DOID:11722: Difference between revisions
From FANTOM5_SSTAR
(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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| | |comment=OMIM mapping confirmed by DO. [SN]. | ||
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| | |def= | ||
|derives_from= | |derives_from= | ||
|develops_from= | |develops_from= | ||
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|has_quality= | |has_quality= | ||
|id=DOID:11722 | |||
|is_a=DOID:450 | |||
|is_obsolete= | |||
|located_in= | |located_in= | ||
|name=myotonic dystrophy | |||
|namespace=FANTOM | |||
|obo_creation_date= | |||
|part_of= | |part_of= | ||
|preceded_by= | |||
|property_value=IAO:0000412 file:/Users/cjm/Dropbox/fantom5/HumanDO.obo | |||
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|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] | |||
|union_of= | |||
|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 | |||
}} | }} | ||
Latest revision as of 16:48, 12 September 2014
| Name: | myotonic dystrophy | ||
|---|---|---|---|
| Namespace: | FANTOM | ||
| Xrefs: |
| ||
| 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)
- 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:11722 (myotonic dystrophy), sorted by p-values <br>Analyst: Hideya Kawaji<br><br>link to source dataset <br>human : data <br>mouse : data
| P-value | FFCP | Short description |
|---|---|---|
| 1.5e-156 | FFCP PHASE2:Hg19::chr15:33180439..33180446,-#_eaa6b5507743bfd73d43e9944445318f | p@chr15:33180439..33180446, - |
| 1.5e-156 | FFCP PHASE1:Hg19::chr15:33180439..33180446,-#_eaa6b5507743bfd73d43e9944445318f | p@chr15:33180439..33180446, - |
| 6.23e-66 | FFCP PHASE2:Hg19::chr13:24044226..24044237,+#_ce06511594f2f00465f58c1b3303a63b | p1@LINC00327 |
| 6.23e-66 | FFCP PHASE1:Hg19::chr13:24044226..24044237,+#_ce06511594f2f00465f58c1b3303a63b | p1@LINC00327 |
| 3.99e-52 | FFCP PHASE1:Hg19::chr4:184271970..184271992,-#_8241682261f542f8802075c092630105 | p@chr4:184271970..184271992, - |
| 3.99e-52 | FFCP PHASE2:Hg19::chr4:184271970..184271992,-#_8241682261f542f8802075c092630105 | p@chr4:184271970..184271992, - |
| 3.24e-51 | FFCP PHASE1:Hg19::chr15:33180622..33180633,-#_9d8d0eecb747a23da321aa10b3291157 | p13@FMN1 |
| 3.24e-51 | FFCP PHASE2:Hg19::chr15:33180622..33180633,-#_9d8d0eecb747a23da321aa10b3291157 | p13@FMN1 |
| 8.65e-49 | FFCP PHASE2:Hg19::chr13:24044200..24044211,+#_8d612879e10bf6339d3bd312beffb37a | p2@LINC00327 |
| 8.65e-49 | FFCP PHASE2:Hg19::chr1:198636401..198636419,-#_8d612879e10bf6339d3bd312beffb37a | p3@ENST00000413577 |
