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DOID:423

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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:
links:

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


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)

Mouse (Mus musculus)

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


P-valueFFCPShort description
1.5e-156FFCP PHASE2:Hg19::chr15:33180439..33180446,-#_d545d920a9e2d9a23e9b35fc8c5bde48p@chr15:33180439..33180446, -
1.5e-156FFCP PHASE1:Hg19::chr15:33180439..33180446,-#_d545d920a9e2d9a23e9b35fc8c5bde48p@chr15:33180439..33180446, -
6.23e-66FFCP PHASE2:Hg19::chr13:24044226..24044237,+#_9765dcd629182c684e28a638a82c0898p1@LINC00327
6.23e-66FFCP PHASE1:Hg19::chr13:24044226..24044237,+#_9765dcd629182c684e28a638a82c0898p1@LINC00327
3.99e-52FFCP PHASE2:Hg19::chr4:184271970..184271992,-#_cf171b2eea85d9d02e07231ab5ecbb55p@chr4:184271970..184271992, -
3.99e-52FFCP PHASE1:Hg19::chr4:184271970..184271992,-#_cf171b2eea85d9d02e07231ab5ecbb55p@chr4:184271970..184271992, -
3.24e-51FFCP PHASE1:Hg19::chr15:33180622..33180633,-#_a92e979a5b29c2ce8fa9704b4802028bp13@FMN1
3.24e-51FFCP PHASE2:Hg19::chr15:33180622..33180633,-#_a92e979a5b29c2ce8fa9704b4802028bp13@FMN1
8.65e-49FFCP PHASE2:Hg19::chr1:198636401..198636419,-#_0b934cd73dfb72645969f5adcf722534p3@ENST00000413577
8.65e-49FFCP PHASE1:Hg19::chr1:198636401..198636419,-#_0b934cd73dfb72645969f5adcf722534p3@ENST00000413577
8.65e-49FFCP PHASE2:Hg19::chr13:24044200..24044211,+#_0b934cd73dfb72645969f5adcf722534p2@LINC00327
8.65e-49FFCP PHASE1:Hg19::chr13:24044200..24044211,+#_0b934cd73dfb72645969f5adcf722534p2@LINC00327
8.92e-46FFCP PHASE2:Hg19::chr1:197886646..197886657,+#_3a77146a749d98bdd52a2536421dede6p5@LHX9
8.92e-46FFCP PHASE1:Hg19::chr1:197886646..197886657,+#_3a77146a749d98bdd52a2536421dede6p5@LHX9
3.84e-42FFCP PHASE2:Hg19::chr22:48819856..48819861,+#_9e9b530e4bda0a1968ff5ff4d9bb9a03p@chr22:48819856..48819861, +
3.84e-42FFCP PHASE1:Hg19::chr22:48819856..48819861,+#_9e9b530e4bda0a1968ff5ff4d9bb9a03p@chr22:48819856..48819861, +
1.48e-40FFCP PHASE2:Hg19::chr1:55505693..55505698,+#_d805b7d60280f663f61f573ed4c25ec5p7@PCSK9
1.48e-40FFCP PHASE1:Hg19::chr1:55505693..55505698,+#_d805b7d60280f663f61f573ed4c25ec5p7@PCSK9
2.71e-40FFCP PHASE2:Hg19::chr2:100323985..100323997,-#_8298953c1df69e7b0acac28d24e5c682p@chr2:100323985..100323997, -
2.71e-40FFCP PHASE1:Hg19::chr2:100323985..100323997,-#_8298953c1df69e7b0acac28d24e5c682p@chr2:100323985..100323997, -
5.85e-40FFCP PHASE2:Hg19::chr15:39571769..39571781,-#_5d15eaf6cab31f7e59576253d77d527ep@chr15:39571769..39571781, -
5.85e-40FFCP PHASE1:Hg19::chr15:39571769..39571781,-#_5d15eaf6cab31f7e59576253d77d527ep@chr15:39571769..39571781, -
