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DOID:630

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Name:genetic disease
Namespace:disease_ontology
Definition:"A disease that has_material_basis_in genetic variations in the human genome." [url:http://ghr.nlm.nih.gov/]
Xrefs:
links:

MSH:D030342
NCI:C3101
SNOMEDCT_2010_1_31:264530000
SNOMEDCT_2010_1_31:32895009

UMLS_CUI:C0019247

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:4(disease)



Children


is a:DOID:0050177 (monogenic disease),DOID:0080014 (chromosomal disease)

Ontology Tree: Loaded from BioPortal

Ontorolgy tree(Small window open)

FF samples

Human (Homo sapiens)

... further results Mouse (Mus musculus)

... further results

Enrichment analysis: top 100 FFCP enriched with this ontology termTOP 100 FANTOM5 Cage Peaks enriched with DOID:630 (genetic disease), 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 PHASE1:Hg19::chr2:25643157..25643159,+#_549ffc46e0eb8e1cbc9ccbad31d804cbp@chr2:25643157..25643159, +
5.42e-195FFCP PHASE2:Hg19::chr1:101838740..101838743,+#_549ffc46e0eb8e1cbc9ccbad31d804cbp@chr1:101838740..101838743, +
5.42e-195FFCP PHASE1:Hg19::chr1:101838740..101838743,+#_549ffc46e0eb8e1cbc9ccbad31d804cbp@chr1:101838740..101838743, +
5.42e-195FFCP PHASE2:Hg19::chr1:101914223..101914228,-#_549ffc46e0eb8e1cbc9ccbad31d804cbp@chr1:101914223..101914228, -
5.42e-195FFCP PHASE1:Hg19::chr1:101914223..101914228,-#_549ffc46e0eb8e1cbc9ccbad31d804cbp@chr1:101914223..101914228, -
5.42e-195FFCP PHASE1:Hg19::chr11:33676379..33676397,+#_549ffc46e0eb8e1cbc9ccbad31d804cbp@chr11:33676379..33676397, +
5.42e-195FFCP PHASE2:Hg19::chr11:33676379..33676397,+#_549ffc46e0eb8e1cbc9ccbad31d804cbp@chr11:33676379..33676397, +
5.42e-195FFCP PHASE2:Hg19::chr1:152880744..152880747,+#_549ffc46e0eb8e1cbc9ccbad31d804cbp3@IVL
5.42e-195FFCP PHASE1:Hg19::chr1:152880744..152880747,+#_549ffc46e0eb8e1cbc9ccbad31d804cbp3@IVL
5.42e-195FFCP PHASE2:Hg19::chr2:25643157..25643159,+#_549ffc46e0eb8e1cbc9ccbad31d804cbp@chr2:25643157..25643159, +
9.37e-99FFCP PHASE2:Hg19::chr22:23055632..23055638,+#_47cf86de723fcc37475a0e219a4ddef7p3@DQ234400
9.37e-99FFCP PHASE1:Hg19::chr22:23055632..23055638,+#_47cf86de723fcc37475a0e219a4ddef7p3@DQ234400
9.37e-99FFCP PHASE2:Hg19::chr4:5364767..5364769,+#_47cf86de723fcc37475a0e219a4ddef7p@chr4:5364767..5364769, +
9.37e-99FFCP PHASE1:Hg19::chr4:5364767..5364769,+#_47cf86de723fcc37475a0e219a4ddef7p@chr4:5364767..5364769, +
9.37e-99FFCP PHASE2:Hg19::chr18:67613122..67613129,-#_47cf86de723fcc37475a0e219a4ddef7p@chr18:67613122..67613129, -
9.37e-99FFCP PHASE1:Hg19::chr18:67613122..67613129,-#_47cf86de723fcc37475a0e219a4ddef7p@chr18:67613122..67613129, -
2.55e-98FFCP PHASE2:Hg19::chr20:56058449..56058484,+#_33f3eb41adbff553e1051e8b48232418p@chr20:56058449..56058484, +
2.55e-98FFCP PHASE1:Hg19::chr20:56058449..56058484,+#_33f3eb41adbff553e1051e8b48232418p@chr20:56058449..56058484, +
2.55e-98FFCP PHASE2:Hg19::chr8:56034458..56034491,+#_33f3eb41adbff553e1051e8b48232418p@chr8:56034458..56034491, +
