Source: CURATED

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: 100506658
Gene Symbol: OCLN
OCLN 		occludin 0.507 0.846 8.6E-07
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome 		disease 0.620 strong 1.000 2 3 2010 2016
Entrez Id: 11274
Gene Symbol: USP18
USP18 		ubiquitin specific peptidase 18 0.601 0.615 1.5E-03
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome 		disease 0.510 strong 1.000 1 0 2016 2016
Entrez Id: 103
Gene Symbol: ADAR
ADAR 		adenosine deaminase RNA specific 0.501 0.808 2.6E-02
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome 		disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		three prime repair exonuclease 1 0.517 0.808 0.58
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome 		disease 0.300 None 1.000 1 0 2006 2006
Entrez Id: 25939
Gene Symbol: SAMHD1
SAMHD1 		SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 0.547 0.769 6.5E-13
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome 		disease 0.300 None 1.000 1 0 2013 2013
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1 		interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome 		disease 0.300 None 1.000 1 0 2014 2014
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B 		ribonuclease H2 subunit B 0.595 0.615 3.3E-09
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome 		disease 0.300 None 0 0