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{{DOID
{{DOID
|id=DOID:0050427
|alt_id=
|name=xeroderma pigmentosum
|namespace=disease_ontology
|def=
|xref=MSH:D014983;;OMIM:278700;;OMIM:278720;;OMIM:278730;;OMIM:278740;;OMIM:278750;;OMIM:278760;;OMIM:278780;;OMIM:610651
|is_a=DOID:0050177
|synonym=
|comment=OMIM mapping confirmed by DO. [SN].
|comment=OMIM mapping confirmed by DO. [SN].
|alt_id=
|disjoint_from=
|union_of=
|created_by=
|created_by=
|obo_creation_date=
|def=
|subset=
|derives_from=
|derives_from=
|develops_from=
|develops_from=
|disjoint_from=
|has_quality=
|has_quality=
|id=DOID:0050427
|is_a=DOID:0050737
|is_obsolete=
|located_in=
|located_in=
|name=xeroderma pigmentosum
|namespace=disease_ontology
|obo_creation_date=
|part_of=
|part_of=
|preceded_by=
|property_value=IAO:0000412 file:/Users/cjm/Dropbox/fantom5/HumanDO.obo
|property_value=IAO:0000412 file:/Users/cjm/Dropbox/fantom5/HumanDO.obo
|is_obsolete=
|subset=
|preceded_by=
|synonym=
|union_of=
|xref=MSH:D014983;;OMIM:278700;;OMIM:278720;;OMIM:278730;;OMIM:278740;;OMIM:278750;;OMIM:278760;;OMIM:278780;;OMIM:610651
}}
}}

Revision as of 10:31, 12 September 2014

Name:xeroderma pigmentosum
Namespace:disease_ontology
Xrefs:
links:

MSH:D014983
OMIM:278700
OMIM:278720
OMIM:278730
OMIM:278740
OMIM:278750
OMIM:278760
OMIM:278780

OMIM:610651
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:0050737(autosomal recessive disease)



Children


is a:FF:10563-108A5 (xeroderma pigentosum b cell line:XPL 17),FF:10564-108A6 (),FF:10566-108A8 ()

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:0050427 (xeroderma pigmentosum), sorted by p-values <br>Analyst: Hideya Kawaji<br><br>link to source dataset <br>human : data <br>mouse : data

