FRRS1L, ferric chelate reductase 1 like, 23732

N. diseases: 60; N. variants: 9
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310770
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 		0.600 Biomarker disease CTD_human
CUI: C4310770
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 		0.600 Biomarker disease GENOMICS_ENGLAND Epileptic encephalopathy with continuous spike-and-wave during sleep maps to a homozygous truncating mutation in AMPA receptor component FRRS1L. 27239025 2016
CUI: C4310770
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 		0.600 CausalMutation disease CLINVAR Epileptic encephalopathy with continuous spike-and-wave during sleep maps to a homozygous truncating mutation in AMPA receptor component FRRS1L. 27239025 2016
CUI: C4310770
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 		0.600 GeneticVariation disease CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917 2016
CUI: C4310770
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 		0.600 CausalMutation disease CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917 2016
CUI: C4310770
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 		0.600 Biomarker disease GENOMICS_ENGLAND Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach. 30914295 2019
CUI: C4310770
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 		0.600 CausalMutation disease CLINVAR Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability. 30525197 2019