MACROD2, mono-ADP ribosylhydrolase 2, 140733

N. diseases: 13; N. variants: 45
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398124654
rs398124654
Entrez Id: 23767;140733
Gene Symbol: FLRT3;MACROD2
FLRT3;MACROD2
CUI: C3808986
Disease:
HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA 		C 0.800 CausalMutation CLINVAR
dbSNP: rs398124651
rs398124651
Entrez Id: 23767;140733
Gene Symbol: FLRT3;MACROD2
FLRT3;MACROD2
CUI: C4016902
Disease:
HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO 		C 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs398124652
rs398124652
Entrez Id: 23767;140733
Gene Symbol: FLRT3;MACROD2
FLRT3;MACROD2
CUI: C4016902
Disease:
HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO 		A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs398124653
rs398124653
Entrez Id: 23767;140733
Gene Symbol: FLRT3;MACROD2
FLRT3;MACROD2
CUI: C4016902
Disease:
HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO 		T 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs6110278
rs6110278
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
CUI: C0200665
Disease:
Platelet mean volume determination (procedure) 		T 0.800 GeneticVariation GWASDB A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. 19820697 2009
dbSNP: rs6110278
rs6110278
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
CUI: C0200665
Disease:
Platelet mean volume determination (procedure) 		T 0.800 GeneticVariation GWASCAT A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. 19820697 2009
dbSNP: rs4141463
rs4141463
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
CUI: C0004352
Disease:
Autistic Disorder 		0.820 GeneticVariation GWASCAT A genome-wide scan for common alleles affecting risk for autism. 20663923 2010
dbSNP: rs4141463
rs4141463
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
CUI: C0004352
Disease:
Autistic Disorder 		0.820 GeneticVariation GWASDB A genome-wide scan for common alleles affecting risk for autism. 20663923 2010
dbSNP: rs200744
rs200744
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
CUI: C0524957
Disease:
Corneal Topography 		0.700 GeneticVariation GWASDB Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus. 22003120 2011
dbSNP: rs200752
rs200752
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
CUI: C0020538
Disease:
Hypertensive disease 		0.700 GeneticVariation GWASDB Two-marker association tests yield new disease associations for coronary artery disease and hypertension. 21626137 2011
dbSNP: rs200759
rs200759
Entrez Id: 140733;107985394
Gene Symbol: MACROD2;LOC107985394
MACROD2;LOC107985394
CUI: C0020538
Disease:
Hypertensive disease 		0.700 GeneticVariation GWASDB Two-marker association tests yield new disease associations for coronary artery disease and hypertension. 21626137 2011
dbSNP: rs14135
rs14135
Entrez Id: 140733;100379174
Gene Symbol: MACROD2;MACROD2-AS1
MACROD2;MACROD2-AS1
CUI: C0004352
Disease:
Autistic Disorder 		0.700 GeneticVariation GWASDB Individual common variants exert weak effects on the risk for autism spectrum disorders. 22843504 2012
dbSNP: rs1475531
rs1475531
Entrez Id: 140733;100379174
Gene Symbol: MACROD2;MACROD2-AS1
MACROD2;MACROD2-AS1
CUI: C0004352
Disease:
Autistic Disorder 		0.700 GeneticVariation GWASDB Individual common variants exert weak effects on the risk for autism spectrum disorders. 22843504 2012
dbSNP: rs6110458
rs6110458
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
CUI: C0004352
Disease:
Autistic Disorder 		0.700 GeneticVariation GWASDB Individual common variants exert weak effects on the risk for autism spectrum disorders. 22843504 2012
dbSNP: rs398124654
rs398124654
Entrez Id: 23767;140733
Gene Symbol: FLRT3;MACROD2
FLRT3;MACROD2
CUI: C3808986
Disease:
HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA 		0.800 GeneticVariation UNIPROT Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382 2013
dbSNP: rs398124651
rs398124651
Entrez Id: 23767;140733
Gene Symbol: FLRT3;MACROD2
FLRT3;MACROD2
CUI: C3808986
Disease:
HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382 2013
dbSNP: rs398124652
rs398124652
Entrez Id: 23767;140733
Gene Symbol: FLRT3;MACROD2
FLRT3;MACROD2
CUI: C3808986
Disease:
HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382 2013
dbSNP: rs398124653
rs398124653
Entrez Id: 23767;140733
Gene Symbol: FLRT3;MACROD2
FLRT3;MACROD2
CUI: C3808986
Disease:
HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382 2013
dbSNP: rs6079468
rs6079468
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
CUI: C0005586
Disease:
Bipolar Disorder 		0.700 GeneticVariation GWASDB Genome-wide association study meta-analysis of European and Asian-ancestry samples identifies three novel loci associated with bipolar disorder. 22182935 2013
dbSNP: rs175804
rs175804
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
CUI: C1305855
Disease:
Body mass index 		A 0.700 GeneticVariation 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
dbSNP: rs8123881
rs8123881
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
CUI: C1305855
Disease:
Body mass index 		G 0.700 GeneticVariation GWASCAT Genetic studies of body mass index yield new insights for obesity biology. 25673413 2015
dbSNP: rs6042935
rs6042935
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
CUI: C0201534
Disease:
Antiphospholipid antibodies measurement 		0.700 GeneticVariation GWASCAT Antiphospholipid antibodies in a large population-based cohort: genome-wide associations and effects on monocyte gene expression. 27098658 2016
dbSNP: rs10485775
rs10485775
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs11087114
rs11087114
Entrez Id: 140733;100379174
Gene Symbol: MACROD2;MACROD2-AS1
MACROD2;MACROD2-AS1
CUI: C0019693
Disease:
HIV Infections 		A 0.700 GeneticVariation GWASCAT Genome-wide admixture and association study of subclinical atherosclerosis in the Women's Interagency HIV Study (WIHS). 29206233 2017
dbSNP: rs11907538
rs11907538
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017