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DOID:11722

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Name:myotonic dystrophy
Namespace:FANTOM
Xrefs:
links:

MSH:D009223
NCI:C84914
OMIM:160900
OMIM:602668
SNOMEDCT_2010_1_31:155096007
SNOMEDCT_2010_1_31:267713009
SNOMEDCT_2010_1_31:77956009

UMLS_CUI:C0027126
Synonyms: "Dystrophia myotonica" EXACT [SNOMEDCT_2005_07_31:267713009]
"Dystrophia myotonica" EXACT [SNOMEDCT_2005_07_31:155096007]
"Dystrophia myotonica" EXACT [MTHICD9_2006:359.2]
"Steinert myotonic dystrophy syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:77956009]
"Steinert's disease" EXACT [CSP2005:1849-6719]
Comments:OMIM mapping confirmed by DO. [SN].

Ontology association
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.

link to ontology dataset
data


Parents

is_a:DOID:450(myotonic disease)



Children
NA


Ontology Tree: Loaded from BioPortal

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:11722 (myotonic dystrophy), sorted by p-values
Analyst: Hideya Kawaji

link to source dataset
human : data
mouse : data


P-valueFFCPShort description
1.5e-156FFCP PHASE1:Hg19::chr15:33180439..33180446,-#_eaa6b5507743bfd73d43e9944445318fp@chr15:33180439..33180446, -
1.5e-156FFCP PHASE2:Hg19::chr15:33180439..33180446,-#_eaa6b5507743bfd73d43e9944445318fp@chr15:33180439..33180446, -
6.23e-66FFCP PHASE2:Hg19::chr13:24044226..24044237,+#_ce06511594f2f00465f58c1b3303a63bp1@LINC00327
6.23e-66FFCP PHASE1:Hg19::chr13:24044226..24044237,+#_ce06511594f2f00465f58c1b3303a63bp1@LINC00327
3.99e-52FFCP PHASE2:Hg19::chr4:184271970..184271992,-#_8241682261f542f8802075c092630105p@chr4:184271970..184271992, -
3.99e-52FFCP PHASE1:Hg19::chr4:184271970..184271992,-#_8241682261f542f8802075c092630105p@chr4:184271970..184271992, -
3.24e-51FFCP PHASE2:Hg19::chr15:33180622..33180633,-#_9d8d0eecb747a23da321aa10b3291157p13@FMN1
3.24e-51FFCP PHASE1:Hg19::chr15:33180622..33180633,-#_9d8d0eecb747a23da321aa10b3291157p13@FMN1
8.65e-49FFCP PHASE2:Hg19::chr1:198636401..198636419,-#_8d612879e10bf6339d3bd312beffb37ap3@ENST00000413577
8.65e-49FFCP PHASE1:Hg19::chr13:24044200..24044211,+#_8d612879e10bf6339d3bd312beffb37ap2@LINC00327
8.65e-49FFCP PHASE1:Hg19::chr1:198636401..198636419,-#_8d612879e10bf6339d3bd312beffb37ap3@ENST00000413577
8.65e-49FFCP PHASE2:Hg19::chr13:24044200..24044211,+#_8d612879e10bf6339d3bd312beffb37ap2@LINC00327
8.92e-46FFCP PHASE1:Hg19::chr1:197886646..197886657,+#_645b1130b43c805c2aa0a88b4c62d848p5@LHX9
8.92e-46FFCP PHASE2:Hg19::chr1:197886646..197886657,+#_645b1130b43c805c2aa0a88b4c62d848p5@LHX9
3.84e-42FFCP PHASE2:Hg19::chr22:48819856..48819861,+#_49928e56d477341b7c729c88404026e2p@chr22:48819856..48819861, +
3.84e-42FFCP PHASE1:Hg19::chr22:48819856..48819861,+#_49928e56d477341b7c729c88404026e2p@chr22:48819856..48819861, +
1.48e-40FFCP PHASE2:Hg19::chr1:55505693..55505698,+#_ec23ca78965f3b9108d34868c23d2ae7p7@PCSK9
