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	1674
Gene name	Desmin
Gene symbol	DES
Synonyms (NCBI Gene)	CDCD3CSM1CSM2LGMD1DLGMD1ELGMD2R
Chromosome	2
Chromosome location	2q35
Summary	This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with

Show/Hide all (82)

SNP ID	Visualize variation	Clinical significance	Consequence
rs41272699	C>T	Benign-likely-benign, pathogenic, likely-benign, benign, uncertain-significance	Coding sequence variant, missense variant
rs57496341	T>C,G	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs57639980	T>C	Pathogenic	Coding sequence variant, missense variant
rs57955682	T>C	Not-provided, pathogenic	Coding sequence variant, missense variant
rs57965306	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs58409037	AGGCCAGTG>-	Pathogenic	Coding sequence variant, inframe deletion
rs58687088	ACA>-	Not-provided, pathogenic	Coding sequence variant, inframe deletion
rs58898021	G>C	Pathogenic	Coding sequence variant, missense variant
rs59308628	T>C	Pathogenic	Coding sequence variant, missense variant
rs59962885	G>A,C,T	Pathogenic, not-provided, uncertain-significance	Coding sequence variant, missense variant
rs60538473	CGCGCGTCGACGTCGAGCGCG>-	Not-provided, pathogenic	Coding sequence variant, inframe deletion
rs60794845	C>A,T	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs60798368	C>T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs61130669	G>T	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs61368398	G>A,C,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs61726467	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, stop gained
rs62635763	C>A,T	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs62636490	G>A,T	Not-provided, pathogenic	Coding sequence variant, missense variant, stop gained
rs62636491	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs62636492	C>G,T	Not-provided, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs62636495	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs112224037	G>A	Likely-pathogenic	Splice donor variant
rs121913000	G>C	Pathogenic	Coding sequence variant, missense variant
rs121913001	A>G,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs121913002	C>A,G,T	Uncertain-significance, benign, pathogenic, conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, missense variant
rs121913003	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121913004	A>C	Not-provided, pathogenic	Coding sequence variant, missense variant
rs121913005	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs140375681	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs144901249	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs147327878	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs148947510	A>C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs150974575	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs199972656	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs201458068	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs267607482	A>G	Pathogenic, not-provided	Coding sequence variant, missense variant
rs267607483	A>G,T	Pathogenic, uncertain-significance	Intron variant
rs267607485	A>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs267607486	G>A,C	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs267607490	C>T	Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs267607495	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs267607499	A>G,T	Likely-pathogenic, uncertain-significance, not-provided	Coding sequence variant, missense variant
rs370239228	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs397516691	A>C,G	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant
rs397516694	G>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs397516695	T>A,C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs397516698	G>A,C,T	Pathogenic, likely-pathogenic	Splice donor variant
rs398122940	A>G	Pathogenic	Splice acceptor variant
rs546741834	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs578191306	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, synonymous variant, coding sequence variant
rs727504448	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs730880289	AG>-	Pathogenic	Intron variant
rs748323823	G>A,C	Pathogenic, likely-pathogenic, uncertain-significance	Splice donor variant
rs759320891	C>A,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs763599850	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs776786349	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs781590560	C>T	Pathogenic	Coding sequence variant, stop gained
rs794728986	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs794728991	A>C	Likely-pathogenic	Stop lost, terminator codon variant
rs794728992	C>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs794728994	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs794728996	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs876657769	->C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs886041454	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs886043000	A>T	Pathogenic	Stop gained, coding sequence variant
rs886043080	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs886044078	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs886044329	T>C	Likely-pathogenic, uncertain-significance	Stop lost, terminator codon variant
rs1057523274	A>G	Likely-pathogenic	Missense variant, initiator codon variant
rs1060503165	C>T	Pathogenic	Coding sequence variant, stop gained
rs1064794869	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1114167327	ACGG>-	Pathogenic	Coding sequence variant, stop gained
rs1114167332	CAGGTGGAGGTGCTCACTAACCAGCGCG>GCGT	Pathogenic	Inframe indel, coding sequence variant
rs1399282762	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1400593451	A>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1411703397	A>C,T	Pathogenic	Missense variant, coding sequence variant
rs1553603239	GCAGGAGCT>-	Pathogenic	Coding sequence variant, inframe deletion
rs1553603566	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1553603732	CCCATCCAGACCTACTC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559352440	C>T	Pathogenic	Coding sequence variant, stop gained
rs1575014889	AGGACAACATTGCGCGCC>-	Pathogenic	Inframe deletion, coding sequence variant
rs1575014943	AAGGATGAGATGGCCCGCCATC>-	Pathogenic	Frameshift variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments
MIRT933266	hsa-miR-3127-5p	CLIP-seq
MIRT933267	hsa-miR-3938	CLIP-seq
MIRT933268	hsa-miR-3943	CLIP-seq
MIRT933269	hsa-miR-4270	CLIP-seq
MIRT933270	hsa-miR-4323	CLIP-seq
MIRT933271	hsa-miR-4441	CLIP-seq
MIRT933272	hsa-miR-4450	CLIP-seq
MIRT933273	hsa-miR-4519	CLIP-seq
MIRT933274	hsa-miR-542-5p	CLIP-seq
MIRT933275	hsa-miR-642a	CLIP-seq
MIRT933276	hsa-miR-643	CLIP-seq
MIRT2211686	hsa-miR-103a	CLIP-seq
MIRT2211687	hsa-miR-107	CLIP-seq
MIRT2211688	hsa-miR-1184	CLIP-seq
MIRT2211689	hsa-miR-1225-3p	CLIP-seq
MIRT2211690	hsa-miR-1268	CLIP-seq
MIRT2211691	hsa-miR-1268b	CLIP-seq
MIRT2211692	hsa-miR-1909	CLIP-seq
MIRT2211693	hsa-miR-214	CLIP-seq
MIRT2211694	hsa-miR-3150a-3p	CLIP-seq
MIRT2211695	hsa-miR-3175	CLIP-seq
MIRT2211696	hsa-miR-3178	CLIP-seq
MIRT2211697	hsa-miR-3619-5p	CLIP-seq
MIRT2211698	hsa-miR-3925-3p	CLIP-seq
MIRT2211699	hsa-miR-4492	CLIP-seq
MIRT2211700	hsa-miR-4498	CLIP-seq
MIRT2211701	hsa-miR-4505	CLIP-seq
MIRT2211702	hsa-miR-4667-5p	CLIP-seq
MIRT2211703	hsa-miR-4700-5p	CLIP-seq
MIRT2211704	hsa-miR-4728-5p	CLIP-seq
MIRT2211705	hsa-miR-4731-5p	CLIP-seq
MIRT2211706	hsa-miR-4768-5p	CLIP-seq
MIRT2211707	hsa-miR-520a-5p	CLIP-seq
MIRT2211708	hsa-miR-525-5p	CLIP-seq
MIRT2211709	hsa-miR-541	CLIP-seq
MIRT2211710	hsa-miR-654-5p	CLIP-seq
MIRT2211711	hsa-miR-761	CLIP-seq
MIRT2211712	hsa-miR-762	CLIP-seq
MIRT2211713	hsa-miR-766	CLIP-seq
MIRT2211714	hsa-miR-939	CLIP-seq

