Disease: Moyamoya Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.040 GeneticVariation disease BEFREE Mutations in GUCY1A3 have been recently linked to a recessive syndromic form of moyamoya with esophageal achalasia. 30001348 2018
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.040 GeneticVariation disease BEFREE The authors conducted a genetic study of really interesting new gene (RING) finger protein 213 ( RNF213); actin alpha 2 ( ACTA2); BRCA1/BRCA2-containing complex subunit 3 ( BRCC3); and guanylate cyclase 1, soluble, alpha 3 ( GUCY1A3) as well as a clinical phenotype analysis in Chinese MMD patients to determine whether genetic differences are responsible for the different clinical features that appear in MMD in different ethnicities. 27128593 2017
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.040 GeneticVariation disease BEFREE Homozygous mutations in GUCY1A3 have been reported as a cause of MMD and achalasia. 26777256 2016
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.040 Biomarker disease BEFREE These data provide treatment options for affected individuals and strongly suggest that investigation of GUCY1A3 and other members of the NO-sGC-cGMP pathway is warranted in both isolated early-onset achalasia and nonsyndromic moyamoya. 24581742 2014