Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.050 GeneticVariation disease BEFREE Cognitive impairment is commonly associated with CACNA1A mutations. 31115040 2020
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.050 GeneticVariation disease BEFREE The identification of a CACNA1A mutation was significantly associated with BTU (p=0.03) and with cognitive dysfunction (p=0.01). 29926469 2018
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.050 Biomarker disease BEFREE Resting-state functional connectivity and cognitive dysfunction correlations in spinocerebelellar ataxia type 6 (SCA6). 28295805 2017
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.050 Biomarker disease BEFREE CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478 2015
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.050 GeneticVariation disease BEFREE A novel mutation in CACNA1A associated with hemiplegic migraine, cerebellar dysfunction and late-onset cognitive decline. 21035146 2011