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Transcription factor	Regulation	Reference
TRIM16	Repression	22009481

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005200	Function	Structural constituent of cytoskeleton	IBA
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	9736733
GO:0005515	Function	Protein binding	IPI	11353857, 16923132, 20706999, 21135508, 23615443, 24940650, 25416956, 26816005, 26871637, 27107012, 27733623, 28470624, 28514442, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005635	Component	Nuclear envelope	IEA
GO:0005635	Component	Nuclear envelope	ISS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005882	Component	Intermediate filament	IBA
GO:0005882	Component	Intermediate filament	IEA
GO:0005882	Component	Intermediate filament	IEA
GO:0005882	Component	Intermediate filament	TAS	9736733
GO:0005886	Component	Plasma membrane	IEA
GO:0005911	Component	Cell-cell junction	IBA
GO:0005911	Component	Cell-cell junction	IEA
GO:0005916	Component	Fascia adherens	IEA
GO:0006936	Process	Muscle contraction	TAS	9697706
GO:0006998	Process	Nuclear envelope organization	IEA
GO:0006998	Process	Nuclear envelope organization	ISS
GO:0007010	Process	Cytoskeleton organization	TAS	9736733
GO:0008016	Process	Regulation of heart contraction	TAS	9697706
GO:0008092	Function	Cytoskeletal protein binding	IPI	11309420
GO:0014704	Component	Intercalated disc	IDA	24200904, 26724190
GO:0016020	Component	Membrane	IEA
GO:0030018	Component	Z disc	IBA
GO:0030018	Component	Z disc	IDA	9415431, 24200904, 26724190
GO:0030018	Component	Z disc	IEA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0042383	Component	Sarcolemma	IBA
GO:0042383	Component	Sarcolemma	IDA	25394388
GO:0042383	Component	Sarcolemma	IEA
GO:0042802	Function	Identical protein binding	IPI	21135508, 32296183
GO:0043292	Component	Contractile muscle fiber	IEA
GO:0045109	Process	Intermediate filament organization	IBA
GO:0045109	Process	Intermediate filament organization	IMP	24200904, 26724190
GO:0045111	Component	Intermediate filament cytoskeleton	IDA
GO:0045111	Component	Intermediate filament cytoskeleton	IEA
GO:0051286	Component	Cell tip	IEA
GO:0051286	Component	Cell tip	ISS
GO:0060538	Process	Skeletal muscle organ development	IBA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0097512	Component	Cardiac myofibril	IDA	25771144
GO:0099512	Component	Supramolecular fiber	IEA

