rs387906589, ACVR1

N. diseases: 3
Disease: Fibrodysplasia Ossificans Progressiva ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Fibrodysplasia Ossificans Progressiva
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
0.820 GeneticVariation CLINVAR Structure of the bone morphogenetic protein receptor ALK2 and implications for fibrodysplasia ossificans progressiva. 22977237 2012
Fibrodysplasia Ossificans Progressiva
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
0.820 GeneticVariation BEFREE One 21-year-old woman with a variant FOP phenotype had the previously reported c.983G> A mutation (p.G328E). 19796185 2010
Fibrodysplasia Ossificans Progressiva
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
0.820 GeneticVariation CLINVAR Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. 19085907 2009
Fibrodysplasia Ossificans Progressiva
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
0.820 GeneticVariation BEFREE We present here evidence for two further unique mutations (c.605G>T and c.983G>A) in this gene in two FOP patients with some atypical digit abnormalities and other clinical features. 19330033 2009
Fibrodysplasia Ossificans Progressiva
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
0.820 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
Fibrodysplasia Ossificans Progressiva
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
0.820 GeneticVariation UNIPROT We present here evidence for two further unique mutations (c.605G>T and c.983G>A) in this gene in two FOP patients with some atypical digit abnormalities and other clinical features. 19330033 2009
Fibrodysplasia Ossificans Progressiva
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
Fibrodysplasia Ossificans Progressiva
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
0.820 CausalMutation CLINVAR