Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 46 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4539851
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 46
MENTAL RETARDATION, AUTOSOMAL DOMINANT 46 		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
CUI: C4539851
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 46
MENTAL RETARDATION, AUTOSOMAL DOMINANT 46 		0.600 Biomarker disease GENOMICS_ENGLAND Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy. 28669405 2017
CUI: C4539851
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 46
MENTAL RETARDATION, AUTOSOMAL DOMINANT 46 		0.600 GeneticVariation disease UNIPROT Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy. 28669405 2017
CUI: C4539851
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 46
MENTAL RETARDATION, AUTOSOMAL DOMINANT 46 		0.600 CausalMutation disease CLINVAR