ACTN1, actinin alpha 1, 87

N. diseases: 34; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554663
Disease: BLEEDING DISORDER, PLATELET-TYPE, 15
BLEEDING DISORDER, PLATELET-TYPE, 15 		0.700 GeneticVariation disease CLINVAR
CUI: C3554663
Disease: BLEEDING DISORDER, PLATELET-TYPE, 15
BLEEDING DISORDER, PLATELET-TYPE, 15 		0.700 CausalMutation disease CLINVAR
CUI: C3554663
Disease: BLEEDING DISORDER, PLATELET-TYPE, 15
BLEEDING DISORDER, PLATELET-TYPE, 15 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3554663
Disease: BLEEDING DISORDER, PLATELET-TYPE, 15
BLEEDING DISORDER, PLATELET-TYPE, 15 		0.700 Biomarker disease CTD_human
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.480 Biomarker disease GENOMICS_ENGLAND
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.480 Biomarker disease GENOMICS_ENGLAND
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.170 Biomarker phenotype HPO
CUI: C0221278
Disease: Anisocytosis
Anisocytosis 		0.100 Biomarker phenotype HPO
CUI: C1096367
Disease: Increased mean platelet volume
Increased mean platelet volume 		0.100 Biomarker phenotype HPO
CUI: C1739105
Disease: Platelet anisocytosis
Platelet anisocytosis 		0.100 Biomarker phenotype HPO
CUI: C2698117
Disease: Anisocyte Measurement
Anisocyte Measurement 		0.100 Biomarker phenotype HPO
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.010 AlteredExpression disease LHGDN The cytoskeletal proteins alpha-actinin, Ezrin, and talin are De-expressed in endometriosis and endometrioid carcinoma compared with normal uterine epithelium. 17525629 2007
CUI: C0206687
Disease: Carcinoma, Endometrioid
Carcinoma, Endometrioid 		0.010 AlteredExpression disease LHGDN The cytoskeletal proteins alpha-actinin, Ezrin, and talin are De-expressed in endometriosis and endometrioid carcinoma compared with normal uterine epithelium. 17525629 2007
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.010 Biomarker disease BEFREE Collectively, these findings suggest that alpha-actinin 1 and 4 are differentially regulated during the development and progression of astrocytomas because each of these isoforms uniquely contributes to distinct malignant properties of astrocytoma cells. 20156433 2010
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		0.010 Biomarker disease BEFREE Collectively, these findings suggest that alpha-actinin 1 and 4 are differentially regulated during the development and progression of astrocytomas because each of these isoforms uniquely contributes to distinct malignant properties of astrocytoma cells. 20156433 2010
CUI: C3554663
Disease: BLEEDING DISORDER, PLATELET-TYPE, 15
BLEEDING DISORDER, PLATELET-TYPE, 15 		0.700 GeneticVariation disease UNIPROT ACTN1 mutations cause congenital macrothrombocytopenia. 23434115 2013
CUI: C3554663
Disease: BLEEDING DISORDER, PLATELET-TYPE, 15
BLEEDING DISORDER, PLATELET-TYPE, 15 		0.700 GeneticVariation disease UNIPROT A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family. 24069336 2013
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.480 GeneticVariation disease BEFREE Individuals with ACTN1 variants presented with moderate macrothrombocytopenia with anisocytosis but were either asymptomatic or had only a modest bleeding tendency. 23434115 2013
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.480 GeneticVariation disease BEFREE Candidate gene analysis complemented by targeted next-generation sequencing identified a missense mutation (c.137GA; p.Arg46Gln) in the alpha-actinin 1 gene (ACTN1) that segregated with macrothrombocytopenia in this large pedigree. 24069336 2013
CUI: C4304021
Disease: Autosomal dominant macrothrombocytopenia
Autosomal dominant macrothrombocytopenia 		0.320 GermlineCausalMutation disease ORPHANET ACTN1 mutations cause congenital macrothrombocytopenia. 23434115 2013
CUI: C4304021
Disease: Autosomal dominant macrothrombocytopenia
Autosomal dominant macrothrombocytopenia 		0.320 GeneticVariation disease BEFREE A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family. 24069336 2013
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.170 GeneticVariation phenotype BEFREE In the last 5 years, nine new genes whose mutations are responsible for thrombocytopenia have been identified, and this also led to the recognition of several novel nosographic entities, such as thrombocytopenias deriving from mutations in CYCS, TUBB1, FLNA, ITGA2B/ITGB3, ANKRD26 and ACTN1. 23636669 2013
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.010 GeneticVariation group BEFREE Individuals with ACTN1 variants presented with moderate macrothrombocytopenia with anisocytosis but were either asymptomatic or had only a modest bleeding tendency. 23434115 2013
CUI: C1701940
Disease: Pneumonia, Ventilator-Associated
Pneumonia, Ventilator-Associated 		0.010 Biomarker disease BEFREE We identified and validated a limited proteomic signature that discriminated VAP(+) from VAP(-) patients comprised of three proteins: S100A8, lactotransferrin (LTF), and actinin 1 (ACTN1). 23505561 2013
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014