| 8.65e-49 | FFCP PHASE1:Hg19::chr1:198636401..198636419,-#_8d612879e10bf6339d3bd312beffb37a | p3@ENST00000413577 |
| 8.65e-49 | FFCP PHASE1:Hg19::chr13:24044200..24044211,+#_8d612879e10bf6339d3bd312beffb37a | p2@LINC00327 |
| 8.92e-46 | FFCP PHASE2:Hg19::chr1:197886646..197886657,+#_645b1130b43c805c2aa0a88b4c62d848 | p5@LHX9 |
| 8.92e-46 | FFCP PHASE1:Hg19::chr1:197886646..197886657,+#_645b1130b43c805c2aa0a88b4c62d848 | p5@LHX9 |
| 3.84e-42 | FFCP PHASE1:Hg19::chr22:48819856..48819861,+#_49928e56d477341b7c729c88404026e2 | p@chr22:48819856..48819861, + |
| 3.84e-42 | FFCP PHASE2:Hg19::chr22:48819856..48819861,+#_49928e56d477341b7c729c88404026e2 | p@chr22:48819856..48819861, + |
| 1.48e-40 | FFCP PHASE1:Hg19::chr1:55505693..55505698,+#_ec23ca78965f3b9108d34868c23d2ae7 | p7@PCSK9 |
| 1.48e-40 | FFCP PHASE2:Hg19::chr1:55505693..55505698,+#_ec23ca78965f3b9108d34868c23d2ae7 | p7@PCSK9 |
| 2.71e-40 | FFCP PHASE1:Hg19::chr2:100323985..100323997,-#_54c041ca3c479254247c4dab569e764d | p@chr2:100323985..100323997, - |
| 2.71e-40 | FFCP PHASE2:Hg19::chr2:100323985..100323997,-#_54c041ca3c479254247c4dab569e764d | p@chr2:100323985..100323997, - |
| 5.85e-40 | FFCP PHASE2:Hg19::chr15:39571769..39571781,-#_1b778dae2a52a7dcd1c2fc8dfc61be53 | p@chr15:39571769..39571781, - |
| 5.85e-40 | FFCP PHASE1:Hg19::chr15:39571769..39571781,-#_1b778dae2a52a7dcd1c2fc8dfc61be53 | p@chr15:39571769..39571781, - |
| 2.05e-39 | FFCP PHASE2:Hg19::chr15:33180498..33180522,-#_eb2f416ddb85ed7ee2c74873a7440241 | p4@FMN1 |
| 2.05e-39 | FFCP PHASE1:Hg19::chr15:33180498..33180522,-#_eb2f416ddb85ed7ee2c74873a7440241 | p4@FMN1 |
| 7.88e-38 | FFCP PHASE2:Hg19::chrX:3102846..3102872,+#_0c4761926addea9d6aefff3125c1c369 | p@chrX:3102846..3102872, + |
| 7.88e-38 | FFCP PHASE1:Hg19::chrX:3102846..3102872,+#_0c4761926addea9d6aefff3125c1c369 | p@chrX:3102846..3102872, + |
| 8.51e-37 | FFCP PHASE1:Hg19::chr1:198636258..198636278,-#_b5ad5af018308e786a7ccc80fbccbe19 | p1@ENST00000413577 |
| 8.51e-37 | FFCP PHASE2:Hg19::chr1:198636258..198636278,-#_b5ad5af018308e786a7ccc80fbccbe19 | p1@ENST00000413577 |
| 2.0e-36 | FFCP PHASE1:Hg19::chr2:100323966..100323983,-#_d606bfc1f0c49555a729d65add252695 | p@chr2:100323966..100323983, - |
| 2.0e-36 | FFCP PHASE2:Hg19::chr2:100323966..100323983,-#_d606bfc1f0c49555a729d65add252695 | p@chr2:100323966..100323983, - |
| 1.82e-34 | FFCP PHASE2:Hg19::chr1:197886421..197886432,+#_fbadb334ca477fae0afff5e66ef4364f | p2@LHX9 |
| 1.82e-34 | FFCP PHASE1:Hg19::chr1:197886421..197886432,+#_fbadb334ca477fae0afff5e66ef4364f | p2@LHX9 |
