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.	4629
Gene name Gene Name - the full gene name approved by the HGNC.	Myosin heavy chain 11
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MYH11
Synonyms (NCBI Gene) Gene synonyms aliases	AAT4, FAA4, SMHC, SMMHC, SMMS-1, VSCM2
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16p13.11
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It f

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SNP ID	Visualize variation	Clinical significance	Consequence
rs35035518	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs61734198	C>T	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs61734199	C>A,T	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs111404182	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs111936548	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Coding sequence variant, missense variant
rs112161189	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, missense variant
rs112861184	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Synonymous variant, coding sequence variant
rs113089286	C>T	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs113154524	C>T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Synonymous variant, coding sequence variant
rs113363750	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign, benign	Synonymous variant, coding sequence variant, missense variant
rs113577450	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs113696032	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs137988790	G>A,C,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Synonymous variant, coding sequence variant, missense variant
rs138977949	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs140267000	G>A,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Synonymous variant, coding sequence variant
rs146388001	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs147447269	T>G	Conflicting-interpretations-of-pathogenicity, likely-benign, benign, uncertain-significance	Coding sequence variant, missense variant
rs147605116	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs150759461	G>A	Conflicting-interpretations-of-pathogenicity, not-provided, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs182700462	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs184847335	A>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs185661462	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, benign, benign-likely-benign	Coding sequence variant, missense variant
rs189193825	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs200672270	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs201198815	C>G	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs201831933	A>G,T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs201991156	C>G,T	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs267606901	C>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs267606902	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs370658839	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs371843272	AAAAGCA>A,C	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs554607161	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs563865467	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs730880147	CTT>-	Uncertain-significance, likely-pathogenic	Inframe deletion, coding sequence variant
rs749497185	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs758885290	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs771297865	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs773998062	A>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs774336703	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs781085663	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs786205435	T>A	Likely-pathogenic	Coding sequence variant, stop gained
rs794727439	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs794728672	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs797045725	TCCAGCTCTGTCTTTAGGGCCTCCAGCTCCTCGCCGAGGTCTCGCTTCT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064795023	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555459260	T>C	Likely-pathogenic	Missense variant, initiator codon variant
rs1555554098	TGCACCTGCGCCTCCAGCTTCTTCTTCTTATGTTCCACCTCCTGCTTGGCCTGGCCCAGGACCCGCAGCTCC>-	Pathogenic	Inframe deletion, coding sequence variant
rs1596904322	G>A	Likely-pathogenic	Coding sequence variant, missense variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT635063	hsa-miR-1182	HITS-CLIP	23824327
MIRT635062	hsa-miR-130a-3p	HITS-CLIP	23824327
MIRT635061	hsa-miR-130b-3p	HITS-CLIP	23824327
MIRT635060	hsa-miR-301a-3p	HITS-CLIP	23824327
MIRT635059	hsa-miR-301b-3p	HITS-CLIP	23824327
MIRT635057	hsa-miR-3666	HITS-CLIP	23824327
MIRT635058	hsa-miR-4295	HITS-CLIP	23824327
MIRT635056	hsa-miR-454-3p	HITS-CLIP	23824327
MIRT635055	hsa-miR-1322	HITS-CLIP	23824327
MIRT635054	hsa-miR-1267	HITS-CLIP	23824327
MIRT635053	hsa-miR-367-5p	HITS-CLIP	23824327
