OGA, O-GlcNAcase, 10724

N. diseases: 140; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3740422
rs3740422
Entrez Id: 10724
Gene Symbol: OGA
OGA
CUI: C0021704
Disease:
Intelligence 		C 0.700 GeneticVariation GWASCAT Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. 29942086 2018
dbSNP: rs1458523090
rs1458523090
Entrez Id: 10724
Gene Symbol: OGA
OGA
CUI: C0036161
Disease:
Sandhoff Disease 		0.010 GeneticVariation BEFREE Our study indicates that the mutation p.T209I and p.P468PfsX62 may link to the infantile form of SD. 27021291 2016
dbSNP: rs1277240795
rs1277240795
Entrez Id: 10724
Gene Symbol: OGA
OGA
CUI: C0003467
Disease:
Anxiety 		0.010 GeneticVariation BEFREE Dutch APP(E693Q) transgenic mice accumulate oligomeric Aβ as they age, as well as Aβ oligomer-dose-dependent anxiety and impaired novel object recognition (NOR). 25349165 2015
dbSNP: rs1277240795
rs1277240795
Entrez Id: 10724
Gene Symbol: OGA
OGA
CUI: C0003469
Disease:
Anxiety Disorders 		0.010 GeneticVariation BEFREE Dutch APP(E693Q) transgenic mice accumulate oligomeric Aβ as they age, as well as Aβ oligomer-dose-dependent anxiety and impaired novel object recognition (NOR). 25349165 2015
dbSNP: rs1300858963
rs1300858963
Entrez Id: 10724
Gene Symbol: OGA
OGA
CUI: C0949664
Disease:
Tauopathies 		0.010 GeneticVariation BEFREE P301S-htau-positive neurons grew aberrant axons, including spheroids, typically found in human tauopathies. 24227726 2013
dbSNP: rs989461497
rs989461497
Entrez Id: 10724
Gene Symbol: OGA
OGA
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.010 GeneticVariation BEFREE Finally, reducing p65 O-GlcNAcylation specifically by mutating two p65 O-GlcNAc sites (T322A and T352A) attenuated the induction of PDAC cell anchorage-independent growth. 23592772 2013
dbSNP: rs750904605
rs750904605
Entrez Id: 10724
Gene Symbol: OGA
OGA
CUI: C0039373
Disease:
Tay-Sachs Disease 		0.010 GeneticVariation BEFREE Six of the unknowns were identified as c.748G>A p.G250S, a mutation we show by expression analysis to behave similarly to the previously described c.805G>A p.G269S adult-onset TSD mutation. 17259242 2007