|
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
|
0.540 |
GeneticVariation
|
disease |
BEFREE |
CCDC88A mutations cause PEHO-like syndrome in humans and mouse.
|
26917597 |
2016 |
|
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
|
0.540 |
GeneticVariation
|
disease |
BEFREE |
In this study, we report a consanguineous Saudi family with a novel homozygous nonsense mutation of the CCDC88A gene causing PEHO-like syndrome.
|
30392057 |
2019 |
|
PEHO syndrome
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, a complete loss of protein function due to premature stop gain was caused by a mutation in exon 12 of CCDC88A.This loss may lead to PEHO phenotype.
|
30392057 |
2019 |
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.
|
21998595 |
2011 |
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.
|
21998595 |
2011 |
|
Neoplasms
|
0.080 |
GeneticVariation
|
group |
BEFREE |
Tumor 2 had an interstitial del(2)(p16p23) deletion causing the fusion of CCDC88A and ALK.
|
25795305 |
2015 |
|
Neoplasms
|
0.080 |
GeneticVariation
|
group |
BEFREE |
Swiss mice were divided into six groups, according to tumor forms: 1) ascitic model, GI (Control; 0.9% saline), GII (S<sub>180</sub>asc) and GIII (S<sub>180</sub>asc/HdCL/14 days); 2) solid model, GIV (Control; 0.9% saline), GV (S<sub>180</sub>sol) and GVI (S<sub>180</sub>sol/HdCL/10 days).
|
29079220 |
2018 |
|
Neoplasms
|
0.080 |
GeneticVariation
|
group |
BEFREE |
The findings indicated that a significantly decreased risk of SCCHN was associated with the ADPRT 762Ala/Ala genotype (adjusted odds ratio [OR], 0.51; 95% confidence interval [95% CI], 0.27-0.97) and the combined ADPRT 762Ala/Val and Ala/Ala genotypes (OR, 0.79; 95% CI; 0.63-1.00) compared with the ADPRT 762Val/Val genotype, but no altered risk was associated with the XRCC1 Arg399Gln or APE Asp148Glu polymorphisms, and no evidence of interactions was observed between the 3 selected SNPs and age, sex, smoking status, drinking status, or tumor site.
|
17614107 |
2007 |
|
Amyotrophic Lateral Sclerosis
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
We have identified missense mutations in the APE gene coding for a multifunctional DNA repair enzyme, AP endonuclease in eight of 11 patients with amyotrophic lateral sclerosis (ALS) and familial ALS.
|
9507962 |
1998 |
|
Adenocarcinoma
|
0.010 |
GeneticVariation
|
group |
BEFREE |
The AA genotype and A allele carriers of the APE gene were more frequent in the transitional epithelial carcinoma group than in the adenocarcinoma group.
|
19414392 |
2009 |
|
Carcinoma
|
0.010 |
GeneticVariation
|
group |
BEFREE |
The AA genotype and A allele carriers of the APE gene were more frequent in the transitional epithelial carcinoma group than in the adenocarcinoma group.
|
19414392 |
2009 |
|
Rectal Carcinoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The aim of this prospective registry-based population study was to investigate the association between QoL 3 years after surgery for rectal cancer and intrusive thoughts and to assess the association with the type of surgery (i.e., APE or ELAPE) in a population-based national cohort.
|
29665309 |
2018 |
|
Conjunctivitis, Acute Hemorrhagic
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, our isolates shared greatest homology with the GIV-C4 strains, not with the isolates that were responsible for the nationwide acute hemorrhagic conjunctivitis epidemic in China in 2007.
|
24475191 |
2014 |
|
Graves Disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
These preliminary results suggest that APE/Ref-1 (codon 148) and XRCC1 (codons 194 and 399) polymorphisms are not significant risk factors for developing GD.
|
19711438 |
2009 |
|
Hepatitis A
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Hepatitis A virus (HAV), genogroup GI, GII, and GIV norovirus (NoV), enterovirus (EV), rotavirus (RoV), hepatitis E virus (HEV), adenovirus (AdV), and bocavirus (BoV) were detected by nested (RT) PCR, real-time PCR, and sequence analysis.
|
30639406 |
2019 |
|
Cerebrovascular accident
|
0.010 |
GeneticVariation
|
group |
BEFREE |
A prospective study of polymorphisms of DNA repair genes XRCC1, XPD23 and APE/ref-1 and risk of stroke in Linxian, China.
|
17630376 |
2007 |
|
Spina Bifida
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Elevated or decreased odds ratios (OR, adjusted for race/ethnicity) for spina bifida were found for genotypes containing at least one copy of the variant allele for XPD [751Gln, OR = 1.62; 95% confidence interval (CI) = 1.05-2.50] and APE 148 (OR = 0.58; CI = 0.37-0.90).
|
15887293 |
2005 |
|
Squamous cell carcinoma of the head and neck
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The findings indicated that a significantly decreased risk of SCCHN was associated with the ADPRT 762Ala/Ala genotype (adjusted odds ratio [OR], 0.51; 95% confidence interval [95% CI], 0.27-0.97) and the combined ADPRT 762Ala/Val and Ala/Ala genotypes (OR, 0.79; 95% CI; 0.63-1.00) compared with the ADPRT 762Val/Val genotype, but no altered risk was associated with the XRCC1 Arg399Gln or APE Asp148Glu polymorphisms, and no evidence of interactions was observed between the 3 selected SNPs and age, sex, smoking status, drinking status, or tumor site.
|
17614107 |
2007 |
|
Intellectual Disability
|
0.010 |
GeneticVariation
|
group |
BEFREE |
The purpose of this study was to explore whether an APE e-learning supplement would have an impact on the level of self-efficacy and content knowledge of pre-service teachers related to including students with intellectual disabilities.
|
28800425 |
2017 |
|
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
|
0.540 |
Biomarker
|
disease |
BEFREE |
We suggest that PEHO or a PEHO-like syndrome may affect more patients than are currently identified, based on the original diagnostic criteria for this disorder.
|
12949965 |
2003 |
|
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
|
0.540 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
In this study, we report a consanguineous Saudi family with a novel homozygous nonsense mutation of the CCDC88A gene causing PEHO-like syndrome.
|
30392057 |
2019 |
|
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
|
0.540 |
Biomarker
|
disease |
BEFREE |
Variants in ZNHIT3 have not been identified in patients with PEHO or PEHO-like syndrome in other populations.
|
31048081 |
2020 |
|
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
|
0.540 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
CCDC88A mutations cause PEHO-like syndrome in humans and mouse.
|
26917597 |
2016 |
|
PEHO syndrome
|
0.320 |
Biomarker
|
disease |
BEFREE |
As the mouse knockout phenotype mimics the human PEHO phenotype this suggests that loss of CCDC88A is a cause of the PEHO phenotype, and that CCDC88A is essential for multiple aspects of normal human neurodevelopment.
|
26917597 |
2016 |