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: 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
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: 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 2 9 0.710 None 1.000 28 9 2006 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.100 None 0.909 22 1 2007 2020
CUI: C4551515
Disease: Chilblain lupus erythematosus
Chilblain lupus erythematosus 		disease Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 7 2 0.100 None 1.000 10 2 2007 2017
CUI: C0409974
Disease: Lupus Erythematosus
Lupus Erythematosus 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 558 44 0.090 None 1.000 9 3 2007 2019
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
Lupus Erythematosus, Discoid 		disease Skin and Connective Tissue Diseases Disease or Syndrome 552 46 0.080 None 1.000 8 3 2010 2019
CUI: C0024131
Disease: Lupus Vulgaris
Lupus Vulgaris 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 526 44 0.080 None 1.000 8 3 2010 2019
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 190 27 0.150 None 1.000 5 2007 2017
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 688 40 0.050 None 1.000 5 2007 2019
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: C0008058
Disease: Chilblains
Chilblains 		disease Wounds and Injuries Disease or Syndrome 12 4 0.140 None 1.000 4 2 2007 2017
CUI: C1290884
Disease: Inflammatory disorder
Inflammatory disorder 		group Pathological Conditions, Signs and Symptoms Disease or Syndrome 391 8 0.040 None 1.000 4 2009 2015
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		disease Disease or Syndrome 695 94 0.040 None 0.750 4 2012 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.040 None 1.000 4 2009 2019
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group Eye Diseases Disease or Syndrome 714 56 0.420 strong 1.000 3 2003 2011
CUI: C3150315
Disease: AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT
AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT 		disease Disease or Syndrome 2 2 0.300 None 1.000 3 2 2004 2016
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
CUI: C1835912
Disease: AICARDI-GOUTIERES SYNDROME 4
AICARDI-GOUTIERES SYNDROME 4 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome 3 13 0.200 None 1.000 3 2004 2016
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
AICARDI-GOUTIERES SYNDROME 7 		disease Disease or Syndrome 2 15 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
CUI: C0477365
Disease: Other specified degenerative diseases of nervous system
Other specified degenerative diseases of nervous system 		group Disease or Syndrome 1 0.200 None 1.000 3 2004 2016
CUI: C2749659
Disease: AICARDI-GOUTIERES SYNDROME 5 (disorder)
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