rs137852981, ZEB2

N. diseases: 30
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mowat-Wilson syndrome
CUI: C1856113
Disease: Mowat-Wilson syndrome
0.700 CausalMutation CLINVAR Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features. 11592033 2001
Bulbous nose
CUI: C0240543
Disease: Bulbous nose
0.700 CausalMutation CLINVAR
Perimembranous ventricular septal defect
CUI: C0344925
Disease: Perimembranous ventricular septal defect
0.700 CausalMutation CLINVAR
Interrupted inferior vena cava with azygous continuation
CUI: C4023237
Disease: Interrupted inferior vena cava with azygous continuation
0.700 CausalMutation CLINVAR
Redundant skin
CUI: C0581342
Disease: Redundant skin
0.700 CausalMutation CLINVAR
Saddle nose
CUI: C0264169
Disease: Saddle nose
0.700 CausalMutation CLINVAR
Dysplastic aortic valve
CUI: C1866207
Disease: Dysplastic aortic valve
0.700 CausalMutation CLINVAR
Abnormality of the xiphoid process
CUI: C4021943
Disease: Abnormality of the xiphoid process
0.700 CausalMutation CLINVAR
obsolete Abnormal heart morphology
CUI: C4021866
Disease: obsolete Abnormal heart morphology
0.700 CausalMutation CLINVAR
Periorbital fullness
CUI: C1858036
Disease: Periorbital fullness
0.700 CausalMutation CLINVAR
Bilateral arterial duct
CUI: C0431501
Disease: Bilateral arterial duct
0.700 CausalMutation CLINVAR
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
0.700 CausalMutation CLINVAR
Deep palmar crease
CUI: C1857539
Disease: Deep palmar crease
0.700 CausalMutation CLINVAR
Uplifted earlobe
CUI: C1856117
Disease: Uplifted earlobe
0.700 CausalMutation CLINVAR
Upward slant of palpebral fissure
CUI: C0423109
Disease: Upward slant of palpebral fissure
0.700 CausalMutation CLINVAR
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
0.700 CausalMutation CLINVAR
Multiple palmar creases
CUI: C1861872
Disease: Multiple palmar creases
0.700 CausalMutation CLINVAR
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
0.700 CausalMutation CLINVAR
Deep plantar creases
CUI: C1857953
Disease: Deep plantar creases
0.700 CausalMutation CLINVAR
Nasal bridge wide
CUI: C1849367
Disease: Nasal bridge wide
0.700 CausalMutation CLINVAR
Multiple plantar creases
CUI: C1861873
Disease: Multiple plantar creases
0.700 CausalMutation CLINVAR
Subaortic stenosis
CUI: C0340375
Disease: Subaortic stenosis
0.700 CausalMutation CLINVAR
Retrognathia
CUI: C3494422
Disease: Retrognathia
0.700 CausalMutation CLINVAR
Hydronephrosis
CUI: C0020295
Disease: Hydronephrosis
0.700 CausalMutation CLINVAR
Congenital absence of spleen
CUI: C0600031
Disease: Congenital absence of spleen
0.700 CausalMutation CLINVAR