P-valueFFCPShort description
5.42e-195FFCP PHASE2:Hg19::chr1:152880744..152880747,+#_3ef41129557f72bbf5b7c6ad70518d0cp3@IVL
5.42e-195FFCP PHASE1:Hg19::chr1:152880744..152880747,+#_3ef41129557f72bbf5b7c6ad70518d0cp3@IVL
5.42e-195FFCP PHASE2:Hg19::chr2:25643157..25643159,+#_3ef41129557f72bbf5b7c6ad70518d0cp@chr2:25643157..25643159, +
5.42e-195FFCP PHASE1:Hg19::chr2:25643157..25643159,+#_3ef41129557f72bbf5b7c6ad70518d0cp@chr2:25643157..25643159, +
5.42e-195FFCP PHASE2:Hg19::chr1:101838740..101838743,+#_3ef41129557f72bbf5b7c6ad70518d0cp@chr1:101838740..101838743, +
5.42e-195FFCP PHASE1:Hg19::chr1:101838740..101838743,+#_3ef41129557f72bbf5b7c6ad70518d0cp@chr1:101838740..101838743, +
5.42e-195FFCP PHASE2:Hg19::chr1:101914223..101914228,-#_3ef41129557f72bbf5b7c6ad70518d0cp@chr1:101914223..101914228, -
5.42e-195FFCP PHASE1:Hg19::chr11:33676379..33676397,+#_3ef41129557f72bbf5b7c6ad70518d0cp@chr11:33676379..33676397, +
5.42e-195FFCP PHASE1:Hg19::chr1:101914223..101914228,-#_3ef41129557f72bbf5b7c6ad70518d0cp@chr1:101914223..101914228, -
5.42e-195FFCP PHASE2:Hg19::chr11:33676379..33676397,+#_3ef41129557f72bbf5b7c6ad70518d0cp@chr11:33676379..33676397, +
9.37e-99FFCP PHASE2:Hg19::chr22:23055632..23055638,+#_e115f3e0f50be7a67d842b24243b4d1dp3@DQ234400
9.37e-99FFCP PHASE1:Hg19::chr22:23055632..23055638,+#_e115f3e0f50be7a67d842b24243b4d1dp3@DQ234400
9.37e-99FFCP PHASE2:Hg19::chr4:5364767..5364769,+#_e115f3e0f50be7a67d842b24243b4d1dp@chr4:5364767..5364769, +
9.37e-99FFCP PHASE1:Hg19::chr4:5364767..5364769,+#_e115f3e0f50be7a67d842b24243b4d1dp@chr4:5364767..5364769, +
9.37e-99FFCP PHASE2:Hg19::chr18:67613122..67613129,-#_e115f3e0f50be7a67d842b24243b4d1dp@chr18:67613122..67613129, -
9.37e-99FFCP PHASE1:Hg19::chr18:67613122..67613129,-#_e115f3e0f50be7a67d842b24243b4d1dp@chr18:67613122..67613129, -
2.55e-98FFCP PHASE1:Hg19::chr13:99573473..99573481,-#_b5eecf9e89be0158dc0e1005f0daaaebp@chr13:99573473..99573481, -
2.55e-98FFCP PHASE2:Hg19::chr12:50616792..50616804,-#_b5eecf9e89be0158dc0e1005f0daaaebp29@LIMA1
2.55e-98FFCP PHASE1:Hg19::chr11:2644357..2644369,+#_b5eecf9e89be0158dc0e1005f0daaaebp@chr11:2644357..2644369, +
2.55e-98FFCP PHASE2:Hg19::chr6:166581392..166581398,+#_b5eecf9e89be0158dc0e1005f0daaaebp@chr6:166581392..166581398, +
2.55e-98FFCP PHASE1:Hg19::chr6:166581392..166581398,+#_b5eecf9e89be0158dc0e1005f0daaaebp@chr6:166581392..166581398, +
2.55e-98FFCP PHASE2:Hg19::chr11:2644357..2644369,+#_b5eecf9e89be0158dc0e1005f0daaaebp@chr11:2644357..2644369, +
2.55e-98FFCP PHASE2:Hg19::chr8:56034458..56034491,+#_b5eecf9e89be0158dc0e1005f0daaaebp@chr8:56034458..56034491, +
2.55e-98FFCP PHASE2:Hg19::chr20:56058449..56058484,+#_b5eecf9e89be0158dc0e1005f0daaaebp@chr20:56058449..56058484, +
2.55e-98FFCP PHASE1:Hg19::chr20:56058449..56058484,+#_b5eecf9e89be0158dc0e1005f0daaaebp@chr20:56058449..56058484, +
