Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 11277
Gene Symbol: TREX1
TREX1
three prime repair exonuclease 1 0.517 0.808 0.58
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME
disease 0.900 strong 0.977 1 0 2000 2020
Entrez Id: 25939
Gene Symbol: SAMHD1
SAMHD1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 0.547 0.769 6.5E-13
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME
disease 0.800 strong 0.978 3 0 2009 2019
Entrez Id: 103
Gene Symbol: ADAR
ADAR
adenosine deaminase RNA specific 0.501 0.808 2.6E-02
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME
disease 0.800 strong 1.000 1 0 2012 2020
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME
disease 0.700 strong 1.000 1 0 2014 2019
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B
ribonuclease H2 subunit B 0.595 0.615 3.3E-09
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME
disease 0.680 strong 1.000 1 0 2006 2019
Entrez Id: 10535
Gene Symbol: RNASEH2A
RNASEH2A
ribonuclease H2 subunit A 0.592 0.692 4.2E-03
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME
disease 0.440 strong 1.000 1 0 2007 2016
Entrez Id: 84153
Gene Symbol: RNASEH2C
RNASEH2C
ribonuclease H2 subunit C 0.590 0.731 5.5E-03
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME
disease 0.360 strong 0.857 1 0 2009 2019