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: 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.010 None 1.000 1 2013 2013
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.300 None 1.000 1 2010 2010
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: C0027765
Disease: nervous system disorder
nervous system disorder 		group Nervous System Diseases Disease or Syndrome 977 39 0.010 None 1.000 1 2017 2017
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.300 None 1.000 1 2016 2016
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 233 30 0.300 None 1.000 1 2006 2006
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: 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: 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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2013 2013
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 2165 159 0.110 None 1.000 1 2010 2010
CUI: C1510497
Disease: Lens Opacities
Lens Opacities 		phenotype Eye Diseases Finding 24 0.300 None 1.000 2 1998 2006
CUI: C0027643
Disease: Neoplasm Recurrence, Local
Neoplasm Recurrence, Local 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 39 0.300 None 1.000 1 2016 2016
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: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		phenotype Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 649 224 0.010 None 1.000 1 2018 2018
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 91 9 0.010 None 1.000 1 2012 2012
CUI: C0233763
Disease: Hallucinations, Visual
Hallucinations, Visual 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 39 5 0.010 None 1.000 1 2017 2017
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: 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: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2018 2018
CUI: C0008489
Disease: Chorea
Chorea 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 168 20 0.100 None 0
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 197 21 0.100 None 0
CUI: C0423250
Disease: Corneal stromal opacities
Corneal stromal opacities 		phenotype Eye Diseases Finding 46 0.100 None 0