ACVR1, activin A receptor type 1, 90

N. diseases: 144; N. variants: 15
Disease: Fibrodysplasia Ossificans Progressiva ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045135
rs797045135
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva 		0.720 GeneticVariation BEFREE This second report of ACVR1 (587T>C) mutation worldwide is particularly meaningful in that it highlights the difference between clinical symptoms of the first reported patient with ACVR1 (587T>C) mutation and those of classic FOP. 24259422 2014
dbSNP: rs797045135
rs797045135
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva 		0.720 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: rs797045135
rs797045135
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva 		G 0.720 CausalMutation CLINVAR