Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	90
Gene name	Activin A receptor type 1
Gene symbol	ACVR1
Synonyms (NCBI Gene)	ACTRIACVR1AACVRLK2ALK2FOPSKR1TSRI
Chromosome	2
Chromosome location	2q24.1
Summary	Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which i

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121912678	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs121912679	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912680	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs387906588	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs387906589	C>A,T	Pathogenic, other, likely-pathogenic	Coding sequence variant, missense variant
rs387906590	C>G	Pathogenic	Coding sequence variant, missense variant
rs387906591	C>A	Pathogenic	Coding sequence variant, missense variant
rs797045135	A>G	Pathogenic	Coding sequence variant, missense variant
rs863224846	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant, synonymous variant
rs1057519875	C>A	Likely-pathogenic	Missense variant, coding sequence variant

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Show/Hide all (244)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000216	hsa-miR-197-3p	MicroarrayqRT-PCR	16822819
MIRT006946	hsa-miR-148a-3p	Luciferase reporter assay	22408438
MIRT007141	hsa-miR-130a-3p	qRT-PCR	23418453
MIRT018362	hsa-miR-335-5p	Microarray	18185580
MIRT020339	hsa-miR-130b-3p	Sequencing	20371350
MIRT021192	hsa-miR-186-5p	Sequencing	20371350
MIRT031253	hsa-miR-19b-3p	Sequencing	20371350
MIRT054060	hsa-miR-148b-3p	Luciferase reporter assayqRT-PCR	23227223
MIRT054060	hsa-miR-148b-3p	Luciferase reporter assayqRT-PCR	23227223
MIRT054061	hsa-miR-365a-3p	Luciferase reporter assayqRT-PCR	23227223
MIRT054061	hsa-miR-365a-3p	Luciferase reporter assayqRT-PCR	23227223
MIRT054062	hsa-miR-26a-5p	Luciferase reporter assayqRT-PCR	23227223
MIRT054123	hsa-let-7b-5p	Luciferase reporter assayMicroarrayqRT-PCR	22995917
MIRT689094	hsa-miR-4310	HITS-CLIP	23313552
MIRT689093	hsa-miR-7157-5p	HITS-CLIP	23313552
MIRT689092	hsa-miR-1207-3p	HITS-CLIP	23313552
MIRT689091	hsa-miR-1972	HITS-CLIP	23313552
MIRT689090	hsa-miR-4650-5p	HITS-CLIP	23313552
MIRT689089	hsa-miR-338-3p	HITS-CLIP	23313552
MIRT689088	hsa-miR-4638-3p	HITS-CLIP	23313552
MIRT689087	hsa-miR-7977	HITS-CLIP	23313552
MIRT549432	hsa-miR-384	PAR-CLIP	21572407
MIRT549431	hsa-miR-3133	PAR-CLIP	21572407
MIRT021192	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT549430	hsa-miR-5197-3p	PAR-CLIP	21572407
MIRT549429	hsa-miR-95-5p	PAR-CLIP	21572407
MIRT549427	hsa-miR-6080	PAR-CLIP	21572407
MIRT549428	hsa-miR-4671-3p	PAR-CLIP	21572407
MIRT549426	hsa-miR-5571-3p	PAR-CLIP	21572407
MIRT549425	hsa-miR-7975	PAR-CLIP	21572407
MIRT549437	hsa-miR-3666	PAR-CLIP	21572407
MIRT549436	hsa-miR-4295	PAR-CLIP	21572407
MIRT549435	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT549434	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT007141	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT020339	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT549433	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT549432	hsa-miR-384	PAR-CLIP	21572407
MIRT549431	hsa-miR-3133	PAR-CLIP	21572407
MIRT021192	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT549430	hsa-miR-5197-3p	PAR-CLIP	21572407
MIRT549429	hsa-miR-95-5p	PAR-CLIP	21572407
MIRT549427	hsa-miR-6080	PAR-CLIP	21572407
MIRT549428	hsa-miR-4671-3p	PAR-CLIP	21572407
MIRT549426	hsa-miR-5571-3p	PAR-CLIP	21572407
MIRT549425	hsa-miR-7975	PAR-CLIP	21572407
