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: rs137852981
rs137852981 		0.752 0.480 2 144399104 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 1.000 1 2001 2001
dbSNP: rs1560618505
rs1560618505 		1.000 0.280 2 144424848 stop gained A/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 1.000 1 2007 2007
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: 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: 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: 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: 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: 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: rs1560609721
rs1560609721 		1.000 0.280 2 144404926 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: rs398124280
rs398124280 		1.000 0.280 2 144389732 stop gained AGTACC/CATTA 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: rs587784563
rs587784563 		1.000 0.280 2 144399231 stop gained G/A;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: rs587784566
rs587784566 		1.000 0.280 2 144398426 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: rs587784570
rs587784570 		0.925 0.280 2 144401292 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: rs587784571
rs587784571 		1.000 0.280 2 144401211 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: rs727504224
rs727504224 		1.000 0.280 2 144399311 stop gained C/A;T snv 2.4E-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: rs786204807
rs786204807 		1.000 0.280 2 144399910 stop gained 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: rs786204808
rs786204808 		1.000 0.280 2 144399438 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: rs786204815
rs786204815 		0.882 0.360 2 144400160 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: rs797046117
rs797046117 		1.000 0.280 2 144400081 stop gained A/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: rs797046120
rs797046120 		1.000 0.280 2 144396585 stop gained A/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: rs797046121
rs797046121 		1.000 0.280 2 144389959 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: rs797046122
rs797046122 		1.000 0.280 2 144404049 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