MIRT635052	hsa-miR-3135b	HITS-CLIP	23824327
MIRT635051	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT635050	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT635048	hsa-miR-3652	HITS-CLIP	23824327
MIRT635049	hsa-miR-4430	HITS-CLIP	23824327
MIRT635047	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT635046	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT635045	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT635044	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT635043	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT486507	hsa-miR-660-5p	PAR-CLIP	23592263
MIRT486506	hsa-miR-1296-3p	PAR-CLIP	23592263
MIRT486505	hsa-miR-4481	PAR-CLIP	23592263
MIRT486504	hsa-miR-4745-5p	PAR-CLIP	23592263
MIRT486503	hsa-miR-6781-5p	PAR-CLIP	23592263
MIRT486502	hsa-miR-128-1-5p	PAR-CLIP	23592263
MIRT486501	hsa-miR-128-2-5p	PAR-CLIP	23592263
MIRT486500	hsa-miR-1237-5p	PAR-CLIP	23592263
MIRT486499	hsa-miR-4488	PAR-CLIP	23592263
MIRT486498	hsa-miR-4697-5p	PAR-CLIP	23592263
MIRT486497	hsa-miR-6846-5p	PAR-CLIP	23592263
MIRT486495	hsa-miR-6848-5p	PAR-CLIP	23592263
MIRT486496	hsa-miR-4447	PAR-CLIP	23592263
MIRT486494	hsa-miR-4472	PAR-CLIP	23592263
MIRT486493	hsa-miR-30c-1-3p	PAR-CLIP	23592263
MIRT486492	hsa-miR-30c-2-3p	PAR-CLIP	23592263
MIRT486491	hsa-miR-6788-5p	PAR-CLIP	23592263
MIRT486490	hsa-miR-1273h-5p	PAR-CLIP	23592263
MIRT486489	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT486488	hsa-miR-3689a-3p	PAR-CLIP	23592263
MIRT486487	hsa-miR-3689b-3p	PAR-CLIP	23592263
MIRT486486	hsa-miR-3689c	PAR-CLIP	23592263
MIRT486485	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT486484	hsa-miR-6780a-5p	PAR-CLIP	23592263
MIRT486483	hsa-miR-887-5p	PAR-CLIP	23592263
MIRT635063	hsa-miR-1182	HITS-CLIP	23824327
MIRT635062	hsa-miR-130a-3p	HITS-CLIP	23824327
MIRT635061	hsa-miR-130b-3p	HITS-CLIP	23824327
MIRT635060	hsa-miR-301a-3p	HITS-CLIP	23824327
MIRT635059	hsa-miR-301b-3p	HITS-CLIP	23824327
MIRT635057	hsa-miR-3666	HITS-CLIP	23824327
MIRT635058	hsa-miR-4295	HITS-CLIP	23824327
MIRT635056	hsa-miR-454-3p	HITS-CLIP	23824327
MIRT635055	hsa-miR-1322	HITS-CLIP	23824327
MIRT635054	hsa-miR-1267	HITS-CLIP	23824327
MIRT635053	hsa-miR-367-5p	HITS-CLIP	23824327
MIRT635052	hsa-miR-3135b	HITS-CLIP	23824327
MIRT635051	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT635050	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT635048	hsa-miR-3652	HITS-CLIP	23824327
MIRT635049	hsa-miR-4430	HITS-CLIP	23824327
MIRT635047	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT635046	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT635045	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT635044	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT635043	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT486507	hsa-miR-660-5p	PAR-CLIP	23592263
MIRT486506	hsa-miR-1296-3p	PAR-CLIP	23592263
MIRT486505	hsa-miR-4481	PAR-CLIP	23592263
MIRT486504	hsa-miR-4745-5p	PAR-CLIP	23592263
MIRT486503	hsa-miR-6781-5p	PAR-CLIP	23592263
MIRT486502	hsa-miR-128-1-5p	PAR-CLIP	23592263
MIRT486501	hsa-miR-128-2-5p	PAR-CLIP	23592263
MIRT486500	hsa-miR-1237-5p	PAR-CLIP	23592263
MIRT486499	hsa-miR-4488	PAR-CLIP	23592263
MIRT486498	hsa-miR-4697-5p	PAR-CLIP	23592263
MIRT486497	hsa-miR-6846-5p	PAR-CLIP	23592263
MIRT486495	hsa-miR-6848-5p	PAR-CLIP	23592263
MIRT486496	hsa-miR-4447	PAR-CLIP	23592263
MIRT486494	hsa-miR-4472	PAR-CLIP	23592263
MIRT486493	hsa-miR-30c-1-3p	PAR-CLIP	23592263
MIRT486492	hsa-miR-30c-2-3p	PAR-CLIP	23592263
MIRT486491	hsa-miR-6788-5p	PAR-CLIP	23592263
MIRT486490	hsa-miR-1273h-5p	PAR-CLIP	23592263
MIRT486489	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT486488	hsa-miR-3689a-3p	PAR-CLIP	23592263
MIRT486487	hsa-miR-3689b-3p	PAR-CLIP	23592263
MIRT486486	hsa-miR-3689c	PAR-CLIP	23592263
MIRT486485	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT486484	hsa-miR-6780a-5p	PAR-CLIP	23592263
MIRT486483	hsa-miR-887-5p	PAR-CLIP	23592263
MIRT1168243	hsa-miR-21	CLIP-seq
MIRT1168244	hsa-miR-4731-5p	CLIP-seq
MIRT1168245	hsa-miR-578	CLIP-seq
MIRT1168246	hsa-miR-590-5p	CLIP-seq
MIRT1168247	hsa-miR-622	CLIP-seq
MIRT1168248	hsa-miR-629	CLIP-seq
MIRT1168249	hsa-miR-643	CLIP-seq
MIRT2048489	hsa-miR-1253	CLIP-seq
MIRT2048490	hsa-miR-140-3p	CLIP-seq
MIRT2048491	hsa-miR-325	CLIP-seq
MIRT2048492	hsa-miR-3649	CLIP-seq
MIRT2048493	hsa-miR-3934	CLIP-seq
MIRT2048494	hsa-miR-3978	CLIP-seq
MIRT2048495	hsa-miR-4464	CLIP-seq
MIRT2048496	hsa-miR-4748	CLIP-seq
MIRT2048497	hsa-miR-552	CLIP-seq
MIRT2048490	hsa-miR-140-3p	CLIP-seq
MIRT2277365	hsa-miR-3177-5p	CLIP-seq
MIRT2277366	hsa-miR-3650	CLIP-seq
MIRT2048493	hsa-miR-3934	CLIP-seq
MIRT2048497	hsa-miR-552	CLIP-seq
MIRT2454669	hsa-miR-122	CLIP-seq
MIRT2454670	hsa-miR-130a	CLIP-seq
MIRT2454671	hsa-miR-130b	CLIP-seq
MIRT2454672	hsa-miR-301a	CLIP-seq
MIRT2454673	hsa-miR-301b	CLIP-seq
MIRT2454674	hsa-miR-454	CLIP-seq
MIRT2454675	hsa-miR-593	CLIP-seq
MIRT2454669	hsa-miR-122	CLIP-seq
MIRT2454675	hsa-miR-593	CLIP-seq
MIRT2454675	hsa-miR-593	CLIP-seq

