ZIC3, Zic family member 3, 7547

N. diseases: 93; N. variants: 19
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0344923
Disease: Multiple ventricular septal defects
Multiple ventricular septal defects
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 1 0.010 None 1.000 1 2010 2010
CUI: C4016468
Disease: VACTERL ASSOCIATION, X-LINKED
VACTERL ASSOCIATION, X-LINKED
phenotype Finding 1 0.300 strong 1.000 1 2011 2011
CUI: C0267581
Disease: Rectal Stenosis
Rectal Stenosis
disease Digestive System Diseases Disease or Syndrome 1 0.300 None 0
CUI: C4022693
Disease: Posteriorly placed anus
Posteriorly placed anus
disease Congenital Abnormality 1 0.100 None 0
CUI: C4553656
Disease: Rectal Stenosis, CTCAE
Rectal Stenosis, CTCAE
phenotype Finding 1 0.300 None 0
VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
disease Disease or Syndrome 2 0.500 None 1.000 3 2010 2014
CUI: C1866091
Disease: Left-Right Axis Malformations
Left-Right Axis Malformations
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.010 None 1.000 1 2000 2000
CUI: C3495537
Disease: Heterotaxy, Visceral, 5, Autosomal
Heterotaxy, Visceral, 5, Autosomal
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality 2 8 0.300 None 0
CUI: C0221215
Disease: Common atrioventricular canal
Common atrioventricular canal
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 4 2 0.010 None 1.000 1 2013 2013
VACTERL Association With Hydrocephalus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 5 7 0.410 None 1.000 2 2 1990 2011
CUI: C1845026
Disease: Neural tube defects X-linked
Neural tube defects X-linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 0.010 None 1.000 1 2000 2000
CUI: C4225671
Disease: VATER/VACTERL ASSOCIATION
VATER/VACTERL ASSOCIATION
disease Disease or Syndrome 8 2 0.020 None 1.000 2 2015 2016
CUI: C0344760
Disease: Congenital atresia of mitral valve
Congenital atresia of mitral valve
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 8 2 0.100 None 0
CUI: C4554010
Disease: Isomerism (body)
Isomerism (body)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality 9 0.110 None 1.000 1 2013 2013
CUI: C1167664
Disease: Situs ambiguous
Situs ambiguous
disease Congenital Abnormality 9 0.300 None 0
CUI: C0392482
Disease: Common atrium
Common atrium
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 11 1 0.100 None 0
CUI: C1735591
Disease: VACTERL Association
VACTERL Association
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Congenital Abnormality 15 0.010 None 1.000 1 2010 2010
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 15 1 0.400 None 0
CUI: C1856659
Disease: Polysplenia
Polysplenia
disease Congenital Abnormality 15 0.100 None 0
CUI: C0021845
Disease: Intestinal Perforation
Intestinal Perforation
disease Digestive System Diseases Disease or Syndrome 16 3 0.010 None 1.000 1 2019 2019
CUI: C0265240
Disease: Goldenhar Syndrome
Goldenhar Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 21 12 0.200 None 1.000 1 2007 2007
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 23 0.010 None 1.000 1 2018 2018
CUI: C1610065
Disease: Urethral atresia
Urethral atresia
disease Congenital Abnormality 23 1 0.100 None 0
CUI: C1405984
Disease: Absent radius
Absent radius
disease Congenital Abnormality 24 1 0.100 None 0
CUI: C1832117
Disease: Short humerus
Short humerus
phenotype Congenital Abnormality 24 0.100 None 0