WDR83, WD repeat domain 83, 84292

N. diseases: 8; N. variants: 23
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864621977
rs864621977
Entrez Id: 4125;84292
Gene Symbol: MAN2B1;WDR83
MAN2B1;WDR83
CUI: C0024748
Disease:
alpha-Mannosidosis 		C 0.800 GeneticVariation CLINVAR amamutdb.no: A relational database for MAN2B1 allelic variants that compiles genotypes, clinical phenotypes, and biochemical and structural data of mutant MAN2B1 in α-mannosidosis. 25762455 2015
dbSNP: rs387906261
rs387906261
Entrez Id: 4125;84292
Gene Symbol: MAN2B1;WDR83
MAN2B1;WDR83
CUI: C0024748
Disease:
alpha-Mannosidosis 		0.800 GeneticVariation UNIPROT Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations. 22161967 2012
dbSNP: rs864621977
rs864621977
Entrez Id: 4125;84292
Gene Symbol: MAN2B1;WDR83
MAN2B1;WDR83
CUI: C0024748
Disease:
alpha-Mannosidosis 		0.800 GeneticVariation UNIPROT Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations. 22161967 2012
dbSNP: rs864621977
rs864621977
Entrez Id: 4125;84292
Gene Symbol: MAN2B1;WDR83
MAN2B1;WDR83
CUI: C0024748
Disease:
alpha-Mannosidosis 		C 0.800 GeneticVariation CLINVAR Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations. 22161967 2012
dbSNP: rs387906261
rs387906261
Entrez Id: 4125;84292
Gene Symbol: MAN2B1;WDR83
MAN2B1;WDR83
CUI: C0024748
Disease:
alpha-Mannosidosis 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: α-mannosidosis. 21368911 2011
dbSNP: rs864621977
rs864621977
Entrez Id: 4125;84292
Gene Symbol: MAN2B1;WDR83
MAN2B1;WDR83
CUI: C0024748
Disease:
alpha-Mannosidosis 		C 0.800 GeneticVariation CLINVAR Molecular and cellular characterization of novel {alpha}-mannosidosis mutations. 21505070 2011
dbSNP: rs864621977
rs864621977
Entrez Id: 4125;84292
Gene Symbol: MAN2B1;WDR83
MAN2B1;WDR83
CUI: C0024748
Disease:
alpha-Mannosidosis 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: α-mannosidosis. 21368911 2011
dbSNP: rs387906261
rs387906261
Entrez Id: 4125;84292
Gene Symbol: MAN2B1;WDR83
MAN2B1;WDR83
CUI: C0024748
Disease:
alpha-Mannosidosis 		0.800 GeneticVariation UNIPROT Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis. 15712269 2005
dbSNP: rs864621977
rs864621977
Entrez Id: 4125;84292
Gene Symbol: MAN2B1;WDR83
MAN2B1;WDR83
CUI: C0024748
Disease:
alpha-Mannosidosis 		0.800 GeneticVariation UNIPROT Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis. 15712269 2005
dbSNP: rs387906261
rs387906261
Entrez Id: 4125;84292
Gene Symbol: MAN2B1;WDR83
MAN2B1;WDR83
CUI: C0024748
Disease:
alpha-Mannosidosis 		0.800 GeneticVariation UNIPROT Alpha-mannosidosis and mutational analysis in a Turkish patient. 12718372 2003
dbSNP: rs864621977
rs864621977
Entrez Id: 4125;84292
Gene Symbol: MAN2B1;WDR83
MAN2B1;WDR83
CUI: C0024748
Disease:
alpha-Mannosidosis 		0.800 GeneticVariation UNIPROT Alpha-mannosidosis and mutational analysis in a Turkish patient. 12718372 2003
dbSNP: rs387906261
rs387906261
Entrez Id: 4125;84292
Gene Symbol: MAN2B1;WDR83
MAN2B1;WDR83
CUI: C0024748
Disease:
alpha-Mannosidosis 		0.800 GeneticVariation UNIPROT Spectrum of mutations in alpha-mannosidosis. 9915946 1999
dbSNP: rs864621977
rs864621977
Entrez Id: 4125;84292
Gene Symbol: MAN2B1;WDR83
MAN2B1;WDR83
CUI: C0024748
Disease:
alpha-Mannosidosis 		0.800 GeneticVariation UNIPROT Spectrum of mutations in alpha-mannosidosis. 9915946 1999
dbSNP: rs387906261
rs387906261
Entrez Id: 4125;84292
Gene Symbol: MAN2B1;WDR83
MAN2B1;WDR83
CUI: C0024748
Disease:
alpha-Mannosidosis 		0.800 GeneticVariation UNIPROT Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis. 9758606 1998
dbSNP: rs864621977
rs864621977
Entrez Id: 4125;84292
Gene Symbol: MAN2B1;WDR83
MAN2B1;WDR83
CUI: C0024748
Disease:
alpha-Mannosidosis 		0.800 GeneticVariation UNIPROT Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis. 9758606 1998
dbSNP: rs387906261
rs387906261
Entrez Id: 4125;84292
Gene Symbol: MAN2B1;WDR83
MAN2B1;WDR83
CUI: C0024748
Disease:
alpha-Mannosidosis 		0.800 GeneticVariation UNIPROT alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings. 9158146 1997
dbSNP: rs864621977
rs864621977
Entrez Id: 4125;84292
Gene Symbol: MAN2B1;WDR83
MAN2B1;WDR83
CUI: C0024748
Disease:
alpha-Mannosidosis 		0.800 GeneticVariation UNIPROT alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings. 9158146 1997
dbSNP: rs387906261
rs387906261
Entrez Id: 4125;84292
Gene Symbol: MAN2B1;WDR83
MAN2B1;WDR83
CUI: C0024748
Disease:
alpha-Mannosidosis 		A 0.800 CausalMutation CLINVAR
dbSNP: rs117130511
rs117130511
Entrez Id: 4125;84292
Gene Symbol: MAN2B1;WDR83
MAN2B1;WDR83
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs12976574
rs12976574
Entrez Id: 51398;84292
Gene Symbol: WDR83OS;WDR83
WDR83OS;WDR83
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs12976574
rs12976574
Entrez Id: 51398;84292
Gene Symbol: WDR83OS;WDR83
WDR83OS;WDR83
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs186561556
rs186561556
Entrez Id: 51398;84292
Gene Symbol: WDR83OS;WDR83
WDR83OS;WDR83
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs370803545
rs370803545
Entrez Id: 4125;84292
Gene Symbol: MAN2B1;WDR83
MAN2B1;WDR83
CUI: C0024748
Disease:
alpha-Mannosidosis 		A 0.700 GeneticVariation CLINVAR Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation. 26048034 2015
dbSNP: rs1555710070
rs1555710070
Entrez Id: 4125;84292
Gene Symbol: MAN2B1;WDR83
MAN2B1;WDR83
CUI: C0024748
Disease:
alpha-Mannosidosis 		T 0.700 GeneticVariation CLINVAR Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations. 22161967 2012
dbSNP: rs370803545
rs370803545
Entrez Id: 4125;84292
Gene Symbol: MAN2B1;WDR83
MAN2B1;WDR83
CUI: C0024748
Disease:
alpha-Mannosidosis 		A 0.700 GeneticVariation CLINVAR Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations. 22161967 2012