×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Nemaline myopathy with dilated cardiomyopathy in childhood.
23650303
2013
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
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
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Review of Cardiac Disease in Nemaline Myopathy.
26507755
2015
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
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
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
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
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
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Review of Cardiac Disease in Nemaline Myopathy.
26507755
2015
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
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
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
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Nemaline myopathy with dilated cardiomyopathy in childhood.
23650303
2013
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
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
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
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
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
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
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
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
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
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
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
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
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
A genome sequencing program for novel undiagnosed diseases.
25790160
2015
×
Entrez Id:
111
Gene Symbol:
ADCY5
ADCY5
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
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
4-Phenylbutyrate attenuates the ER stress response and cyclic AMP accumulation in DYT1 dystonia cell models.
25379658
2014