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DOID:0050177

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Name:monogenic disease
Namespace:FANTOM
Definition:"A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele)." [DO:wk\,ls]

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:630(genetic disease)



Children


is a:DOID:0050739 (autosomal genetic disease),DOID:1485 (cystic fibrosis),DOID:2962 (Cockayne syndrome),DOID:5688 (Werner syndrome)


Ontology Tree: Loaded from BioPortal

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:0050177 (monogenic disease), sorted by p-values
Analyst: Hideya Kawaji

link to source dataset
human : data
mouse : data


P-valueFFCPShort description
5.42e-195FFCP PHASE1:Hg19::chr1:101838740..101838743,+#_cb95dbd13685e0e1b30a4ecfd4903a2dp@chr1:101838740..101838743, +
5.42e-195FFCP PHASE2:Hg19::chr1:101838740..101838743,+#_cb95dbd13685e0e1b30a4ecfd4903a2dp@chr1:101838740..101838743, +
5.42e-195FFCP PHASE2:Hg19::chr11:33676379..33676397,+#_cb95dbd13685e0e1b30a4ecfd4903a2dp@chr11:33676379..33676397, +
5.42e-195FFCP PHASE1:Hg19::chr1:101914223..101914228,-#_cb95dbd13685e0e1b30a4ecfd4903a2dp@chr1:101914223..101914228, -
5.42e-195FFCP PHASE1:Hg19::chr11:33676379..33676397,+#_cb95dbd13685e0e1b30a4ecfd4903a2dp@chr11:33676379..33676397, +
5.42e-195FFCP PHASE2:Hg19::chr1:101914223..101914228,-#_cb95dbd13685e0e1b30a4ecfd4903a2dp@chr1:101914223..101914228, -
5.42e-195FFCP PHASE2:Hg19::chr1:152880744..152880747,+#_cb95dbd13685e0e1b30a4ecfd4903a2dp3@IVL
5.42e-195FFCP PHASE2:Hg19::chr2:25643157..25643159,+#_cb95dbd13685e0e1b30a4ecfd4903a2dp@chr2:25643157..25643159, +
5.42e-195FFCP PHASE1:Hg19::chr2:25643157..25643159,+#_cb95dbd13685e0e1b30a4ecfd4903a2dp@chr2:25643157..25643159, +
5.42e-195FFCP PHASE1:Hg19::chr1:152880744..152880747,+#_cb95dbd13685e0e1b30a4ecfd4903a2dp3@IVL
9.37e-99FFCP PHASE1:Hg19::chr18:67613122..67613129,-#_e603fe30f04433db7885145e54d755d1p@chr18:67613122..67613129, -
9.37e-99FFCP PHASE2:Hg19::chr18:67613122..67613129,-#_e603fe30f04433db7885145e54d755d1p@chr18:67613122..67613129, -
9.37e-99FFCP PHASE2:Hg19::chr22:23055632..23055638,+#_e603fe30f04433db7885145e54d755d1p3@DQ234400
9.37e-99FFCP PHASE1:Hg19::chr4:5364767..5364769,+#_e603fe30f04433db7885145e54d755d1p@chr4:5364767..5364769, +
9.37e-99FFCP PHASE1:Hg19::chr22:23055632..23055638,+#_e603fe30f04433db7885145e54d755d1p3@DQ234400
9.37e-99FFCP PHASE2:Hg19::chr4:5364767..5364769,+#_e603fe30f04433db7885145e54d755d1p@chr4:5364767..5364769, +
2.55e-98FFCP PHASE1:Hg19::chr11:2644357..2644369,+#_dafd22ade31221d7367820c8ee7a8cf4p@chr11:2644357..2644369, +
2.55e-98FFCP PHASE2:Hg19::chr12:50616792..50616804,-#_dafd22ade31221d7367820c8ee7a8cf4p29@LIMA1