MIM	HGNC	e!Ensembl
125660	2770	ENSG00000175084

P17661

Protein name

Desmin

Protein function

Muscle-specific type III intermediate filament essential for proper muscular structure and function. Plays a crucial role in maintaining the structure of sarcomeres, inter-connecting the Z-disks and forming the myofibrils, linking them not only

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04732	Filament_head	9 → 106	Intermediate filament head (DNA binding) region	Family
PF00038	Filament	107 → 415	Intermediate filament protein	Coiled-coil

Sequence

MSQAYSSSQRVSSYRRTFGGAPGFPLGSPLSSPVFPRAGFGSKGSSSSVTSRVYQVSRTS
GGAGGLGSLRASRLGTTRTPSSYGAGELLDFSLADAVNQEFLTTRTNEKVELQELNDRFA
NYIEKVRFLEQQNAALAAEVNRLKGREPTRVAELYEEELRELRRQVEVLTNQRARVDVER
DNLLDDLQRLKAKLQEEIQLKEEAENNLAAFRADVDAATLARIDLERRIESLNEEIAFLK
KVHEEEIRELQAQLQEQQVQVEMDMSKPDLTAALRDIRAQYETIAAKNISEAEEWYKSKV
SDLTQAANKNNDALRQAKQEMMEYRHQIQSYTCEIDALKGTNDSLMRQMRELEDRFASEA
SGYQDNIARLEEEIRHLKDEMARHLREYQDLLNVKMALDVEIATYRKLLEGEESRINLPI
QTYSALNFRETSPEQRGSEVHTKKTVMIKTIETRDGEVVSEATQQQHEVL

Sequence length

470

Interactions

View interactions

	KEGG		Reactome
	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Dilated cardiomyopathy		Striated Muscle Contraction

