NUP62, nucleoporin 62, 23636

N. diseases: 273; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917865
rs121917865
Entrez Id: 23636;259307
Gene Symbol: NUP62;IL4I1
NUP62;IL4I1
CUI: C0795996
Disease:
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
0.800 GeneticVariation UNIPROT Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. 16786527 2006
dbSNP: rs121917865
rs121917865
Entrez Id: 23636;259307
Gene Symbol: NUP62;IL4I1
NUP62;IL4I1
CUI: C0795996
Disease:
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
G 0.800 CausalMutation CLINVAR
dbSNP: rs1299491
rs1299491
Entrez Id: 23636;259307
Gene Symbol: NUP62;IL4I1
NUP62;IL4I1
CUI: C0025303
Disease:
Meningococcal Infections
0.700 GeneticVariation GWASDB Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease. 20694013 2010
dbSNP: rs756915170
rs756915170
Entrez Id: 23636;259307
Gene Symbol: NUP62;IL4I1
NUP62;IL4I1
CUI: C0027765
Disease:
nervous system disorder
0.010 GeneticVariation BEFREE Here, we investigated the potential of α-synuclein fibrils to induce neurological disease in TgM83<sup>+/-</sup> mice expressing the A53T mutant of human α-synuclein after oral or intravenous challenge and compared it to intraperitoneal and intracerebral challenge. 31230104 2019
dbSNP: rs745557509
rs745557509
Entrez Id: 23636;259307
Gene Symbol: NUP62;IL4I1
NUP62;IL4I1
CUI: C0002395
Disease:
Alzheimer's Disease
0.010 GeneticVariation BEFREE In this study, using APP/PS1 transgenic mice as AD model, we investigated the mechanism by which S14G-humanin (HNG) improved autophagy and insulin signaling in AD brain. 29058763 2018
dbSNP: rs756915170
rs756915170
Entrez Id: 23636;259307
Gene Symbol: NUP62;IL4I1
NUP62;IL4I1
CUI: C0006111
Disease:
Brain Diseases
0.010 GeneticVariation BEFREE Astrocytes have a neuroprotective role in several detrimental brain conditions; we therefore analyzed the effects of the overexpression of wild-type α-synuclein and its A30P and A53T mutants on autophagy and apoptosis. 28573674 2018
dbSNP: rs372446928
rs372446928
Entrez Id: 23636;259307
Gene Symbol: NUP62;IL4I1
NUP62;IL4I1
CUI: C1959626
Disease:
Mevalonic Aciduria
0.010 GeneticVariation BEFREE Based on this hypothesis and considering that neurologic impairment characterizes Mevalonic Aciduria (MA), the most severe form of MKD, we studied the effects of I268T and N301T MVK mutations on protein prenylation, autophagy and programmed cell death in SH-SY5Y neuroblastoma cell lines. 28359055 2017
dbSNP: rs372446928
rs372446928
Entrez Id: 23636;259307
Gene Symbol: NUP62;IL4I1
NUP62;IL4I1
CUI: C0342731
Disease:
Deficiency of mevalonate kinase
0.010 GeneticVariation BEFREE Based on this hypothesis and considering that neurologic impairment characterizes Mevalonic Aciduria (MA), the most severe form of MKD, we studied the effects of I268T and N301T MVK mutations on protein prenylation, autophagy and programmed cell death in SH-SY5Y neuroblastoma cell lines. 28359055 2017
dbSNP: rs753716740
rs753716740
Entrez Id: 23636;259307
Gene Symbol: NUP62;IL4I1
NUP62;IL4I1
CUI: C1959626
Disease:
Mevalonic Aciduria
0.010 GeneticVariation BEFREE Based on this hypothesis and considering that neurologic impairment characterizes Mevalonic Aciduria (MA), the most severe form of MKD, we studied the effects of I268T and N301T MVK mutations on protein prenylation, autophagy and programmed cell death in SH-SY5Y neuroblastoma cell lines. 28359055 2017
dbSNP: rs753716740
rs753716740
Entrez Id: 23636;259307
Gene Symbol: NUP62;IL4I1
NUP62;IL4I1
CUI: C0342731
Disease:
Deficiency of mevalonate kinase
0.010 GeneticVariation BEFREE Based on this hypothesis and considering that neurologic impairment characterizes Mevalonic Aciduria (MA), the most severe form of MKD, we studied the effects of I268T and N301T MVK mutations on protein prenylation, autophagy and programmed cell death in SH-SY5Y neuroblastoma cell lines. 28359055 2017