2.55e-98FFCP PHASE1:Hg19::chr20:56058449..56058484,+#_dafd22ade31221d7367820c8ee7a8cf4p@chr20:56058449..56058484, +
2.55e-98FFCP PHASE1:Hg19::chr6:115036814..115036827,+#_dafd22ade31221d7367820c8ee7a8cf4p@chr6:115036814..115036827, +
2.55e-98FFCP PHASE2:Hg19::chr6:115036814..115036827,+#_dafd22ade31221d7367820c8ee7a8cf4p@chr6:115036814..115036827, +
2.55e-98FFCP PHASE2:Hg19::chr8:56034458..56034491,+#_dafd22ade31221d7367820c8ee7a8cf4p@chr8:56034458..56034491, +
2.55e-98FFCP PHASE2:Hg19::chr13:99573473..99573481,-#_dafd22ade31221d7367820c8ee7a8cf4p@chr13:99573473..99573481, -
2.55e-98FFCP PHASE2:Hg19::chr20:56058449..56058484,+#_dafd22ade31221d7367820c8ee7a8cf4p@chr20:56058449..56058484, +
2.55e-98FFCP PHASE1:Hg19::chr20:46041421..46041448,-#_dafd22ade31221d7367820c8ee7a8cf4p3@ENST00000437920
2.55e-98FFCP PHASE1:Hg19::chr2:889109..889122,-#_dafd22ade31221d7367820c8ee7a8cf4p@chr2:889109..889122, -
2.55e-98FFCP PHASE2:Hg19::chr11:114997342..114997344,-#_dafd22ade31221d7367820c8ee7a8cf4p@chr11:114997342..114997344, -
2.55e-98FFCP PHASE1:Hg19::chr12:50616792..50616804,-#_dafd22ade31221d7367820c8ee7a8cf4p29@LIMA1
2.55e-98FFCP PHASE1:Hg19::chr6:166581392..166581398,+#_dafd22ade31221d7367820c8ee7a8cf4p@chr6:166581392..166581398, +
2.55e-98FFCP PHASE1:Hg19::chr13:99573473..99573481,-#_dafd22ade31221d7367820c8ee7a8cf4p@chr13:99573473..99573481, -
2.55e-98FFCP PHASE1:Hg19::chr11:114997342..114997344,-#_dafd22ade31221d7367820c8ee7a8cf4p@chr11:114997342..114997344, -
2.55e-98FFCP PHASE2:Hg19::chr2:889109..889122,-#_dafd22ade31221d7367820c8ee7a8cf4p@chr2:889109..889122, -
2.55e-98FFCP PHASE2:Hg19::chr6:166581392..166581398,+#_dafd22ade31221d7367820c8ee7a8cf4p@chr6:166581392..166581398, +
2.55e-98FFCP PHASE1:Hg19::chr8:56034458..56034491,+#_dafd22ade31221d7367820c8ee7a8cf4p@chr8:56034458..56034491, +
2.55e-98FFCP PHASE2:Hg19::chr20:46041421..46041448,-#_dafd22ade31221d7367820c8ee7a8cf4p3@ENST00000437920
2.55e-98FFCP PHASE2:Hg19::chr11:2644357..2644369,+#_dafd22ade31221d7367820c8ee7a8cf4p@chr11:2644357..2644369, +
1.23e-66FFCP PHASE2:Hg19::chr7:70241758..70241770,+#_25e14a1ab77513b525521cb9da03501ep47@AUTS2
1.23e-66FFCP PHASE1:Hg19::chr7:70241758..70241770,+#_25e14a1ab77513b525521cb9da03501ep47@AUTS2
2.39e-66FFCP PHASE2:Hg19::chr1:207105167..207105184,-#_b1b9556056ff0c30d69ffb911bb1a473p5@PIGR
2.39e-66FFCP PHASE2:Hg19::chr17:76475138..76475154,-#_b1b9556056ff0c30d69ffb911bb1a473p@chr17:76475138..76475154, -
2.39e-66FFCP PHASE2:Hg19::chr2:70388198..70388245,-#_b1b9556056ff0c30d69ffb911bb1a473p@chr2:70388198..70388245, -
2.39e-66FFCP PHASE1:Hg19::chr1:207105167..207105184,-#_b1b9556056ff0c30d69ffb911bb1a473p5@PIGR
2.39e-66FFCP PHASE2:Hg19::chr12:131201475..131201485,-#_b1b9556056ff0c30d69ffb911bb1a473p@chr12:131201475..131201485, -
