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DOID:450

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Name:myotonic disease
Namespace:disease_ontology
Xrefs:
links:

ICD9CM:359.2
MSH:D020967
NCI:C84913
SNOMEDCT_2010_1_31:155096007
SNOMEDCT_2010_1_31:193237003
SNOMEDCT_2010_1_31:193240003
SNOMEDCT_2010_1_31:267713009

UMLS_CUI:C0553604

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

Parents

is_a:DOID:423(myopathy)



Children


is a:DOID:11722 (myotonic dystrophy)

Ontology Tree: Loaded from BioPortal

Ontorolgy tree(Small window open)

FF samples

Human (Homo sapiens)

Mouse (Mus musculus)

Enrichment analysis: top 100 FFCP enriched with this ontology termTOP 100 FANTOM5 Cage Peaks enriched with DOID:450 (myotonic disease), sorted by p-values <br>Analyst: Hideya Kawaji<br><br>link to source dataset <br>human : data <br>mouse : data

P-valueFFCPShort description
1.5e-156FFCP PHASE2:Hg19::chr15:33180439..33180446,-#_5392e4880d51a02b2e8b4e37e3aa6fd4p@chr15:33180439..33180446, -
1.5e-156FFCP PHASE1:Hg19::chr15:33180439..33180446,-#_5392e4880d51a02b2e8b4e37e3aa6fd4p@chr15:33180439..33180446, -
6.23e-66FFCP PHASE1:Hg19::chr13:24044226..24044237,+#_e18a18263d6e4428ddbb8a621bc33c91p1@LINC00327
6.23e-66FFCP PHASE2:Hg19::chr13:24044226..24044237,+#_e18a18263d6e4428ddbb8a621bc33c91p1@LINC00327
3.99e-52FFCP PHASE2:Hg19::chr4:184271970..184271992,-#_7ac772cef5de9855b9f0c641667b2a06p@chr4:184271970..184271992, -
3.99e-52FFCP PHASE1:Hg19::chr4:184271970..184271992,-#_7ac772cef5de9855b9f0c641667b2a06p@chr4:184271970..184271992, -
3.24e-51FFCP PHASE1:Hg19::chr15:33180622..33180633,-#_866e3fa5c1c4304f6f68b91346c4c2f1p13@FMN1
3.24e-51FFCP PHASE2:Hg19::chr15:33180622..33180633,-#_866e3fa5c1c4304f6f68b91346c4c2f1p13@FMN1
8.65e-49FFCP PHASE2:Hg19::chr13:24044200..24044211,+#_7027fe68739a31fb4fe9a29e9aae02f0p2@LINC00327
8.65e-49FFCP PHASE2:Hg19::chr1:198636401..198636419,-#_7027fe68739a31fb4fe9a29e9aae02f0p3@ENST00000413577
8.65e-49FFCP PHASE1:Hg19::chr1:198636401..198636419,-#_7027fe68739a31fb4fe9a29e9aae02f0p3@ENST00000413577
8.65e-49FFCP PHASE1:Hg19::chr13:24044200..24044211,+#_7027fe68739a31fb4fe9a29e9aae02f0p2@LINC00327
8.92e-46FFCP PHASE2:Hg19::chr1:197886646..197886657,+#_d9be64293e0fb1c320cec6b669bd0de2p5@LHX9
8.92e-46FFCP PHASE1:Hg19::chr1:197886646..197886657,+#_d9be64293e0fb1c320cec6b669bd0de2p5@LHX9
3.84e-42FFCP PHASE1:Hg19::chr22:48819856..48819861,+#_a46c18ae37783672abe773d11f315627p@chr22:48819856..48819861, +
3.84e-42FFCP PHASE2:Hg19::chr22:48819856..48819861,+#_a46c18ae37783672abe773d11f315627p@chr22:48819856..48819861, +
1.48e-40FFCP PHASE1:Hg19::chr1:55505693..55505698,+#_fa743c7306ed6f637dd8aca75b2a3d04p7@PCSK9
1.48e-40FFCP PHASE2:Hg19::chr1:55505693..55505698,+#_fa743c7306ed6f637dd8aca75b2a3d04p7@PCSK9
2.71e-40FFCP PHASE2:Hg19::chr2:100323985..100323997,-#_4625b6a95cfcc22636e5e499100988fdp@chr2:100323985..100323997, -
