GIGYF2, GRB10 interacting GYF protein 2, 26058

N. diseases: 54; N. variants: 28
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4083045
Disease: PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 GeneticVariation phenotype UNIPROT GIGYF2 mutation in late-onset Parkinson's disease with cognitive impairment. 26134514 2015
CUI: C4083045
Disease: PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 Biomarker phenotype GENOMICS_ENGLAND Mutational screening and zebrafish functional analysis of GIGYF2 as a Parkinson-disease gene. 20060621 2011
CUI: C4083045
Disease: PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 GeneticVariation phenotype UNIPROT Mutational screening and zebrafish functional analysis of GIGYF2 as a Parkinson-disease gene. 20060621 2011
CUI: C4083045
Disease: PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 GeneticVariation phenotype UNIPROT Novel GIGYF2 gene variants in patients with Parkinson's disease in Chinese population. 20178831 2010
CUI: C4083045
Disease: PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 Biomarker phenotype GENOMICS_ENGLAND GIGYF2 mutations are not a frequent cause of familial Parkinson's disease. 19482505 2009
CUI: C4083045
Disease: PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 GeneticVariation phenotype UNIPROT Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease. 18358451 2008
CUI: C4083045
Disease: PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 Biomarker phenotype GENOMICS_ENGLAND Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease. 18358451 2008
CUI: C4083045
Disease: PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 GeneticVariation phenotype CLINVAR
CUI: C4083045
Disease: PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 Biomarker phenotype CTD_human
CUI: C4083045
Disease: PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 SusceptibilityMutation phenotype CLINVAR
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.300 Biomarker group CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.110 GeneticVariation disease GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.110 GeneticVariation disease BEFREE We identified 6 new loci associated with CAD at genome-wide significance: on 2q37 (KCNJ13-GIGYF2), 6p21 (C2), 11p15 (MRVI1-CTR9), 12q13 (LRP1), 12q24 (SCARB1), and 16q13 (CETP). 28209224 2017
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		0.110 Biomarker phenotype BEFREE Imaging techniques ((18)F-DOPA PET, (123)I-beta-CIT SPECT, MIBG scintigraphy, functional imaging), clinical tests (e.g. hyposmia, micrography, hyperechogenicity, apomorphine test), biochemical markers (e.g. alpha-synuclein and neuromelanin antibodies, oxidative and mitochondrial markers) and genetic tests for hereditary forms (PARK1 to PARK11) are evaluated for their suitability. 18322371 2008
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		0.110 Biomarker phenotype HPO
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.100 GeneticVariation group GWASCAT Genetic Variants Associated With Anxiety and Stress-Related Disorders: A Genome-Wide Association Study and Mouse-Model Study. 31116379 2019
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 GeneticVariation disease GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 GeneticVariation disease GWASCAT Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection. 29483656 2018
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: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.100 GeneticVariation group GWASCAT Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. 28540026 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE These results indicate that the GIGYF2 indel may be associated with increased risk of PD in northern China. 28873462 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 GeneticVariation disease GWASCAT Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. 28540026 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 Biomarker disease BEFREE Although further research is still required, this finding may shed light on the GIGYF2-associated mechanisms that lead to PD and suggests insulin dysregulation as a disease-specific mechanism for both PD and cognitive dysfunction. 26134514 2015