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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for DMPK

check button Gene summary
Gene informationGene symbol

DMPK

Gene ID

1760

Gene nameDM1 protein kinase
SynonymsDM|DM1|DM1PK|DMK|MDPK|MT-PK
Cytomap

19q13.32

Type of geneprotein-coding
Descriptionmyotonin-protein kinaseDM protein kinasedystrophia myotonica protein kinasemyotonic dystrophy associated protein kinasemyotonin protein kinase Athymopoietin homolog
Modification date20180523
UniProtAcc

Q09013

ContextPubMed: DMPK [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
DMPK

GO:0006468

protein phosphorylation

10913253|11287000

DMPK

GO:0008016

regulation of heart contraction

15598648

DMPK

GO:0010657

muscle cell apoptotic process

18729234


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Exon skipping events across known transcript of Ensembl for DMPK from UCSC genome browser

check buttonSkipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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Gene isoform structures and expression levels for DMPK

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for DMPK

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3196871946273767:46273898:46274228:46274314:46274607:4627465446274228:46274314ENSG00000104936.13ENST00000458663.2,ENST00000600757.1,ENST00000596686.1
exon_skip_3196891946273767:46273898:46274228:46274318:46274607:4627465446274228:46274318ENSG00000104936.13ENST00000588522.1,ENST00000291270.4,ENST00000447742.2,ENST00000343373.4
exon_skip_3196931946274228:46274314:46274607:46274654:46274825:4627492346274607:46274654ENSG00000104936.13ENST00000458663.2,ENST00000600757.1,ENST00000596686.1
exon_skip_3196941946274228:46274318:46274607:46274654:46274825:4627492346274607:46274654ENSG00000104936.13ENST00000588522.1,ENST00000291270.4,ENST00000447742.2,ENST00000343373.4
exon_skip_3196971946274825:46274923:46275028:46275186:46275898:4627597046275028:46275186ENSG00000104936.13ENST00000588522.1,ENST00000597660.1,ENST00000354227.5,ENST00000458663.2,ENST00000291270.4,ENST00000600370.1,ENST00000600757.1,ENST00000447742.2,ENST00000596686.1,ENST00000343373.4
exon_skip_3197061946278206:46278292:46280584:46280848:46280924:4628098146280584:46280848ENSG00000104936.13ENST00000588522.1,ENST00000291270.4,ENST00000596686.1,ENST00000343373.4
exon_skip_3197071946278206:46278292:46280599:46280848:46280924:4628098146280599:46280848ENSG00000104936.13ENST00000354227.5,ENST00000458663.2,ENST00000600757.1,ENST00000447742.2
exon_skip_3197101946280823:46280848:46280924:46281131:46281384:4628147846280924:46281131ENSG00000104936.13ENST00000588522.1,ENST00000354227.5,ENST00000458663.2,ENST00000291270.4,ENST00000600757.1,ENST00000447742.2,ENST00000596686.1,ENST00000343373.4
exon_skip_3197111946281384:46281478:46281750:46281899:46282391:4628242646281750:46281899ENSG00000104936.13ENST00000596920.1

