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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4629
Gene name	Myosin heavy chain 11
Gene symbol	MYH11
Synonyms (NCBI Gene)	AAT4FAA4SMHCSMMHCSMMS-1VSCM2
Chromosome	16
Chromosome location	16p13.11
Summary	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

Show/Hide all (48)

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

123

Show/Hide all (123)

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

Show/Hide all (1)

Transcription factor	Regulation	Reference
KLF5	Unknown	12707992

Show/Hide all (25)

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

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

4829

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal left ventricle morphology	Likely pathogenic	rs1057518938	RCV000414859
Aortic aneurysm, familial thoracic 4	Likely pathogenic; Pathogenic	rs2151259960, rs2151240720, rs2151219190, rs2151225126, rs2151244040, rs2151192622, rs2151219802, rs766136761, rs2151269056, rs2506094292, rs2506126021, rs8046180, rs2151260748, rs113989591, rs2506265794 View all (21 more)	RCV001814678 RCV002039117 RCV001895964 RCV001966399 RCV001951108 RCV001914128 RCV001963636 RCV002250131 RCV002250132 RCV002287211 RCV002468867 RCV001210362 RCV002604703 RCV002639999 RCV002828884 RCV002894146 RCV000194899 RCV003009596 RCV003046725 RCV003046579 RCV003154856 RCV003388263 RCV003515547 RCV003514177 RCV000015193 RCV003629324 RCV003630293 RCV003630676 RCV003630910 RCV003631007 RCV000550319 RCV000705664 RCV000696364 RCV000687071 RCV002259375 RCV001039458 RCV001049655 RCV001196926 RCV001219350
Aortic root aneurysm	Likely pathogenic	rs1057518938	RCV000414859
Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic; Pathogenic	rs397514037, rs1555459260	RCV003150197 RCV000613766 RCV002334385
Megacystis, microcolon, hypoperistalsis syndrome	Likely pathogenic; Pathogenic	rs112534511	RCV001844380
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2	Pathogenic; Likely pathogenic	rs2151236178, rs112534511, rs2151244350, rs786205435, rs797045725, rs2506177078	RCV001449893 RCV003987893 RCV002279754 RCV001449889 RCV001449890 RCV003984888
Mitral regurgitation	Likely pathogenic	rs1057518938	RCV000414859
Myopia	Likely pathogenic	rs1057518938	RCV000414859
Tricuspid regurgitation	Likely pathogenic	rs1057518938	RCV000414859
Visceral myopathy 1	Likely pathogenic; Pathogenic	rs786205435	RCV000172830

