rs878853282, FRRS1L

N. diseases: 4
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
CUI: C4310770
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
0.700 GeneticVariation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
CUI: C4310770
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
0.700 CausalMutation CLINVAR