MACROD2, mono-ADP ribosylhydrolase 2, 140733

N. diseases: 57; N. variants: 47
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1314691
Disease: Age at menarche
Age at menarche 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C4721579
Disease: Secondary malignant neoplasm of colon and/or rectum
Secondary malignant neoplasm of colon and/or rectum 		0.100 GeneticVariation disease GWASCAT A genome-wide association study identifies single nucleotide polymorphisms associated with time-to-metastasis in colorectal cancer. 30738427 2019
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 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: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
CUI: C0019693
Disease: HIV Infections
HIV Infections 		0.100 GeneticVariation group GWASCAT Genome-wide admixture and association study of subclinical atherosclerosis in the Women's Interagency HIV Study (WIHS). 29206233 2017
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C0149678
Disease: Epstein-Barr Virus Infections
Epstein-Barr Virus Infections 		0.100 GeneticVariation group GWASCAT Genetic factors affecting EBV copy number in lymphoblastoid cell lines derived from the 1000 Genome Project samples. 28654678 2017
CUI: C0562350
Disease: Hip circumference
Hip circumference 		0.100 GeneticVariation phenotype GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196 2017
CUI: C2697758
Disease: Interleukin 10 Measurement
Interleukin 10 Measurement 		0.100 GeneticVariation phenotype GWASCAT Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. 27989323 2017
CUI: C0201534
Disease: Antiphospholipid antibodies measurement
Antiphospholipid antibodies measurement 		0.100 GeneticVariation phenotype GWASCAT Antiphospholipid antibodies in a large population-based cohort: genome-wide associations and effects on monocyte gene expression. 27098658 2016
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. 26426971 2015
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Genetic studies of body mass index yield new insights for obesity biology. 25673413 2015
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.100 GeneticVariation disease GWASDB Genome-wide association study meta-analysis of European and Asian-ancestry samples identifies three novel loci associated with bipolar disorder. 22182935 2013
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.100 GeneticVariation group GWASDB Two-marker association tests yield new disease associations for coronary artery disease and hypertension. 21626137 2011
CUI: C0524957
Disease: Corneal Topography
Corneal Topography 		0.100 GeneticVariation phenotype GWASDB Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus. 22003120 2011
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.100 GeneticVariation phenotype GWASDB A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. 19820697 2009
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.100 GeneticVariation phenotype GWASCAT A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. 19820697 2009
CUI: C3808986
Disease: HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA 		0.100 CausalMutation disease CLINVAR
CUI: C4016902
Disease: HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO
HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO 		0.100 SusceptibilityMutation phenotype CLINVAR
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.020 GeneticVariation disease BEFREE Although rs4141463 lies within an intron of the protein-coding <i>MACROD2</i> (MACRO domain containing 2) gene, expression of <i>MACROD2</i> is neither altered in postmortem temporal cortex of individuals with ASD nor correlated with rs4141463 genotype. 31681417 2019
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.020 Biomarker disease BEFREE Disruption in the gene encoding for MACROD2, a mono-ADP-ribosylhydrolase, has been associated to the Kabuki syndrome, a pediatric congenital disorder characterized by facial anomalies, and mental retardation. 30619475 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.020 GeneticVariation disease BEFREE No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder. 21656903 2011