GIGYF2, GRB10 interacting GYF protein 2, 26058

N. diseases: 54; N. variants: 28
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918542
rs121918542
Entrez Id: 3769;26058
Gene Symbol: KCNJ13;GIGYF2
KCNJ13;GIGYF2
CUI: C1860405
Disease:
Snowflake vitreoretinal degeneration 		0.810 GeneticVariation BEFREE A mutation in KCNJ13 resulting in an arginine-to-tryptophan change at residue 162 (R162W) of Kir7.1 was associated with snowflake vitreoretinal degeneration, an inherited autosomal-dominant disease characterized by vitreous degeneration and mild retinal degeneration. 23255580 2013
dbSNP: rs121918542
rs121918542
Entrez Id: 3769;26058
Gene Symbol: KCNJ13;GIGYF2
KCNJ13;GIGYF2
CUI: C1860405
Disease:
Snowflake vitreoretinal degeneration 		0.810 GeneticVariation UNIPROT Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration. 18179896 2008
dbSNP: rs121918542
rs121918542
Entrez Id: 3769;26058
Gene Symbol: KCNJ13;GIGYF2
KCNJ13;GIGYF2
CUI: C1860405
Disease:
Snowflake vitreoretinal degeneration 		A 0.810 CausalMutation CLINVAR
dbSNP: rs143607153
rs143607153
Entrez Id: 3769;26058
Gene Symbol: KCNJ13;GIGYF2
KCNJ13;GIGYF2
CUI: C3280062
Disease:
LEBER CONGENITAL AMAUROSIS 16 		0.800 GeneticVariation UNIPROT Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis. 21763485 2011
dbSNP: rs143607153
rs143607153
Entrez Id: 3769;26058
Gene Symbol: KCNJ13;GIGYF2
KCNJ13;GIGYF2
CUI: C3280062
Disease:
LEBER CONGENITAL AMAUROSIS 16 		G 0.800 CausalMutation CLINVAR
dbSNP: rs283477
rs283477
Entrez Id: 26058
Gene Symbol: GIGYF2
GIGYF2
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs6704768
rs6704768
Entrez Id: 26058
Gene Symbol: GIGYF2
GIGYF2
CUI: C0021704
Disease:
Intelligence 		0.700 GeneticVariation GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203 2019
dbSNP: rs6704768
rs6704768
Entrez Id: 26058
Gene Symbol: GIGYF2
GIGYF2
CUI: C0036341
Disease:
Schizophrenia 		0.700 GeneticVariation GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203 2019
dbSNP: rs79928194
rs79928194
Entrez Id: 26058
Gene Symbol: GIGYF2
GIGYF2
CUI: C0003469
Disease:
Anxiety Disorders 		C 0.700 GeneticVariation GWASCAT Genetic Variants Associated With Anxiety and Stress-Related Disorders: A Genome-Wide Association Study and Mouse-Model Study. 31116379 2019
dbSNP: rs1801251
rs1801251
Entrez Id: 3769;26058
Gene Symbol: KCNJ13;GIGYF2
KCNJ13;GIGYF2
CUI: C1956346
Disease:
Coronary Artery Disease 		A 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
dbSNP: rs4144797
rs4144797
Entrez Id: 26058
Gene Symbol: GIGYF2
GIGYF2
CUI: C0036341
Disease:
Schizophrenia 		0.700 GeneticVariation GWASCAT Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection. 29483656 2018
dbSNP: rs6704768
rs6704768
Entrez Id: 26058
Gene Symbol: GIGYF2
GIGYF2
CUI: C0596887
Disease:
mathematical ability 		A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs6704768
rs6704768
Entrez Id: 26058
Gene Symbol: GIGYF2
GIGYF2
CUI: C0036341
Disease:
Schizophrenia 		0.700 GeneticVariation 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
dbSNP: rs6704768
rs6704768
Entrez Id: 26058
Gene Symbol: GIGYF2
GIGYF2
CUI: C0008074
Disease:
Child Development Disorders, Pervasive 		0.700 GeneticVariation 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
dbSNP: rs769022021
rs769022021
Entrez Id: 26058
Gene Symbol: GIGYF2
GIGYF2
CUI: C4083045
Disease:
PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 GeneticVariation UNIPROT GIGYF2 mutation in late-onset Parkinson's disease with cognitive impairment. 26134514 2015
dbSNP: rs776898936
rs776898936
Entrez Id: 26058
Gene Symbol: GIGYF2
GIGYF2
CUI: C4083045
Disease:
PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 GeneticVariation UNIPROT GIGYF2 mutation in late-onset Parkinson's disease with cognitive impairment. 26134514 2015
dbSNP: rs6704768
rs6704768
Entrez Id: 26058
Gene Symbol: GIGYF2
GIGYF2
CUI: C0036341
Disease:
Schizophrenia 		G 0.700 GeneticVariation GWASCAT Biological insights from 108 schizophrenia-associated genetic loci. 25056061 2014
dbSNP: rs769022021
rs769022021
Entrez Id: 26058
Gene Symbol: GIGYF2
GIGYF2
CUI: C4083045
Disease:
PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 GeneticVariation UNIPROT Mutational screening and zebrafish functional analysis of GIGYF2 as a Parkinson-disease gene. 20060621 2011
dbSNP: rs776898936
rs776898936
Entrez Id: 26058
Gene Symbol: GIGYF2
GIGYF2
CUI: C4083045
Disease:
PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 GeneticVariation UNIPROT Mutational screening and zebrafish functional analysis of GIGYF2 as a Parkinson-disease gene. 20060621 2011
dbSNP: rs769022021
rs769022021
Entrez Id: 26058
Gene Symbol: GIGYF2
GIGYF2
CUI: C4083045
Disease:
PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 GeneticVariation UNIPROT Novel GIGYF2 gene variants in patients with Parkinson's disease in Chinese population. 20178831 2010
dbSNP: rs776898936
rs776898936
Entrez Id: 26058
Gene Symbol: GIGYF2
GIGYF2
CUI: C4083045
Disease:
PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 GeneticVariation UNIPROT Novel GIGYF2 gene variants in patients with Parkinson's disease in Chinese population. 20178831 2010
dbSNP: rs769022021
rs769022021
Entrez Id: 26058
Gene Symbol: GIGYF2
GIGYF2
CUI: C4083045
Disease:
PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 GeneticVariation UNIPROT Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease. 18358451 2008
dbSNP: rs776898936
rs776898936
Entrez Id: 26058
Gene Symbol: GIGYF2
GIGYF2
CUI: C4083045
Disease:
PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 GeneticVariation UNIPROT Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease. 18358451 2008
dbSNP: rs114013774
rs114013774
Entrez Id: 26058
Gene Symbol: GIGYF2
GIGYF2
CUI: C4083045
Disease:
PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 GeneticVariation UNIPROT
dbSNP: rs115735611
rs115735611
Entrez Id: 26058
Gene Symbol: GIGYF2
GIGYF2
CUI: C4083045
Disease:
PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		G 0.700 SusceptibilityMutation CLINVAR