DOID:423

Name:	myopathy
Namespace:	FANTOM
Definition:	"A muscular disease in which the muscle fibers do not function resulting in muscular weakness." [url:http://en.wikipedia.org/wiki/Myopathy]
Xrefs:	Expandlinks: ICD9CM:359.9 MSH:D009135 SNOMEDCT_2010_1_31:129565002 SNOMEDCT_2010_1_31:155094005 SNOMEDCT_2010_1_31:155099000 SNOMEDCT_2010_1_31:203833006 SNOMEDCT_2010_1_31:203845002 SNOMEDCT_2010_1_31:267711006 SNOMEDCT_2010_1_31:267714003 SNOMEDCT_2010_1_31:268103006 SNOMEDCT_2010_1_31:52794005 SNOMEDCT_2010_1_31:75047002 UMLS_CUI:C0026848

Ontology association<br>Each term has an is_a parent in the Disease Ontology, which has a linkage to an another entity and FANTOM5 samples.Libraries were grouped into mutually exclusive facets according to the FANTOM5 sample ontology mapping to DISEASE ontologies.<br><br>link to ontology dataset<br>data

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Parents

is_a:	DOID:66(muscle tissue disease)

Children

is a:	DOID:450 (myotonic disease)

Ontology Tree: Loaded from BioPortal

Ontorolgy tree(Small window open)

FF samples

Human (Homo sapiens)

• 11556-120C8 (Fibroblast - skin dystrophia myotonica, donor1)
• 11557-120C9 (Fibroblast - skin dystrophia myotonica, donor2)
• 11560-120D3 (Fibroblast - skin dystrophia myotonica, donor3)
• 14306-155C4
• 14307-155C5
• 14308-155C6 (Fibroblast - skin dystrophia myotonica, donor3 (nuclear fraction))
• 14327-155E7
• 14328-155E8
• 14329-155E9 (Fibroblast - skin dystrophia myotonica, donor1 (nuclear fraction))

Mouse (Mus musculus)

• 11556-120C8 (Fibroblast - skin dystrophia myotonica, donor1)
• 11557-120C9 (Fibroblast - skin dystrophia myotonica, donor2)
• 11560-120D3 (Fibroblast - skin dystrophia myotonica, donor3)
• 14306-155C4
• 14307-155C5
• 14308-155C6 (Fibroblast - skin dystrophia myotonica, donor3 (nuclear fraction))
• 14327-155E7
• 14328-155E8
• 14329-155E9 (Fibroblast - skin dystrophia myotonica, donor1 (nuclear fraction))

Enrichment analysis: top 100 FFCP enriched with this ontology termTOP 100 FANTOM5 Cage Peaks enriched with DOID:423 (myopathy), sorted by p-values <br>Analyst: Hideya Kawaji<br><br>link to source dataset <br>human : data <br>mouse : data

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P-value	FFCP	Short description

