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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	58
Gene name Gene Name - the full gene name approved by the HGNC.	Actin alpha 1, skeletal muscle
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ACTA1
Synonyms (NCBI Gene) Gene synonyms aliases	ACTA, ASMA, CFTD, CFTD1, CFTDM, CMYO2A, CMYO2B, CMYO2C, CMYP2A, CMYP2B, CMYP2C, MPFD, NEM1, NEM2, NEM3, SHPM
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q42.13
Summary Summary of gene provided in NCBI Entrez Gene.	The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a

Show/Hide all(84)

SNP ID	Visualize variation	Clinical significance	Consequence
rs111812550	C>G,T	Pathogenic	Splice donor variant
rs112919437	T>C,G	Likely-pathogenic	Splice acceptor variant
rs121909519	A>G	Pathogenic	Missense variant, coding sequence variant
rs121909520	T>C	Pathogenic	Missense variant, coding sequence variant
rs121909521	C>G	Pathogenic	Missense variant, coding sequence variant
rs121909522	C>A,G,T	Pathogenic	Missense variant, coding sequence variant
rs121909523	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs121909524	T>G	Pathogenic	Missense variant, coding sequence variant
rs121909525	C>A,G	Pathogenic	Missense variant, coding sequence variant
rs121909526	G>C	Pathogenic	Missense variant, coding sequence variant
rs121909527	C>A	Pathogenic	Missense variant, coding sequence variant
rs121909528	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs121909529	T>A	Pathogenic	Missense variant, coding sequence variant
rs121909530	A>G	Pathogenic	Missense variant, coding sequence variant
rs121909531	G>A	Pathogenic	Missense variant, coding sequence variant
rs201823652	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs267606626	C>A	Pathogenic	Missense variant, coding sequence variant
rs267606627	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs367543048	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs367543049	C>T	Pathogenic	Missense variant, coding sequence variant
rs367543050	C>G	Pathogenic	Missense variant, coding sequence variant
rs367543051	C>T	Pathogenic	Missense variant, coding sequence variant
rs371410845	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs372686280	C>A,T	Likely-pathogenic	Splice donor variant
rs398122936	C>G	Pathogenic	Coding sequence variant, missense variant
rs398123562	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs398123563	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs587777354	C>A	Pathogenic	Coding sequence variant, missense variant
rs587780271	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs587780272	G>T	Pathogenic	Coding sequence variant, missense variant
rs727503797	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs748592740	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs753923758	->A	Pathogenic	Frameshift variant, coding sequence variant
rs759242559	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs768144106	C>A,G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs794727488	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs869312739	C>A	Pathogenic	Missense variant, coding sequence variant
rs878854374	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs886039302	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs886039557	G>A	Pathogenic	Coding sequence variant, missense variant
rs1025502215	G>A,T	Pathogenic, likely-benign	Synonymous variant, coding sequence variant, stop gained
rs1057518493	G>A,C,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1057519311	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1057521117	C>G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057521118	C>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1057521119	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057521120	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064794287	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs1064794652	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1064795075	GCCTCGG>ACCTCGA	Likely-pathogenic	Missense variant, coding sequence variant
rs1085308014	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691728	T>C	Pathogenic	Missense variant, coding sequence variant
rs1131691941	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1211561143	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1301902450	T>A	Pathogenic	Splice acceptor variant
rs1435160117	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs1553255288	A>G	Pathogenic	Stop lost, terminator codon variant
rs1553255293	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553255301	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1553255354	C>G	Pathogenic	Coding sequence variant, missense variant
rs1553255357	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1553255360	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553255362	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1553255446	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1553255479	G>C	Pathogenic	Coding sequence variant, missense variant
rs1553255486	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553255501	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553255502	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553255506	A>C	Pathogenic	Coding sequence variant, missense variant
rs1553255521	C>A,G	Pathogenic	Coding sequence variant, missense variant
rs1558081605	A>G	Pathogenic	Coding sequence variant, missense variant
rs1558081624	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1558081664	C>A,G	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant
rs1558081804	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1558082053	AAG>-	Pathogenic	Inframe deletion, coding sequence variant
rs1571892193	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1571892196	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1571892209	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1571893319	T>C	Pathogenic	Coding sequence variant, missense variant
rs1571893383	G>T	Pathogenic	Coding sequence variant, missense variant
rs1571893783	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1571893878	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1571893885	T>C	Pathogenic	Coding sequence variant, missense variant
rs1571894217	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant

