PITX3, paired like homeodomain 3, 5309

N. diseases: 93; N. variants: 8
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: C1864567
Disease: CATARACT, POSTERIOR POLAR, 4 (disorder)
CATARACT, POSTERIOR POLAR, 4 (disorder) 		disease Eye Diseases Disease or Syndrome 1 2 0.700 None 1.000 5 2 1998 2014
CUI: C1970386
Disease: Cataract, Posterior Polar, 4, With Microphthalmia And Neurodevelopmental Abnormalities
Cataract, Posterior Polar, 4, With Microphthalmia And Neurodevelopmental Abnormalities 		disease Eye Diseases Disease or Syndrome 1 0.300 None 1.000 1 2004 2004
CUI: C3807150
Disease: CATARACT 11, POSTERIOR POLAR
CATARACT 11, POSTERIOR POLAR 		phenotype Finding 1 1 0.100 None 0 1
CUI: C3807151
Disease: CATARACT 11, POSTERIOR POLAR, WITH MICROPHTHALMIA AND NEURODEVELOPMENTAL ABNORMALITIES
CATARACT 11, POSTERIOR POLAR, WITH MICROPHTHALMIA AND NEURODEVELOPMENTAL ABNORMALITIES 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4551992
Disease: ANTERIOR SEGMENT DYSGENESIS 1
ANTERIOR SEGMENT DYSGENESIS 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 3 1 0.600 None 1.000 4 1 2004 2014
CUI: C0344522
Disease: Congenital posterior polar cataract
Congenital posterior polar cataract 		disease Congenital Abnormality 3 0.010 None 1.000 1 2011 2011
CUI: C0477984
Disease: Other congenital malformations of anterior segment of eye
Other congenital malformations of anterior segment of eye 		disease Congenital Abnormality 4 0.200 None 0
CUI: C0003534
Disease: Aphakia
Aphakia 		disease Eye Diseases Anatomical Abnormality 5 3 0.020 None 1.000 2 2003 2003
CUI: C0422837
Disease: Neurological observations
Neurological observations 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 6 0.300 None 1.000 1 2006 2006
CUI: C0746857
Disease: Focal Neurologic Deficits
Focal Neurologic Deficits 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 6 0.300 None 1.000 1 2006 2006
CUI: C0751377
Disease: Neurologic Dysfunction
Neurologic Dysfunction 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 6 0.300 None 1.000 1 2006 2006
CUI: C0521654
Disease: Neurologic Deficits
Neurologic Deficits 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 8 4 0.300 None 1.000 1 2006 2006
CUI: C1850191
Disease: Posterior polar cataract
Posterior polar cataract 		phenotype Finding 8 0.100 None 0
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: C2025392
Disease: Polar cataract
Polar cataract 		disease Eye Diseases Congenital Abnormality 9 1 0.010 None 1.000 1 2011 2011
CUI: C0027854
Disease: Neurologic Manifestations
Neurologic Manifestations 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 12 0.300 None 1.000 1 2006 2006
CUI: C1862839
Disease: Anterior segment mesenchymal dysgenesis
Anterior segment mesenchymal dysgenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 13 2 0.750 strong 1.000 5 1998 2012
CUI: C0751378
Disease: Neurologic Signs
Neurologic Signs 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 13 1 0.300 None 1.000 1 2006 2006
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT 		disease Eye Diseases Disease or Syndrome 14 10 0.300 strong 1.000 1 2004 2004
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: C0392702
Disease: Abnormal involuntary movement
Abnormal involuntary movement 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 22 10 0.010 None 1.000 1 2019 2019
CUI: C0037061
Disease: Siderosis
Siderosis 		disease Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome 23 2 0.010 None 1.000 1 2017 2017
CUI: C1510497
Disease: Lens Opacities
Lens Opacities 		phenotype Eye Diseases Finding 24 0.300 None 1.000 2 1998 2006
CUI: C0524524
Disease: Pseudoaphakia
Pseudoaphakia 		disease Eye Diseases Disease or Syndrome 28 0.300 None 1.000 2 1998 2006
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 35 12 0.110 None 1.000 1 1 2018 2018