2.55e-98FFCP PHASE2:Hg19::chr20:46041421..46041448,-#_33f3eb41adbff553e1051e8b48232418p3@ENST00000437920
2.55e-98FFCP PHASE1:Hg19::chr12:50616792..50616804,-#_33f3eb41adbff553e1051e8b48232418p29@LIMA1
2.55e-98FFCP PHASE1:Hg19::chr8:56034458..56034491,+#_33f3eb41adbff553e1051e8b48232418p@chr8:56034458..56034491, +
2.55e-98FFCP PHASE2:Hg19::chr6:115036814..115036827,+#_33f3eb41adbff553e1051e8b48232418p@chr6:115036814..115036827, +
2.55e-98FFCP PHASE1:Hg19::chr20:46041421..46041448,-#_33f3eb41adbff553e1051e8b48232418p3@ENST00000437920
2.55e-98FFCP PHASE1:Hg19::chr6:115036814..115036827,+#_33f3eb41adbff553e1051e8b48232418p@chr6:115036814..115036827, +
2.55e-98FFCP PHASE1:Hg19::chr11:114997342..114997344,-#_33f3eb41adbff553e1051e8b48232418p@chr11:114997342..114997344, -
2.55e-98FFCP PHASE2:Hg19::chr13:99573473..99573481,-#_33f3eb41adbff553e1051e8b48232418p@chr13:99573473..99573481, -
2.55e-98FFCP PHASE2:Hg19::chr11:114997342..114997344,-#_33f3eb41adbff553e1051e8b48232418p@chr11:114997342..114997344, -
2.55e-98FFCP PHASE2:Hg19::chr2:889109..889122,-#_33f3eb41adbff553e1051e8b48232418p@chr2:889109..889122, -
2.55e-98FFCP PHASE1:Hg19::chr2:889109..889122,-#_33f3eb41adbff553e1051e8b48232418p@chr2:889109..889122, -
2.55e-98FFCP PHASE1:Hg19::chr13:99573473..99573481,-#_33f3eb41adbff553e1051e8b48232418p@chr13:99573473..99573481, -
2.55e-98FFCP PHASE2:Hg19::chr12:50616792..50616804,-#_33f3eb41adbff553e1051e8b48232418p29@LIMA1
2.55e-98FFCP PHASE2:Hg19::chr6:166581392..166581398,+#_33f3eb41adbff553e1051e8b48232418p@chr6:166581392..166581398, +
2.55e-98FFCP PHASE1:Hg19::chr6:166581392..166581398,+#_33f3eb41adbff553e1051e8b48232418p@chr6:166581392..166581398, +
2.55e-98FFCP PHASE1:Hg19::chr11:2644357..2644369,+#_33f3eb41adbff553e1051e8b48232418p@chr11:2644357..2644369, +
2.55e-98FFCP PHASE2:Hg19::chr11:2644357..2644369,+#_33f3eb41adbff553e1051e8b48232418p@chr11:2644357..2644369, +
1.23e-66FFCP PHASE1:Hg19::chr7:70241758..70241770,+#_29a34db624253f6f07beaa40176d86a6p47@AUTS2
1.23e-66FFCP PHASE2:Hg19::chr7:70241758..70241770,+#_29a34db624253f6f07beaa40176d86a6p47@AUTS2
2.39e-66FFCP PHASE2:Hg19::chr2:70388198..70388245,-#_c2fb6b45ce14db32646e2778b7d02304p@chr2:70388198..70388245, -
2.39e-66FFCP PHASE1:Hg19::chr2:70388198..70388245,-#_c2fb6b45ce14db32646e2778b7d02304p@chr2:70388198..70388245, -
2.39e-66FFCP PHASE2:Hg19::chr12:131201475..131201485,-#_c2fb6b45ce14db32646e2778b7d02304p@chr12:131201475..131201485, -
2.39e-66FFCP PHASE2:Hg19::chr1:207105167..207105184,-#_c2fb6b45ce14db32646e2778b7d02304p5@PIGR
2.39e-66FFCP PHASE1:Hg19::chr1:207105167..207105184,-#_c2fb6b45ce14db32646e2778b7d02304p5@PIGR
2.39e-66FFCP PHASE2:Hg19::chr17:76475138..76475154,-#_c2fb6b45ce14db32646e2778b7d02304p@chr17:76475138..76475154, -
2.39e-66FFCP PHASE1:Hg19::chr12:131201475..131201485,-#_c2fb6b45ce14db32646e2778b7d02304p@chr12:131201475..131201485, -
2.39e-66FFCP PHASE1:Hg19::chr17:76475138..76475154,-#_c2fb6b45ce14db32646e2778b7d02304p@chr17:76475138..76475154, -