2.39e-66FFCP PHASE1:Hg19::chr17:76475138..76475154,-#_b1b9556056ff0c30d69ffb911bb1a473p@chr17:76475138..76475154, -
2.39e-66FFCP PHASE1:Hg19::chr12:131201475..131201485,-#_b1b9556056ff0c30d69ffb911bb1a473p@chr12:131201475..131201485, -
2.39e-66FFCP PHASE1:Hg19::chr2:70388198..70388245,-#_b1b9556056ff0c30d69ffb911bb1a473p@chr2:70388198..70388245, -
4.66e-66FFCP PHASE2:Hg19::chr11:109959243..109959256,+#_9f6a6e609feeef4bf08aa16a0df069bep@chr11:109959243..109959256, +
4.66e-66FFCP PHASE1:Hg19::chr11:109959243..109959256,+#_9f6a6e609feeef4bf08aa16a0df069bep@chr11:109959243..109959256, +
4.66e-66FFCP PHASE2:Hg19::chr13:100016406..100016419,+#_9f6a6e609feeef4bf08aa16a0df069bep@chr13:100016406..100016419, +
4.66e-66FFCP PHASE1:Hg19::chr8:142117194..142117210,+#_9f6a6e609feeef4bf08aa16a0df069bep@chr8:142117194..142117210, +
4.66e-66FFCP PHASE2:Hg19::chr8:142117194..142117210,+#_9f6a6e609feeef4bf08aa16a0df069bep@chr8:142117194..142117210, +
4.66e-66FFCP PHASE1:Hg19::chr13:100016406..100016419,+#_9f6a6e609feeef4bf08aa16a0df069bep@chr13:100016406..100016419, +
1.46e-50FFCP PHASE1:Hg19::chr22:39843128..39843135,+#_f75e480dba43e60ba2c930a3c0f46c32p@chr22:39843128..39843135, +
1.46e-50FFCP PHASE2:Hg19::chr14:75802635..75802649,+#_f75e480dba43e60ba2c930a3c0f46c32p@chr14:75802635..75802649, +
1.46e-50FFCP PHASE1:Hg19::chr14:75802635..75802649,+#_f75e480dba43e60ba2c930a3c0f46c32p@chr14:75802635..75802649, +
1.46e-50FFCP PHASE2:Hg19::chr18:56203145..56203154,+#_f75e480dba43e60ba2c930a3c0f46c32p@chr18:56203145..56203154, +
1.46e-50FFCP PHASE1:Hg19::chr18:56203145..56203154,+#_f75e480dba43e60ba2c930a3c0f46c32p@chr18:56203145..56203154, +
1.46e-50FFCP PHASE2:Hg19::chr22:39843128..39843135,+#_f75e480dba43e60ba2c930a3c0f46c32p@chr22:39843128..39843135, +
2.42e-50FFCP PHASE2:Hg19::chr2:160779191..160779202,-#_2f1687f5dc6f03ad473ccd154b1c959fp@chr2:160779191..160779202, -
2.42e-50FFCP PHASE1:Hg19::chr14:25495787..25495796,-#_2f1687f5dc6f03ad473ccd154b1c959fp@chr14:25495787..25495796, -
2.42e-50FFCP PHASE2:Hg19::chr1:98642709..98642713,-#_2f1687f5dc6f03ad473ccd154b1c959fp@chr1:98642709..98642713, -
2.42e-50FFCP PHASE1:Hg19::chrX:11786454..11786465,+#_2f1687f5dc6f03ad473ccd154b1c959fp25@MSL3
2.42e-50FFCP PHASE2:Hg19::chr3:178791955..178791978,-#_2f1687f5dc6f03ad473ccd154b1c959fp@chr3:178791955..178791978, -
2.42e-50FFCP PHASE2:Hg19::chrX:11786454..11786465,+#_2f1687f5dc6f03ad473ccd154b1c959fp25@MSL3
2.42e-50FFCP PHASE1:Hg19::chr15:59665311..59665320,-#_2f1687f5dc6f03ad473ccd154b1c959fp6@MYO1E
2.42e-50FFCP PHASE1:Hg19::chr9:79057008..79057019,+#_2f1687f5dc6f03ad473ccd154b1c959fp5@GCNT1
2.42e-50FFCP PHASE1:Hg19::chr3:178791955..178791978,-#_2f1687f5dc6f03ad473ccd154b1c959fp@chr3:178791955..178791978, -
