Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
Fibrodysplasia Ossificans Progressiva
1.000 GeneticVariation CLINVAR Structure of the bone morphogenetic protein receptor ALK2 and implications for fibrodysplasia ossificans progressiva. 22977237

2012

Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
Fibrodysplasia Ossificans Progressiva
1.000 GeneticVariation CLINVAR While the recurrent c.617G>A; p.R206H mutation was found in all cases of classic FOP and most cases of FOP-plus, novel ACVR1 mutations occur in the FOP variants and two cases of FOP-plus. 19085907

2009

Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
Fibrodysplasia Ossificans Progressiva
1.000 CausalMutation CLINVAR