Show/Hide all(56)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023513	hsa-miR-1-3p	Proteomics	18668040
MIRT037359	hsa-miR-877-5p	CLASH	23622248
MIRT550909	hsa-miR-3662	PAR-CLIP	21572407
MIRT550908	hsa-miR-1252-3p	PAR-CLIP	21572407
MIRT550907	hsa-miR-495-3p	PAR-CLIP	21572407
MIRT550906	hsa-miR-5688	PAR-CLIP	21572407
MIRT550905	hsa-miR-7-1-3p	PAR-CLIP	21572407
MIRT550904	hsa-miR-7-2-3p	PAR-CLIP	21572407
MIRT550903	hsa-miR-4698	PAR-CLIP	21572407
MIRT550902	hsa-let-7a-5p	PAR-CLIP	21572407
MIRT550901	hsa-let-7b-5p	PAR-CLIP	21572407
MIRT550900	hsa-let-7c-5p	PAR-CLIP	21572407
MIRT550899	hsa-let-7d-5p	PAR-CLIP	21572407
MIRT550898	hsa-let-7e-5p	PAR-CLIP	21572407
MIRT550897	hsa-let-7f-5p	PAR-CLIP	21572407
MIRT550896	hsa-let-7g-5p	PAR-CLIP	21572407
MIRT550895	hsa-let-7i-5p	PAR-CLIP	21572407
MIRT550894	hsa-miR-4458	PAR-CLIP	21572407
MIRT550893	hsa-miR-4500	PAR-CLIP	21572407
MIRT550892	hsa-miR-98-5p	PAR-CLIP	21572407
MIRT550891	hsa-miR-202-3p	PAR-CLIP	21572407
MIRT550890	hsa-miR-567	PAR-CLIP	21572407
MIRT550889	hsa-miR-569	PAR-CLIP	21572407
MIRT550888	hsa-miR-297	PAR-CLIP	21572407
MIRT550909	hsa-miR-3662	PAR-CLIP	21572407
MIRT550908	hsa-miR-1252-3p	PAR-CLIP	21572407
MIRT550907	hsa-miR-495-3p	PAR-CLIP	21572407
MIRT550906	hsa-miR-5688	PAR-CLIP	21572407
MIRT550905	hsa-miR-7-1-3p	PAR-CLIP	21572407
MIRT550904	hsa-miR-7-2-3p	PAR-CLIP	21572407
MIRT550903	hsa-miR-4698	PAR-CLIP	21572407
MIRT550902	hsa-let-7a-5p	PAR-CLIP	21572407
MIRT550901	hsa-let-7b-5p	PAR-CLIP	21572407
MIRT550900	hsa-let-7c-5p	PAR-CLIP	21572407
MIRT550899	hsa-let-7d-5p	PAR-CLIP	21572407
MIRT550898	hsa-let-7e-5p	PAR-CLIP	21572407
MIRT550897	hsa-let-7f-5p	PAR-CLIP	21572407
MIRT550896	hsa-let-7g-5p	PAR-CLIP	21572407
MIRT550895	hsa-let-7i-5p	PAR-CLIP	21572407
MIRT550894	hsa-miR-4458	PAR-CLIP	21572407
MIRT550893	hsa-miR-4500	PAR-CLIP	21572407
MIRT550892	hsa-miR-98-5p	PAR-CLIP	21572407
MIRT550891	hsa-miR-202-3p	PAR-CLIP	21572407
MIRT550890	hsa-miR-567	PAR-CLIP	21572407
MIRT550889	hsa-miR-569	PAR-CLIP	21572407
MIRT550888	hsa-miR-297	PAR-CLIP	21572407
MIRT2425914	hsa-let-7a	CLIP-seq
MIRT2425915	hsa-let-7b	CLIP-seq
MIRT2425916	hsa-let-7c	CLIP-seq
MIRT2425917	hsa-let-7d	CLIP-seq
MIRT2425918	hsa-let-7e	CLIP-seq
MIRT2425919	hsa-let-7f	CLIP-seq
MIRT2425920	hsa-let-7g	CLIP-seq
MIRT2425921	hsa-let-7i	CLIP-seq
MIRT2425922	hsa-miR-202	CLIP-seq
MIRT2425923	hsa-miR-98	CLIP-seq