2.55e-98FFCP PHASE1:Hg19::chr12:50616792..50616804,-#_b5eecf9e89be0158dc0e1005f0daaaebp29@LIMA1
2.55e-98FFCP PHASE2:Hg19::chr20:46041421..46041448,-#_b5eecf9e89be0158dc0e1005f0daaaebp3@ENST00000437920
2.55e-98FFCP PHASE1:Hg19::chr8:56034458..56034491,+#_b5eecf9e89be0158dc0e1005f0daaaebp@chr8:56034458..56034491, +
2.55e-98FFCP PHASE1:Hg19::chr11:114997342..114997344,-#_b5eecf9e89be0158dc0e1005f0daaaebp@chr11:114997342..114997344, -
2.55e-98FFCP PHASE2:Hg19::chr6:115036814..115036827,+#_b5eecf9e89be0158dc0e1005f0daaaebp@chr6:115036814..115036827, +
2.55e-98FFCP PHASE1:Hg19::chr20:46041421..46041448,-#_b5eecf9e89be0158dc0e1005f0daaaebp3@ENST00000437920
2.55e-98FFCP PHASE1:Hg19::chr6:115036814..115036827,+#_b5eecf9e89be0158dc0e1005f0daaaebp@chr6:115036814..115036827, +
2.55e-98FFCP PHASE2:Hg19::chr13:99573473..99573481,-#_b5eecf9e89be0158dc0e1005f0daaaebp@chr13:99573473..99573481, -
2.55e-98FFCP PHASE2:Hg19::chr11:114997342..114997344,-#_b5eecf9e89be0158dc0e1005f0daaaebp@chr11:114997342..114997344, -
2.55e-98FFCP PHASE2:Hg19::chr2:889109..889122,-#_b5eecf9e89be0158dc0e1005f0daaaebp@chr2:889109..889122, -
2.55e-98FFCP PHASE1:Hg19::chr2:889109..889122,-#_b5eecf9e89be0158dc0e1005f0daaaebp@chr2:889109..889122, -
1.23e-66FFCP PHASE2:Hg19::chr7:70241758..70241770,+#_5f0e66114eae81fc8c768c66251e5958p47@AUTS2
1.23e-66FFCP PHASE1:Hg19::chr7:70241758..70241770,+#_5f0e66114eae81fc8c768c66251e5958p47@AUTS2
2.39e-66FFCP PHASE2:Hg19::chr17:76475138..76475154,-#_be3ea9bdd57cdb46c238917f058e7ac2p@chr17:76475138..76475154, -
2.39e-66FFCP PHASE1:Hg19::chr12:131201475..131201485,-#_be3ea9bdd57cdb46c238917f058e7ac2p@chr12:131201475..131201485, -
2.39e-66FFCP PHASE1:Hg19::chr17:76475138..76475154,-#_be3ea9bdd57cdb46c238917f058e7ac2p@chr17:76475138..76475154, -
2.39e-66FFCP PHASE2:Hg19::chr2:70388198..70388245,-#_be3ea9bdd57cdb46c238917f058e7ac2p@chr2:70388198..70388245, -
2.39e-66FFCP PHASE1:Hg19::chr2:70388198..70388245,-#_be3ea9bdd57cdb46c238917f058e7ac2p@chr2:70388198..70388245, -
2.39e-66FFCP PHASE2:Hg19::chr12:131201475..131201485,-#_be3ea9bdd57cdb46c238917f058e7ac2p@chr12:131201475..131201485, -
2.39e-66FFCP PHASE2:Hg19::chr1:207105167..207105184,-#_be3ea9bdd57cdb46c238917f058e7ac2p5@PIGR
2.39e-66FFCP PHASE1:Hg19::chr1:207105167..207105184,-#_be3ea9bdd57cdb46c238917f058e7ac2p5@PIGR
4.66e-66FFCP PHASE1:Hg19::chr11:109959243..109959256,+#_176345c38018b23dfa0636253f7dec7cp@chr11:109959243..109959256, +
4.66e-66FFCP PHASE1:Hg19::chr8:142117194..142117210,+#_176345c38018b23dfa0636253f7dec7cp@chr8:142117194..142117210, +
4.66e-66FFCP PHASE2:Hg19::chr11:109959243..109959256,+#_176345c38018b23dfa0636253f7dec7cp@chr11:109959243..109959256, +
4.66e-66FFCP PHASE1:Hg19::chr13:100016406..100016419,+#_176345c38018b23dfa0636253f7dec7cp@chr13:100016406..100016419, +