| 3.86e-33 | FFCP PHASE2:Hg19::chr1:197889151..197889159,+#_fa9ce4eb1d8ac965e6355df38f2cb77e | p@chr1:197889151..197889159, + |
| 3.86e-33 | FFCP PHASE1:Hg19::chr1:197889151..197889159,+#_fa9ce4eb1d8ac965e6355df38f2cb77e | p@chr1:197889151..197889159, + |
| 4.23e-33 | FFCP PHASE1:Hg19::chr5:167181769..167181798,+#_c90ff67f0a2dc507305b3ee85e48d16e | p17@ODZ2 |
| 4.23e-33 | FFCP PHASE2:Hg19::chr5:167181769..167181798,+#_c90ff67f0a2dc507305b3ee85e48d16e | p17@ODZ2 |
| 4.31e-33 | FFCP PHASE2:Hg19::chr1:197886772..197886790,+#_b23ea19ab069bd9cd2aef6aa6ec963bd | p4@LHX9 |
| 4.31e-33 | FFCP PHASE1:Hg19::chr1:197886772..197886790,+#_b23ea19ab069bd9cd2aef6aa6ec963bd | p4@LHX9 |
| 6.67e-33 | FFCP PHASE2:Hg19::chr1:197886617..197886628,+#_b0b94c2c3d93e047c7fc87ae6446f3b8 | p8@LHX9 |
| 6.67e-33 | FFCP PHASE1:Hg19::chr1:197886617..197886628,+#_b0b94c2c3d93e047c7fc87ae6446f3b8 | p8@LHX9 |
| 9.31e-33 | FFCP PHASE1:Hg19::chr14:32963433..32963487,+#_20e59da890334910f8fedb2d1421f8bb | p4@AKAP6 |
| 9.31e-33 | FFCP PHASE2:Hg19::chr14:32963433..32963487,+#_20e59da890334910f8fedb2d1421f8bb | p4@AKAP6 |
| 9.4e-33 | FFCP PHASE1:Hg19::chr8:23564380..23564391,+#_fe109e950d54935273341ffb0b4b2bc3 | p1@ENST00000523874 |
| 9.4e-33 | FFCP PHASE2:Hg19::chr8:23564380..23564391,+#_fe109e950d54935273341ffb0b4b2bc3 | p1@ENST00000523874 |
| 1.7e-32 | FFCP PHASE1:Hg19::chr20:52570906..52570909,-#_4373b1fe0083bd7ad93a49cd0d3ae78b | p@chr20:52570906..52570909, - |
| 1.7e-32 | FFCP PHASE2:Hg19::chr20:52570906..52570909,-#_4373b1fe0083bd7ad93a49cd0d3ae78b | p@chr20:52570906..52570909, - |
| 1.23e-30 | FFCP PHASE1:Hg19::chr1:197886665..197886732,+#_2461ea92bfd1da360d1831cac31d0129 | p3@LHX9 |
| 1.23e-30 | FFCP PHASE2:Hg19::chr1:197886665..197886732,+#_2461ea92bfd1da360d1831cac31d0129 | p3@LHX9 |
| 1.42e-30 | FFCP PHASE1:Hg19::chr15:33180558..33180570,-#_1e91a7f8484f9d11bf391e2b9ff273f1 | p9@FMN1 |
| 1.42e-30 | FFCP PHASE2:Hg19::chr15:33180558..33180570,-#_1e91a7f8484f9d11bf391e2b9ff273f1 | p9@FMN1 |
| 6.36e-30 | FFCP PHASE1:Hg19::chr2:239778648..239778664,+#_bdc4ef0ee11e9247c470c04dc4223984 | p@chr2:239778648..239778664, + |
| 6.36e-30 | FFCP PHASE2:Hg19::chr2:239778648..239778664,+#_bdc4ef0ee11e9247c470c04dc4223984 | p@chr2:239778648..239778664, + |
| 7.23e-30 | FFCP PHASE1:Hg19::chr15:39880996..39881011,+#_bfefd0032ae078438d269825ead3574a | p41@THBS1 |
| 7.23e-30 | FFCP PHASE2:Hg19::chr15:39880996..39881011,+#_bfefd0032ae078438d269825ead3574a | p41@THBS1 |
| 3.13e-29 | FFCP PHASE1:Hg19::chr2:158114405..158114413,+#_695f36c78111fcac1e37b33384c4432e | p11@GALNT5 |
| 3.13e-29 | FFCP PHASE2:Hg19::chr2:158114405..158114413,+#_695f36c78111fcac1e37b33384c4432e | p11@GALNT5 |
