Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2257
Gene Symbol: FGF12
FGF12
0.430 GeneticVariation disease BEFREE Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation. 29699863 2018
Entrez Id: 2257
Gene Symbol: FGF12
FGF12
0.430 GeneticVariation disease BEFREE Using whole exome sequencing we found a de novo heterozygous, missense mutation of FHF1 (p.Arg52His, NM_004113), a mutation that has been very recently described in 7 patients with an early onset epileptic encephalopathy. 28506426 2017
Entrez Id: 2257
Gene Symbol: FGF12
FGF12
0.430 Biomarker disease GENOMICS_ENGLAND De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy. 27872899 2016
Entrez Id: 2257
Gene Symbol: FGF12
FGF12
0.430 GeneticVariation disease BEFREE Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy. 27164707 2016
Entrez Id: 2257
Gene Symbol: FGF12
FGF12
0.430 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 2257
Gene Symbol: FGF12
FGF12
0.430 Biomarker disease HPO