STAMBPL1, STAM binding protein like 1, 57559

N. diseases: 16; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.100 CausalMutation group CLINVAR
CUI: C1846837
Disease: Aortic Aneurysm, Familial Thoracic 2
Aortic Aneurysm, Familial Thoracic 2 		0.100 CausalMutation disease CLINVAR
CUI: C3279690
Disease: MOYAMOYA DISEASE 5
MOYAMOYA DISEASE 5 		0.100 CausalMutation disease CLINVAR
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		0.100 CausalMutation disease CLINVAR Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. 17994018 2007
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.100 CausalMutation disease CLINVAR Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. 17994018 2007
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		0.100 GeneticVariation disease CLINVAR Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. 19409525 2009
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		0.100 CausalMutation disease CLINVAR Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. 19409525 2009
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.100 GeneticVariation disease CLINVAR Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. 19409525 2009
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.100 CausalMutation disease CLINVAR Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. 19409525 2009
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		0.100 CausalMutation disease CLINVAR Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). 19639654 2009
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.100 GeneticVariation disease CLINVAR Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). 19639654 2009
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.100 GeneticVariation disease GWASDB Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study. 19654303 2009
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.100 GeneticVariation disease GWASCAT Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study. 19654303 2009
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.100 GeneticVariation disease GWASDB A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci. 20512145 2010
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		0.100 CausalMutation disease CLINVAR De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. 20734336 2010
CUI: C3151201
Disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME 		0.100 CausalMutation disease CLINVAR De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. 20734336 2010
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.100 CausalMutation disease CLINVAR De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. 20734336 2010
CUI: C3151201
Disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME 		0.100 CausalMutation disease CLINVAR Analysis of ACTA2 in European Moyamoya disease patients. 20970362 2011
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.100 CausalMutation disease CLINVAR Analysis of ACTA2 in European Moyamoya disease patients. 20970362 2011
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		0.100 CausalMutation disease CLINVAR Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2). 21212136 2011
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		0.100 GeneticVariation disease CLINVAR Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2). 21212136 2011
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		0.100 GeneticVariation disease CLINVAR Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections. 21248741 2011
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		0.100 CausalMutation disease CLINVAR Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections. 21248741 2011
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.100 CausalMutation disease CLINVAR Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections. 21248741 2011
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		0.100 CausalMutation disease CLINVAR Allele-specific effects of thoracic aortic aneurysm and dissection alpha-smooth muscle actin mutations on actin function. 21288906 2011