ACVR1, activin A receptor type 1, 90

N. diseases: 144; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1834129
Disease: Abnormal vertebral morphology
Abnormal vertebral morphology
0.100 Biomarker phenotype HPO
Abnormality of cardiovascular system morphology
0.010 Biomarker disease BEFREE Our analyses revealed 28 candidate variants in 27 genes, including 17 genes not previously associated with a human CVM disorder, and revealed diverse patterns of inheritance among LOF carriers, including 9 confirmed de novo variants in both novel and newly described human CVM candidate genes (ACVR1, JARID2, NR2F2, PLRG1, SMURF1) as well as established syndromic CVM genes (KMT2D, NF1, TBX20, ZEB2). 29089047 2017
Abnormality of the first metatarsal bone
0.100 Biomarker disease HPO
CUI: C0158458
Disease: Acquired hallux valgus
Acquired hallux valgus
0.010 GeneticVariation disease BEFREE Congenital bilateral hallux valgus with associated absence or fusion of the interphalangeal joint is a classic diagnostic feature of fibrodysplasia ossificans progressiva (FOP), a human genetic disease of extra-skeletal bone formation caused in nearly all cases by a gain-of-function mutation in Activin A Receptor I/Activin-like Kinase 2 (ACVR1/ALK2), which encodes a bone morphogenetic protein (BMP) Type 1 receptor. 28473268 2017
CUI: C0242488
Disease: Acute Lung Injury
Acute Lung Injury
0.300 Biomarker disease CTD_human This approach identified several candidate genes, including Acvr1, associated with increased susceptibility to acute lung injury in mice. 21297076 2011
CUI: C0206681
Disease: Adenocarcinoma, Clear Cell
Adenocarcinoma, Clear Cell
0.010 Biomarker disease BEFREE Two cell lines, SKR1 and NKK1, were established from renal cell carcinomas (RCC) with different histopathologic characteristics: SKR1 from grade 3, solid type, pleomorphic cell type carcinoma in a 66-year-old male and NKK1 from grade 2, alveolar type, clear cell carcinoma in a 49-year-old female. 9183637 1996
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma
0.010 AlteredExpression disease BEFREE Both type I and type II activin receptor (ActR-I, ActR-IB and ActR-II) mRNA expression was also detectable in the pheochromocytoma tissues. 10810314 2000
CUI: C0002170
Disease: Alopecia
Alopecia
0.100 Biomarker disease HPO
CUI: C0334579
Disease: Anaplastic astrocytoma
Anaplastic astrocytoma
0.300 Biomarker disease CTD_human Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma. 24705250 2014
Anaplastic Large Cell Lymphoma, ALK-Positive
0.010 Biomarker disease BEFREE Here, we describe a novel truncated form of the ALK transcript with in-frame skipping through exons 2 to 17 (ALKΔ2-17) in anaplastic large cell lymphoma, ALK-positive. 28665006 2018
CUI: C0002871
Disease: Anemia
Anemia
0.100 Biomarker disease HPO
Aplasia/Hypoplasia of the phalanges of the hallux
0.100 Biomarker phenotype HPO
CUI: C0022408
Disease: Arthropathy
Arthropathy
0.010 GeneticVariation group BEFREE The effects of ACVR1 mutation on the normotopic skeletons of individuals who have FOP extend beyond malformation of the great toes and include both morphological defects and developmental arthropathy. 31655222 2020
CUI: C0004096
Disease: Asthma
Asthma
0.010 AlteredExpression disease LHGDN Compared with the normal airway, there was significant down-regulation of ALK-2 (P = 0.001), ALK-6 (P = 0.0009), and BMPRII (P = 0.009) expression in asthma. 18292470 2008
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.320 GeneticVariation disease BEFREE K27M-H3.1 and ACVR1 mutations as well as ALT phenotype were only found in WHO grade III-IV astrocytomas, while PIK3CA mutations and PDGFRA gains/amplifications were found in WHO grade II-IV astrocytomas. 25047029 2014
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.320 Biomarker disease CTD_human Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma. 24705250 2014
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.320 GeneticVariation disease BEFREE Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma. 24705250 2014
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
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
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect
0.010 GeneticVariation disease BEFREE In vivo analysis of zebrafish embryos injected with ALK2 L343P RNA revealed improper atrioventricular canal formation. 19506109 2009
CUI: C1266129
Disease: Atypical Lipoma
Atypical Lipoma
0.010 GeneticVariation disease BEFREE K27M-H3.1 and ACVR1 mutations as well as ALT phenotype were only found in WHO grade III-IV astrocytomas, while PIK3CA mutations and PDGFRA gains/amplifications were found in WHO grade II-IV astrocytomas. 25047029 2014
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma
0.100 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.330 AlteredExpression disease BEFREE We performed a systematic expression survey of BMPs and their receptors in breast cancer. mRNA expression was studied of seven BMP ligands (BMP2-BMP8) and six receptors (ACVR1, BMPR1A, BMPR1B, BMPR2, ACVR2A, and ACVR2B) that specifically mediate BMP signals. 17004110 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.330 Biomarker disease BEFREE In conclusion, our findings revealed functional and mechanistic links between miR-384 and ACVR1 in the progression of breast cancer. miR-384 not only plays an important role in the progression of breast cancer, but has promise as a potential therapeutic target for breast cancer especially for TNBC. 29693185 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.330 Biomarker disease CTD_human Genetic variation in bone morphogenetic proteins and breast cancer risk in hispanic and non-hispanic white women: The breast cancer health disparities study. 23180569 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.330 Biomarker disease BEFREE These observations indicate that ALK2 is a potential therapeutic agent for the treatment of breast cancer. 28075462 2017