MIRT006946	hsa-miR-148a-3p	Luciferase reporter assayqRT-PCR	25271001
MIRT006946	hsa-miR-148a-3p	Luciferase reporter assayqRT-PCR	25271001
MIRT689094	hsa-miR-4310	HITS-CLIP	23313552
MIRT689093	hsa-miR-7157-5p	HITS-CLIP	23313552
MIRT689092	hsa-miR-1207-3p	HITS-CLIP	23313552
MIRT689091	hsa-miR-1972	HITS-CLIP	23313552
MIRT689090	hsa-miR-4650-5p	HITS-CLIP	23313552
MIRT689089	hsa-miR-338-3p	HITS-CLIP	23313552
MIRT689088	hsa-miR-4638-3p	HITS-CLIP	23313552
MIRT689087	hsa-miR-7977	HITS-CLIP	23313552
MIRT549432	hsa-miR-384	PAR-CLIP	21572407
MIRT549431	hsa-miR-3133	PAR-CLIP	21572407
MIRT021192	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT549430	hsa-miR-5197-3p	PAR-CLIP	21572407
MIRT549429	hsa-miR-95-5p	PAR-CLIP	21572407
MIRT549427	hsa-miR-6080	PAR-CLIP	21572407
MIRT549428	hsa-miR-4671-3p	PAR-CLIP	21572407
MIRT549426	hsa-miR-5571-3p	PAR-CLIP	21572407
MIRT549425	hsa-miR-7975	PAR-CLIP	21572407
MIRT549437	hsa-miR-3666	PAR-CLIP	21572407
MIRT549436	hsa-miR-4295	PAR-CLIP	21572407
MIRT549435	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT549434	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT007141	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT020339	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT549433	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT549432	hsa-miR-384	PAR-CLIP	21572407
MIRT549431	hsa-miR-3133	PAR-CLIP	21572407
MIRT021192	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT549430	hsa-miR-5197-3p	PAR-CLIP	21572407
MIRT549429	hsa-miR-95-5p	PAR-CLIP	21572407
MIRT549427	hsa-miR-6080	PAR-CLIP	21572407
MIRT549428	hsa-miR-4671-3p	PAR-CLIP	21572407
MIRT549426	hsa-miR-5571-3p	PAR-CLIP	21572407
MIRT549425	hsa-miR-7975	PAR-CLIP	21572407
MIRT764851	hsa-miR-1237	CLIP-seq
MIRT764852	hsa-miR-1248	CLIP-seq
MIRT764853	hsa-miR-4762-5p	CLIP-seq
MIRT764854	hsa-miR-549	CLIP-seq
MIRT764855	hsa-miR-1184	CLIP-seq
MIRT764856	hsa-miR-1205	CLIP-seq
MIRT764857	hsa-miR-1225-5p	CLIP-seq
MIRT764851	hsa-miR-1237	CLIP-seq
MIRT764858	hsa-miR-1246	CLIP-seq
MIRT764852	hsa-miR-1248	CLIP-seq
MIRT764859	hsa-miR-128	CLIP-seq
MIRT764860	hsa-miR-1293	CLIP-seq
MIRT764861	hsa-miR-203	CLIP-seq
MIRT764862	hsa-miR-2052	CLIP-seq
MIRT764863	hsa-miR-2110	CLIP-seq
MIRT764864	hsa-miR-27a	CLIP-seq
MIRT764865	hsa-miR-27b	CLIP-seq
MIRT764866	hsa-miR-2964a-5p	CLIP-seq
MIRT764867	hsa-miR-3117-5p	CLIP-seq
MIRT764868	hsa-miR-3134	CLIP-seq
MIRT764869	hsa-miR-3150a-3p	CLIP-seq
MIRT764870	hsa-miR-3158-5p	CLIP-seq
MIRT764871	hsa-miR-330-3p	CLIP-seq
MIRT764872	hsa-miR-365	CLIP-seq
MIRT764873	hsa-miR-3652	CLIP-seq
MIRT764874	hsa-miR-4260	CLIP-seq
MIRT764875	hsa-miR-4302	CLIP-seq
MIRT764876	hsa-miR-4312	CLIP-seq
MIRT764877	hsa-miR-4320	CLIP-seq
MIRT764878	hsa-miR-4419a	CLIP-seq
MIRT764879	hsa-miR-4430	CLIP-seq
MIRT764880	hsa-miR-4474-5p	CLIP-seq
MIRT764881	hsa-miR-4483	CLIP-seq
MIRT764882	hsa-miR-4505	CLIP-seq
MIRT764883	hsa-miR-4510	CLIP-seq
MIRT764884	hsa-miR-4643	CLIP-seq
MIRT764885	hsa-miR-4717-3p	CLIP-seq
MIRT764886	hsa-miR-4728-5p	CLIP-seq
MIRT764853	hsa-miR-4762-5p	CLIP-seq
MIRT764887	hsa-miR-513a-5p	CLIP-seq
MIRT764888	hsa-miR-514	CLIP-seq
MIRT764889	hsa-miR-514b-3p	CLIP-seq
MIRT764890	hsa-miR-526b	CLIP-seq
MIRT764891	hsa-miR-593	CLIP-seq
MIRT764892	hsa-miR-876-3p	CLIP-seq
MIRT764857	hsa-miR-1225-5p	CLIP-seq
MIRT764860	hsa-miR-1293	CLIP-seq
MIRT764862	hsa-miR-2052	CLIP-seq
MIRT764866	hsa-miR-2964a-5p	CLIP-seq
MIRT1925345	hsa-miR-3611	CLIP-seq
MIRT764872	hsa-miR-365	CLIP-seq
MIRT764873	hsa-miR-3652	CLIP-seq
