ARVCF, ARVCF delta catenin family member, 421

N. diseases: 151; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.460 Biomarker disease BEFREE Three of these loci (MTHFR, DAOA, ARVCF) had never been implicated by a schizophrenia GWA study. 31455759 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.460 GeneticVariation disease BEFREE Carriage of the minor allele at rs2518824 in the armadillo repeat gene deleted in velocardiofacial syndrome (ARVCF) gene, which has been linked to neuronal migration and schizophrenia, and rs174576 in the fatty acid desaturase 2 gene, which encodes a rate-limiting enzyme for endogenous long chain polyunsaturated fatty acid synthesis and has been linked to intelligence, was associated with white matter abnormality measured in vivo using diffusion tensor imaging (P = .0009 and P = .0019, respectively). 24819575 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.460 GeneticVariation disease BEFREE We hypothesized that ARVCF gene haplotypes influence caudate nucleus volume, fractional anisotropy, and neurocognitive functioning in schizophrenia. 22053977 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.460 Biomarker disease PSYGENET We hypothesized that ARVCF gene haplotypes influence caudate nucleus volume, fractional anisotropy, and neurocognitive functioning in schizophrenia. 22053977 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.460 Biomarker disease PSYGENET The functional variant rs165815, which affects a critical region of ARVCF, is a considerable source of the genetic variability associated with the risk of developing schizophrenia. 20333729 2010
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.460 GeneticVariation disease BEFREE The functional variant rs165815, which affects a critical region of ARVCF, is a considerable source of the genetic variability associated with the risk of developing schizophrenia. 20333729 2010
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.460 Biomarker disease PSYGENET Our results will assist in the interpretation of the controversy generated by genetic associations of COMT and schizophrenia, which could be the result of different LD patterns between COMT markers and the 3' region of the ARVCF gene. 19508883 2009
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.460 GeneticVariation disease BEFREE The genetic region including the ARVCF gene in the 22q11.21 chromosome is associated with schizophrenia in a Spanish series. 19508883 2009
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.460 GeneticVariation disease BEFREE Either the ARVCF gene itself or a nearby locus may confer susceptibility to schizophrenia in a Chinese Han population. 15861775 2005
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.460 Biomarker disease PSYGENET Either the ARVCF gene itself or a nearby locus may confer susceptibility to schizophrenia in a Chinese Han population. 15861775 2005
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.460 Biomarker disease HPO
CUI: C0809983
Disease: Schizophrenia and related disorders
Schizophrenia and related disorders 		0.310 Biomarker group PSYGENET Three dbSNPs (rs35219372, rs5993890, and rs165815) were identified when the nine exons of ARVCF were resequenced. rs165815 was associated with schizophrenia and related disorders (homozygote CC OR = 3.39, permutated P value = 0.02). 20333729 2010
CUI: C0809983
Disease: Schizophrenia and related disorders
Schizophrenia and related disorders 		0.310 GeneticVariation group BEFREE Three dbSNPs (rs35219372, rs5993890, and rs165815) were identified when the nine exons of ARVCF were resequenced. rs165815 was associated with schizophrenia and related disorders (homozygote CC OR = 3.39, permutated P value = 0.02). 20333729 2010
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.300 Biomarker disease GENOMICS_ENGLAND Exome-Wide Association Study Identified New Risk Loci for Hirschsprung's Disease. 26887379 2017
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.300 ChromosomalRearrangement disease ORPHANET
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.300 ChromosomalRearrangement disease ORPHANET
CUI: C0431406
Disease: Asymmetric crying face association
Asymmetric crying face association 		0.300 ChromosomalRearrangement disease ORPHANET
CUI: C0795907
Disease: CONOTRUNCAL ANOMALY FACE SYNDROME
CONOTRUNCAL ANOMALY FACE SYNDROME 		0.300 ChromosomalRearrangement disease ORPHANET
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.300 ChromosomalRearrangement disease ORPHANET
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		0.300 ChromosomalRearrangement disease ORPHANET
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
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