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

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	70
Gene name	Actin alpha cardiac muscle 1
Gene symbol	ACTC1
Synonyms (NCBI Gene)	ACTCASD5CMD1RCMH11LVNC4
Chromosome	15
Chromosome location	15q14
Summary	Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The prot

Show/Hide all (53)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023839	hsa-miR-1-3p	Proteomics	18668040
MIRT731629	hsa-miR-139-5p	Luciferase reporter assay	27139165
MIRT731629	hsa-miR-139-5p	Luciferase reporter assay	27139165
MIRT763851	hsa-miR-1303	CLIP-seq
MIRT763852	hsa-miR-137	CLIP-seq
MIRT763853	hsa-miR-190	CLIP-seq
MIRT763854	hsa-miR-190b	CLIP-seq
MIRT763855	hsa-miR-25	CLIP-seq
MIRT763856	hsa-miR-3133	CLIP-seq
MIRT763857	hsa-miR-3168	CLIP-seq
MIRT763858	hsa-miR-32	CLIP-seq
MIRT763859	hsa-miR-34b	CLIP-seq
MIRT763860	hsa-miR-363	CLIP-seq
MIRT763861	hsa-miR-367	CLIP-seq
MIRT763862	hsa-miR-3688-3p	CLIP-seq
MIRT763863	hsa-miR-3978	CLIP-seq
MIRT763864	hsa-miR-4263	CLIP-seq
MIRT763865	hsa-miR-4307	CLIP-seq
MIRT763866	hsa-miR-4325	CLIP-seq
MIRT763867	hsa-miR-450b-5p	CLIP-seq
MIRT763868	hsa-miR-4536	CLIP-seq
MIRT763869	hsa-miR-4539	CLIP-seq
MIRT763870	hsa-miR-4699-5p	CLIP-seq
MIRT763871	hsa-miR-4724-5p	CLIP-seq
MIRT763872	hsa-miR-514	CLIP-seq
MIRT763873	hsa-miR-514b-3p	CLIP-seq
MIRT763874	hsa-miR-548b-3p	CLIP-seq
MIRT763875	hsa-miR-568	CLIP-seq
MIRT763876	hsa-miR-576-5p	CLIP-seq
MIRT763877	hsa-miR-877	CLIP-seq
MIRT763878	hsa-miR-92a	CLIP-seq
MIRT763879	hsa-miR-92b	CLIP-seq
MIRT763880	hsa-miR-935	CLIP-seq
MIRT1925123	hsa-miR-1290	CLIP-seq
MIRT763855	hsa-miR-25	CLIP-seq
MIRT1925124	hsa-miR-3130-3p	CLIP-seq
MIRT1925125	hsa-miR-3167	CLIP-seq
MIRT1925126	hsa-miR-3194-3p	CLIP-seq
MIRT763858	hsa-miR-32	CLIP-seq
MIRT763860	hsa-miR-363	CLIP-seq
MIRT763861	hsa-miR-367	CLIP-seq
MIRT763864	hsa-miR-4263	CLIP-seq
MIRT1925127	hsa-miR-4282	CLIP-seq
MIRT1925128	hsa-miR-4760-3p	CLIP-seq
MIRT1925129	hsa-miR-4793-3p	CLIP-seq
MIRT1925130	hsa-miR-4799-5p	CLIP-seq
MIRT763876	hsa-miR-576-5p	CLIP-seq
MIRT1925131	hsa-miR-876-5p	CLIP-seq
MIRT763878	hsa-miR-92a	CLIP-seq
MIRT763879	hsa-miR-92b	CLIP-seq
MIRT2166637	hsa-miR-1229	CLIP-seq
MIRT2166638	hsa-miR-767-3p	CLIP-seq
MIRT2166639	hsa-miR-942	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
YY1	Repression	9171244

Show/Hide all (51)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000146	Function	Microfilament motor activity	IDA	16611632, 17765196
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	30021884, 33961781
GO:0005524	Function	ATP binding	IDA	16611632
GO:0005524	Function	ATP binding	IEA
GO:0005615	Component	Extracellular space	HDA	22664934, 23580065
GO:0005737	Component	Cytoplasm	IDA	20962418
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005884	Component	Actin filament	IBA
GO:0005884	Component	Actin filament	IDA	16611632, 19799913
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0007015	Process	Actin filament organization	IBA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016787	Function	Hydrolase activity	IEA
GO:0017022	Function	Myosin binding	IBA
GO:0017022	Function	Myosin binding	IDA	19799913
GO:0017022	Function	Myosin binding	IPI	16611632
GO:0030017	Component	Sarcomere	IBA
GO:0030017	Component	Sarcomere	IDA	16288873
GO:0030027	Component	Lamellipodium	ISS
GO:0030048	Process	Actin filament-based movement	IDA	16611632
GO:0030175	Component	Filopodium	ISS
GO:0030240	Process	Skeletal muscle thin filament assembly	IEA
GO:0030240	Process	Skeletal muscle thin filament assembly	ISS
GO:0031032	Process	Actomyosin structure organization	IEA
GO:0031032	Process	Actomyosin structure organization	ISS
GO:0031674	Component	I band	IEA
GO:0031674	Component	I band	ISS
GO:0033275	Process	Actin-myosin filament sliding	IBA
GO:0033275	Process	Actin-myosin filament sliding	IMP	19799913
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0044297	Component	Cell body	ISS
GO:0045202	Component	Synapse	IEA
GO:0045471	Process	Response to ethanol	IEA
GO:0055003	Process	Cardiac myofibril assembly	IEA
GO:0055003	Process	Cardiac myofibril assembly	ISS
GO:0055008	Process	Cardiac muscle tissue morphogenesis	IEA
GO:0055008	Process	Cardiac muscle tissue morphogenesis	ISS
GO:0060047	Process	Heart contraction	IBA
GO:0060047	Process	Heart contraction	IMP	9563954, 17611253, 17947298
GO:0060048	Process	Cardiac muscle contraction	IEA
GO:0060327	Process	Cytoplasmic actin-based contraction involved in cell motility	IEA
GO:0070062	Component	Extracellular exosome	HDA	21362503, 23533145
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0090131	Process	Mesenchyme migration	ISS
GO:0098978	Component	Glutamatergic synapse	IEA

