ZEB2, zinc finger E-box binding homeobox 2, 9839

N. diseases: 292; N. variants: 110
Disease: Mowat-Wilson syndrome ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060500653
rs1060500653 		1.000 0.280 2 144390001 frameshift variant C/- del
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs111724246
rs111724246 		1.000 0.280 2 144404063 stop gained G/C;T snv
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1135401790
rs1135401790 		1.000 0.280 2 144389926 missense variant C/T snv
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1135402759
rs1135402759 		1.000 0.280 2 144389932 missense variant T/C snv
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs137852980
rs137852980 		1.000 0.280 2 144399542 stop gained T/A;G snv 4.0E-06
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs137852982
rs137852982 		1.000 0.280 2 144398632 stop gained G/A;C snv 4.0E-06
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1423851170
rs1423851170 		1.000 0.280 2 144389896 stop gained G/T snv
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553960788
rs1553960788 		1.000 0.280 2 144389978 missense variant G/A snv
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553960793
rs1553960793 		1.000 0.280 2 144389987 stop gained T/A snv
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553961332
rs1553961332 		1.000 0.280 2 144396456 missense variant A/C snv
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553961487
rs1553961487 		1.000 0.280 2 144398381 frameshift variant C/- delins
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553961510
rs1553961510 		1.000 0.280 2 144398498 frameshift variant -/T delins
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553961580
rs1553961580 		1.000 0.280 2 144398960 frameshift variant A/- del
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553961585
rs1553961585 		1.000 0.280 2 144398972 frameshift variant -/GGAG delins
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553961598
rs1553961598 		1.000 0.280 2 144399034 stop gained -/TGGGAGCTAACGGCTTGGAGCTTCTTTCCAGGGATGGGGACCTGGAATTTGAGTACTGGTAGACTTTTCGTTGTTCAAACCATTCCTTCACAAATTCCTGAGGAAGGCCCACAGC delins
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553961610
rs1553961610 		1.000 0.280 2 144399115 stop gained C/T snv
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553961695
rs1553961695 		1.000 0.280 2 144399645 frameshift variant -/T ins
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553961702
rs1553961702 		1.000 0.280 2 144399698 stop gained G/A snv
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553961747
rs1553961747 		1.000 0.280 2 144400019 frameshift variant T/- delins
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553962198
rs1553962198 		1.000 0.280 2 144404947 frameshift variant C/- del
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553964145
rs1553964145 		1.000 0.280 2 144429852 frameshift variant -/C delins
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553964147
rs1553964147 		1.000 0.280 2 144429865 frameshift variant CA/- delins
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553971826
rs1553971826 		1.000 0.280 2 144517279 frameshift variant -/T delins
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1560604977
rs1560604977 		1.000 0.280 2 144396454 stop gained G/A snv
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1560605892
rs1560605892 		1.000 0.280 2 144398430 frameshift variant C/- delins
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0