Transcription factors

Show/Hide all(4)

Transcription factor	Regulation	Reference
AR	Activation	15623502
FOS	Unknown	1460048
JUN	Unknown	1460048
SRF	Unknown	15623502

Show/Hide all(33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001725	Component	Stress fiber	IBA
GO:0001725	Component	Stress fiber	IDA	15198992
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	10508519
GO:0005515	Function	Protein binding	IPI	12849983, 18835984, 28514442, 32814053, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	TAS	10508519
GO:0005615	Component	Extracellular space	HDA	23580065
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005865	Component	Striated muscle thin filament	IBA
GO:0005865	Component	Striated muscle thin filament	IDA	15198992
GO:0005884	Component	Actin filament	IBA
GO:0005884	Component	Actin filament	IDA	12849983
GO:0006936	Process	Muscle contraction	TAS	10508519
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0015629	Component	Actin cytoskeleton	IMP	15198992
GO:0016787	Function	Hydrolase activity	IEA
GO:0017022	Function	Myosin binding	TAS	10508519
GO:0030017	Component	Sarcomere	IDA	1423520
GO:0030027	Component	Lamellipodium	ISS
GO:0030175	Component	Filopodium	ISS
GO:0030240	Process	Skeletal muscle thin filament assembly	IBA
GO:0030240	Process	Skeletal muscle thin filament assembly	IMP	11333380
GO:0043531	Function	ADP binding	TAS	10508519
GO:0044297	Component	Cell body	ISS
GO:0048741	Process	Skeletal muscle fiber development	IEA
GO:0048741	Process	Skeletal muscle fiber development	ISS
GO:0070062	Component	Extracellular exosome	HDA	19199708, 21362503, 23533145
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0090131	Process	Mesenchyme migration	ISS

MIM	HGNC	e!Ensembl
102610	129	ENSG00000143632

Protein

UniProt ID

P68133

Protein name

Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-actin-1) [Cleaved into: Actin, alpha skeletal muscle, 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

7RNS , 7RNU , 7RNV , 9DUU , 9DUV

Family and domains

Pfam

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

Sequence

MCDEDETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEA
QSKRGILTLKYPIEHGIITNWDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREK
MTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRL
DLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK
SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNV
MSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWIT
KQEYDEAGPSIVHRKCF

Sequence length

377

Interactions

View interactions

	KEGG		Reactome
	Motor proteins Cytoskeleton in muscle cells		Striated Muscle Contraction