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for DMPK

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3196871946273767:46273898:46274228:46274314:46274607:4627465446274228:46274314ENSG00000104936.13ENST00000596686.1,ENST00000600757.1,ENST00000458663.2
exon_skip_3196891946273767:46273898:46274228:46274318:46274607:4627465446274228:46274318ENSG00000104936.13ENST00000291270.4,ENST00000588522.1,ENST00000343373.4,ENST00000447742.2
exon_skip_3196931946274228:46274314:46274607:46274654:46274825:4627492346274607:46274654ENSG00000104936.13ENST00000596686.1,ENST00000600757.1,ENST00000458663.2
exon_skip_3196941946274228:46274318:46274607:46274654:46274825:4627492346274607:46274654ENSG00000104936.13ENST00000291270.4,ENST00000588522.1,ENST00000343373.4,ENST00000447742.2
exon_skip_3196971946274825:46274923:46275028:46275186:46275898:4627597046275028:46275186ENSG00000104936.13ENST00000291270.4,ENST00000588522.1,ENST00000596686.1,ENST00000600757.1,ENST00000343373.4,ENST00000447742.2,ENST00000458663.2,ENST00000354227.5,ENST00000597660.1,ENST00000600370.1
exon_skip_3197061946278206:46278292:46280584:46280848:46280924:4628098146280584:46280848ENSG00000104936.13ENST00000291270.4,ENST00000588522.1,ENST00000596686.1,ENST00000343373.4
exon_skip_3197071946278206:46278292:46280599:46280848:46280924:4628098146280599:46280848ENSG00000104936.13ENST00000600757.1,ENST00000447742.2,ENST00000458663.2,ENST00000354227.5
exon_skip_3197101946280823:46280848:46280924:46281131:46281384:4628147846280924:46281131ENSG00000104936.13ENST00000291270.4,ENST00000588522.1,ENST00000596686.1,ENST00000600757.1,ENST00000343373.4,ENST00000447742.2,ENST00000458663.2,ENST00000354227.5
exon_skip_3197111946281384:46281478:46281750:46281899:46282391:4628242646281750:46281899ENSG00000104936.13ENST00000596920.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for DMPK

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003433734627460746274654Frame-shift
ENST000003433734627502846275186Frame-shift
ENST000003433734627422846274318In-frame
ENST000003433734628058446280848In-frame
ENST000003433734628092446281131In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003433734627460746274654Frame-shift
ENST000003433734627502846275186Frame-shift
ENST000003433734627422846274318In-frame
ENST000003433734628058446280848In-frame
ENST000003433734628092446281131In-frame

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Infer the effects of exon skipping event on protein functional features for DMPK

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003433733244629462809244628113112501456235304
ENST000003433733244629462805844628084814571720304392
ENST000003433733244629462742284627431822222311559589

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003433733244629462809244628113112501456235304
ENST000003433733244629462805844628084814571720304392
ENST000003433733244629462742284627431822222311559589

check button Lost protein functional features of individual exon skipping events in TCGA.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
Q09013235304226275Alternative sequenceID=VSP_042100;Note=In isoform 9. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q09013235304253255Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VD5
Q090132353041629ChainID=PRO_0000085924;Note=Myotonin-protein kinase
Q0901323530471339DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
Q09013235304235237HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VD5
Q09013235304240247HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VD5
Q09013235304258273HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VD5
Q09013235304283291HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VD5
Q09013235304293296HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VD5
Q090132353041590Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q09013304392378382Alternative sequenceID=VSP_042101;Note=In isoform 2%2C isoform 4%2C isoform 6 and isoform 10. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:1310900,ECO:0000303|PubMed:7905855,ECO:0000303|PubMed:8076686;Dbxref=PMID:1310900,PMID:7905855,
Q09013304392378382Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VD5
Q090133043921629ChainID=PRO_0000085924;Note=Myotonin-protein kinase
Q0901330439271339DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
Q09013304392340415DomainNote=AGC-kinase C-terminal
Q09013304392308315HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VD5
Q09013304392321323HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VD5
Q09013304392330334HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VD5
Q09013304392337339HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VD5
Q090133043921590Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q09013304392325329TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VD5
Q09013304392385387TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VD5
Q09013559589536629Alternative sequenceID=VSP_042103;Note=In isoform 5%2C isoform 6 and isoform 12. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q09013559589550629Alternative sequenceID=VSP_042104;Note=In isoform 3 and isoform 4. LDGPPAVAVGQCPLVGPGPMHRRHLLLPARVPRPGLSEALSLLLFAVVLSRAAALGCIGLVAHAGQLTAVWRRPGAARAP->MAPRPWLWASARWWGQAPCTAATCCSLPGSLGLAYRRRFPCSCSPLFCLVPPPWAALGWWPTPANSPQSGAAQEPPALPEP;Ontology_term=ECO:0000303;evidence=ECO:00003
Q09013559589550579Alternative sequenceID=VSP_042105;Note=In isoform 11. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q090135595891629ChainID=PRO_0000085924;Note=Myotonin-protein kinase
Q090135595891590Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255