2.71e-40FFCP PHASE1:Hg19::chr2:100323985..100323997,-#_4625b6a95cfcc22636e5e499100988fdp@chr2:100323985..100323997, -
5.85e-40FFCP PHASE2:Hg19::chr15:39571769..39571781,-#_a86bcde6d8e56dea89f1e38b81d7486ep@chr15:39571769..39571781, -
5.85e-40FFCP PHASE1:Hg19::chr15:39571769..39571781,-#_a86bcde6d8e56dea89f1e38b81d7486ep@chr15:39571769..39571781, -
2.05e-39FFCP PHASE1:Hg19::chr15:33180498..33180522,-#_ebfbc11875e88aaa845829d3bf0838a1p4@FMN1
2.05e-39FFCP PHASE2:Hg19::chr15:33180498..33180522,-#_ebfbc11875e88aaa845829d3bf0838a1p4@FMN1
7.88e-38FFCP PHASE1:Hg19::chrX:3102846..3102872,+#_e27d66c9e3e77f82cb70af5389d33320p@chrX:3102846..3102872, +
7.88e-38FFCP PHASE2:Hg19::chrX:3102846..3102872,+#_e27d66c9e3e77f82cb70af5389d33320p@chrX:3102846..3102872, +
8.51e-37FFCP PHASE2:Hg19::chr1:198636258..198636278,-#_3c8f0b6d91a2fef57c7aa9dce2d185bcp1@ENST00000413577
8.51e-37FFCP PHASE1:Hg19::chr1:198636258..198636278,-#_3c8f0b6d91a2fef57c7aa9dce2d185bcp1@ENST00000413577
2.0e-36FFCP PHASE1:Hg19::chr2:100323966..100323983,-#_cc43fd3e0a6bde9ba306aebd4902860dp@chr2:100323966..100323983, -
2.0e-36FFCP PHASE2:Hg19::chr2:100323966..100323983,-#_cc43fd3e0a6bde9ba306aebd4902860dp@chr2:100323966..100323983, -
1.82e-34FFCP PHASE2:Hg19::chr1:197886421..197886432,+#_74cbcd1ae5509f0cd5fd55fce0ef4c6dp2@LHX9
1.82e-34FFCP PHASE1:Hg19::chr1:197886421..197886432,+#_74cbcd1ae5509f0cd5fd55fce0ef4c6dp2@LHX9
3.86e-33FFCP PHASE2:Hg19::chr1:197889151..197889159,+#_ec008927a0535a8b0769189e979f0936p@chr1:197889151..197889159, +
3.86e-33FFCP PHASE1:Hg19::chr1:197889151..197889159,+#_ec008927a0535a8b0769189e979f0936p@chr1:197889151..197889159, +
4.23e-33FFCP PHASE2:Hg19::chr5:167181769..167181798,+#_2bea4a353eb4c0c64d7efd8d023a4ed5p17@ODZ2
4.23e-33FFCP PHASE1:Hg19::chr5:167181769..167181798,+#_2bea4a353eb4c0c64d7efd8d023a4ed5p17@ODZ2
4.31e-33FFCP PHASE2:Hg19::chr1:197886772..197886790,+#_18b7917657be95b734aedc4fc1ddd485p4@LHX9
4.31e-33FFCP PHASE1:Hg19::chr1:197886772..197886790,+#_18b7917657be95b734aedc4fc1ddd485p4@LHX9
6.67e-33FFCP PHASE2:Hg19::chr1:197886617..197886628,+#_cb88dc851155ae5eb172ccd6f61de556p8@LHX9
6.67e-33FFCP PHASE1:Hg19::chr1:197886617..197886628,+#_cb88dc851155ae5eb172ccd6f61de556p8@LHX9
9.31e-33FFCP PHASE2:Hg19::chr14:32963433..32963487,+#_45147c5d4f32571ab5d8d3828a723d32p4@AKAP6
9.31e-33FFCP PHASE1:Hg19::chr14:32963433..32963487,+#_45147c5d4f32571ab5d8d3828a723d32p4@AKAP6
9.4e-33FFCP PHASE2:Hg19::chr8:23564380..23564391,+#_5674c39922c725226d7c6db40e9a68bbp1@ENST00000523874
9.4e-33FFCP PHASE1:Hg19::chr8:23564380..23564391,+#_5674c39922c725226d7c6db40e9a68bbp1@ENST00000523874
1.7e-32FFCP PHASE1:Hg19::chr20:52570906..52570909,-#_1692447faa121b5958f2700d4706f6a7p@chr20:52570906..52570909, -
1.7e-32FFCP PHASE2:Hg19::chr20:52570906..52570909,-#_1692447faa121b5958f2700d4706f6a7p@chr20:52570906..52570909, -