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
congenital myopathy	Congenital myopathy 2c, severe infantile, autosomal dominant, Congenital myopathy 2b, severe infantile, autosomal recessive, Congenital myopathy	rs121909531, rs1064794287, rs759242559, rs121909519, rs367543049, rs121909521, rs121909522, rs121909523, rs398122936, rs121909524, rs1571893814, rs121909529, rs1558081664, rs768144106	N/A
congenital myopathy with fiber type disproportion	Congenital myopathy with fiber type disproportion	rs367543049, rs367543048, rs121909529, rs1558081664, rs121909531	N/A
Progressive Scapulohumeroperoneal Distal Myopathy	progressive scapulohumeroperoneal distal myopathy	rs1057521120, rs121909531, rs1553255357, rs367543048, rs121909522, rs869312739	N/A
Nemaline myopathy	nemaline myopathy 2, Nemaline myopathy 3, autosomal dominant or recessive	rs1553255357, rs1553255362, rs587780271, rs587780272	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Congenital Myopathy With Excess Of Thin Filaments	congenital myopathy with excess of thin filaments	N/A	N/A	GenCC
Restrictive cardiomyopathy	Familial restrictive cardiomyopathy	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (217)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Actin Accumulation Myopathy	Associate	19562689, 25938801
Adenocarcinoma	Associate	17965528, 28611465
Adenocarcinoma of Lung	Stimulate	25189096
Adenocarcinoma of Lung	Associate	30605235
Adenoma Pleomorphic	Associate	20614261, 25611270
Adenoma Pleomorphic	Stimulate	21996542
Adenomyosis	Associate	37884924
Airway Obstruction	Associate	21496259
Alzheimer Disease	Associate	26988843
Ameloblastoma	Associate	20333560, 33917771
Angiomyoma	Associate	26085647, 26558691
Angiopathy Hereditary With Nephropathy Aneurysms And Muscle Cramps	Associate	32093627
Ankyloglossia	Associate	37329213
Aortic Aneurysm Familial Abdominal 1	Associate	25548922
Aortic Diseases	Stimulate	28546218
Aortic Dissection	Associate	35078481
Aortic Valve Insufficiency	Inhibit	37500054
Arteriovenous Fistula	Associate	33757402
Arthritis Rheumatoid	Associate	17076892
Arthritis Rheumatoid	Stimulate	20628268
Asthma	Stimulate	16430780
Asthma	Associate	33710120
Atherosclerosis	Associate	26992033
Atrial Fibrillation	Associate	33681892
Basal Cell Nevus Syndrome	Stimulate	35740900
Behcet Syndrome	Associate	26967452
Biliary Atresia	Associate	24696612
Bohring syndrome	Associate	32969603
Bone Diseases	Associate	12401825, 32524367
Brain Neoplasms	Stimulate	28952213
Breast Neoplasms	Stimulate	23474495, 27913195, 39732179
Breast Neoplasms	Associate	26126114, 26431176, 26846996, 28272713, 28533055, 34651665, 35690734, 35743318, 37217880, 37222874
Bronchiolitis Obliterans Syndrome	Stimulate	21641374, 27994216
Bronchopulmonary Dysplasia	Stimulate	26968771
Calcinosis	Associate	32587575
Carcinogenesis	Associate	21912905
Carcinoma Adenoid Cystic	Associate	26191305
Carcinoma Hepatocellular	Associate	22732936, 23601182, 23940715, 27074018, 31969493, 32002283
Carcinoma Hepatocellular	Stimulate	24386414
Carcinoma Pancreatic Ductal	Associate	24797069, 26219899, 35804329
Carcinoma Squamous Cell	Associate	17965528, 19383239, 21674250, 24560559
Carcinoma Verrucous	Stimulate	22392407
Carcinoma Verrucous	Associate	24560559
Cardiomyopathy Dilated	Stimulate	29115553
Cardiomyopathy Dilated	Associate	32969603, 35757965
Cardiomyopathy Hypertrophic	Stimulate	11583900
Cardiomyopathy Hypertrophic	Associate	35917599
Cataract	Stimulate	28442786, 33274006
Cerebral Amyloid Angiopathy	Associate	26988843
Chemical and Drug Induced Liver Injury	Associate	27399683, 32330605
Cholangiocarcinoma	Associate	23688168, 40676676
Chondrosarcoma Extraskeletal Myxoid	Associate	22569967
Colorectal Neoplasms	Stimulate	21912905, 30355650, 33625532
Colorectal Neoplasms	Associate	23298232, 24015033, 28412748, 35869338, 35870973, 36010567, 37369175
Coronary Artery Disease	Associate	29339694
COVID 19	Associate	35008594
Death	Associate	23940715, 25428687
Diabetes Mellitus	Stimulate	39199356
Diabetes Mellitus Type 2	Stimulate	32857885
