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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
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:66(muscle tissue disease)



Children


is a:DOID:450 (myotonic disease)


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:423 (myopathy), sorted by p-values
Analyst: Hideya Kawaji

link to source dataset
human : data
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 PHASE1:Hg19::chr13:24044226..24044237,+#_9765dcd629182c684e28a638a82c0898p1@LINC00327
6.23e-66FFCP PHASE2: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 PHASE2:Hg19::chr15:33180622..33180633,-#_a92e979a5b29c2ce8fa9704b4802028bp13@FMN1
3.24e-51FFCP PHASE1:Hg19::chr15:33180622..33180633,-#_a92e979a5b29c2ce8fa9704b4802028bp13@FMN1
8.65e-49FFCP PHASE1:Hg19::chr1:198636401..198636419,-#_0b934cd73dfb72645969f5adcf722534p3@ENST00000413577
8.65e-49FFCP PHASE2:Hg19::chr13:24044200..24044211,+#_0b934cd73dfb72645969f5adcf722534p2@LINC00327
8.65e-49FFCP PHASE2:Hg19::chr1:198636401..198636419,-#_0b934cd73dfb72645969f5adcf722534p3@ENST00000413577
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 PHASE1:Hg19::chr22:48819856..48819861,+#_9e9b530e4bda0a1968ff5ff4d9bb9a03p@chr22:48819856..48819861, +
3.84e-42FFCP PHASE2: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 PHASE1:Hg19::chr2:100323985..100323997,-#_8298953c1df69e7b0acac28d24e5c682p@chr2:100323985..100323997, -
2.71e-40FFCP PHASE2: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 PHASE1:Hg19::chr15:33180498..33180522,-#_5a517b7bc90ec98d0a74c76bcb0f0c43p4@FMN1
2.05e-39FFCP PHASE2:Hg19::chr15:33180498..33180522,-#_5a517b7bc90ec98d0a74c76bcb0f0c43p4@FMN1
7.88e-38FFCP PHASE1:Hg19::chrX:3102846..3102872,+#_14b8e8fa5c116a09c0e547c69a626290p@chrX:3102846..3102872, +
7.88e-38FFCP PHASE2: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 PHASE1:Hg19::chr14:32963433..32963487,+#_a8977303495dc7e2154508b0ed626544p4@AKAP6
9.31e-33FFCP PHASE2: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 PHASE1:Hg19::chr20:52570906..52570909,-#_e2a70bb07534fd479f6803178b7a7a67p@chr20:52570906..52570909, -
1.7e-32FFCP PHASE2:Hg19::chr20:52570906..52570909,-#_e2a70bb07534fd479f6803178b7a7a67p@chr20:52570906..52570909, -
1.23e-30FFCP PHASE2:Hg19::chr1:197886665..197886732,+#_868b6adae1428adaab43062467380324p3@LHX9
1.23e-30FFCP PHASE1:Hg19::chr1:197886665..197886732,+#_868b6adae1428adaab43062467380324p3@LHX9
1.42e-30FFCP PHASE1:Hg19::chr15:33180558..33180570,-#_7f91e8089dbb3748171d136e8d8533b8p9@FMN1
1.42e-30FFCP PHASE2: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,+#_96e8f8628675a222348dda40c2fc4972+, p@chr2:239778648..239778664
7.23e-30FFCP PHASE2:Hg19::chr15:39880996..39881011,+#_eb6cc342c31c12b0b228a4f58af0c809p41@THBS1
7.23e-30FFCP PHASE1: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 PHASE1:Hg19::chr6:113697548..113697566,-#_f5260f23a415dc16dcf379b6d3282fd8p@chr6:113697548..113697566, -
2.45e-28FFCP PHASE2: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,+#_b5b59e1e54c322ba56636adbcd825828+, p@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 PHASE2:Hg19::chr12:91539677..91539688,-#_5bbd6bfa93dc348311be18336a34ccfep@chr12:91539677..91539688, -
3.55e-27FFCP PHASE1: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 PHASE1:Hg19::chr9:110047130..110047161,+#_5c9708d9e35b478968b68c4990377356p9@RAD23B
3.62e-26FFCP PHASE2:Hg19::chr9:110047130..110047161,+#_5c9708d9e35b478968b68c4990377356p9@RAD23B
2.55e-25FFCP PHASE1:Hg19::chr2:238187300..238187323,-#_604bd4d3cc4ee0bca84192bdb96558efp@chr2:238187300..238187323, -
2.55e-25FFCP PHASE2:Hg19::chr2:238187300..238187323,-#_604bd4d3cc4ee0bca84192bdb96558efp@chr2:238187300..238187323, -
5.73e-25FFCP PHASE2:Hg19::chr19:43689230..43689259,+#_82cfaf0355f9e432a9e1177d66ef14d6p@chr19:43689230..43689259, +
5.73e-25FFCP PHASE1: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 PHASE1:Hg19::chr5:167181899..167181909,+#_34fd349033ff10bbf20ee044bf30992ap14@ODZ2
7.53e-25FFCP PHASE2: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 PHASE2:Hg19::chr5:167148342..167148357,+#_b26bfdf5a1e84a2fc95b7f683a225997p1@ENST00000517346
2.95e-24FFCP PHASE1: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 PHASE1:Hg19::chr12:88813132..88813143,-#_b8dee6fc2606f698e16cc868563f5397p@chr12:88813132..88813143, -
8.78e-24FFCP PHASE2: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