PHACTR1, phosphatase and actin regulator 1, 221692

N. diseases: 59; N. variants: 28
Disease: Fibromuscular Dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0016052
Disease: Fibromuscular Dysplasia
Fibromuscular Dysplasia 		0.020 GeneticVariation disease BEFREE A variant in the PHACTR1 gene has been associated with FMD as well as cervical artery dissection and migraine, although less than 5% of cases of FMD are familial. 30285053 2019
CUI: C0016052
Disease: Fibromuscular Dysplasia
Fibromuscular Dysplasia 		0.020 Biomarker disease BEFREE Immunohistochemistry detected PHACTR1 in endothelium and smooth muscle cells of FMD and normal human carotids. 27792790 2016