ACVR1, activin A receptor type 1, 90

N. diseases: 144; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening 		0.100 Biomarker phenotype HPO
CUI: C1849311
Disease: Short 1st metacarpal
Short 1st metacarpal 		0.100 Biomarker phenotype HPO
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 Biomarker disease HPO
CUI: C1851129
Disease: Progressive cervical vertebral spine fusion
Progressive cervical vertebral spine fusion 		0.100 Biomarker phenotype HPO
CUI: C1851130
Disease: Small cervical vertebral bodies
Small cervical vertebral bodies 		0.100 Biomarker phenotype HPO
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		0.100 Biomarker phenotype HPO
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		0.100 Biomarker phenotype HPO
CUI: C1865992
Disease: Short hallux
Short hallux 		0.100 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
CUI: C4023094
Disease: Ectopic ossification in ligament tissue
Ectopic ossification in ligament tissue 		0.100 Biomarker disease HPO
CUI: C4023095
Disease: Ectopic ossification in tendon tissue
Ectopic ossification in tendon tissue 		0.100 Biomarker phenotype HPO
CUI: C4023096
Disease: Ectopic ossification in muscle tissue
Ectopic ossification in muscle tissue 		0.100 Biomarker phenotype HPO
CUI: C4024079
Disease: Aplasia/Hypoplasia of the phalanges of the hallux
Aplasia/Hypoplasia of the phalanges of the hallux 		0.100 Biomarker phenotype HPO
CUI: C4024082
Disease: Abnormality of the first metatarsal bone
Abnormality of the first metatarsal bone 		0.100 Biomarker disease HPO
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.080 Biomarker group BEFREE <i>ACVR1</i> is linked to different pathologies, including cardiac malformations and alterations in the reproductive system. 31683698 2019
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		0.040 Biomarker group BEFREE 8p12 stem cell myeloproliferative disorder: the FOP-fibroblast growth factor receptor 1 fusion protein of the t(6;8) translocation induces cell survival mediated by mitogen-activated protein kinase and phosphatidylinositol 3-kinase/Akt/mTOR pathways. 11689702 2001
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.030 Biomarker disease BEFREE 8p12 stem cell myeloproliferative disorder: the FOP-fibroblast growth factor receptor 1 fusion protein of the t(6;8) translocation induces cell survival mediated by mitogen-activated protein kinase and phosphatidylinositol 3-kinase/Akt/mTOR pathways. 11689702 2001
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva 		1.000 GeneticVariation disease BEFREE FOP has been shown to result from a point mutation (c.617G>A) in the ACVR1 gene in almost all patients reported. 19330033 2009
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva 		1.000 GeneticVariation disease UNIPROT FOP has been shown to result from a point mutation (c.617G>A) in the ACVR1 gene in almost all patients reported. 19330033 2009
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva 		1.000 GeneticVariation disease BEFREE FOP is caused by a recurrent heterozygous activating mutation (c.617G>A; R206H) of Activin receptor type IA/Activin-like kinase-2 (ACVR1/ALK2), a bone morphogenetic protein (BMP) type I receptor that occurs in all classically affected individuals. 22011642 2012
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva 		1.000 GeneticVariation disease BEFREE Fibrodysplasia ossificans progressiva (FOP) is a rare, disabling, genetic disease of progressive heterotopic endochondral ossification (HEO) enabled by missense mutations that promiscuously and provisionally activate ACVR1/ALK2, a bone morphogenetic protein (BMP) type I receptor, in all affected individuals. 22082359 2011
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva 		1.000 GeneticVariation disease BEFREE Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder of progressive heterotopic ossification (HO) caused by a recurrent activating mutation of ACVR1/ALK2, a bone morphogenetic protein (BMP) type I receptor. 22736080 2012
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva 		1.000 GeneticVariation disease BEFREE FOP-associated mutations in the BMP receptor ALK2 reduce binding of the inhibitor FKBP12 and promote leaky signaling in the absence of ligand. 22977237 2012
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva 		1.000 GeneticVariation disease BEFREE FOP has been associated with a specific point mutation on the ACVR1 (Activin A receptor type I) gene. 23260810 2013
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva 		1.000 GeneticVariation disease BEFREE Fibrodysplasia ossificans progressiva is characterized by extensive ossification within muscle tissues, and its molecular pathogenesis is responsible for the constitutively activating mutation (R206H) of the bone morphogenetic protein type 1 receptor, activin-like kinase 2 (ALK2). 24798338 2014