ACVRL1, activin A receptor like type 1, 94

N. diseases: 224; N. variants: 114
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		0.010 AlteredExpression disease BEFREE In addition, qRT-PCR demonstrated a significant upregulation of ALK1 mRNA expression in TAA tissues. 31623405 2019
CUI: C0023418
Disease: leukemia
leukemia 		0.010 Biomarker disease BEFREE We evaluated whether HHT combined with ATO can systematically kill leukemia stem cells (LSCs) and explored the synergistic effect and molecular mechanism. 31307525 2019
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		0.010 Biomarker group BEFREE 1/2 of the MS cases were positive for desmin; 6/10 of the DF cases were positive for β-catenin, and 2 of the MF cases were positive for ALK-1. 30168888 2019
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.010 GeneticVariation disease BEFREE The risk of EH increased in the recessive model of the <i>ACVRL1</i> gene rs121909287 locus (adjusted OR = 1.403, 95% CI: 1.101-1.660, <i>P</i>=0.008). 30617053 2019
CUI: C0206645
Disease: Desmoplastic fibroma
Desmoplastic fibroma 		0.010 Biomarker disease BEFREE Using a tissue microarray technique (TMA), cases of myofibroma (MF), of nodular fasciitis (NF), of desmoplastic fibroma (DF), and of myofibroblastic sarcoma (MS) from the Universidad Autónoma Metropolitana Xochimilco, and a Private Oral Pathology Service in Mexico City were stained with antibodies against alpha-smooth muscle actin (α-SMA), H-caldesmon, vimentin, desmin, β-catenin, CD34, anaplastic lymphoma protein kinase (ALK-1), and Ki-67. 30168888 2019
CUI: C0220650
Disease: Metastatic malignant neoplasm to brain
Metastatic malignant neoplasm to brain 		0.010 GeneticVariation disease BEFREE A rare case of pulmonary IMS with ALK-1 gene rearrangement and multiple brain metastases responded to three generations of ALK inhibitors. 29925295 2019
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.010 GeneticVariation disease BEFREE Immunohistochemical staining demonstrated cells labeled with VIM (+), CD68PGM1 (+), CD34 (-), Actin (-), PCK (-), EMA (-), Desmin (-), SMA (-), S-100 (-), P63 (-), ALK-1 (-), beta-catenia (+), and KI67 (+). 31169683 2019
CUI: C1266121
Disease: Myofibroma (morphologic abnormality)
Myofibroma (morphologic abnormality) 		0.010 Biomarker disease BEFREE 1/2 of the MS cases were positive for desmin; 6/10 of the DF cases were positive for β-catenin, and 2 of the MF cases were positive for ALK-1. 30168888 2019
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		0.010 GeneticVariation disease BEFREE The loss of one ACVRL1 allele is likely to be responsible for the HHT phenotype, while the deletion of the SCN8A gene is likely to be the cause of the mild cognitive disorder. 30389587 2019
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.010 Biomarker disease BEFREE We evaluated whether HHT combined with ATO can systematically kill leukemia stem cells (LSCs) and explored the synergistic effect and molecular mechanism. 31307525 2019
CUI: C1368237
Disease: Solitary Myofibromatosis
Solitary Myofibromatosis 		0.010 Biomarker disease BEFREE 1/2 of the MS cases were positive for desmin; 6/10 of the DF cases were positive for β-catenin, and 2 of the MF cases were positive for ALK-1. 30168888 2019
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome 		0.010 Biomarker disease BEFREE We describe here a new contiguous gene syndrome involving ACVRL1 gene. 30389587 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 Biomarker disease BEFREE Targeting the activin receptor-like kinase 1 (ALK1) and vascular endothelial growth factor (VEGF) pathways may result in more effective angiogenic blockade in patients with hepatocellular carcinoma (HCC). 30352941 2019
CUI: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood 		0.010 Biomarker disease BEFREE In a prior open-label study, the combination of dalantercept, a novel antiangiogenic targeting activin receptor-like kinase 1 (ALK1), plus axitinib was deemed safe and tolerable with a promising efficacy signal in patients with advanced renal cell carcinoma (RCC). 30951193 2019
CUI: C4727069
Disease: Advanced Renal Cell Carcinoma
Advanced Renal Cell Carcinoma 		0.010 Biomarker disease BEFREE In a prior open-label study, the combination of dalantercept, a novel antiangiogenic targeting activin receptor-like kinase 1 (ALK1), plus axitinib was deemed safe and tolerable with a promising efficacy signal in patients with advanced renal cell carcinoma (RCC). 30951193 2019
CUI: C4748670
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		0.010 GeneticVariation disease BEFREE Based on the clinical overlap of CM-AVM2 and HHT, we hypothesized that patients considered clinically suspicious for HHT with no variant detected in an HHT gene (ENG, ACVRL1, or SMAD4) may have an EPHB4 variant. 30760892 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 Biomarker disease BEFREE These data suggest that the CA3 pyramidal neurons may remain responsive to the ALK1 ligands, e.g., BMP9, during initial stages of AD and that ALK1 may constitute a therapeutic target in early and moderate AD. 29843236 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 AlteredExpression disease BEFREE In silico validation revealed significant associations between ACVRL1 expression, disease recurrence, and 1-year survival (P < .05) among all colorectal cancer stages. 29636300 2018
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.010 Biomarker disease BEFREE The vascular specific BMP (bone morphogenetic protein) receptor ALK1 (activin-like kinase receptor type I) and its circulating ligand BMP9 have been shown to be potent vascular quiescence factors, but their role in the context of microvascular permeability associated with hyperglycemia has not been evaluated. 29880487 2018
CUI: C0026936
Disease: Mycoplasma Infections
Mycoplasma Infections 		0.010 Biomarker group BEFREE We took advantage of Acvrl1<sup>+/-</sup> mutant mice that exhibit HHT2 vascular lesions and focused on the neonatal retina and the airway system after Mycoplasma pulmonis infection, as physiological and pathological models of angiogenesis, respectively. 30571259 2018
CUI: C0029182
Disease: orbit (eye disorders)
orbit (eye disorders) 		0.010 Biomarker group BEFREE The good performance of pre-flight imagery indicates that the EMD⁻HHT approach could be highly practical to the on-orbit relative radiometric calibration of the FS-5 RSI sensor and is applicable to other optical sensors. 29933641 2018
CUI: C0032584
Disease: polyps
polyps 		0.010 AlteredExpression phenotype BEFREE In conclusion, an increased expression of ALK1-6 was found on polyp epithelial cells and ligand stimulation appeared to reduce proliferation and local inflammation in polyps. 29367682 2018
CUI: C1397307
Disease: Cardiac fibrosis
Cardiac fibrosis 		0.010 AlteredExpression disease BEFREE Reduced activin receptor-like kinase 1 activity promotes cardiac fibrosis in heart failure. 28820968 2018
CUI: C1562503
Disease: Vein of Galen Malformations
Vein of Galen Malformations 		0.010 Biomarker disease BEFREE Gene mutations have been identified in 2 Mendelian syndromes of which VOGM is an infrequent but associated phenotype: capillary malformation-arteriovenous malformation syndrome ( RASA1) and hereditary hemorrhagic telangiectasia ( ENG and ACVRL1). 29350590 2018
CUI: C1961121
Disease: Congenital vascular anomaly
Congenital vascular anomaly 		0.010 Biomarker group BEFREE Acvrl1<sup>+/-</sup> embryonic stem cell lines recapitulated the vascular anomalies in Acvrl1<sup>+/-</sup> (HHT2) mice. 30571259 2018