P-value	FFCP	Short description
1.5e-156	FFCP PHASE1:Hg19::chr15:33180439..33180446,-	p@chr15:33180439..33180446, -
1.5e-156	FFCP PHASE2:Hg19::chr15:33180439..33180446,-	p@chr15:33180439..33180446, -
6.23e-66	FFCP PHASE2:Hg19::chr13:24044226..24044237,+	p1@LINC00327
6.23e-66	FFCP PHASE1:Hg19::chr13:24044226..24044237,+	p1@LINC00327
3.99e-52	FFCP PHASE1:Hg19::chr4:184271970..184271992,-	p@chr4:184271970..184271992, -
3.99e-52	FFCP PHASE2:Hg19::chr4:184271970..184271992,-	p@chr4:184271970..184271992, -
3.24e-51	FFCP PHASE1:Hg19::chr15:33180622..33180633,-	p13@FMN1
3.24e-51	FFCP PHASE2:Hg19::chr15:33180622..33180633,-	p13@FMN1
8.65e-49	FFCP PHASE2:Hg19::chr1:198636401..198636419,-	p3@ENST00000413577
8.65e-49	FFCP PHASE1:Hg19::chr1:198636401..198636419,-	p3@ENST00000413577
8.65e-49	FFCP PHASE1:Hg19::chr13:24044200..24044211,+	p2@LINC00327
8.65e-49	FFCP PHASE2:Hg19::chr13:24044200..24044211,+	p2@LINC00327
8.92e-46	FFCP PHASE2:Hg19::chr1:197886646..197886657,+	p5@LHX9
8.92e-46	FFCP PHASE1:Hg19::chr1:197886646..197886657,+	p5@LHX9
3.84e-42	FFCP PHASE2:Hg19::chr22:48819856..48819861,+	p@chr22:48819856..48819861, +
3.84e-42	FFCP PHASE1:Hg19::chr22:48819856..48819861,+	p@chr22:48819856..48819861, +
1.48e-40	FFCP PHASE1:Hg19::chr1:55505693..55505698,+	p7@PCSK9
1.48e-40	FFCP PHASE2:Hg19::chr1:55505693..55505698,+	p7@PCSK9
2.71e-40	FFCP PHASE1:Hg19::chr2:100323985..100323997,-	p@chr2:100323985..100323997, -
2.71e-40	FFCP PHASE2:Hg19::chr2:100323985..100323997,-	p@chr2:100323985..100323997, -
5.85e-40	FFCP PHASE1:Hg19::chr15:39571769..39571781,-	p@chr15:39571769..39571781, -
5.85e-40	FFCP PHASE2:Hg19::chr15:39571769..39571781,-	p@chr15:39571769..39571781, -
2.05e-39	FFCP PHASE2:Hg19::chr15:33180498..33180522,-	p4@FMN1
2.05e-39	FFCP PHASE1:Hg19::chr15:33180498..33180522,-	p4@FMN1
7.88e-38	FFCP PHASE2:Hg19::chrX:3102846..3102872,+	p@chrX:3102846..3102872, +
7.88e-38	FFCP PHASE1:Hg19::chrX:3102846..3102872,+	p@chrX:3102846..3102872, +
8.51e-37	FFCP PHASE2:Hg19::chr1:198636258..198636278,-	p1@ENST00000413577
8.51e-37	FFCP PHASE1:Hg19::chr1:198636258..198636278,-	p1@ENST00000413577
2.0e-36	FFCP PHASE1:Hg19::chr2:100323966..100323983,-	p@chr2:100323966..100323983, -
2.0e-36	FFCP PHASE2:Hg19::chr2:100323966..100323983,-	p@chr2:100323966..100323983, -
1.82e-34	FFCP PHASE2:Hg19::chr1:197886421..197886432,+	p2@LHX9
1.82e-34	FFCP PHASE1:Hg19::chr1:197886421..197886432,+	p2@LHX9
3.86e-33	FFCP PHASE2:Hg19::chr1:197889151..197889159,+	p@chr1:197889151..197889159, +
3.86e-33	FFCP PHASE1:Hg19::chr1:197889151..197889159,+	p@chr1:197889151..197889159, +
4.23e-33	FFCP PHASE1:Hg19::chr5:167181769..167181798,+	p17@ODZ2
4.23e-33	FFCP PHASE2:Hg19::chr5:167181769..167181798,+	p17@ODZ2
4.31e-33	FFCP PHASE2:Hg19::chr1:197886772..197886790,+	p4@LHX9
4.31e-33	FFCP PHASE1:Hg19::chr1:197886772..197886790,+	p4@LHX9
6.67e-33	FFCP PHASE2:Hg19::chr1:197886617..197886628,+	p8@LHX9
6.67e-33	FFCP PHASE1:Hg19::chr1:197886617..197886628,+	p8@LHX9
9.31e-33	FFCP PHASE1:Hg19::chr14:32963433..32963487,+	p4@AKAP6
9.31e-33	FFCP PHASE2:Hg19::chr14:32963433..32963487,+	p4@AKAP6
9.4e-33	FFCP PHASE1:Hg19::chr8:23564380..23564391,+	p1@ENST00000523874
9.4e-33	FFCP PHASE2:Hg19::chr8:23564380..23564391,+	p1@ENST00000523874
1.7e-32	FFCP PHASE1:Hg19::chr20:52570906..52570909,-	p@chr20:52570906..52570909, -
1.7e-32	FFCP PHASE2:Hg19::chr20:52570906..52570909,-	p@chr20:52570906..52570909, -
1.23e-30	FFCP PHASE2:Hg19::chr1:197886665..197886732,+	p3@LHX9
1.23e-30	FFCP PHASE1:Hg19::chr1:197886665..197886732,+	p3@LHX9
1.42e-30	FFCP PHASE2:Hg19::chr15:33180558..33180570,-	p9@FMN1
1.42e-30	FFCP PHASE1:Hg19::chr15:33180558..33180570,-	p9@FMN1
6.36e-30	FFCP PHASE1:Hg19::chr2:239778648..239778664,+	p@chr2:239778648..239778664, +