MIRT1925346	hsa-miR-3662	CLIP-seq
MIRT1925347	hsa-miR-3977	CLIP-seq
MIRT764879	hsa-miR-4430	CLIP-seq
MIRT764881	hsa-miR-4483	CLIP-seq
MIRT764882	hsa-miR-4505	CLIP-seq
MIRT764884	hsa-miR-4643	CLIP-seq
MIRT764885	hsa-miR-4717-3p	CLIP-seq
MIRT1925348	hsa-miR-4799-5p	CLIP-seq
MIRT1925349	hsa-miR-518a-5p	CLIP-seq
MIRT1925350	hsa-miR-527	CLIP-seq
MIRT1925351	hsa-miR-570	CLIP-seq
MIRT764892	hsa-miR-876-3p	CLIP-seq
MIRT764857	hsa-miR-1225-5p	CLIP-seq
MIRT764858	hsa-miR-1246	CLIP-seq
MIRT764859	hsa-miR-128	CLIP-seq
MIRT764860	hsa-miR-1293	CLIP-seq
MIRT2166845	hsa-miR-130a	CLIP-seq
MIRT2166846	hsa-miR-130b	CLIP-seq
MIRT2166847	hsa-miR-155	CLIP-seq
MIRT2166848	hsa-miR-186	CLIP-seq
MIRT764862	hsa-miR-2052	CLIP-seq
MIRT764864	hsa-miR-27a	CLIP-seq
MIRT764865	hsa-miR-27b	CLIP-seq
MIRT764866	hsa-miR-2964a-5p	CLIP-seq
MIRT2166849	hsa-miR-301a	CLIP-seq
MIRT2166850	hsa-miR-301b	CLIP-seq
MIRT764868	hsa-miR-3134	CLIP-seq
MIRT764871	hsa-miR-330-3p	CLIP-seq
MIRT1925345	hsa-miR-3611	CLIP-seq
MIRT764872	hsa-miR-365	CLIP-seq
MIRT764873	hsa-miR-3652	CLIP-seq
MIRT2166851	hsa-miR-4252	CLIP-seq
MIRT764877	hsa-miR-4320	CLIP-seq
MIRT764878	hsa-miR-4419a	CLIP-seq
MIRT764879	hsa-miR-4430	CLIP-seq
MIRT764881	hsa-miR-4483	CLIP-seq
MIRT764882	hsa-miR-4505	CLIP-seq
MIRT764883	hsa-miR-4510	CLIP-seq
MIRT2166852	hsa-miR-454	CLIP-seq
MIRT764884	hsa-miR-4643	CLIP-seq
MIRT764885	hsa-miR-4717-3p	CLIP-seq
MIRT764886	hsa-miR-4728-5p	CLIP-seq
MIRT764887	hsa-miR-513a-5p	CLIP-seq
MIRT1925349	hsa-miR-518a-5p	CLIP-seq
MIRT1925350	hsa-miR-527	CLIP-seq
MIRT764892	hsa-miR-876-3p	CLIP-seq
MIRT764857	hsa-miR-1225-5p	CLIP-seq
MIRT764873	hsa-miR-3652	CLIP-seq
MIRT764879	hsa-miR-4430	CLIP-seq
MIRT764882	hsa-miR-4505	CLIP-seq
MIRT764884	hsa-miR-4643	CLIP-seq
MIRT764885	hsa-miR-4717-3p	CLIP-seq
MIRT764851	hsa-miR-1237	CLIP-seq
MIRT764852	hsa-miR-1248	CLIP-seq
MIRT2469310	hsa-miR-1271	CLIP-seq
MIRT2166845	hsa-miR-130a	CLIP-seq
MIRT2166846	hsa-miR-130b	CLIP-seq
MIRT2469311	hsa-miR-132	CLIP-seq
MIRT2469312	hsa-miR-148a	CLIP-seq
MIRT2469313	hsa-miR-148b	CLIP-seq
MIRT2469314	hsa-miR-152	CLIP-seq
MIRT2469315	hsa-miR-182	CLIP-seq
MIRT2469316	hsa-miR-193a-5p	CLIP-seq
MIRT2469317	hsa-miR-194	CLIP-seq
MIRT764862	hsa-miR-2052	CLIP-seq
MIRT2469318	hsa-miR-212	CLIP-seq
MIRT2166849	hsa-miR-301a	CLIP-seq
MIRT2166850	hsa-miR-301b	CLIP-seq
MIRT2469319	hsa-miR-31	CLIP-seq
MIRT2469320	hsa-miR-323-3p	CLIP-seq
MIRT2469321	hsa-miR-337-3p	CLIP-seq
MIRT2469322	hsa-miR-4259	CLIP-seq
MIRT2469323	hsa-miR-4282	CLIP-seq
MIRT2469324	hsa-miR-4452	CLIP-seq
MIRT2166852	hsa-miR-454	CLIP-seq
MIRT764853	hsa-miR-4762-5p	CLIP-seq
MIRT2469325	hsa-miR-4776-3p	CLIP-seq
MIRT764854	hsa-miR-549	CLIP-seq
MIRT2469326	hsa-miR-802	CLIP-seq
MIRT2469327	hsa-miR-96	CLIP-seq
MIRT764857	hsa-miR-1225-5p	CLIP-seq
MIRT2469310	hsa-miR-1271	CLIP-seq
MIRT2166845	hsa-miR-130a	CLIP-seq
MIRT2166846	hsa-miR-130b	CLIP-seq
MIRT2469311	hsa-miR-132	CLIP-seq
MIRT2469312	hsa-miR-148a	CLIP-seq
MIRT2469313	hsa-miR-148b	CLIP-seq
MIRT2469314	hsa-miR-152	CLIP-seq
MIRT2469315	hsa-miR-182	CLIP-seq
MIRT2469316	hsa-miR-193a-5p	CLIP-seq
MIRT2469317	hsa-miR-194	CLIP-seq
MIRT764862	hsa-miR-2052	CLIP-seq
MIRT2469318	hsa-miR-212	CLIP-seq
MIRT2166849	hsa-miR-301a	CLIP-seq
MIRT2166850	hsa-miR-301b	CLIP-seq
MIRT2469319	hsa-miR-31	CLIP-seq
MIRT2469320	hsa-miR-323-3p	CLIP-seq
MIRT2469321	hsa-miR-337-3p	CLIP-seq
MIRT2674356	hsa-miR-346	CLIP-seq
MIRT2469322	hsa-miR-4259	CLIP-seq
MIRT2469323	hsa-miR-4282	CLIP-seq
MIRT764876	hsa-miR-4312	CLIP-seq
