Abnormal vertebral morphology
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Abnormality of pulmonary valve
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Abnormality of the outer ear
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Abnormality of the ribs
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Abnormality of the tragus
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Abnormality of vision
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Acute lymphocytic leukemia
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We found that expression of the Wnt inhibitors sFRP1, sFRP2, sFRP4, sFRP5, WIF1, Dkk3, and Hdpr1 was down-regulated due to abnormal promoter methylation in ALL cell lines and samples from patients with ALL.
|
17148581 |
2007 |
Adult Acute Lymphocytic Leukemia
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We found that expression of the Wnt inhibitors sFRP1, sFRP2, sFRP4, sFRP5, WIF1, Dkk3, and Hdpr1 was down-regulated due to abnormal promoter methylation in ALL cell lines and samples from patients with ALL.
|
17148581 |
2007 |
Agenesis of corpus callosum
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Anencephaly
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Anteriorly placed anus
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Anus, Imperforate
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
Anus, Imperforate
|
0.110 |
Biomarker
|
disease |
BEFREE |
A heterozygous nonsense variant was identified in dapper, antagonist of beta-catenin, 1 (DACT1) via whole-exome sequencing in family members with imperforate anus, structural renal abnormalities, genitourinary anomalies, and/or ear anomalies.
|
28054444 |
2017 |
Aplasia/Hypoplasia of the 3rd toe
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Arnold Chiari Malformation
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Asthma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
DACT1, DACT2 and DACT3 were significantly upregulated in specimens from children with asthma compared with controls (P<0.05) and the expression of DACT1 was significantly more increased compared with DACT2 and DACT3 (P<0.05).
|
29456669 |
2018 |
Atrial Septal Defects
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
|
0.010 |
Biomarker
|
disease |
BEFREE |
The clinical significance of aberrant promoter methylation of the canonical Wnt pathway antagonist genes (sFRP1, sFRP2, sFRP4, sFRP5, Wif1, Dkk3, and Hdpr1) and also putative tumor-suppressor gene Wnt5a, belonging to the non-canonical Wnt signaling pathway, was investigated in a large series of 75 patients with Philadelphia chromosome-positive acute lymphoblastic leukemia by methylation-specific polymerase chain reaction.
|
18549404 |
2008 |
Bifid scrotum
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Bifid uterus
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Blepharophimosis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Breast Carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Demethylation treatment of breast cancer cell lines restored DACT1 expression along with promoter demethylation, suggesting that an epigenetic mechanism mediates DACT1 silencing in breast cancer.
|
23497530 |
2013 |
Broad hallux phalanx
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Broad thumbs
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Carcinogenesis
|
0.030 |
AlteredExpression
|
phenotype |
BEFREE |
Ectopic expression of DACT1 in silenced gastric cancer cell lines (AGS, BGC823 and MGC803) by stable transfection suppressed colony formation (P < 0.001), induced cell apoptosis (P < 0.01) and retarded tumorigenesis in nude mice (P < 0.001).
|
23073659 |
2012 |