Diabetic Nephropathies	Associate	39199356
Diabetic Retinopathy	Associate	35522303
Diaphyseal medullary stenosis with malignant fibrous histiocytoma	Associate	12401825
Diarrhea 5 With Tufting Enteropathy Congenital	Associate	22392407, 30937621
Disease	Associate	31973719
Distal myopathy Nonaka type	Associate	30987788
Dupuytren Contracture	Stimulate	23292503, 30633751
Dupuytren Contracture	Associate	23992143, 24359029, 34270583
Eosinophilic Esophagitis	Stimulate	26727658
Epilepsy Tonic Clonic	Inhibit	36104359
Esophageal Squamous Cell Carcinoma	Associate	37254126
Fibroma Desmoplastic	Associate	35174683
Fibrosis	Associate	15313011, 17600343, 18508359, 23303029, 24966580, 25175743, 25637870, 26088859, 26330748, 27478076, 28665955, 29115553, 29952218, 31166951, 33597925 View all (17 more)
Fibrosis	Stimulate	26327314
Glioma	Associate	25478951
Glioma	Stimulate	26317904
Glomerulonephritis	Associate	11511791, 22460095
Glomerulonephritis IGA	Associate	18334740, 24788122, 37170272
Glomerulonephritis Membranoproliferative	Stimulate	11471306
Glomerulonephritis Membranoproliferative	Associate	11511791
Glomus Tumor	Associate	26558691
Glycosuria Renal	Inhibit	22460095
Graves Disease	Associate	29739987
HAIR AN syndrome	Associate	34110576
Hamman Rich Syndrome	Associate	35527237
Heart Diseases	Associate	25888334, 35078481
Hepatitis C Chronic	Associate	17600343, 18508359
Hydatidiform Mole	Inhibit	25849742
Hyperkeratosis Epidermolytic	Associate	20843116
Hyperoxia	Stimulate	26968771
Hyperplasia	Associate	37986350
Hypertension Pregnancy Induced	Stimulate	39587642
Hypertension Pulmonary	Inhibit	22452949
Hypoxia	Stimulate	26968771, 27909731, 27941077, 28349784, 31234835, 38190128
Hypoxia	Associate	29769799
Hypoxia	Inhibit	37653539
Hypoxia Brain	Stimulate	24347249, 28349784, 36928344
Hypoxia Ischemia Brain	Associate	38545656
Idiopathic Pulmonary Fibrosis	Associate	15955241, 21103368, 22295148, 23755232, 29263297, 30709904, 33474654, 37798725
Idiopathic Pulmonary Fibrosis	Stimulate	25476248, 27107963, 31234835
IgA Vasculitis	Stimulate	20529817
Immunoglobulin G4 Related Disease	Associate	35269701
Infections	Stimulate	31216320
Infections	Associate	37259630
Inflammation	Associate	26230374, 33028580
Inflammation	Stimulate	35184400
Intranuclear Rod Myopathy	Associate	19562689
Jaundice	Associate	30381493
Keloid	Associate	32327724
Kidney Failure Chronic	Associate	38382928
Laryngeal Neoplasms	Associate	31967978
Laryngotracheal Stenosis Progressive with Short Stature and Arthropathy	Associate	28349784, 32857885
Leukemia Myeloid Acute	Associate	23705901
Lichen Planus Oral	Associate	27699902
Liver Cirrhosis	Associate	15334680, 20143336, 24966580, 26097586, 34481189
Liver Cirrhosis	Stimulate	18508359
Liver Cirrhosis Biliary	Associate	36982376
Liver Diseases	Associate	8305144
Liver Failure	Associate	26097586, 30381493
Lung Diseases	Associate	19877031, 25476248, 34731044
Lung Diseases Interstitial	Associate	15955241, 22710982
Lung Diseases Interstitial	Stimulate	32602227, 34344444
Lung Diseases Obstructive	Associate	33710120
Lung Neoplasms	Associate	24662457
Lupus Nephritis	Associate	11511791
Mitochondrial Diseases	Associate	25735936
Mitral Valve Prolapse Myxomatous 1	Associate	34258920
Mixed Tumor Malignant	Associate	16286998
Mouth Diseases	Stimulate	37884924
Mouth Neoplasms	Associate	32593227
Muscle Hypotonia	Associate	35728439
Muscle Weakness	Associate	30987788, 35728439, 38142473
Muscular Diseases	Associate	19562689, 23886664, 25938801, 28416349, 30987788, 35728439, 38142473
Muscular Disorders Atrophic	Associate	30001387
Mydriasis Congenital	Associate	32093627
Myocardial Infarction	Stimulate	37798364
Myopathies Nemaline	Associate	11333380, 19562689, 25182138, 25938801, 30517146, 33397769, 33740643, 34157503, 34388489, 35728439, 35728440, 35757965, 35810298, 37265148, 37460656, 37986350, 40003902, 40147060 View all (3 more)
Myopathies Structural Congenital	Associate	19562689, 19953533, 25938801, 35757965
Myopathy Central Core	Associate	25938801
