FGF12, fibroblast growth factor 12, 2257

N. diseases: 95; N. variants: 20
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
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 GeneticVariation disease BEFREE Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation. 29699863 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		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
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 Biomarker disease GENOMICS_ENGLAND De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy. 27872899 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 GeneticVariation disease BEFREE Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy. 27164707 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 Biomarker disease GENOMICS_ENGLAND
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 Biomarker disease HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.300 Biomarker phenotype CTD_human Discriminating between adaptive and carcinogenic liver hypertrophy in rat studies using logistic ridge regression analysis of toxicogenomic data: The mode of action and predictive models. 28108177 2017
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.110 Biomarker disease BEFREE Our data demonstrate that gain-of-function FHF mutations can cause neurologic disorder, and expand the repertoire of genetic causes (FHF1) and mechanisms (altered Nav gating) underlying EOEE and cerebellar atrophy. 27164707 2016
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.110 Biomarker disease HPO
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.100 GeneticVariation phenotype GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation phenotype CLINVAR De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy. 27872899 2016
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 GeneticVariation phenotype CLINVAR De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy. 27872899 2016
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.100 GeneticVariation disease CLINVAR De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy. 27872899 2016
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.100 GeneticVariation phenotype GWASCAT A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. 26634245 2015
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.100 GeneticVariation phenotype GWASCAT Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum. 19043545 2008
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.100 GeneticVariation phenotype GWASDB Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum. 19043545 2008
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO