PITX3, paired like homeodomain 3, 5309

N. diseases: 63; N. variants: 5
Source: BEFREE ×
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: C1862839
Disease: Anterior segment mesenchymal dysgenesis
Anterior segment mesenchymal dysgenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 8 0.750 strong 1.000 5 1998 2012
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 385 111 0.500 None 1.000 9 1998 2019
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 161 18 0.440 None 1.000 4 2006 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2217 1332 0.320 None 1.000 2 1 2010 2017
CUI: C0009171
Disease: Cocaine Abuse
Cocaine Abuse 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 38 3 0.310 None 1.000 1 2004 2004
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		disease Eye Diseases Disease or Syndrome 50 8 0.310 None 1.000 1 2006 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 1952 751 0.300 None 0.893 25 4 2001 2020
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1219 153 0.110 None 1.000 1 2010 2010
CUI: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
Irido-corneo-trabecular dysgenesis (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 23 12 0.110 None 1.000 1 1 2018 2018
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases Congenital Abnormality 90 46 0.080 None 1.000 8 1 1998 2019
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		disease Eye Diseases Disease or Syndrome 166 37 0.060 None 1.000 6 1998 2018
CUI: C0266525
Disease: Irido-corneal dysgenesis
Irido-corneal dysgenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 22 2 0.030 None 1.000 3 2011 2014
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		disease Nervous System Diseases Disease or Syndrome 179 65 0.020 None 0.500 2 2009 2011
CUI: C0003534
Disease: Aphakia
Aphakia 		disease Eye Diseases Anatomical Abnormality 5 3 0.020 None 1.000 2 2003 2003
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2013 2013
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.010 None 1.000 1 2008 2008
CUI: C0349081
Disease: Dementia in Parkinson's disease
Dementia in Parkinson's disease 		disease Disease or Syndrome 9 2 0.010 None 1.000 1 2017 2017
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		disease Nervous System Diseases Disease or Syndrome 51 32 0.010 None 1.000 1 2 2010 2010
CUI: C0344522
Disease: Congenital posterior polar cataract
Congenital posterior polar cataract 		disease Congenital Abnormality 3 0.010 None 1.000 1 2011 2011
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1368 223 0.010 None 1.000 1 2012 2012
CUI: C0270736
Disease: Essential Tremor
Essential Tremor 		disease Nervous System Diseases Disease or Syndrome 119 74 0.010 None < 0.001 1 1 2017 2017
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1083 477 0.010 None 1.000 1 2019 2019
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases Congenital Abnormality 102 6 0.010 None 1.000 1 2007 2007
CUI: C2882221
Disease: Acute pulmonary embolism
Acute pulmonary embolism 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 42 0.010 None 1.000 1 2019 2019
CUI: C0392702
Disease: Abnormal involuntary movement
Abnormal involuntary movement 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 20 8 0.010 None 1.000 1 2019 2019