1753

Show/Hide Causal Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the musculature	Likely pathogenic; Pathogenic	rs398122940	RCV001814034
Arrhythmogenic right ventricular cardiomyopathy	Likely pathogenic; Pathogenic	rs121913003	RCV001787806
Bradycardia	Likely pathogenic	rs2125168811	RCV002259401
Cardiomyopathy	Likely pathogenic; Pathogenic	rs2125168194, rs121913003, rs1368507241	RCV001799278 RCV001798009 RCV001171068
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs2125168897, rs781590560, rs121913003, rs62635763, rs267607490, rs267607483, rs1954444202	RCV002343849 RCV004020211 RCV005540009 RCV005549906 RCV002381360 RCV002381361 RCV005328655
DES-related disorder	Likely pathogenic; Pathogenic	rs2125168194, rs1954374671, rs1399282762	RCV003407812 RCV003394435 RCV004742640
Desmin-related myofibrillar myopathy	Likely pathogenic; Pathogenic	rs2125165615, rs1370206753, rs2125166200, rs2125166454, rs769096434, rs1187516594, rs2125167652, rs2125168897, rs774739275, rs1224165687, rs2125167364, rs2125165857, rs1432061016, rs949187421, rs397516698 View all (65 more)	RCV001377481 RCV001388769 RCV001386331 RCV001388854 RCV001381376 RCV003992771 RCV002276892 RCV002541189 RCV002266017 RCV001960550 RCV001926904 RCV002037926 RCV001975552 RCV002283933 RCV002265627 RCV002265630 RCV003084860 RCV003080888 RCV001380936 RCV002781192 RCV002953882 RCV003015700 RCV003042121 RCV003042312 RCV003036660 RCV000227930 RCV000700283 RCV000696661 RCV005228039 RCV003792422 RCV003792546 RCV003808417 RCV003794535 RCV003802665 RCV003800262 RCV003809488 RCV003881698 RCV002265558 RCV002265560 RCV001044194 RCV000627795 RCV002265562 RCV002265563 RCV000811753 RCV000651542 RCV004018194 RCV004587620 RCV001380227 RCV000817811 RCV002265824 RCV002265825 RCV001389153 RCV001220792 RCV002265839 RCV000700903 RCV000697545 RCV002265873 RCV000797371 RCV000794311 RCV000792525 RCV002265587 RCV000796175 RCV001380949 RCV002274893 RCV001043598 RCV002265588 RCV001064294 RCV000685786 RCV001854166 RCV000684771 RCV001384253 RCV001061421 RCV000794180 RCV002265589 RCV000154574 RCV002265590 RCV004776428 RCV002265918 RCV001037267 RCV001038112 RCV001039536 RCV001382898 RCV001873578 RCV001218064 RCV001245293
Dilated cardiomyopathy 1I	Likely pathogenic; Pathogenic	rs1432061016, rs781590560, rs1553603566, rs1399282762, rs267607490, rs267607486	RCV005409859 RCV002478626 RCV004002755 RCV002477819 RCV004795992 RCV002226454
Dilated cardiomyopathy 1S	Pathogenic	rs1114167332	RCV000491577
Limb-girdle muscular dystrophy	Likely pathogenic	rs57955682	RCV005624695
Myofibrillar myopathy	Pathogenic; Likely pathogenic	rs58898021, rs267607485, rs60798368	RCV000239682 RCV000239724 RCV000239680
Neurogenic scapuloperoneal syndrome, Kaeser type	Likely pathogenic; Pathogenic	rs1432061016, rs781590560, rs57965306, rs1553603566, rs1399282762, rs267607490, rs267607499	RCV005409859 RCV002478626 RCV000018329 RCV004002755 RCV002477819 RCV004795992 RCV004767051
Neuromuscular disease	Likely pathogenic; Pathogenic	rs267607490, rs267607495	RCV000844627 RCV000154600
Primary dilated cardiomyopathy	Pathogenic; Likely pathogenic	rs62636495, rs267607490, rs267607495, rs267607483	RCV000037240 RCV000498999 RCV000154600 RCV000154574
Primary familial dilated cardiomyopathy	Likely pathogenic; Pathogenic	rs58999456	RCV004799771
Primary familial hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs267607490	RCV000155027
Progressive familial heart block	Likely pathogenic	rs2125168811	RCV002259401

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Arrhythmogenic right ventricular dysplasia 9	Uncertain significance	rs1114167347	RCV000491627
Congenital diaphragmatic hernia	Conflicting classifications of pathogenicity	rs41272699	RCV000203295
Dilated cardiomyopathy 1A	Uncertain significance	rs375218723	RCV001256941
Dilated Cardiomyopathy, Dominant	Uncertain significance; Benign; Likely benign	rs746886224, rs11685408, rs397516699	RCV000356739 RCV000300241 RCV000352919
Hypertrophic cardiomyopathy	Uncertain significance	rs746814065	RCV003447565
Left ventricular noncompaction cardiomyopathy	Conflicting classifications of pathogenicity	rs144261171	RCV000157163
Lung cancer	Likely benign	rs200657337	RCV005896521
Myofibrillar Myopathy, Dominant	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs367961979, rs144261171, rs184826121, rs578191306, rs774967446, rs886055654, rs746886224, rs886055653, rs560055588, rs73085265, rs547498920, rs116635264, rs886055655, rs11685408, rs75882680 View all (14 more)	RCV000379116 RCV000406154 RCV000275289 RCV000383286 RCV000327635 RCV000274488 RCV000352997 RCV000354916 RCV000369044 RCV000285808 RCV000311255 RCV000322638 RCV000346727 RCV000357448 RCV000265756 RCV000395883 RCV000277612 RCV000388336 RCV000348859 RCV000305879 RCV000271115 RCV000340575 RCV000376849 RCV000380447 RCV000336446 RCV000263666 RCV000345483 RCV000338231 RCV000298076
Sarcoma	Benign	rs144177848	RCV005917092
Scapuloperoneal weakness	Uncertain significance; Benign; Likely benign	rs746886224, rs11685408, rs397516699	RCV000316883 RCV000260303 RCV000304469
See cases	Conflicting classifications of pathogenicity	rs144261171	RCV001264391

