TREX1, three prime repair exonuclease 1, 11277

N. diseases: 20; N. variants: 34
Source: CURATED ×
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: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome 6 26 0.900 None 1.000 14 26 2004 2017
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome 8 4 0.900 strong 0.977 4 2000 2020
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 71 628 0.800 strong 0.967 5 9 2007 2020
CUI: C0024145
Disease: Chilblain lupus 1
Chilblain lupus 1 		disease Skin and Connective Tissue Diseases; Wounds and Injuries Disease or Syndrome 3 8 0.790 strong 1.000 4 8 2006 2017
CUI: C1860518
Disease: Vasculopathy, Retinal, With Cerebral Leukodystrophy
Vasculopathy, Retinal, With Cerebral Leukodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1 9 0.710 None 1.000 8 9 2006 2017
CUI: C3489724
Disease: Aicardi-Goutieres Syndrome 2
Aicardi-Goutieres Syndrome 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome 6 19 0.500 None 1.000 1 2004 2016
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group Eye Diseases Disease or Syndrome 27 2 0.420 strong 1.000 1 2003 2011
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 88 9 0.410 strong 1.000 1 2006 2015
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 218 417 0.400 strong 1.000 1 2 2008 2016
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE 		phenotype Finding 1 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 86 61 0.400 limited 1.000 1 2014 2014
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		disease Disease or Syndrome 35 0.310 strong 1.000 1 2015 2018
CUI: C0006111
Disease: Brain Diseases
Brain Diseases 		group Nervous System Diseases Disease or Syndrome 25 0.310 None 1.000 1 2006 2007
CUI: C4303791
Disease: Cerebroretinal vasculopathy
Cerebroretinal vasculopathy 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.310 strong 1.000 1 2003 2006
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group Nervous System Diseases Disease or Syndrome 27 0.300 None 1.000 1 2006 2006
CUI: C0021400
Disease: Influenza
Influenza 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 52 0.300 None 1.000 1 2013 2013
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: 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 447 6 0.300 strong 1.000 1 2015 2015
CUI: C0021368
Disease: Inflammation
Inflammation 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 127 0.300 None 1.000 1 2006 2006
CUI: C0242380
Disease: Libman-Sacks Disease
Libman-Sacks Disease 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 58 0.300 None 1.000 1 2007 2007