Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 56479
Gene Symbol: KCNQ5
KCNQ5 		0.600 Biomarker disease GENOMICS_ENGLAND Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability. 30359776 2019
Entrez Id: 56479
Gene Symbol: KCNQ5
KCNQ5 		0.600 Biomarker disease GENOMICS_ENGLAND Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy. 28669405 2017
Entrez Id: 56479
Gene Symbol: KCNQ5
KCNQ5 		0.600 GeneticVariation disease UNIPROT Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy. 28669405 2017
Entrez Id: 56479
Gene Symbol: KCNQ5
KCNQ5 		0.600 CausalMutation disease CLINVAR