TRAK1, trafficking kinesin protein 1, 22906

N. diseases: 66; N. variants: 10
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748688
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 		0.600 GeneticVariation disease UNIPROT Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus. 29846532 2018
CUI: C4748688
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 		0.600 GeneticVariation disease UNIPROT Expanding the genetic heterogeneity of intellectual disability. 28940097 2017
CUI: C4748688
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 		0.600 Biomarker disease GENOMICS_ENGLAND Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy. 28364549 2017
CUI: C4748688
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 		0.600 GeneticVariation disease UNIPROT Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy. 28364549 2017
CUI: C4748688
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 		0.600 CausalMutation disease CLINVAR