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: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.500 None 1.000 10 1998 2019
CUI: C0003534
Disease: Aphakia
Aphakia 		disease Eye Diseases Anatomical Abnormality 5 3 0.020 None 1.000 2 2003 2003
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 105 104 0.080 None 1.000 8 1 1998 2019
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 0.440 None 1.000 4 2006 2012
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: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 2012 2012
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.010 None 1.000 1 2014 2014
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 103 7 0.010 None 1.000 1 2007 2007
CUI: C0344522
Disease: Congenital posterior polar cataract
Congenital posterior polar cataract 		disease Congenital Abnormality 3 0.010 None 1.000 1 2011 2011
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
CUI: C2025392
Disease: Polar cataract
Polar cataract 		disease Eye Diseases Congenital Abnormality 9 1 0.010 None 1.000 1 2011 2011
CUI: C0266544
Disease: Microcornea
Microcornea 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 129 10 0.100 None 0
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: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.300 None 0.893 28 4 2001 2020
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: 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: 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: 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: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		disease Eye Diseases Disease or Syndrome 67 9 0.310 None 1.000 3 2006 2019
CUI: C0524524
Disease: Pseudoaphakia
Pseudoaphakia 		disease Eye Diseases Disease or Syndrome 28 0.300 None 1.000 2 1998 2006
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: C0002726
Disease: Amyloidosis
Amyloidosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 694 93 0.010 None 1.000 1 2012 2012
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 2013 2013
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 2013 2013
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 155 132 0.010 None 1.000 1 2017 2017