MIRT2469324	hsa-miR-4452	CLIP-seq
MIRT2166852	hsa-miR-454	CLIP-seq
MIRT764853	hsa-miR-4762-5p	CLIP-seq
MIRT2469325	hsa-miR-4776-3p	CLIP-seq
MIRT1925349	hsa-miR-518a-5p	CLIP-seq
MIRT1925350	hsa-miR-527	CLIP-seq
MIRT764854	hsa-miR-549	CLIP-seq
MIRT2469326	hsa-miR-802	CLIP-seq
MIRT2469327	hsa-miR-96	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001569	Process	Branching involved in blood vessel morphogenesis	IEA
GO:0001649	Process	Osteoblast differentiation	IDA	34948289
GO:0001649	Process	Osteoblast differentiation	IDA	18436533
GO:0001701	Process	In utero embryonic development	IEA
GO:0001702	Process	Gastrulation with mouth forming second	IEA
GO:0001707	Process	Mesoderm formation	IEA
GO:0001755	Process	Neural crest cell migration	IEA
GO:0002526	Process	Acute inflammatory response	IEA
GO:0003143	Process	Embryonic heart tube morphogenesis	IMP	19506109
GO:0003148	Process	Outflow tract septum morphogenesis	ISS
GO:0003181	Process	Atrioventricular valve morphogenesis	IEA
GO:0003181	Process	Atrioventricular valve morphogenesis	ISS
GO:0003183	Process	Mitral valve morphogenesis	IMP	19506109
GO:0003272	Process	Endocardial cushion formation	IEA
GO:0003272	Process	Endocardial cushion formation	ISS
GO:0003274	Process	Endocardial cushion fusion	IEA
GO:0003274	Process	Endocardial cushion fusion	ISS
GO:0003289	Process	Atrial septum primum morphogenesis	IEA
GO:0003289	Process	Atrial septum primum morphogenesis	IMP	19506109
GO:0003289	Process	Atrial septum primum morphogenesis	ISS
GO:0004672	Function	Protein kinase activity	IDA	19736306
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	12065756
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004675	Function	Transmembrane receptor protein serine/threonine kinase activity	IDA	19506109, 19736306
GO:0004675	Function	Transmembrane receptor protein serine/threonine kinase activity	IEA
GO:0004675	Function	Transmembrane receptor protein serine/threonine kinase activity	NAS	8242742
GO:0005025	Function	Transforming growth factor beta receptor activity, type I	IBA
GO:0005025	Function	Transforming growth factor beta receptor activity, type I	IEA
GO:0005515	Function	Protein binding	IPI	8242742, 8555189, 11266516, 18436533, 21791611, 31483918
GO:0005524	Function	ATP binding	IDA	12065756
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	8242742
GO:0005886	Component	Plasma membrane	IEA
GO:0007178	Process	Cell surface receptor protein serine/threonine kinase signaling pathway	IEA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IBA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IDA	8242742
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IEA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IEA
GO:0007281	Process	Germ cell development	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007369	Process	Gastrulation	IEA
GO:0007498	Process	Mesoderm development	IEA
GO:0007507	Process	Heart development	IBA
GO:0007507	Process	Heart development	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IBA
GO:0009968	Process	Negative regulation of signal transduction	IMP	9884026
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016361	Function	Activin receptor activity, type I	IDA	8242742
GO:0016361	Function	Activin receptor activity, type I	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0017046	Function	Peptide hormone binding	NAS	12702211
GO:0019838	Function	Growth factor binding	IEA
GO:0030154	Process	Cell differentiation	IBA
GO:0030278	Process	Regulation of ossification	IMP	16642017
