|
Cerebral Infarction
|
|
0.010 |
GeneticVariation
|
BEFREE |
Diseases associated with the RNF213 gene include moyamoya disease, with the p.R4810K (c.14429G>A, rs112735431) homozygous variant thought to be the most pathogenic and significantly associated with severe manifestation such as early onset or cerebral infarction at onset.
|
31806452 |
2020 |
|
Pulmonary arterial hypertension
|
|
0.010 |
GeneticVariation
|
BEFREE |
Poor outcomes in carriers of the RNF213 variant (p.Arg4810Lys) with pulmonary arterial hypertension.
|
31542298 |
2020 |
|
Idiopathic pulmonary arterial hypertension
|
|
0.010 |
GeneticVariation
|
BEFREE |
Documentation of the RNF213 p.Arg4810Lys variant, as well as already known pathogenic genes, such as BMPR2, can provide clinically relevant information for therapeutic strategies, leading to a personalized approach for the treatment of PAH.
|
31542298 |
2020 |
|
Familial (FPAH)
|
|
0.010 |
GeneticVariation
|
BEFREE |
In Japanese patients, a vast majority of patients carry the founder p.R4810K variant in the RNF213 gene, and familial cases are around 10%.
|
30908154 |
2019 |
|
Ischemic stroke
|
|
0.010 |
GeneticVariation
|
BEFREE |
Conclusions- The RNF213 p.R4810K variant is common in early-onset ischemic stroke with anterior circulation stenosis in Japan.
|
31060437 |
2019 |
|
Muscular Dystrophy, Duchenne
|
|
0.010 |
GeneticVariation
|
BEFREE |
Three female family members carried the same disease-causing mutations, c.9953_9954delAG of DMD and c.14429G>A of RNF213.
|
31347299 |
2019 |
|
Cerebral hypoperfusion
|
|
0.010 |
GeneticVariation
|
BEFREE |
To evaluate the role of RNF213 in adaptation of cerebral blood flow (CBF) under cerebral hypoperfusion, we performed bilateral common carotid artery stenosis surgery using external microcoils on Rnf213 knockout (KO) and vascular endothelial cell-specific Rnf213 mutant (human p.R4810K orthologue) transgenic (EC-Tg) mice.
|
29483617 |
2018 |
|
CADASIL Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
To determine whether RNF213 is associated with ICAS in CADASIL, we genotyped rs112735431 for 124 patients with CADASIL.
|
29500468 |
2018 |
|
Rheumatoid Arthritis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The p.R4810K heterozygous variant was identified in 5 patients, including 3 patients with atherosclerosis, 1 patient with Graves disease, and 1 patient with rheumatoid arthritis; it was also observed in one control.
|
28063898 |
2017 |
|
Cerebrovascular Disorders
|
|
0.010 |
GeneticVariation
|
BEFREE |
This study aimed to determine the effectiveness of genetic testing for the p.R4810K variant (rs112735431) of the Mysterin/RNF213 gene, which is associated with moyamoya disease and other intracranial vascular diseases, in the family members of patients with moyamoya disease.
|
28506590 |
2017 |
|
Arteriosclerosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The p.R4810K heterozygous variant was identified in 5 patients, including 3 patients with atherosclerosis, 1 patient with Graves disease, and 1 patient with rheumatoid arthritis; it was also observed in one control.
|
28063898 |
2017 |
|
Intracranial Arterial Diseases
|
|
0.010 |
GeneticVariation
|
BEFREE |
Genotyping of the p.R4810K missense variant is useful for identifying individuals with an elevated risk for steno-occlusive intracranial arterial diseases in the family members of patients with moyamoya disease.
|
28506590 |
2017 |
|
Hypertensive disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Further studies are needed to clarify the relationship between the rs112735431 polymorphism of the RNF213 and hypertension in patients with MMD.
|
28320162 |
2017 |
|
Coronary Artery Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The RNF213 p.R4810K variant appears to be significantly associated with coronary artery disease in the Japanese population.
|
28414759 |
2017 |
|
Coronary Arteriosclerosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The RNF213 p.R4810K variant appears to be significantly associated with coronary artery disease in the Japanese population.
|
28414759 |
2017 |
|
Coronary heart disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The RNF213 p.R4810K variant appears to be significantly associated with coronary artery disease in the Japanese population.
|
28414759 |
2017 |
|
Atherosclerosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The p.R4810K heterozygous variant was identified in 5 patients, including 3 patients with atherosclerosis, 1 patient with Graves disease, and 1 patient with rheumatoid arthritis; it was also observed in one control.
|
28063898 |
2017 |
|
Down Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
Early onset of moyamoya syndrome in a Down syndrome patient with the genetic variant RNF213 p.R4810K.
|
25547042 |
2015 |
|
Complete Trisomy 21 Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
Early onset of moyamoya syndrome in a Down syndrome patient with the genetic variant RNF213 p.R4810K.
|
25547042 |
2015 |
|
Vascular Diseases
|
|
0.020 |
GeneticVariation
|
BEFREE |
We were able to determine genetic predisposition to angiopathy by identifying the RNF213 c.14576G>A (rs112735431, p.R4859K) mutation.
|
31818681 |
2020 |
|
Cerebrovascular accident
|
|
0.020 |
GeneticVariation
|
BEFREE |
Prevalence of RNF213 p.R4810K Variant in Early-Onset Stroke With Intracranial Arterial Stenosis.
|
31060437 |
2019 |
|
Vascular Diseases
|
|
0.020 |
GeneticVariation
|
BEFREE |
Accumulating studies have reported that there is an association between the Ring finger protein 213 (RNF213) p.R4810K (rs112735431, c.14576G>A) single nucleotide polymorphism and the predisposition of moyamoya disease (MMD), intracranial major artery stenosis/occlusion (ICASO), quasi-moyamoya disease (quasi-MMD), and other vascular diseases.
|
29752070 |
2018 |
|
Cerebrovascular accident
|
|
0.020 |
GeneticVariation
|
BEFREE |
The p.Arg4810Lys variant was observed in half of patients with intracranial stenosis (176 of 352, 50.0%), in no healthy control subjects (n = 51), and in 3.2% of stroke control subjects (4 of 124 patients with other etiologies).
|
26125557 |
2015 |
|
Moyamoya disease 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
Due to a family history of moyamoya disease, a genetic investigation was performed and revealed RNF213 p.R4810K homozygous variant.
|
31806452 |
2020 |
|
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Due to a family history of moyamoya disease, a genetic investigation was performed and revealed RNF213 p.R4810K homozygous variant.
|
31806452 |
2020 |