Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.720 | Biomarker | disease | BEFREE | CD27 is a co-stimulatory molecule of T cells, and inherited CD27 deficiency is characterized by high susceptibility to EBV infection, though the underlying pathological mechanisms have not yet been identified. | 28011863 | 2017 | ||||
|
0.720 | Biomarker | disease | BEFREE | We sought to identify novel mutations in TNFRSF7/CD27 and to provide an overview of clinical, immunologic, and laboratory phenotypes in patients with CD27 deficiency. | 25843314 | 2015 | ||||
|
0.720 | Biomarker | disease | GENOMICS_ENGLAND | We sought to identify novel mutations in TNFRSF7/CD27 and to provide an overview of clinical, immunologic, and laboratory phenotypes in patients with CD27 deficiency. | 25843314 | 2015 | ||||
|
0.720 | GeneticVariation | disease | UNIPROT | Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27. | 22801960 | 2013 | ||||
|
0.720 | GeneticVariation | disease | UNIPROT | CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia. | 22197273 | 2012 | ||||
|
0.720 | GermlineCausalMutation | disease | ORPHANET | CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia. | 22197273 | 2012 | ||||
|
0.720 | CausalMutation | disease | CLINVAR | |||||||
|
0.720 | Biomarker | disease | CTD_human | |||||||
|
0.100 | CausalMutation | disease | CLINVAR | |||||||
|
0.010 | Biomarker | disease | BEFREE | Here we investigated the effect of bone marrow-derived and systemic CD27 deficiency in Apolipoprotein E-deficient (Apoe-/-) mice in early and advanced stages of atherosclerosis. | 29045618 | 2017 |