1.48e-40FFCP PHASE1:Hg19::chr1:55505693..55505698,+#_ec23ca78965f3b9108d34868c23d2ae7p7@PCSK9
2.71e-40FFCP PHASE1:Hg19::chr2:100323985..100323997,-#_54c041ca3c479254247c4dab569e764dp@chr2:100323985..100323997, -
2.71e-40FFCP PHASE2:Hg19::chr2:100323985..100323997,-#_54c041ca3c479254247c4dab569e764dp@chr2:100323985..100323997, -
5.85e-40FFCP PHASE1:Hg19::chr15:39571769..39571781,-#_1b778dae2a52a7dcd1c2fc8dfc61be53p@chr15:39571769..39571781, -
5.85e-40FFCP PHASE2:Hg19::chr15:39571769..39571781,-#_1b778dae2a52a7dcd1c2fc8dfc61be53p@chr15:39571769..39571781, -
2.05e-39FFCP PHASE1:Hg19::chr15:33180498..33180522,-#_eb2f416ddb85ed7ee2c74873a7440241p4@FMN1
2.05e-39FFCP PHASE2:Hg19::chr15:33180498..33180522,-#_eb2f416ddb85ed7ee2c74873a7440241p4@FMN1
7.88e-38FFCP PHASE2:Hg19::chrX:3102846..3102872,+#_0c4761926addea9d6aefff3125c1c369p@chrX:3102846..3102872, +
7.88e-38FFCP PHASE1:Hg19::chrX:3102846..3102872,+#_0c4761926addea9d6aefff3125c1c369p@chrX:3102846..3102872, +
8.51e-37FFCP PHASE1:Hg19::chr1:198636258..198636278,-#_b5ad5af018308e786a7ccc80fbccbe19p1@ENST00000413577
8.51e-37FFCP PHASE2:Hg19::chr1:198636258..198636278,-#_b5ad5af018308e786a7ccc80fbccbe19p1@ENST00000413577
2.0e-36FFCP PHASE2:Hg19::chr2:100323966..100323983,-#_d606bfc1f0c49555a729d65add252695p@chr2:100323966..100323983, -
2.0e-36FFCP PHASE1:Hg19::chr2:100323966..100323983,-#_d606bfc1f0c49555a729d65add252695p@chr2:100323966..100323983, -
1.82e-34FFCP PHASE2:Hg19::chr1:197886421..197886432,+#_fbadb334ca477fae0afff5e66ef4364fp2@LHX9
1.82e-34FFCP PHASE1:Hg19::chr1:197886421..197886432,+#_fbadb334ca477fae0afff5e66ef4364fp2@LHX9
3.86e-33FFCP PHASE1:Hg19::chr1:197889151..197889159,+#_fa9ce4eb1d8ac965e6355df38f2cb77ep@chr1:197889151..197889159, +
3.86e-33FFCP PHASE2:Hg19::chr1:197889151..197889159,+#_fa9ce4eb1d8ac965e6355df38f2cb77ep@chr1:197889151..197889159, +
4.23e-33FFCP PHASE2:Hg19::chr5:167181769..167181798,+#_c90ff67f0a2dc507305b3ee85e48d16ep17@ODZ2
4.23e-33FFCP PHASE1:Hg19::chr5:167181769..167181798,+#_c90ff67f0a2dc507305b3ee85e48d16ep17@ODZ2
4.31e-33FFCP PHASE1:Hg19::chr1:197886772..197886790,+#_b23ea19ab069bd9cd2aef6aa6ec963bdp4@LHX9
4.31e-33FFCP PHASE2:Hg19::chr1:197886772..197886790,+#_b23ea19ab069bd9cd2aef6aa6ec963bdp4@LHX9
6.67e-33FFCP PHASE2:Hg19::chr1:197886617..197886628,+#_b0b94c2c3d93e047c7fc87ae6446f3b8p8@LHX9
6.67e-33FFCP PHASE1:Hg19::chr1:197886617..197886628,+#_b0b94c2c3d93e047c7fc87ae6446f3b8p8@LHX9
9.31e-33FFCP PHASE1:Hg19::chr14:32963433..32963487,+#_20e59da890334910f8fedb2d1421f8bbp4@AKAP6
9.31e-33FFCP PHASE2:Hg19::chr14:32963433..32963487,+#_20e59da890334910f8fedb2d1421f8bbp4@AKAP6
9.4e-33FFCP PHASE1:Hg19::chr8:23564380..23564391,+#_fe109e950d54935273341ffb0b4b2bc3p1@ENST00000523874
9.4e-33FFCP PHASE2:Hg19::chr8:23564380..23564391,+#_fe109e950d54935273341ffb0b4b2bc3p1@ENST00000523874
1.7e-32FFCP PHASE2:Hg19::chr20:52570906..52570909,-#_4373b1fe0083bd7ad93a49cd0d3ae78bp@chr20:52570906..52570909, -