2.05e-39FFCP PHASE2:Hg19::chr15:33180498..33180522,-#_5a517b7bc90ec98d0a74c76bcb0f0c43p4@FMN1
2.05e-39FFCP PHASE1:Hg19::chr15:33180498..33180522,-#_5a517b7bc90ec98d0a74c76bcb0f0c43p4@FMN1
7.88e-38FFCP PHASE2:Hg19::chrX:3102846..3102872,+#_14b8e8fa5c116a09c0e547c69a626290p@chrX:3102846..3102872, +
7.88e-38FFCP PHASE1:Hg19::chrX:3102846..3102872,+#_14b8e8fa5c116a09c0e547c69a626290p@chrX:3102846..3102872, +
8.51e-37FFCP PHASE1:Hg19::chr1:198636258..198636278,-#_4bb3cdc53e2aa6fdb49725aa9d7d1943p1@ENST00000413577
8.51e-37FFCP PHASE2:Hg19::chr1:198636258..198636278,-#_4bb3cdc53e2aa6fdb49725aa9d7d1943p1@ENST00000413577
2.0e-36FFCP PHASE2:Hg19::chr2:100323966..100323983,-#_3c27dd87a7547e42751c9fb593c36068p@chr2:100323966..100323983, -
2.0e-36FFCP PHASE1:Hg19::chr2:100323966..100323983,-#_3c27dd87a7547e42751c9fb593c36068p@chr2:100323966..100323983, -
1.82e-34FFCP PHASE2:Hg19::chr1:197886421..197886432,+#_8a8c2b9205f89fa28260833e549672cep2@LHX9
1.82e-34FFCP PHASE1:Hg19::chr1:197886421..197886432,+#_8a8c2b9205f89fa28260833e549672cep2@LHX9
3.86e-33FFCP PHASE2:Hg19::chr1:197889151..197889159,+#_e891a769f1300e48724a98945dcc3234p@chr1:197889151..197889159, +
3.86e-33FFCP PHASE1:Hg19::chr1:197889151..197889159,+#_e891a769f1300e48724a98945dcc3234p@chr1:197889151..197889159, +
4.23e-33FFCP PHASE2:Hg19::chr5:167181769..167181798,+#_5b63d0d5e5614576361508e0dad1e54ap17@ODZ2
4.23e-33FFCP PHASE1:Hg19::chr5:167181769..167181798,+#_5b63d0d5e5614576361508e0dad1e54ap17@ODZ2
4.31e-33FFCP PHASE2:Hg19::chr1:197886772..197886790,+#_77927e23d0b063ab059ad8dfd29f81d3p4@LHX9
4.31e-33FFCP PHASE1:Hg19::chr1:197886772..197886790,+#_77927e23d0b063ab059ad8dfd29f81d3p4@LHX9
6.67e-33FFCP PHASE2:Hg19::chr1:197886617..197886628,+#_5d4f31294fcff288d5dbaea77946a52bp8@LHX9
6.67e-33FFCP PHASE1:Hg19::chr1:197886617..197886628,+#_5d4f31294fcff288d5dbaea77946a52bp8@LHX9
9.31e-33FFCP PHASE2:Hg19::chr14:32963433..32963487,+#_a8977303495dc7e2154508b0ed626544p4@AKAP6
9.31e-33FFCP PHASE1:Hg19::chr14:32963433..32963487,+#_a8977303495dc7e2154508b0ed626544p4@AKAP6
9.4e-33FFCP PHASE2:Hg19::chr8:23564380..23564391,+#_c00bd29a2c576a5a0c91260fdf0acc59p1@ENST00000523874
9.4e-33FFCP PHASE1:Hg19::chr8:23564380..23564391,+#_c00bd29a2c576a5a0c91260fdf0acc59p1@ENST00000523874
1.7e-32FFCP PHASE2:Hg19::chr20:52570906..52570909,-#_e2a70bb07534fd479f6803178b7a7a67p@chr20:52570906..52570909, -
1.7e-32FFCP PHASE1:Hg19::chr20:52570906..52570909,-#_e2a70bb07534fd479f6803178b7a7a67p@chr20:52570906..52570909, -
1.23e-30FFCP PHASE1:Hg19::chr1:197886665..197886732,+#_868b6adae1428adaab43062467380324p3@LHX9
1.23e-30FFCP PHASE2:Hg19::chr1:197886665..197886732,+#_868b6adae1428adaab43062467380324p3@LHX9
1.42e-30FFCP PHASE2:Hg19::chr15:33180558..33180570,-#_7f91e8089dbb3748171d136e8d8533b8p9@FMN1
