained G/A snv 0.700 1.000 1 2001 2001
Abnormality of the xiphoid process
CUI: C4021943
Disease: Abnormality of the xiphoid process
1 0.752 0.480 2 144399104 stop gained G/A snv 0.700 0
Bilateral arterial duct
CUI: C0431501
Disease: Bilateral arterial duct
1 0.752 0.480 2 144399104 stop gained G/A snv 0.700 0
Bulbous nose
CUI: C0240543
Disease: Bulbous nose
13 0.752 0.480 2 144399104 stop gained G/A snv 0.700 0
Congenital absence of spleen
CUI: C0600031
Disease: Congenital absence of spleen
6 0.752 0.480 2 144399104 stop gained G/A snv 0.700 0
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
36 0.752 0.480 2 144399104 stop gained G/A snv 0.700 0
Deep palmar crease
CUI: C1857539
Disease: Deep palmar crease
8 0.752 0.480 2 144399104 stop gained G/A snv 0.700 0
Deep plantar creases
CUI: C1857953
Disease: Deep plantar creases
6 0.752 0.480 2 144399104 stop gained G/A snv 0.700 0
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
39 0.752 0.480 2 144399104 stop gained G/A snv 0.700 0
Dysplastic aortic valve
CUI: C1866207
Disease: Dysplastic aortic valve
2 0.752 0.480 2 144399104 stop gained G/A snv 0.700 0
Hydronephrosis
CUI: C0020295
Disease: Hydronephrosis
18 0.752 0.480 2 144399104 stop gained G/A snv 0.700 0
Interrupted inferior vena cava with azygous continuation
CUI: C4023237
Disease: Interrupted inferior vena cava with azygous continuation
1 0.752 0.480 2 144399104 stop gained G/A snv 0.700 0
Multiple palmar creases
CUI: C1861872
Disease: Multiple palmar creases
2 0.752 0.480 2 144399104 stop gained G/A snv 0.700 0
Multiple plantar creases
CUI: C1861873
Disease: Multiple plantar creases
1 0.752 0.480 2 144399104 stop gained G/A snv 0.700 0
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
48 0.752 0.480 2 144399104 stop gained G/A snv 0.700 0
Nasal bridge wide
CUI: C1849367
Disease: Nasal bridge wide
29 0.752 0.480 2 144399104 stop gained G/A snv 0.700 0
obsolete Abnormal heart morphology
CUI: C4021866
Disease: obsolete Abnormal heart morphology
13 0.752 0.480 2 144399104 stop gained G/A snv 0.700 0
Perimembranous ventricular septal defect
CUI: C0344925
Disease: Perimembranous ventricular septal defect
3 0.752 0.480 2 144399104 stop gained G/A snv 0.700 0
Periorbital fullness
CUI: C1858036
Disease: Periorbital fullness
4 0.752 0.480 2 144399104 stop gained G/A snv 0.700 0
Pointed chin
CUI: C1844505
Disease: Pointed chin
13 0.752 0.480 2 144399104 stop gained G/A snv 0.700 0
Prominent glabella
CUI: C1860247
Disease: Prominent glabella
3 0.752 0.480 2 144399104 stop gained G/A snv 0.700 0
Redundant neck skin
CUI: C1840319
Disease: Redundant neck skin
3 0.752 0.480 2 144399104 stop gained G/A snv 0.700 0
Redundant skin
CUI: C0581342
Disease: Redundant skin
2 0.752 0.480 2 144399104 stop gained G/A snv 0.700 0
Retrognathia
CUI: C3494422
Disease: Retrognathia
11 0.752 0.480 2 144399104 stop gained G/A snv 0.700 0
Saddle nose
CUI: C0264169
Disease: Saddle nose
1 0.752 0.480 2 144399104 stop gained G/A snv 0.700 0