|
Abnormal behavior
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems.
|
23035971 |
2012 |
|
Abnormality of upper lip
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Acute Erythroblastic Leukemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Among 34 patients diagnosed with AEL, diagnosis was shifted to MDS-EB in 28 patients (28/34, 82.3%) and MDS-U in 2 patients (2/34, 5.9%), while remained as AEL in 4 patients (4/34, 11.8%) according to 2016 WHO criteria.
|
29729583 |
2018 |
|
Acute monocytic leukemia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
AML with LM-CH was found in 40 patients (23%) and was associated with clonal hematopoiesis of indeterminate potential years before AML, older age, secondary AML and more frequent MDS-type co-mutations (TET2, RUNX1 and EZH2).
|
27881874 |
2017 |
|
Adenocarcinoma of lung (disorder)
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The amplification of EEF1A2 and KCIP-1 and the presence of overexpressed protein in tumor samples strongly suggest that these genes could be oncogenes and hence potential targets for diagnosis and therapy in lung adenocarcinoma.
|
16369491 |
2006 |
|
Adult Acute Myeloblastic Leukemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Metformin, a widely used antidiabetic drug, has previously been demonstrated to exert anti-cancer effects in certain hematological malignancies, but its effects on the transformation of myelodysplastic syndromes to acute myeloid leukemia (AML-MDS) remain unclear.
|
31744691 |
2019 |
|
Adult Myelodysplastic Syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Patient was initially diagnosed with low-risk myelodysplastic syndrome-refractory cytopenias and multilineage dysplasia (MDS-RCMD), progressed to AML after failing hypomethylating agent therapy.
|
28187034 |
2019 |
|
Alexithymia
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
MDS-16 scores were associated with global psychopathology, traumatic experiences, maladaptive personality features, alexithymia, dissociation, shame feelings, and anxious attachment styles.
|
31012744 |
2019 |
|
Anteverted nostril
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Anxiety
|
0.020 |
Biomarker
|
disease |
BEFREE |
Both groups were assessed for disease severity (MDS-UPDRS), cognition (NIH Toolbox® cognition battery, Trail Making Test), psychological symptoms (Hospital Anxiety and Depression Scale, MDS-UPDRS-I) and QoL (PDQ-39, MDS-UPDRS-II).
|
31561398 |
2019 |
|
Anxiety
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
The following patients' characteristics were measured: disease severity (MDS-UPDRS); cognitive status (MoCA); non-motor signs (NMSS); quality of life (PDQ-8); anxiety and depression (HADS); and levodopa equivalent dose.
|
30032927 |
2018 |
|
Anxiety Disorders
|
0.020 |
GeneticVariation
|
group |
BEFREE |
The following patients' characteristics were measured: disease severity (MDS-UPDRS); cognitive status (MoCA); non-motor signs (NMSS); quality of life (PDQ-8); anxiety and depression (HADS); and levodopa equivalent dose.
|
30032927 |
2018 |
|
Anxiety Disorders
|
0.020 |
Biomarker
|
group |
BEFREE |
Both groups were assessed for disease severity (MDS-UPDRS), cognition (NIH Toolbox® cognition battery, Trail Making Test), psychological symptoms (Hospital Anxiety and Depression Scale, MDS-UPDRS-I) and QoL (PDQ-39, MDS-UPDRS-II).
|
31561398 |
2019 |
|
Aplastic Anemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
A total of 41 patients with AA and 46 patients with hypo-MDS were collected, and the proportions of peripheral blood T lymphocyte subsets, CD3<sup>-</sup>CD16/CD56<sup>+</sup>NK cells, CD3<sup>+</sup>CD57<sup>+</sup>T-LGL cells and CD19<sup>+</sup>B lymphocytes were detected by flow cytometry.
|
28935248 |
2017 |
|
Arthralgia
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
By comparison with Crohn's disease, 39 patients with Behcet's-like syndrome and +8-MDS/MPN were significantly older (median 72 [53-78] vs 36 [27-45] years; <i>p</i> = .0002) and more frequently had oral aphtosis (97% vs 5%, <i>p</i> < .0001), skin features (50% vs 10%, <i>p</i> = .0005) and arthralgia (63% vs 20%, <i>p</i> = .03).
|
30457024 |
2019 |
|
Ataxia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Autism Spectrum Disorders
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
While deletion of chromosome 17p13.3 (encompassing PAFAH1B1 and YWHAE genes) is known to result in Miller-Dieker syndrome (OMIM 247200), 17p13.3 microduplication gives rise to a condition commonly associated with developmental delay and autism spectrum disorder.
|
23063769 |
2012 |
|
Autistic behavior
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Duplication of YWHAE and surrounding genes increases the risk for macrosomia, mild developmental delay and pervasive developmental disorder, and results in shared facial dysmorphologies.
|
19136950 |
2009 |
|
Autistic Disorder
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Isolated duplications of PAFAH1B1 have been associated with mild developmental delay and hypotonia, while isolated duplications of YWHAE have been associated with autism.
|
23035971 |
2012 |
|
Autistic Disorder
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
Overexpression of YWHAE is associated with macrosomia, mild developmental delay, autism and facial dysmorphisms, and deletion of PAFAH1B1 alone leads to isolated lissencephaly (ILS).
|
23633430 |
2013 |
|
Autistic Disorder
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
In particular, a gain of function mutation in the CACNA1C gene, deletions and disruption of the SYNGAP1 gene, a copy number variation encompassing the MAPK3 gene and a duplication of YWHAE indicate that in a subset of autism patients the ERK cascade is inappropriately activated.
|
22884480 |
2012 |
|
Behcet Syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
Median survival did not differ between patients with Behcet's-like syndrome and +8-MDS/MPN and those with +8-MDS/MPN (<i>n</i> = 103) (47 vs 34 months, <i>p</i> = .61).
|
30457024 |
2019 |
|
Bipolar Disorder
|
0.320 |
Biomarker
|
disease |
PSYGENET |
In 2011, we conducted this genetic association analysis between 11 SNPs in YWHAE and bipolar disorder, involving a male group and a female group.
|
23140658 |
2012 |
|
Bipolar Disorder
|
0.320 |
Biomarker
|
disease |
BEFREE |
In 2011, we conducted this genetic association analysis between 11 SNPs in YWHAE and bipolar disorder, involving a male group and a female group.
|
23140658 |
2012 |
|
Bipolar Disorder
|
0.320 |
Biomarker
|
disease |
PSYGENET |
Considering the size of our sample sets (power > 90%), our results suggest that the YWHAE does not play a major role in schizophrenia, major depressive disorder or bipolar disorder in the Han Chinese population.
|
21184166 |
2011 |