|
Wide nose
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
von Willebrand Disease, Type 3
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The von Willebrand factor (vWF) genes of nine unrelated, severe, type III von Willebrand's disease (vWD) patients (six of Dutch origin) and four unrelated Dutch type I vWD patients were screened for mutations in exons that contain CGA codons (Arg), which are liable to mutation to TGA stop codons.
|
1448779 |
1992 |
|
Vitamin D-Resistant Rickets, X-Linked
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Molecular genetic analysis revealed a 747 CGA (Arg)-TGA (End) mutation in exon 22 of the PHEX gene, confirming XLH.
|
14514346 |
2003 |
|
Vesico-Ureteral Reflux
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Vertebral chordoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Spinal column chordoma: prognostic significance of clinical variables and T (brachyury) gene SNP rs2305089 for local recurrence and overall survival.
|
27663388 |
2017 |
|
Ventricular Septal Defects
|
0.140 |
GeneticVariation
|
group |
BEFREE |
Mutations in the coding regions of TBX1 gene have been associated to 22q11 deletion syndrome with cardiac defects and isolated CHD cases, including ventricular septal defect (VSD).
|
22801995 |
2012 |
|
Ventricular Septal Defects
|
0.140 |
Biomarker
|
group |
HPO |
|
|
|
|
Ventricular Septal Defects
|
0.140 |
Biomarker
|
group |
BEFREE |
TBX1) in a spectrum of ventricular septal defects located at the level of the outflow tract.At the venous pole (e.g.
|
25307363 |
2014 |
|
Ventricular Septal Defects
|
0.140 |
GeneticVariation
|
group |
BEFREE |
A novel heterozygous TBX1 mutation, p.S233Y, was identified in a patient with transposition of the great arteries (TGA) and a ventricular septal defect.
|
29250159 |
2018 |
|
Ventricular Septal Defects
|
0.140 |
GeneticVariation
|
group |
BEFREE |
As a result, a novel heterozygous TBX1 mutation, p.Q277X, was identified in an index patient with double outlet right ventricle (DORV) and ventricular septal defect (VSD).
|
25860641 |
2015 |
|
Velopharyngeal Insufficiency
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Varicosity
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Uterine Anomalies
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
Urethral Stenosis
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Uranostaphyloschisis
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Two of the most common phenotypic categories, congenital heart disease and cleft palate, have been proposed to have a common genetic relationship to the deleted T-box 1 gene (TBX1).
|
21763005 |
2011 |
|
Uranostaphyloschisis
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Overall, this study indicates that common DNA variants in TBX1 may be nominally causative for CP in patients with 22q11DS.
|
23034814 |
2012 |
|
Uranostaphyloschisis
|
0.060 |
AlteredExpression
|
disease |
BEFREE |
Cleft palate was observed in both conditional knockout and over-expression mice, consistent with the craniofacial/tooth defects associated with TBX1 deletion and the gene duplication that leads to 22q11.2DS.
|
25556186 |
2015 |
|
Uranostaphyloschisis
|
0.060 |
Biomarker
|
disease |
BEFREE |
Moreover, Tbx1-/- mice displayed a wide range of developmental anomalies encompassing almost all of the common DGS/VCFS features, including hypoplasia of the thymus and parathyroid glands, cardiac outflow tract abnormalities, abnormal facial structures, abnormal vertebrae and cleft palate.
|
11242110 |
2001 |
|
Uranostaphyloschisis
|
0.060 |
Biomarker
|
disease |
BEFREE |
Shprintzen syndrome (velo-cardio-facial, VCFS) is a very rare morbid entity, seen in either familial or sporadic forms, with major clinical findings such as facial dysmorphism, cleft palate, cardiovascular (especially conotruncal-anomalies), mild/moderate mental retardation, or, more commonly, observed learning difficulty.
|
17117043 |
2007 |
|
Uranostaphyloschisis
|
0.060 |
Biomarker
|
disease |
BEFREE |
Histological analysis of Tbx1-knockout palate with complete cleft palate at postnatal day 1 showed aplasia of secondary palates associated with a small mandible and a small tongue compared to wild type littermates.
|
30121012 |
2018 |
|
Upward slant of palpebral fissure
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Unilateral primary pulmonary dysgenesis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Unilateral agenesis of kidney
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Undifferentiated leukemia
|
0.020 |
Biomarker
|
disease |
BEFREE |
Consistent with an embryologically derived hemangioblast, the neoplastic cells demonstrated coexpression of the mesodermal markers brachyury, Flk-1 (vascular endothelial growth factor-2), and stem cell leukemia (Scl).
|
17298169 |
2007 |
|
Undifferentiated leukemia
|
0.020 |
Biomarker
|
disease |
BEFREE |
Further, corresponding to the morphological changes of nucleolus in number and size, these highly proliferating SSEA1 cells demonstrated coexpression of either D2-40 or the mesodermal marker Scl (stem cell leukemia), brachyury, and Flk-1 (vascular endothelial growth factor-2), respectively, indicative of the neoplasmtic transformation into the stromal or vascular cells.
|
21811099 |
2011 |