Show/Hide Unknown Diseases (41)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs75139720	RCV005904074
Altered myosin contractile function	Conflicting classifications of pathogenicity	rs150759461	RCV000148692
Aortic aneurysm	Uncertain significance	rs369409348	RCV000148693
Aortic aneurysm, familial thoracic 6	Benign; Likely benign	rs193922630	RCV000211469
Aortic dilatation	Uncertain significance	rs746615097	RCV000581573
Bicuspid aortic valve	Uncertain significance	rs552818350	RCV000584422
Cardiovascular phenotype	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs2272554, rs880071, rs34287137, rs1050113, rs113154524, rs35176378, rs112650390, rs113363750, rs34341838, rs4781689, rs61734198, rs112161189, rs148938946, rs371843272, rs147605116 View all (14 more)	RCV000621221 RCV000617498 RCV000617049 RCV000621372 RCV000617050 RCV000244209 RCV000619479 RCV000617088 RCV000618063 RCV000617028 RCV000617099 RCV000244203 RCV000249743 RCV000617147 RCV000617637 RCV000618000 RCV000249185 RCV000247569 RCV000243370 RCV000246055 RCV000253117 RCV000253046 RCV000246526 RCV000249420 RCV000246855 RCV000249195 RCV000249833 RCV000621360 RCV005405529
Cervical cancer	Conflicting classifications of pathogenicity; Benign	rs142546324, rs75139720	RCV005888290 RCV005904076
Cholangiocarcinoma	Benign; Likely benign	rs148682361, rs75139720	RCV005888787 RCV005904081
Chronic intestinal pseudoobstruction	Conflicting classifications of pathogenicity	rs747392139	RCV000771021
Colon adenocarcinoma	Conflicting classifications of pathogenicity	rs142546324	RCV005888289
Colorectal cancer	Conflicting classifications of pathogenicity	rs112161189	RCV005892094
Congenital aneurysm of ascending aorta	Conflicting classifications of pathogenicity; Uncertain significance	rs150759461, rs730880147, rs1050298581, rs376154041, rs749181134, rs1555560373	RCV000844919 RCV003228908 RCV001796026 RCV001796029 RCV001796028 RCV001796130
Connective tissue disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs113154524, rs76890940, rs142108062, rs199564260, rs112650390, rs149630866, rs150759461, rs137934837, rs747642850, rs142654744, rs112861184, rs184847335, rs185661462, rs147447269, rs200672270 View all (24 more)	RCV000659912 RCV000659920 RCV000659923 RCV000659926 RCV000680563 RCV000659903 RCV000659901 RCV000659922 RCV000680548 RCV000680551 RCV000680556 RCV000680559 RCV000659902 RCV000680562 RCV000659900 RCV000659905 RCV000659910 RCV000680561 RCV000659929 RCV000659927 RCV000659906 RCV000659911 RCV000659924 RCV000659917 RCV000680554 RCV000659925 RCV000659916 RCV000659915 RCV000659914 RCV000659913 RCV000659909 RCV000659908 RCV000659904 RCV000680550 RCV000680552 RCV000680553 RCV000680557 RCV000680558 RCV000680560
Ehlers-Danlos syndrome, classic type	Uncertain significance	rs779897931	RCV000581663
Esophageal and colonic dysmotility	Conflicting classifications of pathogenicity	rs1596675237	RCV000855720
Familial aortopathy	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs12931799, rs148682361, rs193922630, rs112990531, rs193922631, rs193922632, rs1055960218	RCV000030294 RCV000030295 RCV000030297 RCV000030298 RCV000030301 RCV000030304 RCV000780508
Familial cancer of breast	Conflicting classifications of pathogenicity; Benign; Likely benign	rs770424951, rs751597365, rs753012907	RCV005892108 RCV005904166 RCV005908907
Gastric cancer	Benign; Likely benign	rs766943222	RCV005870930
Hepatocellular carcinoma	Benign	rs2272555, rs75139720	RCV005903908 RCV005904075
Isolated thoracic aortic aneurysm	Conflicting classifications of pathogenicity; Uncertain significance	rs111854563, rs779019646, rs778315061, rs992494235, rs1187770545	RCV001374830 RCV001374832 RCV001374831 RCV001374828 RCV001374833
Joint hypermobility	Conflicting classifications of pathogenicity	rs150759461	RCV005410887
Loeys-Dietz syndrome	Conflicting classifications of pathogenicity	rs150759461	RCV000157329
Lung cancer	Benign; Likely benign	rs148682361, rs75139720	RCV005888788 RCV005904082
Malignant lymphoma, large B-cell, diffuse	Benign	rs2272555	RCV005903909
Malignant tumor of esophagus	Benign; Likely benign	rs148682361	RCV005888785
Marfan syndrome	Conflicting classifications of pathogenicity	rs369196744, rs147605116	RCV000157331 RCV000583183
