ACVR1, activin A receptor type 1, 90

N. diseases: 144; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE However, we found that the engineered ACVR1(Q207D-c.a.) is significantly more active than the classic FOP mutation ACVR1(R206H) when overexpressed in chicken limbs and in differentiation assays of chondrogenesis, osteogenesis and myogenesis. 24852373 2014
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE ALK2 R206H mutation linked to fibrodysplasia ossificans progressiva confers constitutive activity to the BMP type I receptor and sensitizes mesenchymal cells to BMP-induced osteoblast differentiation and bone formation. 19929436 2010
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE FOP has been shown to result from a point mutation (c.617G>A) in the ACVR1 gene in almost all patients reported. 19330033 2009
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE A recurrent mutation c.617G>A in the ACVR1 gene causes fibrodysplasia ossificans progressiva in two Chinese patients. 19300893 2009
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE A 617G > A (R206H) mutation of the activin A type 1 receptor gene (ACVR1) has been found in all previously reported patients with FOP. 18203193 2008
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE We found that the Acvr1 R206H mutation caused increased BMP signaling in posttraumatic FOP lesions and early divergence from the normal skeletal muscle repair program with elevated and prolonged immune cell infiltration. 28986986 2018
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE Gene transfer of Smad7 or inhibition of type I receptors with dorsomorphin may represent strategies for blocking the activity induced by ALK2(R206H) in FOP. 18684712 2009
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation 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
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE The 617G>A (R206H) mutation in the activin receptor type IA (ACVR1) gene has been identified in all examined individuals with FOP of various ethnic groups, including Caucasian and Chinese descents. 17351709 2007
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE We mapped FOP to chromosome 2q23-24 by linkage analysis and identified an identical heterozygous mutation (617G --> A; R206H) in the glycine-serine (GS) activation domain of ACVR1, a BMP type I receptor, in all affected individuals examined. 16642017 2006
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE FOP is caused by a recurrent heterozygous activating mutation (c.617G>A; R206H) of Activin receptor type IA/Activin-like kinase-2 (ACVR1/ALK2), a bone morphogenetic protein (BMP) type I receptor that occurs in all classically affected individuals. 22011642 2012
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE Most patients with fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder of heterotopic ossification, have the same causative mutation in ACVR1, R206H. 29097342 2018
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE We generated human induced pluripotent stem cells (hiPSCs) from FOP patients with the ALK2 R206H mutation. 26626181 2015
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE Overall, our ES cells are useful for studying the molecular mechanisms of heterotopic ossification in FOP in vitro and for developing novel inhibitors of chondrogenesis induced by mutant ALK2(R206H) associated with FOP. 25446088 2014
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE The activities of ALK2(L196P) were higher than those of ALK2(G356D), another mutant ALK2 allele found in patients with FOP and were equivalent to those of ALK2(R206H), a typical mutation found in patients with FOP. 21377447 2011
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE In addition, an RAR-γ agonist blocked heterotopic ossification in transgenic mice expressing activin receptor-like kinase-2 (ALK2) Q207D, a constitutively active form of the receptor that is related to ALK2 R206H found in individuals with fibrodysplasia ossificans progressiva. 21460849 2011
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE Fibrodysplasia ossificans progressiva is characterized by extensive ossification within muscle tissues, and its molecular pathogenesis is responsible for the constitutively activating mutation (R206H) of the bone morphogenetic protein type 1 receptor, activin-like kinase 2 (ALK2). 24798338 2014
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE All familial and sporadic cases with a classic clinical presentation of FOP carry a gain-of-function mutation (R206H; c.617 G > A) in ACVR1, a cell surface receptor that mediates bone morphogenetic protein (BMP) signaling. 31107558 2019
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE Ninety-seven percent of FOP patients (70/72 cases) had the canonical c.617G>A (p.R206H) mutation, while 3% of FOP patients (2/72 cases) had variant mutations in ACVR1/ALK2. 24051199 2013
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE She underwent whole-exome sequencing (WES) as part of the FORGE study to identify the gene for infantile myofibromatosis; however a de novo dominant mutation in ACVR1 (NM_001105.4:c.617G>A) revised the diagnosis to FOP. 25899773 2015
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE The human disease fibrodysplasia ossificans progressiva (FOP) is a rare and highly disabling disorder of extensive heterotopic bone growth that is caused by a point mutation (R206H) in the activation domain of Alk2, a BMP (bone morphogenic protein) type 1 receptor. 31376533 2019
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE The most common recurrent allele c.617 G>A; p.R206H is also the most common in Indian patients with FOP. 26058333 2015
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation 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
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE A recurrent activating mutation (c.617G→A; R206H) of activin receptor-like kinase 2 (ACVR1/ALK2), a BMP type I receptor, has been shown as the main cause of FOP. 23861958 2013
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE Activating mutations of ALK2 containing the R206 to H mutation, are present in 95% in the rare autosomal genetic disease fibrodysplasia ossificans progressiva (FOP), which leads to the development of ectopic bone formation in muscle. 28847510 2017