GO:0030335	Process	Positive regulation of cell migration	IGI	19736306
GO:0030501	Process	Positive regulation of bone mineralization	IMP	18436533
GO:0030509	Process	BMP signaling pathway	IBA
GO:0030509	Process	BMP signaling pathway	IDA	12065756, 18436533
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030509	Process	BMP signaling pathway	IMP	26598555
GO:0030509	Process	BMP signaling pathway	ISS	8653785
GO:0030509	Process	BMP signaling pathway	ISS
GO:0032924	Process	Activin receptor signaling pathway	IDA	19506109
GO:0032924	Process	Activin receptor signaling pathway	IEA
GO:0032924	Process	Activin receptor signaling pathway	IMP	18326817
GO:0032926	Process	Negative regulation of activin receptor signaling pathway	IMP	9884026
GO:0042803	Function	Protein homodimerization activity	IDA	18436533
GO:0045177	Component	Apical part of cell	IEA
GO:0045296	Function	Cadherin binding	IPI	26598555
GO:0045446	Process	Endothelial cell differentiation	IEA
GO:0045597	Process	Positive regulation of cell differentiation	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	IMP	18436533
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	8242742
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	19506109
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	18326817
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046332	Function	SMAD binding	IBA
GO:0046332	Function	SMAD binding	IDA	12065756
GO:0046332	Function	SMAD binding	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048179	Component	Activin receptor complex	IDA	8242742
GO:0048185	Function	Activin binding	IDA	8242742
GO:0048185	Function	Activin binding	IEA
GO:0050431	Function	Transforming growth factor beta binding	IDA	8242742
GO:0050431	Function	Transforming growth factor beta binding	IEA
GO:0051145	Process	Smooth muscle cell differentiation	IEA
GO:0051240	Process	Positive regulation of multicellular organismal process	IEA
GO:0060037	Process	Pharyngeal system development	IEA
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IDA	19506109, 19736306
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IEA
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	ISS
GO:0060412	Process	Ventricular septum morphogenesis	IEA
GO:0060412	Process	Ventricular septum morphogenesis	ISS
GO:0060562	Process	Epithelial tube morphogenesis	IEA
GO:0060923	Process	Cardiac muscle cell fate commitment	IMP	19506109
GO:0061445	Process	Endocardial cushion cell fate commitment	IMP	19506109
GO:0062043	Process	Positive regulation of cardiac epithelial to mesenchymal transition	IEA
GO:0062043	Process	Positive regulation of cardiac epithelial to mesenchymal transition	ISS
GO:0070724	Component	BMP receptor complex	IBA
GO:0071363	Process	Cellular response to growth factor stimulus	IBA
GO:0071773	Process	Cellular response to BMP stimulus	IMP	18326817
GO:0072359	Process	Circulatory system development	IEA
GO:0098821	Function	BMP receptor activity	IDA	12065756
GO:0098821	Function	BMP receptor activity	IEA
GO:1902533	Process	Positive regulation of intracellular signal transduction	IMP	26598555
GO:1990782	Function	Protein tyrosine kinase binding	IPI	26598555
GO:2000017	Process	Positive regulation of determination of dorsal identity	IDA	19506109
GO:2000026	Process	Regulation of multicellular organismal development	IEA
GO:2000134	Process	Negative regulation of G1/S transition of mitotic cell cycle	IMP	9884026
GO:2001237	Process	Negative regulation of extrinsic apoptotic signaling pathway	IMP	9884026

