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
T 0.900 CausalMutation CLINVAR
dbSNP: rs121912679
rs121912679
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
T 0.840 CausalMutation CLINVAR
dbSNP: rs387906589
rs387906589
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
T 0.820 CausalMutation CLINVAR
dbSNP: rs387906588
rs387906588
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
T 0.800 CausalMutation CLINVAR
dbSNP: rs387906588
rs387906588
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
A 0.800 CausalMutation CLINVAR
dbSNP: rs387906590
rs387906590
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
G 0.800 CausalMutation CLINVAR
dbSNP: rs387906591
rs387906591
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
A 0.800 CausalMutation CLINVAR
dbSNP: rs797045135
rs797045135
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
G 0.720 CausalMutation CLINVAR
dbSNP: rs863224846
rs863224846
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
C 0.710 GeneticVariation CLINVAR
dbSNP: rs121912680
rs121912680
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
G 0.700 CausalMutation CLINVAR
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 UNIPROT 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 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 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 Fibrodysplasia ossificans progressiva (FOP) patients carry a missense mutation in ACVR1 [617G > A (R206H)] that leads to hyperactivation of BMP-SMAD signaling. 27794120 2016
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE Fibrodysplasia ossificans progressiva (FOP) patients carry a missense mutation in ACVR1 [617G > A (R206H)] that leads to hyperactivation of BMP-SMAD signaling. 27794120 2016
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 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 A recurrent mutation c.617G>A in the ACVR1 gene causes fibrodysplasia ossificans progressiva in two Chinese patients. 19300893 2009
dbSNP: rs121912679
rs121912679
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.840 GeneticVariation UNIPROT A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. 16642017 2006
dbSNP: rs387906589
rs387906589
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.820 GeneticVariation UNIPROT A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. 16642017 2006
dbSNP: rs387906588
rs387906588
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.800 GeneticVariation UNIPROT A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. 16642017 2006
dbSNP: rs387906590
rs387906590
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.800 GeneticVariation UNIPROT A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. 16642017 2006
dbSNP: rs387906591
rs387906591
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.800 GeneticVariation UNIPROT A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. 16642017 2006
dbSNP: rs387906589
rs387906589
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0000772
Disease:
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. 16642017 2006