Transcription factors

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Transcription factor	Regulation	Reference
KLF5	Unknown	12707992

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000146	Function	Microfilament motor activity	IBA
GO:0000166	Function	Nucleotide binding	IEA
GO:0003774	Function	Cytoskeletal motor activity	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	19328794
GO:0005516	Function	Calmodulin binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	TAS
GO:0005859	Component	Muscle myosin complex	IEA
GO:0005859	Component	Muscle myosin complex	TAS	7684189
GO:0006939	Process	Smooth muscle contraction	ISS
GO:0008307	Function	Structural constituent of muscle	IMP	16444274
GO:0016459	Component	Myosin complex	IEA
GO:0016460	Component	Myosin II complex	IBA
GO:0030241	Process	Skeletal muscle myosin thick filament assembly	ISS
GO:0031032	Process	Actomyosin structure organization	IBA
GO:0032982	Component	Myosin filament	IBA
GO:0032982	Component	Myosin filament	IEA
GO:0042470	Component	Melanosome	IEA
GO:0048251	Process	Elastic fiber assembly	IMP	16444274
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
GO:0055013	Process	Cardiac muscle cell development	IMP	16444274
GO:0070062	Component	Extracellular exosome	HDA	23533145

MIM	HGNC	e!Ensembl
160745	7569	ENSG00000133392

Protein

UniProt ID

P35749

Protein name

Myosin-11 (Myosin heavy chain 11) (Myosin heavy chain, smooth muscle isoform) (SMMHC)

Protein function

Muscle contraction.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02736	Myosin_N	33 → 73	Myosin N-terminal SH3-like domain	Domain
PF00063	Myosin_head	87 → 771	Myosin head (motor domain)	Domain
PF01576	Myosin_tail_1	848 → 1928	Myosin tail	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: Smooth muscle; expressed in the umbilical artery, bladder, esophagus and trachea. Isoform 1 is mostly found in slowly contracting tonic muscles. {ECO:0000269|PubMed:16000639}.