1.42e-30FFCP PHASE1:Hg19::chr15:33180558..33180570,-#_7f91e8089dbb3748171d136e8d8533b8p9@FMN1
6.36e-30FFCP PHASE2:Hg19::chr2:239778648..239778664,+#_96e8f8628675a222348dda40c2fc4972p@chr2:239778648..239778664, +
6.36e-30FFCP PHASE1:Hg19::chr2:239778648..239778664,+#_96e8f8628675a222348dda40c2fc4972p@chr2:239778648..239778664, +
7.23e-30FFCP PHASE1:Hg19::chr15:39880996..39881011,+#_eb6cc342c31c12b0b228a4f58af0c809p41@THBS1
7.23e-30FFCP PHASE2:Hg19::chr15:39880996..39881011,+#_eb6cc342c31c12b0b228a4f58af0c809p41@THBS1
3.13e-29FFCP PHASE2:Hg19::chr2:158114405..158114413,+#_66daf2f40a0b3d2ed8acf48a17466c5dp11@GALNT5
3.13e-29FFCP PHASE1:Hg19::chr2:158114405..158114413,+#_66daf2f40a0b3d2ed8acf48a17466c5dp11@GALNT5
6.34e-29FFCP PHASE2:Hg19::chr12:114845970..114846000,+#_4bd7f6824457450c082af58cc24a74aap1@LOC255480
6.34e-29FFCP PHASE1:Hg19::chr12:114845970..114846000,+#_4bd7f6824457450c082af58cc24a74aap1@LOC255480
2.45e-28FFCP PHASE2:Hg19::chr6:113697548..113697566,-#_f5260f23a415dc16dcf379b6d3282fd8p@chr6:113697548..113697566, -
2.45e-28FFCP PHASE1:Hg19::chr6:113697548..113697566,-#_f5260f23a415dc16dcf379b6d3282fd8p@chr6:113697548..113697566, -
6.02e-28FFCP PHASE2:Hg19::chr15:39593792..39593816,-#_4b27307e297fef12e16f5ec5ce1e7db2p@chr15:39593792..39593816, -
6.02e-28FFCP PHASE1:Hg19::chr15:39593792..39593816,-#_4b27307e297fef12e16f5ec5ce1e7db2p@chr15:39593792..39593816, -
2.04e-27FFCP PHASE2:Hg19::chr12:10084960..10084974,-#_5ac37be7351883954b08cf60eed72364p1@CLEC2A
2.04e-27FFCP PHASE1:Hg19::chr12:10084960..10084974,-#_5ac37be7351883954b08cf60eed72364p1@CLEC2A
2.08e-27FFCP PHASE2:Hg19::chr7:131195751..131195762,+#_b5b59e1e54c322ba56636adbcd825828p@chr7:131195751..131195762, +
2.08e-27FFCP PHASE1:Hg19::chr7:131195751..131195762,+#_b5b59e1e54c322ba56636adbcd825828p@chr7:131195751..131195762, +
2.72e-27FFCP PHASE2:Hg19::chr10:129815627..129815630,+#_6f860e221b673194ee8e69685cf45f3ep@chr10:129815627..129815630, +
2.72e-27FFCP PHASE1:Hg19::chr10:129815627..129815630,+#_6f860e221b673194ee8e69685cf45f3ep@chr10:129815627..129815630, +
3.55e-27FFCP PHASE1:Hg19::chr12:91539677..91539688,-#_5bbd6bfa93dc348311be18336a34ccfep@chr12:91539677..91539688, -
3.55e-27FFCP PHASE2:Hg19::chr12:91539677..91539688,-#_5bbd6bfa93dc348311be18336a34ccfep@chr12:91539677..91539688, -
6.88e-27FFCP PHASE2:Hg19::chr8:23564065..23564087,-#_0e1918df104d6a7e8cf6db36bfa4da00p1@NKX2-6
6.88e-27FFCP PHASE1:Hg19::chr8:23564065..23564087,-#_0e1918df104d6a7e8cf6db36bfa4da00p1@NKX2-6
1.64e-26FFCP PHASE2:Hg19::chr9:125231389..125231402,+#_fab9b48df74122f5f7a27b0d07b687ebp2@OR1J2
1.64e-26FFCP PHASE1:Hg19::chr9:125231389..125231402,+#_fab9b48df74122f5f7a27b0d07b687ebp2@OR1J2
