TREX1, three prime repair exonuclease 1, 11277

N. diseases: 241; N. variants: 36
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: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.130 None 1.000 3 2003 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.030 None 1.000 3 1994 2017
CUI: C0042769
Disease: Virus Diseases
Virus Diseases
group Infections Disease or Syndrome 1471 42 0.030 None 1.000 3 2013 2016
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1180 140 0.410 strong 1.000 2 1 2006 2015
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.400 strong 1.000 2 2 2008 2016
CUI: C4303791
Disease: Cerebroretinal vasculopathy
Cerebroretinal vasculopathy
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.310 strong 1.000 2 2003 2006
CUI: C0006111
Disease: Brain Diseases
Brain Diseases
group Nervous System Diseases Disease or Syndrome 345 10 0.310 None 1.000 2 2006 2007
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease Disease or Syndrome 60 4 0.310 strong 1.000 2 2015 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.020 None 1.000 2 2008 2009
Human immunodeficiency virus (HIV) II infection category B1
disease Disease or Syndrome 985 56 0.020 None 1.000 2 2010 2012
CUI: C0275544
Disease: Congenital infectious disease
Congenital infectious disease
group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections Disease or Syndrome 29 7 0.020 None 1.000 2 2007 2008
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.020 None 1.000 2 2015 2017
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 40 23 0.020 None 1.000 2 2012 2013
CUI: C0019693
Disease: HIV Infections
HIV Infections
group Infections; Immune System Diseases Disease or Syndrome 807 142 0.020 None 1.000 2 1 2010 2013
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome
disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome 481 47 0.020 None 1.000 2 2013 2019
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE
phenotype Finding 108 0.400 strong 1.000 1 2006 2006
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.400 limited 1.000 1 2014 2014
CUI: C0242380
Disease: Libman-Sacks Disease
Libman-Sacks Disease
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 59 0.300 None 1.000 1 2007 2007
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 0.300 strong 1.000 1 2015 2015
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
group Nervous System Diseases Disease or Syndrome 457 64 0.300 None 1.000 1 2006 2006
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome 7 3 0.300 None 1.000 1 2006 2006
CUI: C0021400
Disease: Influenza
Influenza
disease Infections; Respiratory Tract Diseases Disease or Syndrome 858 17 0.300 None 1.000 1 2013 2013
CUI: C0021368
Disease: Inflammation
Inflammation
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 467 0.300 None 1.000 1 2006 2006
CUI: C0024137
Disease: Lupus Erythematosus, Cutaneous
Lupus Erythematosus, Cutaneous
disease Skin and Connective Tissue Diseases Disease or Syndrome 39 7 0.210 None 1.000 1 2009 2009
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
group Nervous System Diseases Disease or Syndrome 512 264 0.110 None 1.000 1 2008 2008