Sequence

MAQKGQLSDDEKFLFVDKNFINSPVAQADWAAKRLVWVPSEKQGFEAASIKEEKGDEVVV
ELVENGKKVTVGKDDIQKMNPPKFSKVEDMAELTCLNEASVLHNLRERYFSGLIYTYSGL
FCVVVNPYKHLPIYSEKIVDMYKGKKRHEMPPHIYAIADTAYRSMLQDREDQSILCTGES
GAGKTENTKKVIQYLAVVASSHKGKKDTSITGELEKQLLQANPILEAFGNAKTVKNDNSS
RFGKFIRINFDVTGYIVGANIETYLLEKSRAIRQARDERTFHIFYYMIAGAKEKMRSDLL
LEGFNNYTFLSNGFVPIPAAQDDEMFQETVEAMAIMGFSEEEQLSILKVVSSVLQLGNIV
FKKERNTDQASMPDNTAAQKVCHLMGINVTDFTRSILTPRIKVGRDVVQKAQTKEQADFA
VEALAKATYERLFRWILTRVNKALDKTHRQGASFLGILDIAGFEIFEVNSFEQLCINYTN
EKLQQLFNHTMFILEQEEYQREGIEWNFIDFGLDLQPCIELIERPNNPPGVLALLDEECW
FPKATDKSFVEKLCTEQGSHPKFQKPKQLKDKTEFSIIHYAGKVDYNASAWLTKNMDPLN
DNVTSLLNASSDKFVADLWKDVDRIVGLDQMAKMTESSLPSASKTKKGMFRTVGQLYKEQ
LGKLMTTLRNTTPNFVRCIIPNHEKRSGKLDAFLVLEQLRCNGVLEGIRICRQGFPNRIV
FQEFRQRYEILAANAIPKGFMDGKQACILMIKALELDPNLYRIGQSKIFFRTGVLAHLEE
ERDLKITDVIMAFQAMCRGYLARKAFAKRQQQLTAMKVIQRNCAAYLKLRNWQWWRLFTK
VKPLLQVTRQEEEMQAKEDELQKTKERQQKAENELKELEQKHSQLTEEKNLLQEQLQAET
ELYAEAEEMRVRLAAKKQELEEILHEMEARLEEEEDRGQQLQAERKKMAQQMLDLEEQLE
EEEAARQKLQLEKVTAEAKIKKLEDEILVMDDQNNKLSKERKLLEERISDLTTNLAEEEE
KAKNLTKLKNKHESMISELEVRLKKEEKSRQELEKLKRKLEGDASDFHEQIADLQAQIAE
LKMQLAKKEEELQAALARLDDEIAQKNNALKKIRELEGHISDLQEDLDSERAARNKAEKQ
KRDLGEELEALKTELEDTLDSTATQQELRAKREQEVTVLKKALDEETRSHEAQVQEMRQK
HAQAVEELTEQLEQFKRAKANLDKNKQTLEKENADLAGELRVLGQAKQEVEHKKKKLEAQ
VQELQSKCSDGERARAELNDKVHKLQNEVESVTGMLNEAEGKAIKLAKDVASLSSQLQDT
QELLQEETRQKLNVSTKLRQLEEERNSLQDQLDEEMEAKQNLERHISTLNIQLSDSKKKL
QDFASTVEALEEGKKRFQKEIENLTQQYEEKAAAYDKLEKTKNRLQQELDDLVVDLDNQR
QLVSNLEKKQRKFDQLLAEEKNISSKYADERDRAEAEAREKETKALSLARALEEALEAKE
ELERTNKMLKAEMEDLVSSKDDVGKNVHELEKSKRALETQMEEMKTQLEELEDELQATED
AKLRLEVNMQALKGQFERDLQARDEQNEEKRRQLQRQLHEYETELEDERKQRALAAAAKK
KLEGDLKDLELQADSAIKGREEAIKQLRKLQAQMKDFQRELEDARASRDEIFATAKENEK
KAKSLEADLMQLQEDLAAAERARKQADLEKEELAEELASSLSGRNALQDEKRRLEARIAQ
LEEELEEEQGNMEAMSDRVRKATQQAEQLSNELATERSTAQKNESARQQLERQNKELRSK
LHEMEGAVKSKFKSTIAALEAKIAQLEEQVEQEAREKQAATKSLKQKDKKLKEILLQVED
ERKMAEQYKEQAEKGNARVKQLKRQLEEAEEESQRINANRRKLQRELDEATESNEAMGRE
VNALKSKLRRGNETSFVPSRRSGGRRVIENADGSEEETDTRDADFNGTKASE