MIM	HGNC	e!Ensembl
102540	143	ENSG00000159251

P68032

Protein name

Actin, alpha cardiac muscle 1 (EC 3.6.4.-) (Alpha-cardiac actin) [Cleaved into: Actin, alpha cardiac muscle 1, intermediate form]

Protein function

Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.

PDB

8GSU , 8GSW , 8GT1 , 8GT2 , 8GT3 , 8GT4 , 8GT5 , 8ZB7 , 8ZI9 , 8ZJ1 , 9B3Q , 9B3R

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00022	Actin	4 → 377	Actin	Family

Sequence

MCDDEETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEA
QSKRGILTLKYPIEHGIITNWDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREK
MTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRL
DLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK
SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNV
LSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWIS
KQEYDEAGPSIVHRKCF

Sequence length

377

Interactions

View interactions

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 (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Arthrogryposis	Likely pathogenic	rs2504175858	RCV003984877	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial septal defect 5	Likely pathogenic; Pathogenic	rs2140432240, rs727504308, rs2504180886, rs2504177349, rs121912675, rs121912677, rs267606629, rs193922680, rs397517073, rs1566967399	RCV001961500 RCV001857531 RCV002846466 RCV003807506 RCV001380614 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiomyopathy	Pathogenic; Likely pathogenic	rs193922680, rs1566967399	RCV000769471 RCV000770514	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs727504308, rs193922680, rs1566967399	RCV005791821 RCV002433462 RCV002386332	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dilated cardiomyopathy 1R	Likely pathogenic; Pathogenic	rs2140432240, rs727504308, rs2504180886, rs2504177349, rs121912675, rs267606629, rs193922680, rs397517073, rs1566967399	RCV001961500 RCV001857531 RCV002846466 RCV003807506 RCV001380614 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic cardiomyopathy	Pathogenic; Likely pathogenic	rs193922680, rs397517073	RCV000844601 RCV006445478	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic cardiomyopathy 11	Likely pathogenic; Pathogenic	rs2140432240, rs727504308, rs730880388, rs2504180886, rs2504177349, rs121912675, rs267606629, rs193922680, rs397517073, rs1566967399	RCV001961500 RCV001857531 RCV001843486 RCV002846466 RCV003807506 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Left ventricular noncompaction 4	Pathogenic	rs193922680	RCV000019997	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary dilated cardiomyopathy	Likely pathogenic	rs727504379, rs397517065	RCV000154537 RCV000038333	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary familial hypertrophic cardiomyopathy	Pathogenic	rs193922680	RCV000029295	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (30)