MIM	HGNC	e!Ensembl
102576	171	ENSG00000115170

Q04771

Protein name

Activin receptor type-1 (EC 2.7.11.30) (Activin receptor type I) (ACTR-I) (Activin receptor-like kinase 2) (ALK-2) (Serine/threonine-protein kinase receptor R1) (SKR1) (TGF-B superfamily receptor type I) (TSR-I)

Protein function

Bone morphogenetic protein (BMP) type I receptor that is involved in a wide variety of biological processes, including bone, heart, cartilage, nervous, and reproductive system development and regulation (PubMed:20628059, PubMed:22977237). As a t

PDB

3H9R , 3MTF , 3OOM , 3Q4U , 4BGG , 4C02 , 4DYM , 5OXG , 5OY6 , 5S75 , 5S76 , 5S77 , 5S78 , 5S79 , 5S7A , 5S7B , 5S7C , 5S7D , 5S7E , 5S7F , 5S7G , 5S7H , 5S7I , 5S7J , 5S7K , 5S7L , 5S7M , 5S7N , 5S7O , 5S7P , 5S7Q , 5S7R , 5S7S , 5S7T , 5S7U , 5S7V , 5S7W , 5S7X , 5S7Y , 5S7Z , 5S80 , 5S81 , 5S82 , 5S83 , 5S84 , 5S85 , 5S86 , 5S87 , 5S88 , 5S89 , 5S8A

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01064	Activin_recp	33 → 103	Activin types I and II receptor domain	Domain
PF08515	TGF_beta_GS	179 → 206	Transforming growth factor beta type I GS-motif	Family
PF07714	PK_Tyr_Ser-Thr	208 → 495	Protein tyrosine and serine/threonine kinase	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in normal parenchymal cells, endothelial cells, fibroblasts and tumor-derived epithelial cells. {ECO:0000269|PubMed:8389764}.

Sequence

MVDGVMILPVLIMIALPSPSMEDEKPKVNPKLYMCVCEGLSCGNEDHCEGQQCFSSLSIN
DGFHVYQKGCFQVYEQGKMTCKTPPSPGQAVECCQGDWCNRNITAQLPTKGKSFPGTQNF
HLEVGLIILSVVFAVCLLACLLGVALRKFKRRNQERLNPRDVEYGTIEGLITTNVGDSTL
ADLLDHSCTSGSGSGLPFLVQRTVARQITLLECVGKGRYGEVWRGSWQGENVAVKIFSSR
DEKSWFRETELYNTVMLRHENILGFIASDMTSRHSSTQLWLITHYHEMGSLYDYLQLTTL
DTVSCLRIVLSIASGLAHLHIEIFGTQGKPAIAHRDLKSKNILVKKNGQCCIADLGLAVM
HSQSTNQLDVGNNPRVGTKRYMAPEVLDETIQVDCFDSYKRVDIWAFGLVLWEVARRMVS
NGIVEDYKPPFYDVVPNDPSFEDMRKVVCVDQQRPNIPNRWFSDPTLTSLAKLMKECWYQ
NPSARLTALRIKKTLTKIDNSLDKLKTDC