4.66e-66FFCP PHASE2:Hg19::chr13:100016406..100016419,+#_176345c38018b23dfa0636253f7dec7cp@chr13:100016406..100016419, +
4.66e-66FFCP PHASE2:Hg19::chr8:142117194..142117210,+#_176345c38018b23dfa0636253f7dec7cp@chr8:142117194..142117210, +
1.46e-50FFCP PHASE2:Hg19::chr22:39843128..39843135,+#_56a76022578976a9e6f0e7cd50778726p@chr22:39843128..39843135, +
1.46e-50FFCP PHASE1:Hg19::chr22:39843128..39843135,+#_56a76022578976a9e6f0e7cd50778726p@chr22:39843128..39843135, +
1.46e-50FFCP PHASE1:Hg19::chr14:75802635..75802649,+#_56a76022578976a9e6f0e7cd50778726p@chr14:75802635..75802649, +
1.46e-50FFCP PHASE2:Hg19::chr14:75802635..75802649,+#_56a76022578976a9e6f0e7cd50778726p@chr14:75802635..75802649, +
1.46e-50FFCP PHASE2:Hg19::chr18:56203145..56203154,+#_56a76022578976a9e6f0e7cd50778726p@chr18:56203145..56203154, +
1.46e-50FFCP PHASE1:Hg19::chr18:56203145..56203154,+#_56a76022578976a9e6f0e7cd50778726p@chr18:56203145..56203154, +
2.42e-50FFCP PHASE2:Hg19::chr8:6594766..6594776,+#_0659e3e0d26e545e6d8037c46083c880p@chr8:6594766..6594776, +
2.42e-50FFCP PHASE2:Hg19::chr6:115036832..115036842,+#_0659e3e0d26e545e6d8037c46083c880p@chr6:115036832..115036842, +
2.42e-50FFCP PHASE2:Hg19::chr1:207105188..207105210,-#_0659e3e0d26e545e6d8037c46083c880p3@PIGR
2.42e-50FFCP PHASE1:Hg19::chr6:115036832..115036842,+#_0659e3e0d26e545e6d8037c46083c880p@chr6:115036832..115036842, +
2.42e-50FFCP PHASE1:Hg19::chrX:11786454..11786465,+#_0659e3e0d26e545e6d8037c46083c880p25@MSL3
2.42e-50FFCP PHASE2:Hg19::chr8:135577784..135577795,-#_0659e3e0d26e545e6d8037c46083c880p15@ZFAT
2.42e-50FFCP PHASE1:Hg19::chr9:79057008..79057019,+#_0659e3e0d26e545e6d8037c46083c880p5@GCNT1
2.42e-50FFCP PHASE1:Hg19::chr1:207105188..207105210,-#_0659e3e0d26e545e6d8037c46083c880p3@PIGR
2.42e-50FFCP PHASE2:Hg19::chr14:25495787..25495796,-#_0659e3e0d26e545e6d8037c46083c880p@chr14:25495787..25495796, -
2.42e-50FFCP PHASE2:Hg19::chr2:160779191..160779202,-#_0659e3e0d26e545e6d8037c46083c880p@chr2:160779191..160779202, -
2.42e-50FFCP PHASE1:Hg19::chr2:160779191..160779202,-#_0659e3e0d26e545e6d8037c46083c880p@chr2:160779191..160779202, -
2.42e-50FFCP PHASE1:Hg19::chr14:25495787..25495796,-#_0659e3e0d26e545e6d8037c46083c880p@chr14:25495787..25495796, -
2.42e-50FFCP PHASE1:Hg19::chr8:6594766..6594776,+#_0659e3e0d26e545e6d8037c46083c880p@chr8:6594766..6594776, +
2.42e-50FFCP PHASE1:Hg19::chr8:135577784..135577795,-#_0659e3e0d26e545e6d8037c46083c880p15@ZFAT
2.42e-50FFCP PHASE1:Hg19::chr15:59665311..59665320,-#_0659e3e0d26e545e6d8037c46083c880p6@MYO1E
2.42e-50FFCP PHASE2:Hg19::chr9:35650561..35650570,-#_0659e3e0d26e545e6d8037c46083c880p3@SIT1
2.42e-50FFCP PHASE2:Hg19::chr15:59665311..59665320,-#_0659e3e0d26e545e6d8037c46083c880p6@MYO1E