1.7e-32FFCP PHASE1:Hg19::chr20:52570906..52570909,-#_4373b1fe0083bd7ad93a49cd0d3ae78bp@chr20:52570906..52570909, -
1.23e-30FFCP PHASE1:Hg19::chr1:197886665..197886732,+#_2461ea92bfd1da360d1831cac31d0129p3@LHX9
1.23e-30FFCP PHASE2:Hg19::chr1:197886665..197886732,+#_2461ea92bfd1da360d1831cac31d0129p3@LHX9
1.42e-30FFCP PHASE1:Hg19::chr15:33180558..33180570,-#_1e91a7f8484f9d11bf391e2b9ff273f1p9@FMN1
1.42e-30FFCP PHASE2:Hg19::chr15:33180558..33180570,-#_1e91a7f8484f9d11bf391e2b9ff273f1p9@FMN1
6.36e-30FFCP PHASE1:Hg19::chr2:239778648..239778664,+#_bdc4ef0ee11e9247c470c04dc4223984+, p@chr2:239778648..239778664
6.36e-30FFCP PHASE2:Hg19::chr2:239778648..239778664,+#_bdc4ef0ee11e9247c470c04dc4223984p@chr2:239778648..239778664, +
7.23e-30FFCP PHASE2:Hg19::chr15:39880996..39881011,+#_bfefd0032ae078438d269825ead3574ap41@THBS1
7.23e-30FFCP PHASE1:Hg19::chr15:39880996..39881011,+#_bfefd0032ae078438d269825ead3574ap41@THBS1
3.13e-29FFCP PHASE2:Hg19::chr2:158114405..158114413,+#_695f36c78111fcac1e37b33384c4432ep11@GALNT5
3.13e-29FFCP PHASE1:Hg19::chr2:158114405..158114413,+#_695f36c78111fcac1e37b33384c4432ep11@GALNT5
6.34e-29FFCP PHASE2:Hg19::chr12:114845970..114846000,+#_69a544372b1eca237232481d0b449d39p1@LOC255480
6.34e-29FFCP PHASE1:Hg19::chr12:114845970..114846000,+#_69a544372b1eca237232481d0b449d39p1@LOC255480
2.45e-28FFCP PHASE2:Hg19::chr6:113697548..113697566,-#_f37dae2ff5cfb033c790ca43ca761645p@chr6:113697548..113697566, -
2.45e-28FFCP PHASE1:Hg19::chr6:113697548..113697566,-#_f37dae2ff5cfb033c790ca43ca761645p@chr6:113697548..113697566, -
6.02e-28FFCP PHASE1:Hg19::chr15:39593792..39593816,-#_90349af2a1fdb1e6715f6447d6b7913cp@chr15:39593792..39593816, -
6.02e-28FFCP PHASE2:Hg19::chr15:39593792..39593816,-#_90349af2a1fdb1e6715f6447d6b7913cp@chr15:39593792..39593816, -
2.04e-27FFCP PHASE2:Hg19::chr12:10084960..10084974,-#_6cd8b32d39def4153fb4b27eff02b18fp1@CLEC2A
2.04e-27FFCP PHASE1:Hg19::chr12:10084960..10084974,-#_6cd8b32d39def4153fb4b27eff02b18fp1@CLEC2A
2.08e-27FFCP PHASE2:Hg19::chr7:131195751..131195762,+#_c5f3e164e3c4c3a53e882dc1bfd21d86p@chr7:131195751..131195762, +
2.08e-27FFCP PHASE1:Hg19::chr7:131195751..131195762,+#_c5f3e164e3c4c3a53e882dc1bfd21d86+, p@chr7:131195751..131195762
2.72e-27FFCP PHASE2:Hg19::chr10:129815627..129815630,+#_12a582b0374734714ba03c14906fc678p@chr10:129815627..129815630, +
2.72e-27FFCP PHASE1:Hg19::chr10:129815627..129815630,+#_12a582b0374734714ba03c14906fc678p@chr10:129815627..129815630, +
3.55e-27FFCP PHASE2:Hg19::chr12:91539677..91539688,-#_b96ae4359ef43ba23000f9c8a8ad081cp@chr12:91539677..91539688, -
3.55e-27FFCP PHASE1:Hg19::chr12:91539677..91539688,-#_b96ae4359ef43ba23000f9c8a8ad081cp@chr12:91539677..91539688, -
6.88e-27FFCP PHASE2:Hg19::chr8:23564065..23564087,-#_64eb3d2ac886b34c863e49600f2422aap1@NKX2-6
6.88e-27FFCP PHASE1:Hg19::chr8:23564065..23564087,-#_64eb3d2ac886b34c863e49600f2422aap1@NKX2-6
