Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4693925
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65 		0.600 GeneticVariation disease CLINVAR De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy. 29534297 2018
CUI: C4693925
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65 		0.600 Biomarker disease GENOMICS_ENGLAND Novel West syndrome candidate genes in a Chinese cohort. 29667327 2018
CUI: C4693925
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65 		0.600 Biomarker disease GENOMICS_ENGLAND Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. 30664714 2019
CUI: C4693925
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65 		0.600 CausalMutation disease CLINVAR
CUI: C4693925
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65 		0.600 GeneticVariation disease UNIPROT De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy. 29534297 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.130 GeneticVariation disease BEFREE Recent whole exome sequencing studies identified <i>de novo</i> hotspot variants in <i>CYFIP2</i> from patients with early-onset epileptic encephalopathy and microcephaly, suggesting that CYFIP2 may have some functions in embryonic brain development. 30687000 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.130 GeneticVariation disease BEFREE We identified three de novo CYFIP2 variants at the Arg87 residue in 4 unrelated individuals with early-onset epileptic encephalopathy. 29534297 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.130 Biomarker disease HPO
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.130 GeneticVariation disease BEFREE Recently, de novo variants affecting the amino acid p.Arg87 of CYFIP2 were reported in four individuals with epileptic encephalopathy. 30664714 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.110 Biomarker disease HPO
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.110 Biomarker disease BEFREE CYFIP2, encoding the evolutionary highly conserved cytoplasmic FMRP interacting protein 2, has previously been proposed as a candidate gene for intellectual disability and autism because of its important role linking FMRP-dependent transcription regulation and actin polymerization via the WAVE regulatory complex (WRC). 30664714 2019
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.110 GeneticVariation disease BEFREE This study evidenced a variety of de novo variants in CYFIP2 as a novel cause of mostly severe intellectual disability with seizures and muscular hypotonia. 30664714 2019
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.110 CausalMutation disease CLINVAR
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.100 Biomarker disease HPO
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.100 Biomarker disease HPO
CUI: C0033377
Disease: Ptosis
Ptosis 		0.100 Biomarker disease HPO
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		0.100 Biomarker disease HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 Biomarker disease HPO