Sequence length

1972

Interactions

View interactions

	KEGG		Reactome
	Virion - Lassa virus and SFTS virus Vascular smooth muscle contraction Tight junction Regulation of actin cytoskeleton Motor proteins Cytoskeleton in muscle cells Pathogenic Escherichia coli infection		Smooth Muscle Contraction RHO GTPases activate PAKs

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
Aortic Aneurysm	aortic aneurysm, familial thoracic 4	rs1555554098, rs267606902, rs1567692384, rs397514037, rs1596712899, rs2041090817, rs1439991530, rs8046180, rs797045725	N/A
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Megacystis-microcolon-intestinal hypoperistalsis syndrome 2	rs786205435, rs797045725	N/A
Thoracic Aortic Aneurysm And Aortic Dissection	familial thoracic aortic aneurysm and aortic dissection	rs1555459260, rs267606902, rs397514037	N/A
Visceral Myopathy	Visceral myopathy 1	rs1596904322, rs786205435	N/A

Show/Hide Unknown Diseases (12)

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.
Atrial Fibrillation	Atrial fibrillation	N/A	N/A	GWAS
Bicuspid aortic valve	bicuspid aortic valve	N/A	N/A	ClinVar
Congenital Aneurysm Of Ascending Aorta	congenital aneurysm of ascending aorta	N/A	N/A	ClinVar
Connective Tissue Disease	Connective tissue disorder	N/A	N/A	ClinVar
Coronary artery disease	Coronary artery disease	N/A	N/A	GWAS
Ehlers-Danlos Syndrome	Ehlers-Danlos syndrome, classic type	N/A	N/A	ClinVar
Heart Failure	Heart failure	N/A	N/A	GWAS
Loeys-Dietz Syndrome	loeys-dietz syndrome	N/A	N/A	ClinVar
Marfan Syndrome	marfan syndrome	N/A	N/A	ClinVar
Psoriasis	Psoriasis	N/A	N/A	GWAS
Thoracic Aortic Aneurysm	Isolated thoracic aortic aneurysm	N/A	N/A	ClinVar
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White pattern	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (91)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acute erythroleukemia	Associate	15224374
Alzheimer Disease	Associate	32966694, 33083483
Aneurysm	Associate	32141441, 34244757
Angiomyoma	Associate	37889065
Aortic Aneurysm Abdominal	Stimulate	30004237
Aortic Aneurysm Abdominal	Associate	34852854
Aortic Aneurysm Familial Abdominal 1	Associate	26017485
Aortic Aneurysm Familial Thoracic 1	Associate	23099432, 29510914, 39705883
Aortic Aneurysm Thoracic	Associate	21937134, 23099432, 26017485, 30526509, 40225146
Aortic Aneurysm Thoracic	Inhibit	27394642
Aortic Coarctation	Associate	34425910
Aortic Dissection	Associate	21698135, 21937134, 22968129, 28855619, 33083483, 34672437, 35078481, 40225146
Aortic Dissection	Inhibit	33910387
Atherosclerosis	Associate	30529831
Breast Neoplasms	Associate	18796164
Carcinoma Intraductal Noninfiltrating	Associate	26397772
Cardiomyopathy Dilated	Associate	31024045
Cardiovascular Diseases	Associate	31682178
Chagas Disease	Associate	22543060
Chromosome 16 trisomy	Associate	7858261
Chromosome Aberrations	Associate	7858261
Colonic Neoplasms	Associate	28742206
Colorectal Neoplasms	Associate	18391202, 18796164, 18941465, 25227818, 30786729, 32953885, 39294858
Congenital Abnormalities	Associate	35885957
Connective Tissue Diseases	Associate	30675029
Coronary Disease	Associate	31682178
Crisponi syndrome	Associate	28742206
Death	Associate	35622005, 35794567
Dementia	Associate	32966694
Diabetes Gestational	Associate	37873933
Diabetic Nephropathies	Inhibit	33568476