MYH11-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	rs2040033952, rs775895834, rs1269119636, rs775964675, rs2041086288, rs764341540, rs748577941, rs111404182, rs150759461, rs111854563, rs137934837, rs779545900, rs781275376, rs1453794285, rs748394977 View all (64 more)	RCV003898638 RCV003920915 RCV003948452 RCV003426171 RCV003921190 RCV004752055 RCV003407892 RCV003917465 RCV003935256 RCV003927518 RCV003917540 RCV003896128 RCV004750727 RCV003916456 RCV003936597 RCV003927703 RCV004751352 RCV004751350 RCV003927710 RCV003907636 RCV003398909 RCV003937651 RCV003967450 RCV003947544 RCV004751351 RCV003927708 RCV003937650 RCV003955107 RCV003967453 RCV003967452 RCV003967451 RCV003907794 RCV003955317 RCV003937886 RCV003920018 RCV003897588 RCV003939920 RCV003967683 RCV003930026 RCV003930025 RCV003410470 RCV004751293 RCV003893519 RCV003898955 RCV003982240 RCV003954879 RCV004731584 RCV004731585 RCV003897728 RCV003969895 RCV003418092 RCV003950358 RCV003897846 RCV003932650 RCV003912640 RCV004751547 RCV004751530 RCV003962519 RCV003900175 RCV003935453 RCV003892389 RCV003945481 RCV003905657 RCV003965283 RCV003935731 RCV003953099 RCV003424265 RCV003403633 RCV003392541 RCV004731017 RCV003892555 RCV003392583 RCV003396347 RCV003918260 RCV003396359 RCV004751903 RCV003425979 RCV003898175 RCV003918763 RCV003945909 RCV004731097
Ovarian serous cystadenocarcinoma	Uncertain significance; Benign; Likely benign	rs149964928, rs75139720, rs2272554	RCV005901617 RCV005904079 RCV005908928
Pulmonic stenosis	Conflicting classifications of pathogenicity	rs1555554139	RCV000583280
Sarcoma	Uncertain significance; Benign	rs376779423, rs75139720	RCV005895023 RCV005904078
See cases	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs202004234, rs200223639, rs571613839, rs760793367	RCV002287384 RCV004584383 RCV004584399 RCV004584404
Thoracic aortic aneurysm or dissection	Uncertain significance	rs1441546016	RCV005253884
Thymoma	Benign	rs75139720, rs751597365	RCV005904080 RCV005904167
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs112474866, rs2272554	RCV005899966 RCV005908929 RCV005908911
Uterine carcinosarcoma	Benign; Likely benign	rs148682361	RCV005888786
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs148682361	RCV005888789
Uveal melanoma	Benign	rs75139720	RCV005904077
Visceral myopathy 2	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs769802444, rs1399080640, rs140550319, rs758102556, rs777426396, rs764285909, rs769227102, rs2151248140, rs147127121, rs370934806, rs756408490, rs1160451543, rs2272554, rs880071, rs1050113 View all (125 more)	RCV002504482 RCV002486404 RCV002499672 RCV002476685 RCV002504606 RCV002501957 RCV002501961 RCV002488610 RCV002506816 RCV002503289 RCV002489858 RCV002492311 RCV001775602 RCV001775604 RCV001775606 RCV001775616 RCV002503624 RCV002503450 RCV002479844 RCV003224622 RCV002487010 RCV002496154 RCV002478413 RCV003224171 RCV002485203 RCV002503709 RCV002485207 RCV002478617 RCV002492811 RCV002478616 RCV002492810 RCV002492809 RCV002500538 RCV002503708 RCV002485206 RCV002485205 RCV002485204 RCV003448286 RCV002503856 RCV005016649 RCV002487148 RCV005396855 RCV002494787 RCV002500947 RCV003224244 RCV005396854 RCV002487158 RCV002480046 RCV002482869 RCV002502237 RCV005010307 RCV002481276 RCV002481300 RCV002506039 RCV002502530 RCV002502614 RCV002489014 RCV002481387 RCV005010385 RCV002475955 RCV002496879 RCV002496878 RCV002489194 RCV002489208 RCV002481591 RCV002475987 RCV002476068 RCV002497029 RCV002481737 RCV002496467 RCV002482921 RCV002483420 RCV002483421 RCV002497127 RCV002497126 RCV002491158 RCV002498875 RCV002498947 RCV002491327 RCV002491328 RCV002499005 RCV002483732 RCV002492998 RCV002507093 RCV002499077 RCV002483829 RCV002493074 RCV002477473 RCV002485570 RCV002493165 RCV002507219 RCV002485765 RCV002477527 RCV002485955 RCV003224449 RCV001449895 RCV003224466 RCV002477766 RCV002493440 RCV002501143 RCV002487638 RCV002495183 RCV001776054 RCV001776051 RCV001776048 RCV001449894 RCV003224501 RCV002479174 RCV002489506 RCV002482065 RCV002497368 RCV002479244 RCV002505568 RCV002479253 RCV002482149 RCV002491376 RCV002480604 RCV002484046 RCV002497669 RCV002491494 RCV002484055 RCV002480611 RCV002491555 RCV002505760 RCV002491495 RCV005012586 RCV002480598 RCV002480638 RCV002483995 RCV002497646 RCV002484019 RCV002483971 RCV002497666 RCV002491525 RCV002497654 RCV002497633 RCV002480595 RCV002505761 RCV003224525 RCV002491866 RCV002486206
Wolff-Parkinson-White pattern	Uncertain significance	rs1317809527	RCV000656148
Yolk sac tumor	Conflicting classifications of pathogenicity	rs730880147	RCV006253846

Show/Hide Text Mining Associations (91)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)