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: 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: 25939
Gene Symbol: SAMHD1
SAMHD1 		SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 0.547 0.769 6.5E-13
CUI: C2749659
Disease: AICARDI-GOUTIERES SYNDROME 5 (disorder)
AICARDI-GOUTIERES SYNDROME 5 (disorder) 		disease 0.700 None 1.000 6 0 2009 2018
Entrez Id: 25939
Gene Symbol: SAMHD1
SAMHD1 		SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 0.547 0.769 6.5E-13
CUI: C3280721
Disease: CHILBLAIN LUPUS 2
CHILBLAIN LUPUS 2 		disease 0.700 strong 1.000 1 0 2009 2011
Entrez Id: 25939
Gene Symbol: SAMHD1
SAMHD1 		SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 0.547 0.769 6.5E-13
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.400 limited 1.000 1 0 2010 2010
Entrez Id: 25939
Gene Symbol: SAMHD1
SAMHD1 		SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 0.547 0.769 6.5E-13
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.400 strong 1.000 1 0 2018 2018
Entrez Id: 25939
Gene Symbol: SAMHD1
SAMHD1 		SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 0.547 0.769 6.5E-13
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		disease 0.320 strong 1.000 1 0 2010 2018
Entrez Id: 25939
Gene Symbol: SAMHD1
SAMHD1 		SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 0.547 0.769 6.5E-13
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		disease 0.300 strong 1.000 1 0 2010 2010