4.66e-66FFCP PHASE2:Hg19::chr11:109959243..109959256,+#_3d6cb4e637aea354550e9dd905428d97p@chr11:109959243..109959256, +
4.66e-66FFCP PHASE2:Hg19::chr13:100016406..100016419,+#_3d6cb4e637aea354550e9dd905428d97p@chr13:100016406..100016419, +
4.66e-66FFCP PHASE1:Hg19::chr13:100016406..100016419,+#_3d6cb4e637aea354550e9dd905428d97p@chr13:100016406..100016419, +
4.66e-66FFCP PHASE2:Hg19::chr8:142117194..142117210,+#_3d6cb4e637aea354550e9dd905428d97p@chr8:142117194..142117210, +
4.66e-66FFCP PHASE1:Hg19::chr8:142117194..142117210,+#_3d6cb4e637aea354550e9dd905428d97p@chr8:142117194..142117210, +
4.66e-66FFCP PHASE1:Hg19::chr11:109959243..109959256,+#_3d6cb4e637aea354550e9dd905428d97p@chr11:109959243..109959256, +
1.46e-50FFCP PHASE1:Hg19::chr22:39843128..39843135,+#_6beec9f5b5616abe6d521062f36df06cp@chr22:39843128..39843135, +
1.46e-50FFCP PHASE2:Hg19::chr14:75802635..75802649,+#_6beec9f5b5616abe6d521062f36df06cp@chr14:75802635..75802649, +
1.46e-50FFCP PHASE1:Hg19::chr14:75802635..75802649,+#_6beec9f5b5616abe6d521062f36df06cp@chr14:75802635..75802649, +
1.46e-50FFCP PHASE2:Hg19::chr18:56203145..56203154,+#_6beec9f5b5616abe6d521062f36df06cp@chr18:56203145..56203154, +
1.46e-50FFCP PHASE1:Hg19::chr18:56203145..56203154,+#_6beec9f5b5616abe6d521062f36df06cp@chr18:56203145..56203154, +
1.46e-50FFCP PHASE2:Hg19::chr22:39843128..39843135,+#_6beec9f5b5616abe6d521062f36df06cp@chr22:39843128..39843135, +
2.42e-50FFCP PHASE2:Hg19::chr8:6594766..6594776,+#_f01dafb7f7224e104091e29dbf7eb736p@chr8:6594766..6594776, +
2.42e-50FFCP PHASE1:Hg19::chr8:6594766..6594776,+#_f01dafb7f7224e104091e29dbf7eb736p@chr8:6594766..6594776, +
2.42e-50FFCP PHASE1:Hg19::chr14:25495787..25495796,-#_f01dafb7f7224e104091e29dbf7eb736p@chr14:25495787..25495796, -
2.42e-50FFCP PHASE2:Hg19::chr8:135577784..135577795,-#_f01dafb7f7224e104091e29dbf7eb736p15@ZFAT
2.42e-50FFCP PHASE1:Hg19::chr8:135577784..135577795,-#_f01dafb7f7224e104091e29dbf7eb736p15@ZFAT
2.42e-50FFCP PHASE2:Hg19::chr15:59665311..59665320,-#_f01dafb7f7224e104091e29dbf7eb736p6@MYO1E
2.42e-50FFCP PHASE1:Hg19::chr15:59665311..59665320,-#_f01dafb7f7224e104091e29dbf7eb736p6@MYO1E
2.42e-50FFCP PHASE2:Hg19::chr3:178791955..178791978,-#_f01dafb7f7224e104091e29dbf7eb736p@chr3:178791955..178791978, -
2.42e-50FFCP PHASE1:Hg19::chr3:178791955..178791978,-#_f01dafb7f7224e104091e29dbf7eb736p@chr3:178791955..178791978, -
2.42e-50FFCP PHASE2:Hg19::chr1:98642709..98642713,-#_f01dafb7f7224e104091e29dbf7eb736p@chr1:98642709..98642713, -
2.42e-50FFCP PHASE1:Hg19::chr1:98642709..98642713,-#_f01dafb7f7224e104091e29dbf7eb736p@chr1:98642709..98642713, -
2.42e-50FFCP PHASE2:Hg19::chr9:35650561..35650570,-#_f01dafb7f7224e104091e29dbf7eb736p3@SIT1
2.42e-50FFCP PHASE1:Hg19::chr9:35650561..35650570,-#_f01dafb7f7224e104091e29dbf7eb736p3@SIT1
2.42e-50FFCP PHASE2:Hg19::chr6:115036832..115036842,+#_f01dafb7f7224e104091e29dbf7eb736p@chr6:115036832..115036842, +
2.42e-50FFCP PHASE2:Hg19::chr1:207105188..207105210,-#_f01dafb7f7224e104091e29dbf7eb736p3@PIGR
