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: 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 117 12 0.900 strong 0.977 43 3 2000 2020
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 7 26 0.900 None 1.000 38 26 2004 2017
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.800 strong 0.967 30 10 2007 2020
CUI: C0024145
Disease: Chilblain lupus 1
Chilblain lupus 1
disease Skin and Connective Tissue Diseases; Wounds and Injuries Disease or Syndrome 7 9 0.790 strong 1.000 32 9 2006 2017
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 2 9 0.710 None 1.000 28 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 4 2004 2016
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
group Eye Diseases Disease or Syndrome 714 56 0.420 strong 1.000 3 2003 2011
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: 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: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE
phenotype Finding 108 0.400 strong 1.000 1 2006 2006
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease Disease or Syndrome 60 4 0.310 strong 1.000 2 2015 2018
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: C4303791
Disease: Cerebroretinal vasculopathy
Cerebroretinal vasculopathy
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.310 strong 1.000 2 2003 2006
AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT
disease Disease or Syndrome 2 2 0.300 None 1.000 3 2 2004 2016
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
group Nervous System Diseases Disease or Syndrome 457 64 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 2165 159 0.300 strong 1.000 1 2015 2015
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: 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: 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: 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: C1835916
Disease: AICARDI-GOUTIERES SYNDROME 3
AICARDI-GOUTIERES SYNDROME 3
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome 2 7 0.200 None 1.000 3 2004 2016
AICARDI-GOUTIERES SYNDROME 5 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome 2 22 0.200 None 1.000 3 2004 2016
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6
disease Disease or Syndrome 2 13 0.200 None 1.000 3 2004 2016