6.36e-30	FFCP PHASE2:Hg19::chr2:239778648..239778664,+	p@chr2:239778648..239778664, +
7.23e-30	FFCP PHASE1:Hg19::chr15:39880996..39881011,+	p41@THBS1
7.23e-30	FFCP PHASE2:Hg19::chr15:39880996..39881011,+	p41@THBS1
3.13e-29	FFCP PHASE2:Hg19::chr2:158114405..158114413,+	p11@GALNT5
3.13e-29	FFCP PHASE1:Hg19::chr2:158114405..158114413,+	p11@GALNT5
6.34e-29	FFCP PHASE1:Hg19::chr12:114845970..114846000,+	p1@LOC255480
6.34e-29	FFCP PHASE2:Hg19::chr12:114845970..114846000,+	p1@LOC255480
2.45e-28	FFCP PHASE2:Hg19::chr6:113697548..113697566,-	p@chr6:113697548..113697566, -
2.45e-28	FFCP PHASE1:Hg19::chr6:113697548..113697566,-	p@chr6:113697548..113697566, -
6.02e-28	FFCP PHASE2:Hg19::chr15:39593792..39593816,-	p@chr15:39593792..39593816, -
6.02e-28	FFCP PHASE1:Hg19::chr15:39593792..39593816,-	p@chr15:39593792..39593816, -
2.04e-27	FFCP PHASE2:Hg19::chr12:10084960..10084974,-	p1@CLEC2A
2.04e-27	FFCP PHASE1:Hg19::chr12:10084960..10084974,-	p1@CLEC2A
2.08e-27	FFCP PHASE1:Hg19::chr7:131195751..131195762,+	p@chr7:131195751..131195762, +
2.08e-27	FFCP PHASE2:Hg19::chr7:131195751..131195762,+	p@chr7:131195751..131195762, +
2.72e-27	FFCP PHASE1:Hg19::chr10:129815627..129815630,+	p@chr10:129815627..129815630, +
2.72e-27	FFCP PHASE2:Hg19::chr10:129815627..129815630,+	p@chr10:129815627..129815630, +
3.55e-27	FFCP PHASE1:Hg19::chr12:91539677..91539688,-	p@chr12:91539677..91539688, -
3.55e-27	FFCP PHASE2:Hg19::chr12:91539677..91539688,-	p@chr12:91539677..91539688, -
6.88e-27	FFCP PHASE1:Hg19::chr8:23564065..23564087,-	p1@NKX2-6
6.88e-27	FFCP PHASE2:Hg19::chr8:23564065..23564087,-	p1@NKX2-6
1.64e-26	FFCP PHASE1:Hg19::chr9:125231389..125231402,+	p2@OR1J2
1.64e-26	FFCP PHASE2:Hg19::chr9:125231389..125231402,+	p2@OR1J2
3.62e-26	FFCP PHASE1:Hg19::chr9:110047130..110047161,+	p9@RAD23B
3.62e-26	FFCP PHASE2:Hg19::chr9:110047130..110047161,+	p9@RAD23B
2.55e-25	FFCP PHASE2:Hg19::chr2:238187300..238187323,-	p@chr2:238187300..238187323, -
2.55e-25	FFCP PHASE1:Hg19::chr2:238187300..238187323,-	p@chr2:238187300..238187323, -
5.73e-25	FFCP PHASE1:Hg19::chr19:43689230..43689259,+	p@chr19:43689230..43689259, +
5.73e-25	FFCP PHASE2:Hg19::chr19:43689230..43689259,+	p@chr19:43689230..43689259, +
6.31e-25	FFCP PHASE2:Hg19::chr7:45952643..45952654,-	p22@IGFBP3
6.31e-25	FFCP PHASE1:Hg19::chr7:45952643..45952654,-	p22@IGFBP3
7.53e-25	FFCP PHASE2:Hg19::chr5:167181899..167181909,+	p14@ODZ2
7.53e-25	FFCP PHASE1:Hg19::chr5:167181899..167181909,+	p14@ODZ2
1.06e-24	FFCP PHASE1:Hg19::chr6:75914944..75914952,-	p@chr6:75914944..75914952, -
1.06e-24	FFCP PHASE2:Hg19::chr6:75914944..75914952,-	p@chr6:75914944..75914952, -
2.95e-24	FFCP PHASE1:Hg19::chr5:167148342..167148357,+	p1@ENST00000517346
2.95e-24	FFCP PHASE2:Hg19::chr5:167148342..167148357,+	p1@ENST00000517346
3.45e-24	FFCP PHASE1:Hg19::chr6:75886595..75886610,-	p@chr6:75886595..75886610, -
3.45e-24	FFCP PHASE2:Hg19::chr6:75886595..75886610,-	p@chr6:75886595..75886610, -
5.36e-24	FFCP PHASE2:Hg19::chr3:58021410..58021424,+	p@chr3:58021410..58021424, +
5.36e-24	FFCP PHASE1:Hg19::chr3:58021410..58021424,+	p@chr3:58021410..58021424, +
8.78e-24	FFCP PHASE2:Hg19::chr12:88813132..88813143,-	p@chr12:88813132..88813143, -
8.78e-24	FFCP PHASE1:Hg19::chr12:88813132..88813143,-	p@chr12:88813132..88813143, -
1.02e-23	FFCP PHASE2:Hg19::chr1:197886561..197886569,+	p10@LHX9
1.02e-23	FFCP PHASE1:Hg19::chr1:197886561..197886569,+	p10@LHX9
1.03e-23	FFCP PHASE2:Hg19::chr7:84122019..84122030,-	p18@SEMA3A
1.03e-23	FFCP PHASE1:Hg19::chr7:84122019..84122030,-	p18@SEMA3A
3.29e-23	FFCP PHASE2:Hg19::chrX:119693827..119693835,-	p24@CUL4B
3.29e-23	FFCP PHASE1:Hg19::chrX:119693827..119693835,-	p24@CUL4B

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