Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
0.110 GeneticVariation GWASCAT Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study. 29273593

2018

Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
0.100 GeneticVariation GWASCAT Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study. 29273593

2018

Entrez Id: 79092
Gene Symbol: CARD14
CARD14
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
0.100 GeneticVariation GWASCAT Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study. 29273593

2018

Entrez Id: 6948
Gene Symbol: TCN2
TCN2
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
0.100 GeneticVariation GWASCAT Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study. 29273593

2018

Entrez Id: 57521
Gene Symbol: RPTOR
RPTOR
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
0.100 GeneticVariation GWASCAT Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study. 29273593

2018

Entrez Id: 81846
Gene Symbol: SBF2
SBF2
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
0.100 GeneticVariation GWASCAT Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study. 29273593

2018

Entrez Id: 23348
Gene Symbol: DOCK9
DOCK9
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
0.100 GeneticVariation GWASCAT Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study. 29273593

2018

Entrez Id: 27293
Gene Symbol: SMPDL3B
SMPDL3B
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
0.100 GeneticVariation GWASCAT Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study. 29273593

2018

Entrez Id: 26260
Gene Symbol: FBXO25
FBXO25
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
0.100 GeneticVariation GWASCAT Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study. 29273593

2018

Entrez Id: 57486
Gene Symbol: NLN
NLN
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
0.100 GeneticVariation GWASCAT Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study. 29273593

2018

Entrez Id: 11069
Gene Symbol: RAPGEF4
RAPGEF4
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
0.100 GeneticVariation GWASCAT Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study. 29273593

2018

Entrez Id: 4035
Gene Symbol: LRP1
LRP1
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
0.100 GeneticVariation GWASCAT Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study. 29273593

2018

Entrez Id: 9819
Gene Symbol: TSC22D2
TSC22D2
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
0.100 GeneticVariation GWASCAT Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study. 29273593

2018

Entrez Id: 10428
Gene Symbol: CFDP1
CFDP1
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
0.100 GeneticVariation GWASCAT Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study. 29273593

2018

Entrez Id: 9863
Gene Symbol: MAGI2
MAGI2
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
0.100 GeneticVariation GWASCAT Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study. 29273593

2018

Entrez Id: 745
Gene Symbol: MYRF
MYRF
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
0.100 GeneticVariation GWASCAT Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study. 29273593

2018

Entrez Id: 221895
Gene Symbol: JAZF1
JAZF1
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
0.100 GeneticVariation GWASCAT Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study. 29273593

2018

Entrez Id: 100294362
Gene Symbol: RNF213-AS1
RNF213-AS1
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
0.100 GeneticVariation GWASCAT A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. 21048783

2011