Show/Hide Text Mining Associations (133)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adie Syndrome	Associate	24889065
Alpha B Crystallinopathy	Associate	17418574
Aortic Aneurysm Familial Abdominal 1	Associate	31703088
Arrhythmias Cardiac	Associate	27121971, 31609036, 34289528, 36555543, 38522388, 40604581
Arrhythmogenic Right Ventricular Dysplasia	Associate	16698823, 22395865, 23168288, 29212896, 31702781, 32397162, 33831308
Arrhythmogenic Right Ventricular Dysplasia Familial 7	Associate	22395865
Atresia of small intestine	Associate	22791945
Atrial Fibrillation	Associate	34289528
Atrioventricular Block	Associate	16376610, 29274115
Basal Cell Nevus Syndrome	Associate	35740900
Bundle Branch Block	Associate	37931536
Carcinoma	Associate	24133607
Cardiac Conduction System Disease	Associate	22153487, 31609036, 32142595, 38522388
Cardiac Lipidosis Familial	Associate	8004844
Cardio Renal Syndrome	Associate	31024060
Cardiomyopathies	Associate	10717012, 18691923, 19433360, 21083940, 21842594, 22292457, 25541946, 28470624, 28523323, 29274115, 36555543, 37446359, 37931536, 38167524, 38522388, 40604581, 8004844 View all (2 more)
Cardiomyopathy Dilated	Associate	10974018, 21842594, 22292457, 23168288, 23815709, 26458567, 29556622, 34011823, 34289528, 36555543
Cardiomyopathy Hypertrophic	Associate	21083940, 28427417, 32150461
Cardiomyopathy Restrictive	Associate	16376610, 21842594, 28523323, 31718026, 35456383, 35614389, 40604581, 8004844
Cardiovascular Abnormalities	Associate	22153487
Cardiovascular Diseases	Associate	22153487, 36221331
Colorectal Neoplasms	Associate	16959042, 18691435
Colorectal Neoplasms	Stimulate	19460759
Conduct Disorder	Associate	29212896
Conversion Disorder	Associate	25575565
Coronary Artery Dissection Spontaneous	Associate	32142595
Death	Associate	36221331
Death Sudden	Associate	31609036
Death Sudden Cardiac	Associate	24441330, 29212896, 32397162
Desmoplastic Small Round Cell Tumor	Stimulate	23994981
Desmoplastic Small Round Cell Tumor	Associate	38158126
Diaphyseal medullary stenosis with malignant fibrous histiocytoma	Associate	12401825
Disease	Associate	34289528
Distal Myopathies	Associate	11454237, 21842594, 24441330
Drug Resistant Epilepsy	Associate	27903967
Dysphonia	Associate	25208129
Dystonic Disorders	Associate	10717012
Endometrial Neoplasms	Associate	35805203
Endometriosis	Associate	38115253
Epidermolysa bullosa simplex and limb girdle muscular dystrophy	Associate	27121971
familial dilated cardiomyopathy	Associate	33823640
Fasciculation	Associate	22153487, 3360147
Fetal Growth Retardation	Inhibit	28157488
Fibrosis	Associate	21083940, 22292457, 7869483
Gallbladder Neoplasms	Inhibit	32461394
Gamma A Globulin Defect in Assembly of	Associate	31718026
Gastrointestinal Stromal Tumors	Associate	20380900, 22798108
Genetic Diseases Inborn	Associate	32397162
Giant Axonal Neuropathy	Associate	25398950
Glomus Tumor	Associate	9362106
Granular Cell Tumor	Associate	37474473
Heart Block	Associate	23815709, 34289528
Heart Diseases	Associate	10717012, 11073539, 16376610, 21083940, 22153487, 23051780, 24441330, 29212896, 29274115, 31024060, 32105824, 37931536, 40523712
Heart Failure	Associate	22292457, 36555543, 37834000, 38167524
HELLP Syndrome	Associate	23640432
Hereditary Myopathy with Early Respiratory Failure	Associate	17418574
Hernias Diaphragmatic Congenital	Associate	25736269
Histiocytoma Angiomatoid Fibrous	Associate	28009602
Histiocytoma Benign Fibrous	Associate	12296754
Histiocytoma Malignant Fibrous	Associate	12401825, 12944549
Holt Oram syndrome	Associate	36555543
