Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 GeneticVariation group BEFREE This evidence strongly supports the hypothesis of KCNQ5 haploinsufficiency, which could lead to altered neuronal excitability, thus contributing to seizure susceptibility and intellectual disability. 30359776 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 GeneticVariation group BEFREE Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy. 28669405 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 Biomarker group GENOMICS_ENGLAND Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy. 28669405 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 Biomarker group HPO