AAR2, AAR2 splicing factor, 25980

N. diseases: 13; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0406208
Disease: Suntan
Suntan 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure. 29739929 2018
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent 		0.100 GeneticVariation disease CLINVAR
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 GeneticVariation group CLINVAR
CUI: C0332573
Disease: Macule
Macule 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 GeneticVariation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 GeneticVariation disease CLINVAR
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus 		0.100 GeneticVariation phenotype CLINVAR
CUI: C4025708
Disease: Cerebellar malformation
Cerebellar malformation 		0.100 GeneticVariation disease CLINVAR
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		0.010 Biomarker disease BEFREE The absence of clearly pathogenic mutations in the candidate genes screened in our cohort suggests that EFTUD2, PRPF4, NHP2L1, and AAR2 are either not involved in adRP or are associated with the disease in rare instances, at least as observed in this study in patients of European and North American origin. 24959063 2014