Hyperplasia	Associate	35805203
Hypertension	Associate	23640432
Hypertension Pulmonary	Inhibit	22452949
Hypertrophy	Associate	22292457
Hypoxia	Stimulate	20877435
Hypoxia	Inhibit	29348564
Infarction	Associate	22646277
Isolated Noncompaction of the Ventricular Myocardium	Associate	32142595, 33478057
Laryngeal Neoplasms	Associate	36701711
Leiomyoma	Associate	17278201, 8723906
Leiomyosarcoma	Associate	12944549, 17278201, 8723906
Lung Neoplasms	Associate	3020094
Lymphangioleiomyomatosis	Associate	21128782
Lymphoma Follicular	Associate	19530241
Malignant Teratocarcinosarcoma	Associate	27137987, 37378830
Melanoma	Associate	33078756
Mitochondrial Diseases	Associate	25575565, 27121971, 32105824, 38167524
Mitral Valve Prolapse	Associate	27213335
Muscle Weakness	Associate	23815709, 24441330, 28523323, 31609036, 32576226, 38522388
Muscular Atrophy	Associate	24441330
Muscular Diseases	Associate	10717012, 15004226, 15978589, 19282282, 25541946, 25575565, 27121971, 28470624, 29274115, 31024060, 32105824, 36555543, 8004844, 9736733
Muscular Disorders Atrophic	Associate	25541946
Muscular Dystrophies	Associate	16010068, 23155419
Muscular Dystrophies Limb Girdle	Associate	23155419, 32576226, 37721175
Muscular Dystrophy Duchenne	Associate	12619170
Muscular Dystrophy Limb Girdle Type 1E	Associate	32576226
Myasthenic Syndromes Congenital	Associate	37721175
Myocardial Infarction	Associate	36221331
Myofibrillar Myopathy	Associate	10717012, 11073539, 16010068, 17418574, 17784878, 19433360, 21676617, 22106715, 22153487, 22395865, 23051780, 23639843, 23815709, 25208129, 25541946 View all (16 more)
Myopathies Structural Congenital	Associate	7608737
Myopathy Central Core	Associate	7608737
Myositis Inclusion Body	Associate	15146016
Myotilinopathy	Associate	17784878
Myotonia Congenita	Associate	7608737
Neoplasms	Associate	11473460, 12296765, 15670309, 16681729, 16998931, 17425400, 17964965, 18691435, 22433657, 22949933, 23479771, 24427371, 2456700, 24889065, 25755773 View all (29 more)
Neuroacanthocytosis	Inhibit	26316086
Neuroblastoma	Associate	29426276
Neuromuscular Junction Diseases	Associate	37721175
Odontogenic Cysts	Associate	35740900
Oncocytoma renal	Associate	20412129
Osteosarcoma	Associate	12401825
Peripheral Arterial Disease	Associate	25575565
Perivascular Epithelioid Cell Neoplasms	Associate	26722497, 29318761
Peroneal Neuropathies	Associate	24441330
Placenta Diseases	Associate	23640432
Plaque Atherosclerotic	Associate	2190471
Prostatic Hyperplasia	Associate	37781794
Prostatic Neoplasms	Associate	37781794
Pulmonary Embolism	Inhibit	22452949
Respiratory Insufficiency	Associate	40523712
Rhabdoid Tumor	Associate	37890269
Rhabdomyosarcoma	Associate	20219075, 3311112, 7524332, 7665696, 8160781
Rhabdomyosarcoma Alveolar	Associate	18487991
Rhabdomyosarcoma Embryonal	Associate	20701800
Rheumatic Heart Disease	Associate	24738046
Sarcoma	Associate	3311112
Short QT Syndrome 1	Associate	28427417
Sick Sinus Syndrome	Associate	33580673
Smith McCort Dysplasia	Associate	20020816
Soft Tissue Neoplasms	Associate	33300192
Solitary Fibrous Tumors	Associate	29482421, 34502329
Status Asthmaticus	Associate	16449267
Stomach Neoplasms	Associate	12923326
Talipes Cavus	Associate	8004844
Urinary Bladder Diseases	Associate	21251216
Usher syndrome type 1E	Associate	32576226
Uterine Cervical Neoplasms	Associate	34323415, 36614304
Vacuolar myopathy	Associate	25557463, 32419263
Vaginal Diseases	Associate	28747229
Vascular Remodeling	Associate	21842594
Ventricular Remodeling	Associate	23168288
Visceral Myopathy Familial	Associate	3360147

DES (desmin)