Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Nemaline myopathy with dilated cardiomyopathy in childhood. 23650303

2013
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Variable presentation of nemaline myopathy: novel mutation of alpha actin gene. 16967490

2007
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Review of Cardiac Disease in Nemaline Myopathy. 26507755

2015
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene. 11333380

2001
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature. 25890230

2015
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. 15236405

2004
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). 19562689

2009
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Review of Cardiac Disease in Nemaline Myopathy. 26507755

2015
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Variable presentation of nemaline myopathy: novel mutation of alpha actin gene. 16967490

2007
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Actin mutations are one cause of congenital fibre type disproportion. 15468086

2004
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Nemaline myopathy with dilated cardiomyopathy in childhood. 23650303

2013
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Clinical course correlates poorly with muscle pathology in nemaline myopathy. 12601110

2003
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene. 11333380

2001
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). 19562689

2009
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature. 25890230

2015
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Clinical course correlates poorly with muscle pathology in nemaline myopathy. 12601110

2003
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Actin mutations are one cause of congenital fibre type disproportion. 15468086

2004
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. 15236405

2004
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR D1- and D2-like dopamine receptors are co-localized on the presynaptic varicosities of striatal and nucleus accumbens neurons in vitro. 10051231

1999
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Impaired D2 dopamine receptor function in mice lacking type 5 adenylyl cyclase. 12223546

2002
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Gα(olf) mutation allows parsing the role of cAMP-dependent and extracellular signal-regulated kinase-dependent signaling in L-3,4-dihydroxyphenylalanine-induced dyskinesia. 22539851

2012
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Characterization of the human adenylyl cyclase gene family: cDNA, gene structure, and tissue distribution of the nine isoforms. 12503609

2003
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR A genome sequencing program for novel undiagnosed diseases. 25790160

2015
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Cloning and expression of an adenylyl cyclase localized to the corpus striatum. 8429907

1993
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR 4-Phenylbutyrate attenuates the ER stress response and cyclic AMP accumulation in DYT1 dystonia cell models. 25379658

2014