Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57674
Gene Symbol: RNF213
RNF213
CUI: C1846689
Disease: MOYAMOYA DISEASE 2
MOYAMOYA DISEASE 2 		0.600 GeneticVariation CLINVAR RNF213 rare variants in an ethnically diverse population with Moyamoya disease. 25278557

2014
Entrez Id: 57674
Gene Symbol: RNF213
RNF213
CUI: C1846689
Disease: MOYAMOYA DISEASE 2
MOYAMOYA DISEASE 2 		0.600 SusceptibilityMutation CLINVAR

Entrez Id: 57674
Gene Symbol: RNF213
RNF213
CUI: C1846689
Disease: MOYAMOYA DISEASE 2
MOYAMOYA DISEASE 2 		0.600 CausalMutation CLINVAR

Entrez Id: 57674
Gene Symbol: RNF213
RNF213
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.500 GeneticVariation GWASCAT Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study. 29273593

2018
Entrez Id: 57674
Gene Symbol: RNF213
RNF213
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1 		0.500 GeneticVariation GWASCAT Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study. 29273593

2018
Entrez Id: 57674
Gene Symbol: RNF213
RNF213
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.500 GeneticVariation GWASCAT Mutational analysis of RNF213 revealed a founder mutation, p.R4859K, in 95% of MMD families, 73% of non-familial MMD cases and 1.4% of controls; this mutation greatly increases the risk of MMD (P = 1.2 × 10(-43), odds ratio = 190.8, 95% confidence interval = 71.7-507.9). 21048783

2011
Entrez Id: 57674
Gene Symbol: RNF213
RNF213
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.500 GeneticVariation GWASDB Mutational analysis of RNF213 revealed a founder mutation, p.R4859K, in 95% of MMD families, 73% of non-familial MMD cases and 1.4% of controls; this mutation greatly increases the risk of MMD (P = 1.2 × 10(-43), odds ratio = 190.8, 95% confidence interval = 71.7-507.9). 21048783

2011
Entrez Id: 57674
Gene Symbol: RNF213
RNF213
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1 		0.500 GeneticVariation GWASCAT Mutational analysis of RNF213 revealed a founder mutation, p.R4859K, in 95% of MMD families, 73% of non-familial MMD cases and 1.4% of controls; this mutation greatly increases the risk of MMD (P = 1.2 × 10(-43), odds ratio = 190.8, 95% confidence interval = 71.7-507.9). 21048783

2011
Entrez Id: 57674
Gene Symbol: RNF213
RNF213
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		0.100 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965

2016
Entrez Id: 57674
Gene Symbol: RNF213
RNF213
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		0.100 GeneticVariation GWASCAT Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine. 27322543

2016
Entrez Id: 57674
Gene Symbol: RNF213
RNF213
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker HPO

Entrez Id: 57674
Gene Symbol: RNF213
RNF213
CUI: C0039446
Disease: Telangiectasis
Telangiectasis 		0.100 Biomarker HPO

Entrez Id: 57674
Gene Symbol: RNF213
RNF213
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		0.100 Biomarker HPO

Entrez Id: 57674
Gene Symbol: RNF213
RNF213
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		0.100 Biomarker HPO

Entrez Id: 57674
Gene Symbol: RNF213
RNF213
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker HPO

Entrez Id: 57674
Gene Symbol: RNF213
RNF213
CUI: C4022001
Disease: Abnormality of the cerebral vasculature
Abnormality of the cerebral vasculature 		0.100 Biomarker HPO