RNF207, ring finger protein 207, 388591

N. diseases: 6; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027626
Disease: Neoplasm Invasiveness
Neoplasm Invasiveness 		0.300 Biomarker phenotype CTD_human DNA methylation in ductal carcinoma in situ related with future development of invasive breast cancer. 26213588 2015
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.100 GeneticVariation phenotype GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE 		0.100 GeneticVariation phenotype GWASCAT Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality. 27798624 2016
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.100 GeneticVariation phenotype GWASCAT Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. 24952745 2014
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.100 GeneticVariation phenotype GWASDB Common variants at ten loci influence QT interval duration in the QTGEN Study. 19305408 2009
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.100 GeneticVariation phenotype GWASDB Common variants at ten loci modulate the QT interval duration in the QTSCD Study. 19305409 2009
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.100 GeneticVariation phenotype GWASCAT Common variants at ten loci modulate the QT interval duration in the QTSCD Study. 19305409 2009
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.100 GeneticVariation phenotype GWASCAT Common variants at ten loci influence QT interval duration in the QTGEN Study. 19305408 2009
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.010 Biomarker disease BEFREE In this research, we reported a rare novel mutation of RNF207 in LQTS and syncope patients which further supports the significant role of RNF207 in potassium channel activation and expanded the spectrum of RNF207 mutations. 30542207 2019
CUI: C0039070
Disease: Syncope
Syncope 		0.010 AlteredExpression phenotype BEFREE In mutation carriers, the level of RNF207 mRNA expression was much lower than controls, which may affect potassium channel KCNH2 and lead to LQTS and syncope. 30542207 2019
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		0.010 Biomarker disease BEFREE Finally, receiver operating characteristic (ROC) curve analysis indicated that Rnf207 showed a similar sensitivity and specificity to the classic biomarker troponin I for diagnosis of AMI. 25599194 2015