2.42e-50FFCP PHASE2:Hg19::chrX:11786454..11786465,+#_0659e3e0d26e545e6d8037c46083c880p25@MSL3
2.42e-50FFCP PHASE2:Hg19::chr9:79057008..79057019,+#_0659e3e0d26e545e6d8037c46083c880p5@GCNT1
2.42e-50FFCP PHASE2:Hg19::chr3:178791955..178791978,-#_0659e3e0d26e545e6d8037c46083c880p@chr3:178791955..178791978, -
2.42e-50FFCP PHASE2:Hg19::chr1:98642709..98642713,-#_0659e3e0d26e545e6d8037c46083c880p@chr1:98642709..98642713, -
2.42e-50FFCP PHASE1:Hg19::chr3:178791955..178791978,-#_0659e3e0d26e545e6d8037c46083c880p@chr3:178791955..178791978, -
2.42e-50FFCP PHASE1:Hg19::chr1:98642709..98642713,-#_0659e3e0d26e545e6d8037c46083c880p@chr1:98642709..98642713, -
2.42e-50FFCP PHASE1:Hg19::chr9:35650561..35650570,-#_0659e3e0d26e545e6d8037c46083c880p3@SIT1
3.99e-50FFCP PHASE1:Hg19::chr15:90546643..90546659,+#_3cff97898d10a97a6bba48847d670e22p@chr15:90546643..90546659, +
3.99e-50FFCP PHASE2:Hg19::chr15:90546643..90546659,+#_3cff97898d10a97a6bba48847d670e22p@chr15:90546643..90546659, +
3.99e-50FFCP PHASE1:Hg19::chr9:87316933..87316943,+#_3cff97898d10a97a6bba48847d670e22p@chr9:87316933..87316943, +
3.99e-50FFCP PHASE2:Hg19::chr17:79213963..79213968,+#_3cff97898d10a97a6bba48847d670e22p@chr17:79213963..79213968, +
3.99e-50FFCP PHASE1:Hg19::chr15:79310342..79310352,-#_3cff97898d10a97a6bba48847d670e22p17@RASGRF1
3.99e-50FFCP PHASE2:Hg19::chr15:79310342..79310352,-#_3cff97898d10a97a6bba48847d670e22p17@RASGRF1
3.99e-50FFCP PHASE1:Hg19::chr16:9934872..9934888,-#_3cff97898d10a97a6bba48847d670e22p@chr16:9934872..9934888, -
3.99e-50FFCP PHASE2:Hg19::chr16:9934872..9934888,-#_3cff97898d10a97a6bba48847d670e22p@chr16:9934872..9934888, -
3.99e-50FFCP PHASE1:Hg19::chr11:109958732..109958742,-#_3cff97898d10a97a6bba48847d670e22p@chr11:109958732..109958742, -
3.99e-50FFCP PHASE1:Hg19::chr17:79213963..79213968,+#_3cff97898d10a97a6bba48847d670e22p@chr17:79213963..79213968, +
3.99e-50FFCP PHASE2:Hg19::chr11:109958732..109958742,-#_3cff97898d10a97a6bba48847d670e22p@chr11:109958732..109958742, -
3.99e-50FFCP PHASE2:Hg19::chr9:87316933..87316943,+#_3cff97898d10a97a6bba48847d670e22p@chr9:87316933..87316943, +
6.58e-50FFCP PHASE2:Hg19::chr2:42180940..42180951,-#_bcde5b1086d754777285b9a943f9977fp1@LOC400950
6.58e-50FFCP PHASE1:Hg19::chr16:14700008..14700028,-#_bcde5b1086d754777285b9a943f9977fp@chr16:14700008..14700028, -
6.58e-50FFCP PHASE2:Hg19::chr16:14700008..14700028,-#_bcde5b1086d754777285b9a943f9977fp@chr16:14700008..14700028, -
6.58e-50FFCP PHASE1:Hg19::chr2:42180940..42180951,-#_bcde5b1086d754777285b9a943f9977fp1@LOC400950
6.58e-50FFCP PHASE1:Hg19::chr16:14700034..14700044,-#_bcde5b1086d754777285b9a943f9977fp@chr16:14700034..14700044, -
6.58e-50FFCP PHASE2:Hg19::chr16:14700034..14700044,-#_bcde5b1086d754777285b9a943f9977fp@chr16:14700034..14700044, -

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