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(Created page with "{{DOID |id=DOID:11722 |name=myotonic dystrophy |namespace= |def= |xref= |is_a=DOID:450 |synonym="Dystrophia myotonica" EXACT [SNOMEDCT_2005_07_31:267713009];;"Dystrophi...")
 
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|id=DOID:11722
|id=DOID:11722
|name=myotonic dystrophy
|name=myotonic dystrophy
|namespace=
|namespace=disease_ontology
|def=
|def=
|xref=
|xref=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
|is_a=DOID:450
|is_a=DOID:450
|synonym="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]
|synonym="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]
|comment=
|comment=OMIM mapping confirmed by DO. [SN].
|alt_id=
|alt_id=
|disjoint_from=
|disjoint_from=
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|located_in=
|located_in=
|part_of=
|part_of=
|property_value=IAO:0000412 file:/Users/cjm/Dropbox/fantom5/HumanDO.obo
|is_obsolete=
|preceded_by=
}}
}}

Revision as of 13:59, 11 June 2012

Name:myotonic dystrophy
Namespace:disease_ontology
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<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:450(myotonic disease)



Children
NA

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:11722 (myotonic dystrophy), 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 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 PHASE1:Hg19::chr4:184271970..184271992,-#_8241682261f542f8802075c092630105p@chr4:184271970..184271992, -
3.99e-52FFCP PHASE2:Hg19::chr4:184271970..184271992,-#_8241682261f542f8802075c092630105p@chr4:184271970..184271992, -
3.24e-51FFCP PHASE1:Hg19::chr15:33180622..33180633,-#_9d8d0eecb747a23da321aa10b3291157p13@FMN1
3.24e-51FFCP PHASE2:Hg19::chr15:33180622..33180633,-#_9d8d0eecb747a23da321aa10b3291157p13@FMN1
8.65e-49FFCP PHASE1:Hg19::chr1:198636401..198636419,-#_8d612879e10bf6339d3bd312beffb37ap3@ENST00000413577
8.65e-49FFCP PHASE1:Hg19::chr13:24044200..24044211,+#_8d612879e10bf6339d3bd312beffb37ap2@LINC00327
8.65e-49FFCP PHASE2:Hg19::chr13:24044200..24044211,+#_8d612879e10bf6339d3bd312beffb37ap2@LINC00327
8.65e-49FFCP PHASE2:Hg19::chr1:198636401..198636419,-#_8d612879e10bf6339d3bd312beffb37ap3@ENST00000413577
8.92e-46FFCP PHASE2:Hg19::chr1:197886646..197886657,+#_645b1130b43c805c2aa0a88b4c62d848p5@LHX9
8.92e-46FFCP PHASE1:Hg19::chr1:197886646..197886657,+#_645b1130b43c805c2aa0a88b4c62d848p5@LHX9
3.84e-42FFCP PHASE1:Hg19::chr22:48819856..48819861,+#_49928e56d477341b7c729c88404026e2p@chr22:48819856..48819861, +
3.84e-42FFCP PHASE2: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 PHASE2:Hg19::chr2:100323985..100323997,-#_54c041ca3c479254247c4dab569e764dp@chr2:100323985..100323997, -
2.71e-40FFCP PHASE1: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 PHASE2:Hg19::chr15:33180498..33180522,-#_eb2f416ddb85ed7ee2c74873a7440241p4@FMN1
2.05e-39FFCP PHASE1: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 PHASE2:Hg19::chr1:197889151..197889159,+#_fa9ce4eb1d8ac965e6355df38f2cb77ep@chr1:197889151..197889159, +
3.86e-33FFCP PHASE1: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 PHASE2:Hg19::chr1:197886772..197886790,+#_b23ea19ab069bd9cd2aef6aa6ec963bdp4@LHX9
4.31e-33FFCP PHASE1: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 PHASE2:Hg19::chr8:23564380..23564391,+#_fe109e950d54935273341ffb0b4b2bc3p1@ENST00000523874