Disease	Associate	28089879
Ductus Arteriosus Patent	Associate	17666408, 21937134, 22968129, 27418595, 34672437
Dystonia 16	Associate	21275954, 23160462, 27843138, 35622005
Endometrial Neoplasms	Stimulate	36702668
Endometriosis	Associate	36702668
Eosinophilia	Associate	15224374, 18024381
Gallbladder Neoplasms	Associate	37480569
Gastroparesis	Inhibit	29052298
Genetic Diseases Inborn	Associate	21198299
Genomic Instability	Associate	36995132
Graves Ophthalmopathy	Stimulate	33934566
Graves Ophthalmopathy	Associate	38536014
Heart Defects Congenital	Associate	27418595
Heart Diseases	Associate	22543060, 32037394, 35078481
Histiocytoma Benign Fibrous	Associate	12296754
Hyperplasia	Associate	17666408
Hypertension	Associate	30004237
Hypospadias	Associate	31462596
Hypoxia Brain	Inhibit	32098916
Inflammation	Associate	33934566
Intestinal Pseudo Obstruction	Associate	34672437
Intracranial Aneurysm	Associate	24615040, 29115560
Isodicentric Chromosome 15 Syndrome	Associate	15855281, 16989659, 17571080, 18024381, 18663147, 21198299, 21638519, 22875911, 23160462, 24055056, 25266220, 30850577, 34010414, 34117074, 34730684 View all (6 more)
Juvenile polyposis syndrome	Associate	18391202
Leiomyosarcoma	Associate	28893210
Leukemia	Associate	12791658, 14736823, 16102112, 16670269, 19901261, 20060365, 21638519, 25079347, 29427994, 30742053, 30850577, 31896782
Leukemia Lymphoma Adult T Cell	Associate	21354057
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	9207416
Leukemia Myeloid Acute	Associate	12745661, 12842988, 14736823, 15224374, 15226186, 15855281, 16630339, 18024381, 18796164, 19901261, 20589720, 21198299, 21494256, 21638519, 22228403 View all (34 more)
Leukemia Myelomonocytic Acute	Associate	10590083, 15269306, 9207416
Leukemia Myelomonocytic Chronic	Associate	7858261
Leukemia T Cell	Associate	16989659, 9207416
Marfan Syndrome	Inhibit	35052435
Megacystis microcolon intestinal hypoperistalsis syndrome	Associate	25407000, 31427716, 33031641, 34672437, 40225146
Mesenteric Vascular Occlusion	Associate	17666408
Muscular Diseases	Associate	29453416
Myostatin related muscle hypertrophy	Associate	29505605
Necrosis	Associate	38013282
Neoplasm Metastasis	Stimulate	37598251
Neoplasms	Associate	18391202, 18941465, 25227818, 25578962, 32075558, 35799671, 38013282, 39294858
Neurofibromatosis 2	Associate	38115252
Neuroma Acoustic	Associate	38115252
Ovarian Neoplasms	Associate	38084551
Peutz Jeghers Syndrome	Associate	18391202, 18796164
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	11167739, 16989659, 18422993, 31612466, 33971801, 9074414, 9609531
Prostatic Neoplasms	Associate	18796164, 34860853, 35799671
Prune Belly Syndrome	Associate	25407000
Pterygium	Associate	36187094
Sarcoma Myeloid	Associate	36916780
Severe Acute Respiratory Syndrome	Associate	36834879
Smooth Muscle Tumor	Associate	17666408, 25407000
Stomach Neoplasms	Associate	27624754
Sveinsson Chorioretinal Atrophy	Associate	34244757
Thoracic Diseases	Associate	25407000
Thrombocytopenia	Associate	35622005
Ureteral Obstruction	Associate	38013282
Urinary Bladder Diseases	Associate	25407000
Urinary Bladder Neoplasms	Associate	33184436, 36472061
Uropathy distal obstructive polydactyly	Associate	36995132
Uterine Cervical Neoplasms	Associate	25786458

MYH11 (myosin heavy chain 11)