Gene: SAMHD1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25939
Gene Symbol: SAMHD1
SAMHD1 		0.320 GeneticVariation disease BEFREE TREX1, SAMHD1 and ADAR1 are known LINE-1 repressors and when mutated cause the autoinflammatory disorder Aicardi-Goutières syndrome (AGS). 29959219 2018
Entrez Id: 25939
Gene Symbol: SAMHD1
SAMHD1 		0.320 Biomarker disease GENOMICS_ENGLAND A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions. 21102625 2011
Entrez Id: 25939
Gene Symbol: SAMHD1
SAMHD1 		0.320 GeneticVariation disease BEFREE The association of arthropathy with SAMHD1 mutations highlights a phenotypic overlap of AGS with familial autoinflammatory disorders such as chronic infantile neurological cutaneous and articular syndrome (CINCA). 20358604 2010