2.42e-50FFCP PHASE1:Hg19::chr6:115036832..115036842,+#_f01dafb7f7224e104091e29dbf7eb736p@chr6:115036832..115036842, +
2.42e-50FFCP PHASE2:Hg19::chrX:11786454..11786465,+#_f01dafb7f7224e104091e29dbf7eb736p25@MSL3
2.42e-50FFCP PHASE1:Hg19::chrX:11786454..11786465,+#_f01dafb7f7224e104091e29dbf7eb736p25@MSL3
2.42e-50FFCP PHASE2:Hg19::chr9:79057008..79057019,+#_f01dafb7f7224e104091e29dbf7eb736p5@GCNT1
2.42e-50FFCP PHASE1:Hg19::chr9:79057008..79057019,+#_f01dafb7f7224e104091e29dbf7eb736p5@GCNT1
2.42e-50FFCP PHASE1:Hg19::chr1:207105188..207105210,-#_f01dafb7f7224e104091e29dbf7eb736p3@PIGR
2.42e-50FFCP PHASE2:Hg19::chr2:160779191..160779202,-#_f01dafb7f7224e104091e29dbf7eb736p@chr2:160779191..160779202, -
2.42e-50FFCP PHASE2:Hg19::chr14:25495787..25495796,-#_f01dafb7f7224e104091e29dbf7eb736p@chr14:25495787..25495796, -
2.42e-50FFCP PHASE1:Hg19::chr2:160779191..160779202,-#_f01dafb7f7224e104091e29dbf7eb736p@chr2:160779191..160779202, -
3.99e-50FFCP PHASE2:Hg19::chr17:79213963..79213968,+#_1cce4c0f0a4a803360d7604b612780bfp@chr17:79213963..79213968, +
3.99e-50FFCP PHASE2:Hg19::chr15:79310342..79310352,-#_1cce4c0f0a4a803360d7604b612780bfp17@RASGRF1
3.99e-50FFCP PHASE1:Hg19::chr15:79310342..79310352,-#_1cce4c0f0a4a803360d7604b612780bfp17@RASGRF1
3.99e-50FFCP PHASE2:Hg19::chr16:9934872..9934888,-#_1cce4c0f0a4a803360d7604b612780bfp@chr16:9934872..9934888, -
3.99e-50FFCP PHASE1:Hg19::chr17:79213963..79213968,+#_1cce4c0f0a4a803360d7604b612780bfp@chr17:79213963..79213968, +
3.99e-50FFCP PHASE1:Hg19::chr16:9934872..9934888,-#_1cce4c0f0a4a803360d7604b612780bfp@chr16:9934872..9934888, -
3.99e-50FFCP PHASE1:Hg19::chr11:109958732..109958742,-#_1cce4c0f0a4a803360d7604b612780bfp@chr11:109958732..109958742, -
3.99e-50FFCP PHASE2:Hg19::chr11:109958732..109958742,-#_1cce4c0f0a4a803360d7604b612780bfp@chr11:109958732..109958742, -
3.99e-50FFCP PHASE2:Hg19::chr15:90546643..90546659,+#_1cce4c0f0a4a803360d7604b612780bfp@chr15:90546643..90546659, +
3.99e-50FFCP PHASE1:Hg19::chr15:90546643..90546659,+#_1cce4c0f0a4a803360d7604b612780bfp@chr15:90546643..90546659, +
3.99e-50FFCP PHASE2:Hg19::chr9:87316933..87316943,+#_1cce4c0f0a4a803360d7604b612780bfp@chr9:87316933..87316943, +
3.99e-50FFCP PHASE1:Hg19::chr9:87316933..87316943,+#_1cce4c0f0a4a803360d7604b612780bfp@chr9:87316933..87316943, +
6.58e-50FFCP PHASE1:Hg19::chr5:142405106..142405133,+#_66d4926f9b70b189f2a450e3864175b5p@chr5:142405106..142405133, +
6.58e-50FFCP PHASE2:Hg19::chr1:238225731..238225741,+#_66d4926f9b70b189f2a450e3864175b5p@chr1:238225731..238225741, +
6.58e-50FFCP PHASE2:Hg19::chr12:115345793..115345801,+#_66d4926f9b70b189f2a450e3864175b5p@chr12:115345793..115345801, +
6.58e-50FFCP PHASE1:Hg19::chr4:147194614..147194626,+#_66d4926f9b70b189f2a450e3864175b5p@chr4:147194614..147194626, +
6.58e-50FFCP PHASE2:Hg19::chr2:197274224..197274231,-#_66d4926f9b70b189f2a450e3864175b5p@chr2:197274224..197274231, -
6.58e-50FFCP PHASE2:Hg19::chr2:238661800..238661842,+#_66d4926f9b70b189f2a450e3864175b5p@chr2:238661800..238661842, +

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