Sequence length

509

Interactions

View interactions

	KEGG
	Cytokine-cytokine receptor interaction Hormone signaling TGF-beta signaling pathway Signaling pathways regulating pluripotency of stem cells Fluid shear stress and atherosclerosis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ACVR1-related disorder	Pathogenic	rs121912678	RCV003904851	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diffuse midline glioma, H3 K27M-mutant	Pathogenic; Likely pathogenic	rs121912678, rs121912679, rs387906589	RCV006253675 RCV006253676 RCV006253681	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Pathogenic	rs121912678	RCV006253674	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ependymoma	Pathogenic; Likely pathogenic	rs121912678, rs387906589	RCV006253673 RCV006253680	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epicanthus	Pathogenic	rs121912678	RCV001823099	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Pathogenic	rs387906588	RCV006273065	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive myositis ossificans	Pathogenic; Likely pathogenic	rs797045135, rs863224846, rs121912678, rs121912679, rs121912680, rs387906588, rs387906589, rs387906590, rs387906591	RCV000190876 RCV000198218 RCV000019971 RCV000019972 RCV000019973 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL EPICANTHUS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Uncertain significance	ClinVar ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Embryonal rhabdomyosarcoma	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple congenital anomalies/dysmorphic syndrome	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOSITIS OSSIFICANS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY ANGLE-CLOSURE GLAUCOMA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY OPEN ANGLE GLAUCOMA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (146)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma, Clear Cell	Adenocarcinoma	BEFREE	9183637		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	10810314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	CTD_human_DG	24705250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplastic Large Cell Lymphoma, ALK-Positive	Anaplastic Lymphoma	BEFREE	28665006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ankylosis	Ankylosis	Pubtator	37156007	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	31655222		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	LHGDN	18292470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	24705250, 25047029		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	CTD_human_DG	24705250		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	Pubtator	25047029	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrioventricular Septal Defect	Atrioventricular septal defect	BEFREE	19506109		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	22408652, 35650602	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	28780023	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Stem Glioma	Brain Stem Glioma	CLINVAR_DG	26619011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17004110, 28075462, 29693185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	23180569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23180569, 32960377	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	32960377	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Camptodactyly 1	Camptodactyly	Pubtator	21044902	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24375256, 31685442	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	21668474		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	7850892	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	25791160	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	28199984	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	31589004	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Astrocytoma	Astrocytoma	CTD_human_DG	24705250		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29970906		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	29970906		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Cerebral Astrocytoma	Astrocytoma	CTD_human_DG	24705250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	39831920	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	23088614	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	11689702, 12969958, 23554904		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	28659385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24375256, 29180853, 31685442		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20011542, 24375256, 31685442	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24375256	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	19506109, 21248739, 29551750		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital malformation syndrome	Congenital Malformation Syndrome	BEFREE	25136070		★★★★★ ★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	21248739		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	31655222		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	30429363	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	24705252, 26097044	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	28918311		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Astrocytoma	Astrocytoma	CTD_human_DG	24705250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Intrinsic Pontine Glioma	Diffuse Intrinsic Pontine Glioma	BEFREE	24705252, 24705254, 25101911, 25136070, 28780023, 29551750, 30828000, 30833574, 31551357, 31683698		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	21248739		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	34360647	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Simplex	Epidermolysis bullosa	Pubtator	26097044	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	12469187		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	34725559	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrillary Astrocytoma	Fibrillary Astrocytoma	CTD_human_DG	24705250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrodysplasia Ossificans Progressiva	Fibrodysplasia Ossificans Progressiva	BEFREE	16642017, 17077940, 17351709, 17477807, 17572636, 18203193, 18684712, 18830232, 18952055, 19085907, 19300893, 19330033, 19543505, 19795179, 19796185 View all (92 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrodysplasia Ossificans Progressiva	Fibrodysplasia Ossificans Progressiva	UNIPROT_DG	16642017, 19085907, 19330033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrodysplasia Ossificans Progressiva	Fibrodysplasia Ossificans Progressiva	GENOMICS_ENGLAND_DG	18830232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrodysplasia Ossificans Progressiva	Fibrodysplasia Ossificans Progressiva	CLINVAR_DG	19085907, 22977237		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrodysplasia Ossificans Progressiva	Fibrodysplasia Ossificans