1.23e-30FFCP PHASE2:Hg19::chr1:197886665..197886732,+#_59e5730926d027584661fc11d9042f86p3@LHX9
1.23e-30FFCP PHASE1:Hg19::chr1:197886665..197886732,+#_59e5730926d027584661fc11d9042f86p3@LHX9
1.42e-30FFCP PHASE1:Hg19::chr15:33180558..33180570,-#_e8049ad4e8c4b8f9ebae414e604711c7p9@FMN1
1.42e-30FFCP PHASE2:Hg19::chr15:33180558..33180570,-#_e8049ad4e8c4b8f9ebae414e604711c7p9@FMN1
6.36e-30FFCP PHASE2:Hg19::chr2:239778648..239778664,+#_2e3b8918d9f495351684885e83d23e4dp@chr2:239778648..239778664, +
6.36e-30FFCP PHASE1:Hg19::chr2:239778648..239778664,+#_2e3b8918d9f495351684885e83d23e4dp@chr2:239778648..239778664, +
7.23e-30FFCP PHASE1:Hg19::chr15:39880996..39881011,+#_ba76c3b9c31f6b2e92d40be2b6a4cff4p41@THBS1
7.23e-30FFCP PHASE2:Hg19::chr15:39880996..39881011,+#_ba76c3b9c31f6b2e92d40be2b6a4cff4p41@THBS1
3.13e-29FFCP PHASE2:Hg19::chr2:158114405..158114413,+#_6470155e6a2508db75599af6390f97e8p11@GALNT5
3.13e-29FFCP PHASE1:Hg19::chr2:158114405..158114413,+#_6470155e6a2508db75599af6390f97e8p11@GALNT5
6.34e-29FFCP PHASE2:Hg19::chr12:114845970..114846000,+#_98771b7ac472cf31daea33cf3f0c0ebdp1@LOC255480
6.34e-29FFCP PHASE1:Hg19::chr12:114845970..114846000,+#_98771b7ac472cf31daea33cf3f0c0ebdp1@LOC255480
2.45e-28FFCP PHASE2:Hg19::chr6:113697548..113697566,-#_846a27ef299e043f51a3143c9952b82ep@chr6:113697548..113697566, -
2.45e-28FFCP PHASE1:Hg19::chr6:113697548..113697566,-#_846a27ef299e043f51a3143c9952b82ep@chr6:113697548..113697566, -
6.02e-28FFCP PHASE2:Hg19::chr15:39593792..39593816,-#_5aa6f2b2822da0aef9fa37736d0ef819p@chr15:39593792..39593816, -
6.02e-28FFCP PHASE1:Hg19::chr15:39593792..39593816,-#_5aa6f2b2822da0aef9fa37736d0ef819p@chr15:39593792..39593816, -
2.04e-27FFCP PHASE2:Hg19::chr12:10084960..10084974,-#_07afa90f7d0a9011e62219f64a9d708ap1@CLEC2A
2.04e-27FFCP PHASE1:Hg19::chr12:10084960..10084974,-#_07afa90f7d0a9011e62219f64a9d708ap1@CLEC2A
2.08e-27FFCP PHASE1:Hg19::chr7:131195751..131195762,+#_8020fdf140b17abaf2524e38ea354982p@chr7:131195751..131195762, +
2.08e-27FFCP PHASE2:Hg19::chr7:131195751..131195762,+#_8020fdf140b17abaf2524e38ea354982p@chr7:131195751..131195762, +
2.72e-27FFCP PHASE2:Hg19::chr10:129815627..129815630,+#_02574c511d7370ddee3a05e16ea05d8dp@chr10:129815627..129815630, +
2.72e-27FFCP PHASE1:Hg19::chr10:129815627..129815630,+#_02574c511d7370ddee3a05e16ea05d8dp@chr10:129815627..129815630, +
3.55e-27FFCP PHASE1:Hg19::chr12:91539677..91539688,-#_aab766482b08fd040f4db7bbdb2039d1p@chr12:91539677..91539688, -
3.55e-27FFCP PHASE2:Hg19::chr12:91539677..91539688,-#_aab766482b08fd040f4db7bbdb2039d1p@chr12:91539677..91539688, -
6.88e-27FFCP PHASE2:Hg19::chr8:23564065..23564087,-#_63c4281ebba2d0d189acafc48940049bp1@NKX2-6
6.88e-27FFCP PHASE1:Hg19::chr8:23564065..23564087,-#_63c4281ebba2d0d189acafc48940049bp1@NKX2-6
1.64e-26FFCP PHASE2:Hg19::chr9:125231389..125231402,+#_3c8e41603b9af6e38b89e7fc6f95f9efp2@OR1J2