1.64e-26FFCP PHASE2:Hg19::chr9:125231389..125231402,+#_427752a69539a20c8fe362782507f8fdp2@OR1J2
1.64e-26FFCP PHASE1:Hg19::chr9:125231389..125231402,+#_427752a69539a20c8fe362782507f8fdp2@OR1J2
3.62e-26FFCP PHASE1:Hg19::chr9:110047130..110047161,+#_eba83b637837801b10931b31d5a6b954p9@RAD23B
3.62e-26FFCP PHASE2:Hg19::chr9:110047130..110047161,+#_eba83b637837801b10931b31d5a6b954p9@RAD23B
2.55e-25FFCP PHASE2:Hg19::chr2:238187300..238187323,-#_603f68a30ae7acba0bb8a6cebd6fe6fbp@chr2:238187300..238187323, -
2.55e-25FFCP PHASE1:Hg19::chr2:238187300..238187323,-#_603f68a30ae7acba0bb8a6cebd6fe6fbp@chr2:238187300..238187323, -
5.73e-25FFCP PHASE2:Hg19::chr19:43689230..43689259,+#_e1bef1e7bb6535ebabf94aa190d88b34p@chr19:43689230..43689259, +
5.73e-25FFCP PHASE1:Hg19::chr19:43689230..43689259,+#_e1bef1e7bb6535ebabf94aa190d88b34p@chr19:43689230..43689259, +
6.31e-25FFCP PHASE2:Hg19::chr7:45952643..45952654,-#_5f1105aa254ad61c1fdad81977345e3bp22@IGFBP3
6.31e-25FFCP PHASE1:Hg19::chr7:45952643..45952654,-#_5f1105aa254ad61c1fdad81977345e3bp22@IGFBP3
7.53e-25FFCP PHASE1:Hg19::chr5:167181899..167181909,+#_65e967842799007fa7f029d23097e11ap14@ODZ2
7.53e-25FFCP PHASE2:Hg19::chr5:167181899..167181909,+#_65e967842799007fa7f029d23097e11ap14@ODZ2
1.06e-24FFCP PHASE1:Hg19::chr6:75914944..75914952,-#_d205d2650a770b9d8d7f35663f392626p@chr6:75914944..75914952, -
1.06e-24FFCP PHASE2:Hg19::chr6:75914944..75914952,-#_d205d2650a770b9d8d7f35663f392626p@chr6:75914944..75914952, -
2.95e-24FFCP PHASE2:Hg19::chr5:167148342..167148357,+#_405e3998783126238b653463dede509bp1@ENST00000517346
2.95e-24FFCP PHASE1:Hg19::chr5:167148342..167148357,+#_405e3998783126238b653463dede509bp1@ENST00000517346
3.45e-24FFCP PHASE1:Hg19::chr6:75886595..75886610,-#_eb77ff7644b8e1a5a3261684808db7adp@chr6:75886595..75886610, -
3.45e-24FFCP PHASE2:Hg19::chr6:75886595..75886610,-#_eb77ff7644b8e1a5a3261684808db7adp@chr6:75886595..75886610, -
5.36e-24FFCP PHASE2:Hg19::chr3:58021410..58021424,+#_3a8ac3728d26a34f28dd6e49bd8fe1f2p@chr3:58021410..58021424, +
5.36e-24FFCP PHASE1:Hg19::chr3:58021410..58021424,+#_3a8ac3728d26a34f28dd6e49bd8fe1f2p@chr3:58021410..58021424, +
8.78e-24FFCP PHASE2:Hg19::chr12:88813132..88813143,-#_94fb37b1afd20195a31e605d62a81adfp@chr12:88813132..88813143, -
8.78e-24FFCP PHASE1:Hg19::chr12:88813132..88813143,-#_94fb37b1afd20195a31e605d62a81adfp@chr12:88813132..88813143, -
1.02e-23FFCP PHASE2:Hg19::chr1:197886561..197886569,+#_bc4ea46253ab62d1480a28d43b889310p10@LHX9
1.02e-23FFCP PHASE1:Hg19::chr1:197886561..197886569,+#_bc4ea46253ab62d1480a28d43b889310p10@LHX9
1.03e-23FFCP PHASE2:Hg19::chr7:84122019..84122030,-#_ed68fd00a36603c59d3e670d13a6c3a2p18@SEMA3A
1.03e-23FFCP PHASE1:Hg19::chr7:84122019..84122030,-#_ed68fd00a36603c59d3e670d13a6c3a2p18@SEMA3A
3.29e-23FFCP PHASE2:Hg19::chrX:119693827..119693835,-#_86071c6cdce292d47395da6f5ceffa3bp24@CUL4B
3.29e-23FFCP PHASE1:Hg19::chrX:119693827..119693835,-#_86071c6cdce292d47395da6f5ceffa3bp24@CUL4B