|
Broad femoral neck
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Cancerophobia
|
0.010 |
Biomarker
|
disease |
BEFREE |
New insights into frequency and contents of fear of cancer progression/recurrence (FOP/FCR) in outpatients with colorectal carcinoma (CRC) receiving oral capecitabine: a pilot study at a comprehensive cancer center.
|
29180853 |
2017 |
|
Carcinogenesis
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
These findings suggest that the PSMD14-ALK2 axis plays an essential role in initiation of the BMP6 signaling pathway and contributes to tumorigenesis and chemoresistance of colorectal cancers.
|
31685442 |
2019 |
|
Carcinoma
|
0.010 |
AlteredExpression
|
group |
BEFREE |
These findings suggest that copy number alterations at 2q24 can be involved in ACVR1 overexpression, which is associated with longer overall survival in laryngeal carcinomas.
|
21668474 |
2011 |
|
Cerebral Astrocytoma
|
0.300 |
Biomarker
|
disease |
CTD_human |
Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma.
|
24705250 |
2014 |
|
cervical cancer
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The TOP/ FOP-Flash reporter assay and Western blotting showed SOX17 inhibited the activity of the Wnt/β-catenin signaling pathway in cervical cancer.
|
29970906 |
2018 |
|
Cervix carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The TOP/ FOP-Flash reporter assay and Western blotting showed SOX17 inhibited the activity of the Wnt/β-catenin signaling pathway in cervical cancer.
|
29970906 |
2018 |
|
Childhood Astrocytoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma.
|
24705250 |
2014 |
|
Childhood Brain Neoplasm
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function mutations in the Type I Bone Morphogenic Protein (BMP) receptor ACVR1 have been identified in two diseases: Fibrodysplasia Ossificans Progressiva (FOP), a rare autosomal dominant disorder characterized by genetically driven heterotopic ossification, and in 20-25% of Diffuse Intrinsic Pontine Gliomas (DIPGs), a pediatric brain tumor with no effective therapies and dismal median survival.
|
28780023 |
2018 |
|
Childhood Brain Stem Neoplasm
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Whole-genome sequencing studies have recently identified a quarter of cases of the rare childhood brainstem tumor diffuse intrinsic pontine glioma to harbor somatic mutations in ACVR1.
|
25136070 |
2014 |
|
Childhood Cerebral Astrocytoma
|
0.300 |
Biomarker
|
disease |
CTD_human |
Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma.
|
24705250 |
2014 |
|
Chronic myeloproliferative disorder
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Localization of the FOP-FGFR1 fusion kinase to centriolar satellites may be relevant to myeloproliferative neoplasm disease progression.
|
23554904 |
2013 |
|
Chronic myeloproliferative disorder
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
In this study, we show that expression of FOP-FGFR1 in primary bone marrow cells induced by retroviral transduction generates a MPD in mice.
|
12969958 |
2004 |
|
Chronic myeloproliferative disorder
|
0.030 |
Biomarker
|
disease |
BEFREE |
8p12 stem cell myeloproliferative disorder: the FOP-fibroblast growth factor receptor 1 fusion protein of the t(6;8) translocation induces cell survival mediated by mitogen-activated protein kinase and phosphatidylinositol 3-kinase/Akt/mTOR pathways.
|
11689702 |
2001 |
|
Ciliopathies
|
0.010 |
Biomarker
|
disease |
BEFREE |
Together, these data demonstrate a role for the CEP19, FOP and CEP350 module in ciliogenesis and the possible effect of disrupting their functions in ciliopathies.
|
28659385 |
2017 |
|
Clinodactyly of the 5th finger
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Colorectal Carcinoma
|
0.030 |
Biomarker
|
disease |
BEFREE |
New insights into frequency and contents of fear of cancer progression/recurrence (FOP/FCR) in outpatients with colorectal carcinoma (CRC) receiving oral capecitabine: a pilot study at a comprehensive cancer center.
|
29180853 |
2017 |
|
Colorectal Carcinoma
|
0.030 |
Biomarker
|
disease |
BEFREE |
These findings suggest that the PSMD14-ALK2 axis plays an essential role in initiation of the BMP6 signaling pathway and contributes to tumorigenesis and chemoresistance of colorectal cancers.
|
31685442 |
2019 |
|
Colorectal Carcinoma
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
We observed that compared with A carriers (AA + AG), the GG genotype of rs12997:ACVR1 is associated with a significantly higher risk of CRC (OR = 1.52, 95% confidence interval (95% CI) = 1.04-2.21, P = 0.031), particularly in nonsmokers with a higher OR of 1.63 (95% CI = 1.04-2.55, P = 0.032).
|
24375256 |
2014 |
|
Complete Trisomy 21 Syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
Through a large-candidate gene-sequencing screen in patients with atrioventricular septal defects, substitutions were identified in bone morphogenetic protein (BMP) type I receptor ALK2 and two other genes in a patient with DS and a primum-type atrial septal defect.
|
21248739 |
2011 |
|
Conductive hearing loss
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Congenital Abnormality
|
0.080 |
GeneticVariation
|
group |
BEFREE |
The delayed diagnosis of an FOP variant in this patient could have been avoided if the significance of severe digital malformations had been recognized, especially in the setting of progressive heterotopic ossification.
|
31012264 |
2019 |
|
Congenital Abnormality
|
0.080 |
GeneticVariation
|
group |
BEFREE |
We analyzed baseline whole body (minus skull) computed tomographic (CT) scans of 113 individuals with classic clinical features of FOP and the ACVR1 (R206H) mutation who were enrolled in a non-interventional natural history study ((NCT02322255)) for skeletal malformations, atypical morphology, intra-articular synovial osteochondromatosis, developmental arthropathy, and associated degenerative joint phenotypes.
|
31655222 |
2020 |
|
Congenital Abnormality
|
0.080 |
Biomarker
|
group |
BEFREE |
<i>ACVR1</i> is linked to different pathologies, including cardiac malformations and alterations in the reproductive system.
|
31683698 |
2019 |
|
Congenital Abnormality
|
0.080 |
GeneticVariation
|
group |
BEFREE |
All patients with classic clinical features of FOP (great toe malformations and progressive heterotopic ossification) have previously been found to carry the same heterozygous mutation (c.617G>A; p.R206H) in the glycine and serine residue (GS) activation domain of activin A type I receptor/activin-like kinase 2 (ACVR1/ALK2), a bone morphogenetic protein (BMP) type I receptor.
|
19085907 |
2009 |