1.64e-26FFCP PHASE1:Hg19::chr9:125231389..125231402,+#_3c8e41603b9af6e38b89e7fc6f95f9efp2@OR1J2
3.62e-26FFCP PHASE2:Hg19::chr9:110047130..110047161,+#_9eaa0af2c67edd02b03b21b4f1a69072p9@RAD23B
3.62e-26FFCP PHASE1:Hg19::chr9:110047130..110047161,+#_9eaa0af2c67edd02b03b21b4f1a69072p9@RAD23B
2.55e-25FFCP PHASE2:Hg19::chr2:238187300..238187323,-#_31d1a95cbfdffaa7b824873182b05de3p@chr2:238187300..238187323, -
2.55e-25FFCP PHASE1:Hg19::chr2:238187300..238187323,-#_31d1a95cbfdffaa7b824873182b05de3p@chr2:238187300..238187323, -
5.73e-25FFCP PHASE1:Hg19::chr19:43689230..43689259,+#_a232ac579c1d2d7e147dc5ab0b2aaa60p@chr19:43689230..43689259, +
5.73e-25FFCP PHASE2:Hg19::chr19:43689230..43689259,+#_a232ac579c1d2d7e147dc5ab0b2aaa60p@chr19:43689230..43689259, +
6.31e-25FFCP PHASE1:Hg19::chr7:45952643..45952654,-#_e0bd8b6828048aeb4c36d327bf0fe232p22@IGFBP3
6.31e-25FFCP PHASE2:Hg19::chr7:45952643..45952654,-#_e0bd8b6828048aeb4c36d327bf0fe232p22@IGFBP3
7.53e-25FFCP PHASE1:Hg19::chr5:167181899..167181909,+#_f0ee12dd3d76843293279f44b1abe48fp14@ODZ2
7.53e-25FFCP PHASE2:Hg19::chr5:167181899..167181909,+#_f0ee12dd3d76843293279f44b1abe48fp14@ODZ2
1.06e-24FFCP PHASE1:Hg19::chr6:75914944..75914952,-#_b1f6ecacad8b3d2baea6d8bffb6164d3p@chr6:75914944..75914952, -
1.06e-24FFCP PHASE2:Hg19::chr6:75914944..75914952,-#_b1f6ecacad8b3d2baea6d8bffb6164d3p@chr6:75914944..75914952, -
2.95e-24FFCP PHASE2:Hg19::chr5:167148342..167148357,+#_93f458ede45839aa6130eaf107bcc916p1@ENST00000517346
2.95e-24FFCP PHASE1:Hg19::chr5:167148342..167148357,+#_93f458ede45839aa6130eaf107bcc916p1@ENST00000517346
3.45e-24FFCP PHASE1:Hg19::chr6:75886595..75886610,-#_d896b576bde13911dd16e0a8d493c579p@chr6:75886595..75886610, -
3.45e-24FFCP PHASE2:Hg19::chr6:75886595..75886610,-#_d896b576bde13911dd16e0a8d493c579p@chr6:75886595..75886610, -
5.36e-24FFCP PHASE2:Hg19::chr3:58021410..58021424,+#_bf74cb53bf386877dd2e02523b2d57fdp@chr3:58021410..58021424, +
5.36e-24FFCP PHASE1:Hg19::chr3:58021410..58021424,+#_bf74cb53bf386877dd2e02523b2d57fdp@chr3:58021410..58021424, +
8.78e-24FFCP PHASE1:Hg19::chr12:88813132..88813143,-#_fd6b632326d2a28e4bf76a7eeb9be0b2p@chr12:88813132..88813143, -
8.78e-24FFCP PHASE2:Hg19::chr12:88813132..88813143,-#_fd6b632326d2a28e4bf76a7eeb9be0b2p@chr12:88813132..88813143, -
1.02e-23FFCP PHASE2:Hg19::chr1:197886561..197886569,+#_88a42fce0964ed6295c9cfbd38b0d47ep10@LHX9
1.02e-23FFCP PHASE1:Hg19::chr1:197886561..197886569,+#_88a42fce0964ed6295c9cfbd38b0d47ep10@LHX9
1.03e-23FFCP PHASE2:Hg19::chr7:84122019..84122030,-#_d2589a1d61f81c2cef1519289f42b331p18@SEMA3A
1.03e-23FFCP PHASE1:Hg19::chr7:84122019..84122030,-#_d2589a1d61f81c2cef1519289f42b331p18@SEMA3A
3.29e-23FFCP PHASE1:Hg19::chrX:119693827..119693835,-#_6474f1e677b302c8268483b1109650a2p24@CUL4B
3.29e-23FFCP PHASE2:Hg19::chrX:119693827..119693835,-#_6474f1e677b302c8268483b1109650a2p24@CUL4B

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