Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912679
rs121912679
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.840 GeneticVariation BEFREE Strikingly, these somatic mutations (encoding p.Arg206His, p.Arg258Gly, p.Gly328Glu, p.Gly328Val, p.Gly328Trp and p.Gly356Asp substitutions) have not been reported previously in cancer but are identical to mutations found in the germ line of individuals with the congenital childhood developmental disorder fibrodysplasia ossificans progressiva (FOP) and have been shown to constitutively activate the BMP-TGF-β signaling pathway. 24705252 2014
dbSNP: rs121912679
rs121912679
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.840 GeneticVariation BEFREE Disease-causing allele-specific silencing against the ALK2 mutants, R206H and G356D, in fibrodysplasia ossificans progressiva. 22130450 2012
dbSNP: rs121912679
rs121912679
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.840 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: rs121912679
rs121912679
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.840 GeneticVariation UNIPROT Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. 19085907 2009
dbSNP: rs121912679
rs121912679
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.840 GeneticVariation UNIPROT Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients. 19330033 2009
dbSNP: rs121912679
rs121912679
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.840 GeneticVariation BEFREE A unique mutation of ALK2, G356D, found in a patient with fibrodysplasia ossificans progressiva is a moderately activated BMP type I receptor. 18952055 2008
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: rs121912679
rs121912679
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
T 0.840 CausalMutation CLINVAR