MBD5, methyl-CpG binding domain protein 5, 55777

N. diseases: 120; N. variants: 31
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10928378
rs10928378
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs12105411
rs12105411
Entrez Id: 55777;105373673
Gene Symbol: MBD5;LOC105373673
MBD5;LOC105373673
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1234413
rs1234413
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
CUI: C0202239
Disease:
Uric acid measurement (procedure) 		T 0.700 GeneticVariation GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528 2019
dbSNP: rs1234423
rs1234423
Entrez Id: 55777;105373673
Gene Symbol: MBD5;LOC105373673
MBD5;LOC105373673
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1377454
rs1377454
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
CUI: C0200638
Disease:
Eosinophil count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1553518509
rs1553518509
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
CUI: C1510586
Disease:
Autism Spectrum Disorders 		T 0.700 CausalMutation CLINVAR Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations. 30763456 2019
dbSNP: rs12992412
rs12992412
Entrez Id: 55777;105373673
Gene Symbol: MBD5;LOC105373673
MBD5;LOC105373673
CUI: C0004238
Disease:
Atrial Fibrillation 		T 0.700 GeneticVariation GWASCAT Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
dbSNP: rs1553518509
rs1553518509
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND). 27514998 2016
dbSNP: rs1553518509
rs1553518509
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies. 26147564 2015
dbSNP: rs1553517991
rs1553517991
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
CUI: C1969562
Disease:
Mental Retardation, Autosomal Dominant 1 		A 0.700 CausalMutation CLINVAR Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities. 23587880 2014
dbSNP: rs1553518509
rs1553518509
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR If not Angelman, what is it? A review of Angelman-like syndromes. 24779060 2014
dbSNP: rs1553518509
rs1553518509
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder. 23632792 2014
dbSNP: rs1553518509
rs1553518509
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities. 23587880 2014
dbSNP: rs1015096
rs1015096
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
CUI: C0003868
Disease:
Arthritis, Gouty 		0.700 GeneticVariation GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
dbSNP: rs1015096
rs1015096
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
CUI: C0018099
Disease:
Gout 		0.700 GeneticVariation GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
dbSNP: rs13007770
rs13007770
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
CUI: C0003868
Disease:
Arthritis, Gouty 		0.700 GeneticVariation GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
dbSNP: rs13007770
rs13007770
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
CUI: C0018099
Disease:
Gout 		0.700 GeneticVariation GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
dbSNP: rs1553517991
rs1553517991
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
CUI: C1969562
Disease:
Mental Retardation, Autosomal Dominant 1 		A 0.700 CausalMutation CLINVAR Extended spectrum of MBD5 mutations in neurodevelopmental disorders. 23422940 2013
dbSNP: rs1553518509
rs1553518509
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
dbSNP: rs1553518509
rs1553518509
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Extended spectrum of MBD5 mutations in neurodevelopmental disorders. 23422940 2013
dbSNP: rs1553518509
rs1553518509
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886 2013
dbSNP: rs1975748
rs1975748
Entrez Id: 5000;55777
Gene Symbol: ORC4;MBD5
ORC4;MBD5
CUI: C0003868
Disease:
Arthritis, Gouty 		0.700 GeneticVariation GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
dbSNP: rs1975748
rs1975748
Entrez Id: 5000;55777
Gene Symbol: ORC4;MBD5
ORC4;MBD5
CUI: C0018099
Disease:
Gout 		0.700 GeneticVariation GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
dbSNP: rs2890915
rs2890915
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
CUI: C0018099
Disease:
Gout 		0.700 GeneticVariation GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
dbSNP: rs2890915
rs2890915
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
CUI: C0003868
Disease:
Arthritis, Gouty 		0.700 GeneticVariation GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013