| 6.34e-29 | FFCP PHASE2:Hg19::chr12:114845970..114846000,+#_69a544372b1eca237232481d0b449d39 | p1@LOC255480 |
| 6.34e-29 | FFCP PHASE1:Hg19::chr12:114845970..114846000,+#_69a544372b1eca237232481d0b449d39 | p1@LOC255480 |
| 2.45e-28 | FFCP PHASE2:Hg19::chr6:113697548..113697566,-#_f37dae2ff5cfb033c790ca43ca761645 | p@chr6:113697548..113697566, - |
| 2.45e-28 | FFCP PHASE1:Hg19::chr6:113697548..113697566,-#_f37dae2ff5cfb033c790ca43ca761645 | p@chr6:113697548..113697566, - |
| 6.02e-28 | FFCP PHASE2:Hg19::chr15:39593792..39593816,-#_90349af2a1fdb1e6715f6447d6b7913c | p@chr15:39593792..39593816, - |
| 6.02e-28 | FFCP PHASE1:Hg19::chr15:39593792..39593816,-#_90349af2a1fdb1e6715f6447d6b7913c | p@chr15:39593792..39593816, - |
| 2.04e-27 | FFCP PHASE1:Hg19::chr12:10084960..10084974,-#_6cd8b32d39def4153fb4b27eff02b18f | p1@CLEC2A |
| 2.04e-27 | FFCP PHASE2:Hg19::chr12:10084960..10084974,-#_6cd8b32d39def4153fb4b27eff02b18f | p1@CLEC2A |
| 2.08e-27 | FFCP PHASE1:Hg19::chr7:131195751..131195762,+#_c5f3e164e3c4c3a53e882dc1bfd21d86 | p@chr7:131195751..131195762, + |
| 2.08e-27 | FFCP PHASE2:Hg19::chr7:131195751..131195762,+#_c5f3e164e3c4c3a53e882dc1bfd21d86 | p@chr7:131195751..131195762, + |
| 2.72e-27 | FFCP PHASE2:Hg19::chr10:129815627..129815630,+#_12a582b0374734714ba03c14906fc678 | p@chr10:129815627..129815630, + |
| 2.72e-27 | FFCP PHASE1:Hg19::chr10:129815627..129815630,+#_12a582b0374734714ba03c14906fc678 | p@chr10:129815627..129815630, + |
| 3.55e-27 | FFCP PHASE1:Hg19::chr12:91539677..91539688,-#_b96ae4359ef43ba23000f9c8a8ad081c | p@chr12:91539677..91539688, - |
| 3.55e-27 | FFCP PHASE2:Hg19::chr12:91539677..91539688,-#_b96ae4359ef43ba23000f9c8a8ad081c | p@chr12:91539677..91539688, - |
| 6.88e-27 | FFCP PHASE1:Hg19::chr8:23564065..23564087,-#_64eb3d2ac886b34c863e49600f2422aa | p1@NKX2-6 |
| 6.88e-27 | FFCP PHASE2:Hg19::chr8:23564065..23564087,-#_64eb3d2ac886b34c863e49600f2422aa | p1@NKX2-6 |
| 1.64e-26 | FFCP PHASE1:Hg19::chr9:125231389..125231402,+#_427752a69539a20c8fe362782507f8fd | p2@OR1J2 |
| 1.64e-26 | FFCP PHASE2:Hg19::chr9:125231389..125231402,+#_427752a69539a20c8fe362782507f8fd | p2@OR1J2 |
| 3.62e-26 | FFCP PHASE1:Hg19::chr9:110047130..110047161,+#_eba83b637837801b10931b31d5a6b954 | p9@RAD23B |
| 3.62e-26 | FFCP PHASE2:Hg19::chr9:110047130..110047161,+#_eba83b637837801b10931b31d5a6b954 | p9@RAD23B |
| 2.55e-25 | FFCP PHASE1:Hg19::chr2:238187300..238187323,-#_603f68a30ae7acba0bb8a6cebd6fe6fb | p@chr2:238187300..238187323, - |
| 2.55e-25 | FFCP PHASE2:Hg19::chr2:238187300..238187323,-#_603f68a30ae7acba0bb8a6cebd6fe6fb | p@chr2:238187300..238187323, - |
