Gene: CYFIP2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2 		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
Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2 		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
Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2 		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
Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2 		0.130 Biomarker disease HPO