Gene: STAMBPL1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57559
Gene Symbol: STAMBPL1
STAMBPL1 		0.100 CausalMutation disease CLINVAR Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation. 22752479 2013
Entrez Id: 57559
Gene Symbol: STAMBPL1
STAMBPL1 		0.100 CausalMutation disease CLINVAR Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm. 22946110 2012
Entrez Id: 57559
Gene Symbol: STAMBPL1
STAMBPL1 		0.100 CausalMutation disease CLINVAR A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations. 22831780 2012
Entrez Id: 57559
Gene Symbol: STAMBPL1
STAMBPL1 		0.100 CausalMutation disease CLINVAR R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations. 22302747 2012
Entrez Id: 57559
Gene Symbol: STAMBPL1
STAMBPL1 		0.100 CausalMutation disease CLINVAR Analysis of ACTA2 in European Moyamoya disease patients. 20970362 2011
Entrez Id: 57559
Gene Symbol: STAMBPL1
STAMBPL1 		0.100 CausalMutation disease CLINVAR De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. 20734336 2010