Myopericytoma	Associate	26558691
Myotonia Congenita	Associate	19562689, 38142473
Myxoma	Associate	7560205
Nasal Polyps	Stimulate	28804222, 35682987
Nasopharyngeal Carcinoma	Associate	24877105
Neoplasm Metastasis	Inhibit	23940715
Neoplasm Metastasis	Associate	24322015, 25119595
Neoplasm Residual	Associate	32388520
Neoplasms	Associate	18787407, 21674250, 21897388, 22563438, 23298232, 23918305, 23940715, 24015033, 24301956, 24322015, 24662457, 24912820, 25189096, 25314063, 25337241 View all (36 more)
Neoplasms	Stimulate	20177148, 28802099, 28878242, 30744595, 39930439
Neoplasms Glandular and Epithelial	Associate	15888043, 20843116
Nephritis	Associate	11511791
Nephrogenic Fibrosing Dermopathy	Stimulate	20570839
Neuroblastoma	Stimulate	28393230
Neuromuscular Diseases	Associate	25735936
O'Donnell Pappas syndrome	Associate	21179238, 38634365
Odontogenic Cyst Calcifying	Associate	35184400
Odontogenic Cysts	Stimulate	35740900
Odontoma	Associate	20333560
Oral Submucous Fibrosis	Associate	30001387, 32711434, 35381762, 37147960
Osteoporosis	Associate	32930132
Osteosarcoma	Associate	12401825, 26028530
Ovarian Neoplasms	Associate	35055018
Pancreatic Intraductal Neoplasms	Associate	26967452
Pancreatic Neoplasms	Associate	23940715, 25314063, 26844495
Pancreatitis Chronic	Stimulate	33893003
Pelvic Organ Prolapse	Associate	28582460
Pemphigoid Benign Mucous Membrane	Associate	26569118
Peritonitis	Associate	12409665
Personality Disorders	Associate	36242015
Polycystic Kidney Autosomal Dominant	Associate	19259356
Polymicrogyria Asymmetric	Associate	38142473
Polyps	Associate	12088453
Post Infectious Disorders	Associate	11511791
Prostatic Neoplasms	Stimulate	24615813
Prostatic Neoplasms	Associate	32413029, 33370412, 37929350
Pterygium	Associate	36242878
Pulmonary Disease Chronic Obstructive	Associate	21496259, 23937155, 36430467
Pulmonary Disease Chronic Obstructive	Stimulate	31427443, 34210319
Pulmonary Disease Chronic Obstructive	Inhibit	33710120
Pulmonary Embolism	Inhibit	22452949
Pulmonary Veno Occlusive Disease	Associate	31202500
Radicular Cyst	Associate	32388520
Renal Insufficiency Chronic	Associate	23303029
Retinal Dysplasia	Stimulate	32035062
Retinal Dysplasia	Associate	38167622
Retinal Vein Occlusion	Associate	35808901
Retroperitoneal liposarcoma	Associate	35982904
Rigid spine syndrome	Associate	25182138
Salivary Gland Adenoma Pleomorphic	Associate	25611270
Scapuloperoneal myopathy	Associate	25938801
Scleroderma Diffuse	Associate	33028580
Scleroderma Systemic	Associate	17907149, 26357964, 34344444, 34650102
Scleroderma Systemic	Stimulate	34504485
Severe Acute Respiratory Syndrome	Inhibit	33710120
Sexual Dysfunction Physiological	Associate	35920182
Sleep Apnea Obstructive	Associate	26636516
Smoke Inhalation Injury	Stimulate	36510964
Smooth Muscle Tumor	Associate	25607395, 32093627
Soft Tissue Neoplasms	Associate	26085647
Spondylitis Ankylosing	Stimulate	38634365
Squamous Cell Carcinoma of Head and Neck	Associate	22392407, 27884164, 29207019, 30431092, 30937621, 32155325, 32524367, 32711434, 33383808, 35132271, 36510964, 37026609, 37077062, 37147960, 37541622, 39695576 View all (1 more)
Squamous Cell Carcinoma of Head and Neck	Stimulate	27699902, 32035062
Status Asthmaticus	Associate	30361541
Stomach Neoplasms	Associate	12354798, 24322015, 25982683
Tertiary Lymphoid Structures	Stimulate	27487140
Thymus Hyperplasia	Associate	35147259
Thyroid Cancer Papillary	Associate	23918305, 27833974, 36242015
Thyroiditis Autoimmune	Stimulate	36834770
Tissue Adhesions	Associate	33860034, 40217245
Tuberous Sclerosis	Stimulate	23705901
Ulcer	Associate	15988806
Ureteral Obstruction	Stimulate	35443864
Urinary Bladder Diseases	Associate	21251216
Urinary Bladder Neurogenic	Stimulate	35662268
Uterine Cervicitis	Associate	19383239
Vascular Calcification	Associate	34833374
Venous Malformations Multiple Cutaneous and Mucosal	Associate	32867785
Vitreoretinopathy Proliferative	Associate	26305530, 27586653, 32638535, 35579905, 39486365

ACTA1 (actin alpha 1, skeletal muscle)