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: 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: rs587776608
rs587776608 		1.000 0.280 2 144404874 frameshift variant -/CA ins 2.0E-05
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: rs786204802
rs786204802 		1.000 0.280 2 144517330 frameshift variant -/A 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: rs727503784
rs727503784 		1.000 0.280 2 144429811 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 1.000 2 1991 2008
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: 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: 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: rs1560620837
rs1560620837 		1.000 0.280 2 144429861 frameshift variant GGCA/- 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: rs398124281
rs398124281 		1.000 0.280 2 144404064 frameshift variant TAGCCCCGGTCGCAGTA/- 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: rs587776611
rs587776611 		1.000 0.280 2 144399325 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: rs727504226
rs727504226 		1.000 0.280 2 144399969 frameshift variant T/- 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: rs730881212
rs730881212 		1.000 0.280 2 144396477 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: rs786204806
rs786204806 		1.000 0.280 2 144404020 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: rs786204812
rs786204812 		1.000 0.280 2 144429867 frameshift variant AGAGCTT/- 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: rs786204818
rs786204818 		1.000 0.280 2 144399220 frameshift variant AT/- 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: rs786204820
rs786204820 		1.000 0.280 2 144399534 frameshift variant G/- 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: rs878855329
rs878855329 		1.000 0.280 2 144398509 frameshift variant GGTTTGG/- 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: 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: 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: 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: 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