|
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 |
|
Malignant Neoplasms
|
0.040 |
AlteredExpression
|
group |
BEFREE |
Kaplan-Meier analysis of disease-free survival in cancer patients shows poor prognosis for patients with high expression of both GIV and GRP78, further suggesting a vital role for these two proteins in enhancing cancer cell viability.
|
31736058 |
2020 |
|
Primary malignant neoplasm
|
0.040 |
AlteredExpression
|
group |
BEFREE |
Kaplan-Meier analysis of disease-free survival in cancer patients shows poor prognosis for patients with high expression of both GIV and GRP78, further suggesting a vital role for these two proteins in enhancing cancer cell viability.
|
31736058 |
2020 |
|
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 |
|
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 |
|
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 |
|
Microcephaly
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel homozygous nonsense mutation in CCDC88A gene cause PEHO-like syndrome in consanguineous Saudi family.
|
30392057 |
2019 |
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Enterovirus Infections
|
0.020 |
Biomarker
|
group |
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 |
|
Hepatitis E
|
0.020 |
Biomarker
|
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 |
|
Japanese Encephalitis
|
0.010 |
Biomarker
|
disease |
BEFREE |
Japanese encephalitis virus (JEV) is classified into 5 genotypes (GI, GII, GIII, GIV, and GV), and the GI and GIII strains are the most widely distributed in JE endemic areas.
|
30381682 |
2019 |
|
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 |
|
Metabolic Diseases
|
0.010 |
Biomarker
|
group |
BEFREE |
The unique presence of serpin A3-7, coiled-coil domain containing 88A and inhibin/activin β A chain in HR-EXO, indicates potential biomarkers for cows at-risk for metabolic diseases.
|
31554846 |
2019 |
|
Neoplasm Metastasis
|
0.080 |
Biomarker
|
phenotype |
BEFREE |
Girdin protein: A potential metastasis predictor associated with prognosis in lung cancer.
|
29456687 |
2018 |
|
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 |
|
Astrocytoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
Clinico-pathological analysis reveals 83% of high-grade astrocytoma (GIII + GIV) and 30% of low-grade (GII) tissue samples which were detected with pDok2 expression.
|
27975172 |
2018 |
|
Enterovirus Infections
|
0.020 |
Biomarker
|
group |
BEFREE |
The present study aimed to develop a high-throughput detection-and-genotyping tool for 11 human RNA viruses [Aichi virus; astrovirus; enterovirus; norovirus genogroup I (GI), GII, and GIV; hepatitis A virus; hepatitis E virus; rotavirus; sapovirus; and human parechovirus] using a microfluidic device and next-generation sequencer.
|
29755444 |
2018 |
|
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 |
|
Vascular Diseases
|
0.010 |
Biomarker
|
group |
BEFREE |
However, the role of Ang II in the interaction between apurinic/apyrimidinic endonuclease/redox factor-1 (APE/Ref-1) and sphingosine-1-phosphate (S1P) signals in relation to vascular disorders remains to be clarified.
|
29609002 |
2018 |
|
Malignant neoplasm of lung
|
0.010 |
Biomarker
|
disease |
BEFREE |
Girdin protein: A potential metastasis predictor associated with prognosis in lung cancer.
|
29456687 |
2018 |
|
Intrusive thoughts
|
0.010 |
Biomarker
|
disease |
BEFREE |
Association between operative technique and intrusive thoughts on health-related Quality of Life 3 years after APE/ELAPE for rectal cancer: results from a national Swedish cohort with comparison with normative Swedish data.
|
29665309 |
2018 |
|
Carcinoma of lung
|
0.010 |
Biomarker
|
disease |
BEFREE |
Girdin protein: A potential metastasis predictor associated with prognosis in lung cancer.
|
29456687 |
2018 |
|
Primary malignant neoplasm of lung
|
0.010 |
Biomarker
|
disease |
BEFREE |
Girdin protein: A potential metastasis predictor associated with prognosis in lung cancer.
|
29456687 |
2018 |
|
Childhood Astrocytoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Clinico-pathological analysis reveals 83% of high-grade astrocytoma (GIII + GIV) and 30% of low-grade (GII) tissue samples which were detected with pDok2 expression.
|
27975172 |
2018 |
|
Neoplasm Metastasis
|
0.080 |
AlteredExpression
|
phenotype |
BEFREE |
GIV expression promotes metastasis and disruption of its binding to Gαi blunts the pro-metastatic behavior of cancer cells.
|
28819150 |
2017 |