FGF12, fibroblast growth factor 12, 2257

N. diseases: 95; N. variants: 20
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310685
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 		0.700 GeneticVariation disease CLINVAR De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy. 27872899 2016
CUI: C4310685
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 		0.700 Biomarker disease GENOMICS_ENGLAND De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy. 27872899 2016
CUI: C4310685
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 		0.700 GeneticVariation disease UNIPROT Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy. 27164707 2016
CUI: C4310685
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 		0.700 Biomarker disease GENOMICS_ENGLAND De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy. 27872899 2016
CUI: C4310685
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 		0.700 Biomarker disease GENOMICS_ENGLAND FHF1 (FGF12) epileptic encephalopathy. 27830185 2016
CUI: C4310685
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 		0.700 CausalMutation disease CLINVAR
CUI: C4310685
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 		0.700 Biomarker disease CTD_human