Disease: Muscle hypotonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes. 24738973 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Neuropsychological and neuroimaging phenotype induced by a CAMTA1 mutation. 24145135 2014
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Ataxia and Purkinje cell degeneration in mice lacking the CAMTA1 transcription factor. 25049392 2014
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability. 22693284 2012
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders. 22031302 2011
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR A potential dimerization region of dCAMTA is critical for termination of fly visual response. 17537720 2007
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance. 17470457 2007
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR The transcriptional coactivator CAMTA2 stimulates cardiac growth by opposing class II histone deacetylases. 16678093 2006