check button Lost protein functional features of individual exon skipping events in GTEx.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
Q09013235304226275Alternative sequenceID=VSP_042100;Note=In isoform 9. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q09013235304253255Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VD5
Q090132353041629ChainID=PRO_0000085924;Note=Myotonin-protein kinase
Q0901323530471339DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
Q09013235304235237HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VD5
Q09013235304240247HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VD5
Q09013235304258273HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VD5
Q09013235304283291HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VD5
Q09013235304293296HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VD5
Q090132353041590Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q09013304392378382Alternative sequenceID=VSP_042101;Note=In isoform 2%2C isoform 4%2C isoform 6 and isoform 10. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:1310900,ECO:0000303|PubMed:7905855,ECO:0000303|PubMed:8076686;Dbxref=PMID:1310900,PMID:7905855,
Q09013304392378382Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VD5
Q090133043921629ChainID=PRO_0000085924;Note=Myotonin-protein kinase
Q0901330439271339DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
Q09013304392340415DomainNote=AGC-kinase C-terminal
Q09013304392308315HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VD5
Q09013304392321323HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VD5
Q09013304392330334HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VD5
Q09013304392337339HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VD5
Q090133043921590Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q09013304392325329TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VD5
Q09013304392385387TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VD5
Q09013559589536629Alternative sequenceID=VSP_042103;Note=In isoform 5%2C isoform 6 and isoform 12. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q09013559589550629Alternative sequenceID=VSP_042104;Note=In isoform 3 and isoform 4. LDGPPAVAVGQCPLVGPGPMHRRHLLLPARVPRPGLSEALSLLLFAVVLSRAAALGCIGLVAHAGQLTAVWRRPGAARAP->MAPRPWLWASARWWGQAPCTAATCCSLPGSLGLAYRRRFPCSCSPLFCLVPPPWAALGWWPTPANSPQSGAAQEPPALPEP;Ontology_term=ECO:0000303;evidence=ECO:00003
Q09013559589550579Alternative sequenceID=VSP_042105;Note=In isoform 11. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q090135595891629ChainID=PRO_0000085924;Note=Myotonin-protein kinase
Q090135595891590Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255


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SNVs in the skipped exons for DMPK

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.
DMPK_STAD_exon_skip_319706_psi_boxplot.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A3A0-01exon_skip_319694
exon_skip_319693
46274608462746544627462246274622Frame_Shift_DelC-p.D550fs
STADTCGA-HU-A4GT-01exon_skip_319694
exon_skip_319693
46274608462746544627462246274628Frame_Shift_DelCCGTGGC-p.553_555del
STADTCGA-HU-A4GT-01exon_skip_319694
exon_skip_319693
46274608462746544627462246274628Frame_Shift_DelCCGTGGC-p.A569fs
LIHCTCGA-DD-A39Y-01exon_skip_319694
exon_skip_319693
46274608462746544627463146274631Frame_Shift_DelG-p.R547fs
LIHCTCGA-DD-A39Y-01exon_skip_319706
exon_skip_319707
46280585462808484628067246280672Frame_Shift_DelG-p.P363fs
LIHCTCGA-DD-A39Y-0146280600462808484628067246280672Frame_Shift_DelG-p.P363fs
STADTCGA-BR-7851-01exon_skip_319706
exon_skip_319707
46280585462808484628083546280836Frame_Shift_DelAG-p.L325fs
STADTCGA-BR-7851-0146280600462808484628083546280836Frame_Shift_DelAG-p.L325fs
KIRCTCGA-B0-5075-01exon_skip_319711
46281751462818994628179346281794Frame_Shift_Ins-CAATCAATp.H190fs

