Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 165918
Gene Symbol: RNF168
RNF168
0.970 Biomarker disease BEFREE Further mining of the UBE2U interactome uncovered its cognate E3 RNF17 as a novel factor that, via the radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties (RIDDLE) syndrome protein RNF168, enforces DNA damage responses. 27903633 2017
Entrez Id: 165918
Gene Symbol: RNF168
RNF168
0.970 GeneticVariation disease BEFREE Furthermore, high frequency of RNF168 c.640_644del5 indicates the need for its testing in Finnish patients with RIDDLE syndrome symptoms. 28386063 2017
Entrez Id: 165918
Gene Symbol: RNF168
RNF168
0.970 GeneticVariation disease BEFREE To evaluate RIDDLE syndrome (radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties), we sequenced the remaining RNF168 gene and examined her fibroblast culture for a DNA double strand break repair deficiency. 28432740 2017
Entrez Id: 165918
Gene Symbol: RNF168
RNF168
0.970 Biomarker disease GENOMICS_ENGLAND Clinical and Biological Manifestation of RNF168 Deficiency in Two Polish Siblings. 29255463 2017
Entrez Id: 165918
Gene Symbol: RNF168
RNF168
0.970 GeneticVariation disease BEFREE Here we report that RNF168, an E3 ligase mutated in the human RIDDLE syndrome, interacts with TOP2α and mediates its ubiquitylation. 27558965 2016
Entrez Id: 165918
Gene Symbol: RNF168
RNF168
0.970 Biomarker disease MGD In addition, RNF168 mutations have been causally linked to the human RIDDLE syndrome. 21552324 2011
Entrez Id: 165918
Gene Symbol: RNF168
RNF168
0.970 GeneticVariation disease BEFREE While recessive mutations in RNF168 cause RIDDLE syndrome, an immune deficiency and radiosensitivity disorder, the potential impact of heterozygous deletion of RNF168 on patients with the 3q29 deletion syndrome is still unknown. 21626679 2011
Entrez Id: 165918
Gene Symbol: RNF168
RNF168
0.970 GeneticVariation disease BEFREE We focus on a newly described human immunodeficiency disorder called radiosensitivity, immunodeficiency dysmorphic features and learning difficulties (RIDDLE) syndrome, with particular reference to the function of the defective gene, RNF168. 21426255 2011
Entrez Id: 165918
Gene Symbol: RNF168
RNF168
0.970 GermlineCausalMutation disease ORPHANET Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia. 21394101 2011
Entrez Id: 165918
Gene Symbol: RNF168
RNF168
0.970 Biomarker disease BEFREE These RNF168-dependent chromatin modifications orchestrate the accumulation of 53BP1 and BRCA1 to DNA lesions, and their loss is the likely cause of the cellular and developmental phenotypes associated with RIDDLE syndrome. 19203578 2009
Entrez Id: 165918
Gene Symbol: RNF168
RNF168
0.970 GermlineCausalMutation disease ORPHANET These RNF168-dependent chromatin modifications orchestrate the accumulation of 53BP1 and BRCA1 to DNA lesions, and their loss is the likely cause of the cellular and developmental phenotypes associated with RIDDLE syndrome. 19203578 2009
Entrez Id: 165918
Gene Symbol: RNF168
RNF168
0.970 Biomarker disease GENOMICS_ENGLAND RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling. 17940005 2007
Entrez Id: 165918
Gene Symbol: RNF168
RNF168
0.970 Biomarker disease CTD_human
Entrez Id: 165918
Gene Symbol: RNF168
RNF168
0.970 CausalMutation disease CLINVAR
Entrez Id: 7158
Gene Symbol: TP53BP1
TP53BP1
0.020 Biomarker disease BEFREE These RNF168-dependent chromatin modifications orchestrate the accumulation of 53BP1 and BRCA1 to DNA lesions, and their loss is the likely cause of the cellular and developmental phenotypes associated with RIDDLE syndrome. 19203578 2009
Entrez Id: 7158
Gene Symbol: TP53BP1
TP53BP1
0.020 Biomarker disease BEFREE Here, we describe a patient with a previously undescribed syndrome, which we have termed RIDDLE syndrome (radiosensitivity, immunodeficiency, dysmorphic features and learning difficulties), whose cells lack an ability to recruit 53BP1 to sites of DNA double-strand breaks. 17940005 2007
Entrez Id: 56163
Gene Symbol: RNF17
RNF17
0.010 Biomarker disease BEFREE Further mining of the UBE2U interactome uncovered its cognate E3 RNF17 as a novel factor that, via the radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties (RIDDLE) syndrome protein RNF168, enforces DNA damage responses. 27903633 2017
Entrez Id: 148581
Gene Symbol: UBE2U
UBE2U
0.010 Biomarker disease BEFREE Further mining of the UBE2U interactome uncovered its cognate E3 RNF17 as a novel factor that, via the radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties (RIDDLE) syndrome protein RNF168, enforces DNA damage responses. 27903633 2017
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
0.010 Biomarker disease BEFREE These RNF168-dependent chromatin modifications orchestrate the accumulation of 53BP1 and BRCA1 to DNA lesions, and their loss is the likely cause of the cellular and developmental phenotypes associated with RIDDLE syndrome. 19203578 2009