9.4e-33FFCP PHASE1: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 PHASE2:Hg19::chr2:239778648..239778664,+#_bdc4ef0ee11e9247c470c04dc4223984p@chr2:239778648..239778664, +
6.36e-30FFCP PHASE1:Hg19::chr2:239778648..239778664,+#_bdc4ef0ee11e9247c470c04dc4223984p@chr2:239778648..239778664, +
7.23e-30FFCP PHASE1:Hg19::chr15:39880996..39881011,+#_bfefd0032ae078438d269825ead3574ap41@THBS1
7.23e-30FFCP PHASE2:Hg19::chr15:39880996..39881011,+#_bfefd0032ae078438d269825ead3574ap41@THBS1
3.13e-29FFCP PHASE1:Hg19::chr2:158114405..158114413,+#_695f36c78111fcac1e37b33384c4432ep11@GALNT5
3.13e-29FFCP PHASE2:Hg19::chr2:158114405..158114413,+#_695f36c78111fcac1e37b33384c4432ep11@GALNT5
6.34e-29FFCP PHASE1:Hg19::chr12:114845970..114846000,+#_69a544372b1eca237232481d0b449d39p1@LOC255480
6.34e-29FFCP PHASE2:Hg19::chr12:114845970..114846000,+#_69a544372b1eca237232481d0b449d39p1@LOC255480
2.45e-28FFCP PHASE1:Hg19::chr6:113697548..113697566,-#_f37dae2ff5cfb033c790ca43ca761645p@chr6:113697548..113697566, -
2.45e-28FFCP PHASE2:Hg19::chr6:113697548..113697566,-#_f37dae2ff5cfb033c790ca43ca761645p@chr6:113697548..113697566, -
6.02e-28FFCP PHASE2:Hg19::chr15:39593792..39593816,-#_90349af2a1fdb1e6715f6447d6b7913cp@chr15:39593792..39593816, -
6.02e-28FFCP PHASE1:Hg19::chr15:39593792..39593816,-#_90349af2a1fdb1e6715f6447d6b7913cp@chr15:39593792..39593816, -
2.04e-27FFCP PHASE1:Hg19::chr12:10084960..10084974,-#_6cd8b32d39def4153fb4b27eff02b18fp1@CLEC2A
2.04e-27FFCP PHASE2: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,+#_c5f3e164e3c4c3a53e882dc1bfd21d86p@chr7:131195751..131195762, +
2.72e-27FFCP PHASE1:Hg19::chr10:129815627..129815630,+#_12a582b0374734714ba03c14906fc678p@chr10:129815627..129815630, +
2.72e-27FFCP PHASE2:Hg19::chr10:129815627..129815630,+#_12a582b0374734714ba03c14906fc678p@chr10:129815627..129815630, +
3.55e-27FFCP PHASE1:Hg19::chr12:91539677..91539688,-#_b96ae4359ef43ba23000f9c8a8ad081cp@chr12:91539677..91539688, -
3.55e-27FFCP PHASE2:Hg19::chr12:91539677..91539688,-#_b96ae4359ef43ba23000f9c8a8ad081cp@chr12:91539677..91539688, -
6.88e-27FFCP PHASE1:Hg19::chr8:23564065..23564087,-#_64eb3d2ac886b34c863e49600f2422aap1@NKX2-6
6.88e-27FFCP PHASE2: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 PHASE1:Hg19::chr2:238187300..238187323,-#_603f68a30ae7acba0bb8a6cebd6fe6fbp@chr2:238187300..238187323, -
2.55e-25FFCP PHASE2: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 PHASE2:Hg19::chr6:75914944..75914952,-#_d205d2650a770b9d8d7f35663f392626p@chr6:75914944..75914952, -
1.06e-24FFCP PHASE1:Hg19::chr6:75914944..75914952,-#_d205d2650a770b9d8d7f35663f392626p@chr6:75914944..75914952, -
2.95e-24FFCP PHASE1:Hg19::chr5:167148342..167148357,+#_405e3998783126238b653463dede509bp1@ENST00000517346
2.95e-24FFCP PHASE2: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 PHASE1:Hg19::chr3:58021410..58021424,+#_3a8ac3728d26a34f28dd6e49bd8fe1f2p@chr3:58021410..58021424, +
5.36e-24FFCP PHASE2:Hg19::chr3:58021410..58021424,+#_3a8ac3728d26a34f28dd6e49bd8fe1f2p@chr3:58021410..58021424, +
8.78e-24FFCP PHASE1:Hg19::chr12:88813132..88813143,-#_94fb37b1afd20195a31e605d62a81adfp@chr12:88813132..88813143, -
8.78e-24FFCP PHASE2: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 PHASE1:Hg19::chr7:84122019..84122030,-#_ed68fd00a36603c59d3e670d13a6c3a2p18@SEMA3A
1.03e-23FFCP PHASE2: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

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