TCF4, transcription factor 4, 6925

N. diseases: 378; N. variants: 111
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.
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 2 0.610 strong 1.000 2 2 2011 2015
CUI: C1839765
Disease: Triangular nasal tip
Triangular nasal tip
phenotype Finding 2 0.100 None 0
CUI: C4024917
Disease: Congenital encephalopathy
Congenital encephalopathy
disease Nervous System Diseases Congenital Abnormality 3 0.010 None 1.000 1 2009 2009
CUI: C0426430
Disease: Drooping nasal tip
Drooping nasal tip
phenotype Finding 3 1 0.100 None 0 1
CUI: C1828017
Disease: Intermittent hyperventilation
Intermittent hyperventilation
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 3 0.100 None 0
CUI: C1968816
Disease: Broad fingertip
Broad fingertip
phenotype Finding 3 1 0.100 None 0
CUI: C4021050
Disease: Dilated superficial abdominal veins
Dilated superficial abdominal veins
phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C4022766
Disease: Abnormal large intestine physiology
Abnormal large intestine physiology
phenotype Anatomical Abnormality 3 0.100 None 0
Elevated alkaline phosphatase of hepatic origin
phenotype Finding 3 0.100 None 0
CUI: C4022867
Disease: Spider hemangioma
Spider hemangioma
disease Disease or Syndrome 4 0.100 None 0
CUI: C4020948
Disease: Palmar telangiectasia
Palmar telangiectasia
disease Anatomical Abnormality 5 0.100 None 0
Failure of eruption of permanent teeth
disease Stomatognathic Diseases Anatomical Abnormality 5 0.100 None 0
CUI: C4025612
Disease: Polyclonal elevation of IgM
Polyclonal elevation of IgM
phenotype Finding 5 0.100 None 0
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 6 1 0.020 None 1.000 2 1 2011 2015
CUI: C0576227
Disease: Narrow foot
Narrow foot
phenotype Musculoskeletal Diseases Finding 6 1 0.100 None 0
CHROMOSOME Xq26.3 DUPLICATION SYNDROME
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 8 0.010 None 1.000 1 2019 2019
CUI: C1837503
Disease: Small cerebral cortex
Small cerebral cortex
phenotype Finding 8 1 0.100 None 0
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 9 58 1.000 definitive 1.000 52 58 2007 2019
Corneal dystrophy, Fuchs' endothelial, 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 9 7 0.040 None 1.000 4 2017 2019
CUI: C1855330
Disease: Cerebral hypoplasia
Cerebral hypoplasia
phenotype Finding 9 4 0.100 None 0 1
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 10 39 0.050 None 0.800 5 2007 2008
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 10 0.010 None 1.000 1 2012 2012
CUI: C4699184
Disease: Fuchs
Fuchs
disease Disease or Syndrome 10 5 0.010 None 1.000 1 1 2014 2014
CUI: C1856115
Disease: Happy demeanor
Happy demeanor
phenotype Finding 10 1 0.100 None 0
CUI: C0743101
Disease: developmentally delayed
developmentally delayed
phenotype Disease or Syndrome 11 0.010 None < 0.001 1 2011 2011