ACVR1, activin A receptor type 1, 90

N. diseases: 144; N. variants: 15
Disease: Multiple congenital anomalies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906589
rs387906589
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Clinical and Genetic Analysis of Fibrodysplasia Ossificans Progressiva: A Case Report and Literature Review. 26436010 2015
dbSNP: rs387906589
rs387906589
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation 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
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
dbSNP: rs387906589
rs387906589
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Fibrodysplasia (myositis) ossificans progressiva: clinicopathological features and natural history. 8758048 1996