Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.380 Biomarker disease BEFREE The CYFIP1 gene has been linked to autism and schizophrenia and, while there is a noted heterogeneity, both have been characterized to be disorders of connectivity. 31704178 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.380 Biomarker disease BEFREE The autism- and schizophrenia-associated protein CYFIP1 regulates bilateral brain connectivity and behaviour. 31371726 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.380 Biomarker disease BEFREE Autism and Schizophrenia-Associated CYFIP1 Regulates the Balance of Synaptic Excitation and Inhibition. 30784587 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.380 Biomarker disease BEFREE Cytoplasmic FMRP interacting protein 1 (<i>CYFIP1</i>) is a candidate gene for intellectual disability (ID), autism, schizophrenia and epilepsy. 28183735 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.380 Biomarker disease BEFREE Reduced CYFIP1 in Human Neural Progenitors Results in Dysregulation of Schizophrenia and Epilepsy Gene Networks. 26824476 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.380 Biomarker disease BEFREE Cytoplasmic FMR1-interacting protein 1 (CYFIP1) is of particular interest because of its interaction with Fragile X mental retardation protein (FMRP), its upregulation in transformed lymphoblastoid cell lines from patients with duplications at 15q11-13 and ASD and the presence of smaller overlapping deletions of CYFIP1 in patients with schizophrenia and intellectual disability. 25311365 2015
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.380 Biomarker disease PSYGENET Finally, targeted human genetic association analyses revealed an epistatic interaction between CYFIP1 and WAVE signaling mediator ACTR2 and risk for schizophrenia. 24996170 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.380 Biomarker disease BEFREE Finally, targeted human genetic association analyses revealed an epistatic interaction between CYFIP1 and WAVE signaling mediator ACTR2 and risk for schizophrenia. 24996170 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.380 GeneticVariation disease BEFREE We also found SNP rs1009153 in CYFIP1 was associated with schizophrenia (OR=0.82, 95% CI=0.73-0.93, allelic P=.044 after permutation). 22317777 2013
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		0.200 Biomarker disease RGD Thus, our results indicate that CYFIP1 may be involved in the pathogenesis of TLE. 26000921 2016
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.090 Biomarker disease BEFREE The autism- and schizophrenia-associated protein CYFIP1 regulates bilateral brain connectivity and behaviour. 31371726 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.090 GeneticVariation disease BEFREE Copy number variations in CYFIP1 are associated with autism, schizophrenia, and intellectual disability, but its role in regulating synaptic inhibition or E/I balance remains unclear. 30784587 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.090 Biomarker disease BEFREE The CYFIP1 gene has been linked to autism and schizophrenia and, while there is a noted heterogeneity, both have been characterized to be disorders of connectivity. 31704178 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.090 AlteredExpression disease BEFREE Cytoplasmic FMRP interacting protein 1/2 (CYFIP1/2) expression analysis in autism. 29752658 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.090 Biomarker disease BEFREE Cytoplasmic FMRP interacting protein 1 (<i>CYFIP1</i>) is a candidate gene for intellectual disability (ID), autism, schizophrenia and epilepsy. 28183735 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.090 GeneticVariation disease BEFREE Genes with differentially expressed exons included CYFIP1, a previously reported autism susceptibility gene. 23838881 2014
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.090 GeneticVariation disease BEFREE We identify FAM120C as a novel X-linked candidate gene for autism for two reasons: first, a larger deletion encompassing FAM120C segregates with autism in a previously reported family and second, there is recent evidence that FAM120C interacts with CYFIP1, part of the FMRP (Fragile X Mental Retardation Protein) network. 25258334 2014
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.090 Biomarker disease BEFREE These findings point towards a contribution of microduplications at chromosome 15q11.2 to autism, and highlight CYFIP1 and NIPA1 as autism risk genes functioning in axonogenesis and synaptogenesis. 20029941 2010
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.090 Biomarker disease BEFREE There are four known genes (NIPA1, NIPA2, CYFIP1, & GCP5) that are affected by class I but not class II deletions, thus raising the possibility of a role for these genes in autism as well as the development of expressive language skills. 16183798 2006
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.080 Biomarker disease BEFREE CYFIP1, a protein that interacts with FMRP and regulates protein synthesis and actin dynamics, is overexpressed in Dup15q syndrome as well as autism spectrum disorder (ASD). 31198525 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.080 Biomarker disease BEFREE Overall, a synaptic pathway centered around FMR1, CYFIP1, and NLG3 is likely to contribute to the phenotypes associated with structural and physiological plasticity characteristic of ASD. 31705895 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.080 GeneticVariation disease BEFREE Altogether, these data provide new insight into the neuronal and behavioral phenotypes caused by Cyfip1 mutation and proof-of-concept for the development of a behavioral therapy to treat phenotypes associated with 15q11.2 syndromes and ASD. 30664619 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.080 Biomarker disease BEFREE We find that Cyfip1-heterozygous mice have reduced functional connectivity and defects in white matter architecture, similar to phenotypes found in patients with ASD, SCZ and other neuropsychiatric disorders. 31371726 2019