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
DMPK_46278206_46278292_46280584_46280848_46280924_46280981_TCGA-BR-7851-01Sample: TCGA-BR-7851-01
Cancer type: STAD
ESID: exon_skip_319707
Skipped exon start: 46280585
Skipped exon end: 46280848
Mutation start: 46280835
Mutation end: 46280836
Mutation type: Frame_Shift_Del
Reference seq: AG
Mutation seq: -
AAchange: p.L325fs
DMPK_46278206_46278292_46280584_46280848_46280924_46280981_TCGA-BR-7851-01Sample: TCGA-BR-7851-01
Cancer type: STAD
ESID:
Skipped exon start: 46280600
Skipped exon end: 46280848
Mutation start: 46280835
Mutation end: 46280836
Mutation type: Frame_Shift_Del
Reference seq: AG
Mutation seq: -
AAchange: p.L325fs
exon_skip_290191_STAD_TCGA-BR-7851-01.png
boxplot
exon_skip_308974_STAD_TCGA-BR-7851-01.png
boxplot
exon_skip_313700_STAD_TCGA-BR-7851-01.png
boxplot
exon_skip_319706_STAD_TCGA-BR-7851-01.png
boxplot
exon_skip_385593_STAD_TCGA-BR-7851-01.png
boxplot
exon_skip_441654_STAD_TCGA-BR-7851-01.png
boxplot
exon_skip_507416_STAD_TCGA-BR-7851-01.png
boxplot
exon_skip_7378_STAD_TCGA-BR-7851-01.png
boxplot
exon_skip_96939_STAD_TCGA-BR-7851-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
HEC6_ENDOMETRIUM46280585462808484628083546280836Frame_Shift_DelAG-p.L299fs
HEC6_ENDOMETRIUM46280600462808484628083546280836Frame_Shift_DelAG-p.L299fs
HEC1A_ENDOMETRIUM46274229462743144627430446274305Frame_Shift_Ins-Gp.P554fs
HEC1A_ENDOMETRIUM46274229462743184627430446274305Frame_Shift_Ins-Gp.P554fs
SNU175_LARGE_INTESTINE46275029462751864627513146275131Missense_MutationGAp.T467M
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE46280585462808484628058946280589Missense_MutationCAp.G381V
MFE319_ENDOMETRIUM46280585462808484628068246280682Missense_MutationCTp.S350N
MFE319_ENDOMETRIUM46280600462808484628068246280682Missense_MutationCTp.S350N
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE46280585462808484628068646280686Missense_MutationCTp.D349N
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE46280600462808484628068646280686Missense_MutationCTp.D349N
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE46280585462808484628070446280704Missense_MutationCTp.D343N
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE46280600462808484628070446280704Missense_MutationCTp.D343N
SNU1040_LARGE_INTESTINE46280585462808484628074246280742Missense_MutationGAp.A330V
SNU1040_LARGE_INTESTINE46280600462808484628074246280742Missense_MutationGAp.A330V
NCIH1155_LUNG46280585462808484628076946280769Missense_MutationGAp.P321L
NCIH1155_LUNG46280600462808484628076946280769Missense_MutationGAp.P321L
HEC1B_ENDOMETRIUM46280585462808484628081146280811Missense_MutationGTp.P307H
HEC1B_ENDOMETRIUM46280600462808484628081146280811Missense_MutationGTp.P307H
MHHCALL3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE46280585462808484628082146280821Missense_MutationCTp.E304K
MHHCALL3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE46280600462808484628082146280821Missense_MutationCTp.E304K
NB7_AUTONOMIC_GANGLIA46280925462811314628098446280984Missense_MutationGTp.Q275K
SNU1040_LARGE_INTESTINE46280925462811314628099646280996Missense_MutationTCp.M271V
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE46280925462811314628099946280999Missense_MutationCTp.E270K
SUPT11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE46280925462811314628100546281005Missense_MutationCTp.A268T
WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE46280925462811314628103546281035Missense_MutationCTp.E258K
HEC108_ENDOMETRIUM46280925462811314628104646281046Missense_MutationCTp.S254N
RMGI_OVARY46281751462818994628179346281793Missense_MutationACp.V180G
NCIH1563_LUNG46281751462818994628179746281797Missense_MutationTCp.I179V
C33A_CERVIX46281751462818994628181546281815Missense_MutationGAp.R173C
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE46281751462818994628181546281815Missense_MutationGAp.R173C
NCIH748_LUNG46281751462818994628181546281815Missense_MutationGAp.R173C
HT144_SKIN46281751462818994628188346281883Missense_MutationTCp.Y150C

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DMPK

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DMPK


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DMPK


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RelatedDrugs for DMPK

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for DMPK

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
DMPKC0027125Myotonia1CTD_human;HPO
DMPKC0027126Myotonic Dystrophy1CTD_human