| 5.73e-25 | FFCP PHASE1:Hg19::chr19:43689230..43689259,+#_e1bef1e7bb6535ebabf94aa190d88b34 | p@chr19:43689230..43689259, + |
| 5.73e-25 | FFCP PHASE2:Hg19::chr19:43689230..43689259,+#_e1bef1e7bb6535ebabf94aa190d88b34 | p@chr19:43689230..43689259, + |
| 6.31e-25 | FFCP PHASE2:Hg19::chr7:45952643..45952654,-#_5f1105aa254ad61c1fdad81977345e3b | p22@IGFBP3 |
| 6.31e-25 | FFCP PHASE1:Hg19::chr7:45952643..45952654,-#_5f1105aa254ad61c1fdad81977345e3b | p22@IGFBP3 |
| 7.53e-25 | FFCP PHASE2:Hg19::chr5:167181899..167181909,+#_65e967842799007fa7f029d23097e11a | p14@ODZ2 |
| 7.53e-25 | FFCP PHASE1:Hg19::chr5:167181899..167181909,+#_65e967842799007fa7f029d23097e11a | p14@ODZ2 |
| 1.06e-24 | FFCP PHASE2:Hg19::chr6:75914944..75914952,-#_d205d2650a770b9d8d7f35663f392626 | p@chr6:75914944..75914952, - |
| 1.06e-24 | FFCP PHASE1:Hg19::chr6:75914944..75914952,-#_d205d2650a770b9d8d7f35663f392626 | p@chr6:75914944..75914952, - |
| 2.95e-24 | FFCP PHASE1:Hg19::chr5:167148342..167148357,+#_405e3998783126238b653463dede509b | p1@ENST00000517346 |
| 2.95e-24 | FFCP PHASE2:Hg19::chr5:167148342..167148357,+#_405e3998783126238b653463dede509b | p1@ENST00000517346 |
| 3.45e-24 | FFCP PHASE1:Hg19::chr6:75886595..75886610,-#_eb77ff7644b8e1a5a3261684808db7ad | p@chr6:75886595..75886610, - |
| 3.45e-24 | FFCP PHASE2:Hg19::chr6:75886595..75886610,-#_eb77ff7644b8e1a5a3261684808db7ad | p@chr6:75886595..75886610, - |
| 5.36e-24 | FFCP PHASE2:Hg19::chr3:58021410..58021424,+#_3a8ac3728d26a34f28dd6e49bd8fe1f2 | p@chr3:58021410..58021424, + |
| 5.36e-24 | FFCP PHASE1:Hg19::chr3:58021410..58021424,+#_3a8ac3728d26a34f28dd6e49bd8fe1f2 | p@chr3:58021410..58021424, + |
| 8.78e-24 | FFCP PHASE1:Hg19::chr12:88813132..88813143,-#_94fb37b1afd20195a31e605d62a81adf | p@chr12:88813132..88813143, - |
| 8.78e-24 | FFCP PHASE2:Hg19::chr12:88813132..88813143,-#_94fb37b1afd20195a31e605d62a81adf | p@chr12:88813132..88813143, - |
| 1.02e-23 | FFCP PHASE2:Hg19::chr1:197886561..197886569,+#_bc4ea46253ab62d1480a28d43b889310 | p10@LHX9 |
| 1.02e-23 | FFCP PHASE1:Hg19::chr1:197886561..197886569,+#_bc4ea46253ab62d1480a28d43b889310 | p10@LHX9 |
| 1.03e-23 | FFCP PHASE2:Hg19::chr7:84122019..84122030,-#_ed68fd00a36603c59d3e670d13a6c3a2 | p18@SEMA3A |
| 1.03e-23 | FFCP PHASE1:Hg19::chr7:84122019..84122030,-#_ed68fd00a36603c59d3e670d13a6c3a2 | p18@SEMA3A |
| 3.29e-23 | FFCP PHASE2:Hg19::chrX:119693827..119693835,-#_86071c6cdce292d47395da6f5ceffa3b | p24@CUL4B |
| 3.29e-23 | FFCP PHASE1:Hg19::chrX:119693827..119693835,-#_86071c6cdce292d47395da6f5ceffa3b | p24@CUL4B |