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.
ACTC1-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial septal defect	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL SEPTAL DEFECT, OSTIUM SECUNDUM TYPE	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL SEPTAL DEFECTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1R	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL IDIOPATHIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATATION OF LEFT CARDIAC VENTRICLE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy 1A	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated Cardiomyopathy, Dominant	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	—	CTD, Orphanet CTD, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial restrictive cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic cardiomyopathy 2	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular dilatation	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction	Conflicting classifications of pathogenicity	ClinVar Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Left ventricular noncompaction 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
STOMACH NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolff-Parkinson-White pattern	Uncertain significance; no classifications from unflagged records	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLFF-PARKINSON-WHITE SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (111)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Ametropia	Ametropia	CTD_human_DG	20835239		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	33947203	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	24461919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defect 5	Atrial Septal Defect	CLINVAR_DG	10966831, 16611632, 17611253, 19799913, 21622575, 22590617, 23283745, 24736382, 9563954		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Atrial Septal Defect 5	Atrial Septal Defect	UNIPROT_DG	17947298		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Atrial Septal Defect 5	Atrial Septal Defect	GENOMICS_ENGLAND_DG	17947298, 24461919, 26061005, 27532257, 30681346		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Atrial Septal Defect 5	Atrial Septal Defect	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Atrial septal defect, ostium secundum type	Atrial Septal Defect	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defects	Atrial Septal Defect	BEFREE	17947298, 18400036, 20962418, 23299027, 24461919, 25861618, 27139165, 31430208, 31434612		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defects	Atrial Septal Defect	LHGDN	17947298		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	24461919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29512753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29512753	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	10330430, 12075240, 17947298, 20031619, 24736382, 26061005		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	LHGDN	17947298		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	22194935, 27834932, 35544052, 35893073	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	23570452, 24367596, 26458567, 29440008, 31983221, 34011823, 37457373	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Dilated cardiomyopathy	Pubtator	29440008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	25342278, 29440008, 30392975, 30600190, 30681346, 33947203, 37457373, 37466024, 39340495	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic Familial	Cardiomyopathy	Pubtator	29440008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	16845895, 24367596, 29440008, 31430208, 31434612		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	CLINVAR_DG	25201647		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1R	Cardiomyopathy	CLINVAR_DG	10966831, 16611632, 17611253, 19799913, 21622575, 22590617, 23283745, 24736382, 9563954		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1R	Cardiomyopathy	GENOMICS_ENGLAND_DG	26061005, 27532257, 30681346		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1R	Cardiomyopathy	UNIPROT_DG	9563954		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Hypertrophic, 11	Cardiomyopathy	UNIPROT_DG	10330430, 10966831, 14729850, 18403758		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Hypertrophic, 11	Cardiomyopathy	CLINVAR_DG	10966831, 16267253, 16611632, 17611253, 18506004, 19799913, 21622575, 22590617, 23283745, 24736382, 9563954		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Hypertrophic, 11	Cardiomyopathy	GENOMICS_ENGLAND_DG	26061005, 27532257, 30681346		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Hypertrophic, 11	Cardiomyopathy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	10330430, 10966831, 15671604, 15819894, 23570452, 31434612, 9563954		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)	Cardiomyopathy	BEFREE	18467357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	BEFREE	10330430, 16611632, 29440008		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chagas Cardiomyopathy	Chagas Cardiomyopathy	BEFREE	24367596		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chagas Cardiomyopathy	Chagas cardiomyopathy	Pubtator	24367596	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	24367596	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	17163532, 26061005		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	20962418		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	21622575, 9563954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	17947298, 20962418, 23299027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	BEFREE	10966831		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	ORPHANET_DG	9563954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial isolated dilated cardiomyopathy	Dilated Cardiomyopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	31680804		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	27081897, 30055382		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	27081897, 30055382		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	27081897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	37457373	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	29440008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	21622575, 9563954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	BEFREE	17611253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Congenital heart septal defect	Pubtator	36011517	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Atrial	Congenital heart septal defect	Pubtator	27139165, 37457373	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Ventricular	Congenital heart septal defect	Pubtator	30897084	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	19424620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	10330430		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINGEN_DG	10330430, 10966831, 16267253, 16675844, 17611253, 21622575, 22643837, 23604709, 24309898, 24736382, 27532257		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	10966831, 12075240, 12222827, 15819894, 22643837, 28887330, 28972856, 29440008, 30392975, 30600190		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINVAR_DG	10966831, 16267253, 16611632, 17611253, 18506004, 19799913, 21622575, 21839045, 22563033, 24736382, 25239116, 27532257		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	LHGDN	17611253		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	GENOMICS_ENGLAND_DG	30681346		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	12075240, 22643837, 28887330, 29440008, 30392975		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	30681346	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	24367596	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Left ventricular noncompaction	Left ventricular noncompaction	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Left ventricular noncompaction	Left ventricular noncompaction	ORPHANET_DG	18506004		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Left ventricular noncompaction	Left ventricular noncompaction	BEFREE	20031619		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Left ventricular noncompaction	Left ventricular noncompaction	CLINVAR_DG	25201647		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LEFT VENTRICULAR NONCOMPACTION 4	Left ventricular noncompaction	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LEFT VENTRICULAR NONCOMPACTION 4	Left ventricular noncompaction	GENOMICS_ENGLAND_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Left ventricular noncompaction cardiomyopathy	Cardiomyopathy	BEFREE	25550050, 29568952		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Left ventricular noncompaction cardiomyopathy	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lipoatrophy	Lipoatrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29512753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	20441232, 28756295		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	19424620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	19184181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	17611253, 17947298, 22464770, 24461919, 27139165		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	BEFREE	30289745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathies, Nemaline	Myopathy	BEFREE	16288873		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathies, Nemaline	Myopathy	LHGDN	18477565		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	28756295		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia, Degenerative	Myopia	BEFREE	23834555		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	32986378	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ostium secundum atrial septal defect	Secundum atrial septal defect	ORPHANET_DG	17947298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ostium secundum atrial septal defect	Secundum atrial septal defect	BEFREE	27139165		★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	25861618		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	20441232, 28756295		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20441232	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	30111857	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	34285060	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	10206225		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	19424620		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	27125413		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	27125413	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	21483740, 32233022, 36131343, 36245371	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	23299027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

ACTC1 (actin alpha cardiac muscle 1)