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: rs137852983
rs137852983 		1.000 0.280 2 144389740 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 0.800 1.000 5 2001 2011
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: rs1560607925
rs1560607925 		1.000 0.280 2 144401309 splice acceptor 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 1.000 1 2005 2005
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: rs398124282
rs398124282 		1.000 0.280 2 144517276 splice donor variant A/G 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 2005 2005
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: 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: rs397515448
rs397515448 		1.000 0.280 2 144389885 missense variant A/G 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: rs397515449
rs397515449 		1.000 0.280 2 144389962 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: rs587776612
rs587776612 		1.000 0.280 2 144517420 splice acceptor 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: 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