Progressiva	ORPHANET_DG	23011467		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrodysplasia ossificans progressiva	Fibrodysplasia Ossificans Progressiva	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrodysplasia Ossificans Progressiva	Fibrodysplasia Ossificans Progressiva	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	CLINVAR_DG	26619011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gemistocytic astrocytoma	Gemistocytic Astrocytoma	CTD_human_DG	24705250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma Angle Closure	Angle closure glaucoma	Pubtator	32641001	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	CTD_human_DG	24705251, 24705252, 24705254		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	35481923, 36759899, 36882456, 38172189	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	CGI_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gonadal Dysgenesis	Gonadal dysgenesis	Pubtator	26097044	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Grade I Astrocytoma	Grade I Astrocytoma	CTD_human_DG	24705250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hamartoma	Hamartoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	26097044	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile myofibromatosis	myofibromatosis	BEFREE	25899773		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	35236255	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Astrocytoma	Intracranial Astrocytoma	CTD_human_DG	24705250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	30227271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron-Refractory Iron Deficiency Anemia	Anemia	GENOMICS_ENGLAND_DG	28476747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile Pilocytic Astrocytoma	Astrocytoma	CTD_human_DG	24705250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23593444	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	24705251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	CTD_human_DG	24705251, 24705252, 24705254		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17004110, 28075462, 29693185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	23180569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30819221		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	19736306, 29259971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21668474, 22884369, 28782519, 29180853, 31683698, 31685442		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29970906		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	23180569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	23180569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	23180569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	25204799	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	27304678		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microglossia	Microglossia	BEFREE	31571391		★★★★★ ★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	20716560		★★★★★ ★☆☆☆☆ Found in Text Mining only
mixed gliomas	Glioma	CTD_human_DG	24705251, 24705252, 24705254		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mixed oligoastrocytoma	Oligoastrocytoma	CTD_human_DG	24705250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	16642017, 19085907, 26436010, 8758048		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	36717825	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	11689702, 12969958, 18412956, 23554904		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myofibromatosis	Myofibromatosis	BEFREE	25899773		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis Ossificans	Myositis	Pubtator	17967130, 18245597, 18830232, 19085907, 19330033, 19543505, 20577760, 21044902, 21525719, 22011642, 22131272, 22408438, 22408652, 22581580, 22748444 View all (36 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myositis Ossificans	Myositis Ossificans	LHGDN	18019378		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myositis Ossificans	Myositis Ossificans	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasal Polyps	Nasal polyp	Pubtator	29367682	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21504908, 23180569, 25101911, 27304678, 28780023, 29084603, 31685442, 8636304, 9183637		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	26097044	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	BEFREE	27304678		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity, Morbid	Obesity	BEFREE	28659385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	25047029	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	34061439	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Orofaciodigital syndrome 9	Orofaciodigital syndrome	Pubtator	19330033	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osseous ankylosis	Osseous Ankylosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	27182040		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	33034913	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	9570994		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	19996292, 23468915	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30819221		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	8760600		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	25791160	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Partial atrioventricular canal	Partial atrioventricular canal defect	BEFREE	21248739		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	10810314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	CTD_human_DG	24705250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	18854405		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	LHGDN	18854405		★★★★★ ★☆☆☆☆ Found in Text Mining only
Posterior subcapsular cataract	Capsular cataract	BEFREE	21504908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	19736306, 29259971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	17496924	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Protoplasmic astrocytoma	Protoplasmic Astrocytoma	CTD_human_DG	24705250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	9183637		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	30429363	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	18077314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sex Differentiation Disorders	Sex Differentiation Disorders	BEFREE	30550360		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	27182040		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	31563893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	21668474		★★★★★ ★☆☆☆☆ Found in Text Mining only
Subependymal Giant Cell Astrocytoma	Astrocytoma	CTD_human_DG	24705250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	9365168	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29693185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trismus	Trismus	Pubtator	39287296	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ACVR1 (activin A receptor type 1)