3.62e-26FFCP PHASE2:Hg19::chr9:110047130..110047161,+#_5c9708d9e35b478968b68c4990377356p9@RAD23B
3.62e-26FFCP PHASE1:Hg19::chr9:110047130..110047161,+#_5c9708d9e35b478968b68c4990377356p9@RAD23B
2.55e-25FFCP PHASE2:Hg19::chr2:238187300..238187323,-#_604bd4d3cc4ee0bca84192bdb96558efp@chr2:238187300..238187323, -
2.55e-25FFCP PHASE1:Hg19::chr2:238187300..238187323,-#_604bd4d3cc4ee0bca84192bdb96558efp@chr2:238187300..238187323, -
5.73e-25FFCP PHASE1:Hg19::chr19:43689230..43689259,+#_82cfaf0355f9e432a9e1177d66ef14d6p@chr19:43689230..43689259, +
5.73e-25FFCP PHASE2:Hg19::chr19:43689230..43689259,+#_82cfaf0355f9e432a9e1177d66ef14d6p@chr19:43689230..43689259, +
6.31e-25FFCP PHASE2:Hg19::chr7:45952643..45952654,-#_cc483588a6d8155ef6d3e30b309b60d8p22@IGFBP3
6.31e-25FFCP PHASE1:Hg19::chr7:45952643..45952654,-#_cc483588a6d8155ef6d3e30b309b60d8p22@IGFBP3
7.53e-25FFCP PHASE2:Hg19::chr5:167181899..167181909,+#_34fd349033ff10bbf20ee044bf30992ap14@ODZ2
7.53e-25FFCP PHASE1:Hg19::chr5:167181899..167181909,+#_34fd349033ff10bbf20ee044bf30992ap14@ODZ2
1.06e-24FFCP PHASE2:Hg19::chr6:75914944..75914952,-#_fc4c7b0277b075409173677e3af431dcp@chr6:75914944..75914952, -
1.06e-24FFCP PHASE1:Hg19::chr6:75914944..75914952,-#_fc4c7b0277b075409173677e3af431dcp@chr6:75914944..75914952, -
2.95e-24FFCP PHASE1:Hg19::chr5:167148342..167148357,+#_b26bfdf5a1e84a2fc95b7f683a225997p1@ENST00000517346
2.95e-24FFCP PHASE2:Hg19::chr5:167148342..167148357,+#_b26bfdf5a1e84a2fc95b7f683a225997p1@ENST00000517346
3.45e-24FFCP PHASE2:Hg19::chr6:75886595..75886610,-#_495f350e07cc1c7054e3ddd891afae80p@chr6:75886595..75886610, -
3.45e-24FFCP PHASE1:Hg19::chr6:75886595..75886610,-#_495f350e07cc1c7054e3ddd891afae80p@chr6:75886595..75886610, -
5.36e-24FFCP PHASE2:Hg19::chr3:58021410..58021424,+#_949c56f57effe88d37fc39dcb28aefbbp@chr3:58021410..58021424, +
5.36e-24FFCP PHASE1:Hg19::chr3:58021410..58021424,+#_949c56f57effe88d37fc39dcb28aefbbp@chr3:58021410..58021424, +
8.78e-24FFCP PHASE2:Hg19::chr12:88813132..88813143,-#_b8dee6fc2606f698e16cc868563f5397p@chr12:88813132..88813143, -
8.78e-24FFCP PHASE1:Hg19::chr12:88813132..88813143,-#_b8dee6fc2606f698e16cc868563f5397p@chr12:88813132..88813143, -
1.02e-23FFCP PHASE2:Hg19::chr1:197886561..197886569,+#_0ede7fddab48d4e75f7ad2cbd10e4ea6p10@LHX9
1.02e-23FFCP PHASE1:Hg19::chr1:197886561..197886569,+#_0ede7fddab48d4e75f7ad2cbd10e4ea6p10@LHX9
1.03e-23FFCP PHASE2:Hg19::chr7:84122019..84122030,-#_55ba464c1e01eac3fce399f19edf596bp18@SEMA3A
1.03e-23FFCP PHASE1:Hg19::chr7:84122019..84122030,-#_55ba464c1e01eac3fce399f19edf596bp18@SEMA3A
3.29e-23FFCP PHASE2:Hg19::chrX:119693827..119693835,-#_ea8ea449bcf4a23ca6ab6bd46fba85a2p24@CUL4B
3.29e-23FFCP PHASE1:Hg19::chrX:119693827..119693835,-#_ea8ea449bcf4a23ca6ab6bd46fba85a2p24@CUL4B