|
MOYAMOYA DISEASE 2
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
MOYAMOYA DISEASE 2
|
|
0.700 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
A case-control study demonstrated strong association of p.R4810K with moyamoya disease in East Asian populations (251 cases and 707 controls) with an odds ratio of 111.8 (P = 10(-119)).
|
21799892 |
2011 |
|
Moyamoya disease 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
A case-control study demonstrated strong association of p.R4810K with moyamoya disease in East Asian populations (251 cases and 707 controls) with an odds ratio of 111.8 (P = 10(-119)).
|
21799892 |
2011 |
|
Moyamoya disease 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
A polymorphism (R4810K) in the Ring Finger Protein 213 (RNF213) gene, at chromosome 17q25.3, is the strongest genetic susceptibility factor for MMD in East Asian populations.
|
31650369 |
2019 |
|
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
A polymorphism (R4810K) in the Ring Finger Protein 213 (RNF213) gene, at chromosome 17q25.3, is the strongest genetic susceptibility factor for MMD in East Asian populations.
|
31650369 |
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 |
|
Moyamoya disease 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
Because most Japanese patients with moyamoya disease carry the p.R4810K variant of the ring finger 213 gene (RNF213), this may also be a risk factor for coronary artery disease; however, this possibility has never been tested.
|
28414759 |
2017 |
|
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Because of a family history of Moyamoya disease (MMD), genetic analysis was performed, and revealed that this patient was homozygous for RNF213 p.Arg4810Lys.
|
28962888 |
2018 |
|
Moyamoya disease 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
Because of a family history of Moyamoya disease (MMD), genetic analysis was performed, and revealed that this patient was homozygous for RNF213 p.Arg4810Lys.
|
28962888 |
2018 |
|
Moyamoya disease 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
Biochemical and Functional Characterization of RNF213 (Mysterin) R4810K, a Susceptibility Mutation of Moyamoya Disease, in Angiogenesis In Vitro and In Vivo.
|
26126547 |
2015 |
|
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Biochemical and Functional Characterization of RNF213 (Mysterin) R4810K, a Susceptibility Mutation of Moyamoya Disease, in Angiogenesis In Vitro and In Vivo.
|
26126547 |
2015 |
|
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 |
|
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Development of atherosclerotic-moyamoya syndrome with genetic variant of RNF213 p.R4810K and p.T1727M: A case report.
|
29567577 |
2018 |
|
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 |
|
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 |
|
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 |
|
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Early onset of moyamoya syndrome in a Down syndrome patient with the genetic variant RNF213 p.R4810K.
|
25547042 |
2015 |
|
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 |
|
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Frequency of RNF213 p.R4810K, a susceptibility variant for moyamoya disease, and health characteristics of carriers in the Japanese population.
|
27365075 |
2016 |
|
Moyamoya disease 1
|
|
0.100 |
GeneticVariation
|
BEFREE |
Frequency of RNF213 p.R4810K, a susceptibility variant for moyamoya disease, and health characteristics of carriers in the Japanese population.
|
27365075 |
2016 |
|
Moyamoya Disease
|
|
0.100 |
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 |
|
Moyamoya disease 1
|
|
0.100 |
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 |