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 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 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 GeneticVariation disease UNIPROT 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 CausalMutation disease CLINVAR
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: 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: 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: C0036572
Disease: Seizures
Seizures 		0.110 GeneticVariation phenotype 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 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 GeneticVariation group BEFREE Using trio whole-exome or -genome sequencing, we identified 12 independent patients carrying a total of eight distinct de novo variants in CYFIP2 with a shared phenotype of intellectual disability, seizures, and muscular hypotonia. 30664714 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.110 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.110 CausalMutation phenotype CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.110 CausalMutation disease CLINVAR
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group HPO
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1314691
Disease: Age at menarche
Age at menarche 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
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