2.42e-50FFCP PHASE2:Hg19::chr8:135577784..135577795,-#_2f1687f5dc6f03ad473ccd154b1c959fp15@ZFAT
2.42e-50FFCP PHASE1:Hg19::chr6:115036832..115036842,+#_2f1687f5dc6f03ad473ccd154b1c959fp@chr6:115036832..115036842, +
2.42e-50FFCP PHASE2:Hg19::chr1:207105188..207105210,-#_2f1687f5dc6f03ad473ccd154b1c959fp3@PIGR
2.42e-50FFCP PHASE2:Hg19::chr6:115036832..115036842,+#_2f1687f5dc6f03ad473ccd154b1c959fp@chr6:115036832..115036842, +
2.42e-50FFCP PHASE1:Hg19::chr1:98642709..98642713,-#_2f1687f5dc6f03ad473ccd154b1c959fp@chr1:98642709..98642713, -
2.42e-50FFCP PHASE1:Hg19::chr8:6594766..6594776,+#_2f1687f5dc6f03ad473ccd154b1c959fp@chr8:6594766..6594776, +
2.42e-50FFCP PHASE2:Hg19::chr9:35650561..35650570,-#_2f1687f5dc6f03ad473ccd154b1c959fp3@SIT1
2.42e-50FFCP PHASE2:Hg19::chr14:25495787..25495796,-#_2f1687f5dc6f03ad473ccd154b1c959fp@chr14:25495787..25495796, -
2.42e-50FFCP PHASE2:Hg19::chr8:6594766..6594776,+#_2f1687f5dc6f03ad473ccd154b1c959f+, p@chr8:6594766..6594776
2.42e-50FFCP PHASE1:Hg19::chr8:135577784..135577795,-#_2f1687f5dc6f03ad473ccd154b1c959fp15@ZFAT
2.42e-50FFCP PHASE2:Hg19::chr9:79057008..79057019,+#_2f1687f5dc6f03ad473ccd154b1c959fp5@GCNT1
2.42e-50FFCP PHASE2:Hg19::chr15:59665311..59665320,-#_2f1687f5dc6f03ad473ccd154b1c959fp6@MYO1E
2.42e-50FFCP PHASE1:Hg19::chr1:207105188..207105210,-#_2f1687f5dc6f03ad473ccd154b1c959fp3@PIGR
2.42e-50FFCP PHASE1:Hg19::chr2:160779191..160779202,-#_2f1687f5dc6f03ad473ccd154b1c959fp@chr2:160779191..160779202, -
2.42e-50FFCP PHASE1:Hg19::chr9:35650561..35650570,-#_2f1687f5dc6f03ad473ccd154b1c959fp3@SIT1
3.99e-50FFCP PHASE2:Hg19::chr15:79310342..79310352,-#_4c7d0e186e27c49f233892804d1a019dp17@RASGRF1
3.99e-50FFCP PHASE1:Hg19::chr15:79310342..79310352,-#_4c7d0e186e27c49f233892804d1a019dp17@RASGRF1
3.99e-50FFCP PHASE1:Hg19::chr16:9934872..9934888,-#_4c7d0e186e27c49f233892804d1a019dp@chr16:9934872..9934888, -
3.99e-50FFCP PHASE1:Hg19::chr17:79213963..79213968,+#_4c7d0e186e27c49f233892804d1a019dp@chr17:79213963..79213968, +
3.99e-50FFCP PHASE2:Hg19::chr11:109958732..109958742,-#_4c7d0e186e27c49f233892804d1a019dp@chr11:109958732..109958742, -
3.99e-50FFCP PHASE2:Hg19::chr17:79213963..79213968,+#_4c7d0e186e27c49f233892804d1a019d+, p@chr17:79213963..79213968
3.99e-50FFCP PHASE1:Hg19::chr11:109958732..109958742,-#_4c7d0e186e27c49f233892804d1a019dp@chr11:109958732..109958742, -
3.99e-50FFCP PHASE2:Hg19::chr15:90546643..90546659,+#_4c7d0e186e27c49f233892804d1a019dp@chr15:90546643..90546659, +
3.99e-50FFCP PHASE1:Hg19::chr15:90546643..90546659,+#_4c7d0e186e27c49f233892804d1a019dp@chr15:90546643..90546659, +
3.99e-50FFCP PHASE2:Hg19::chr9:87316933..87316943,+#_4c7d0e186e27c49f233892804d1a019dp@chr9:87316933..87316943, +
3.99e-50FFCP PHASE2:Hg19::chr16:9934872..9934888,-#_4c7d0e186e27c49f233892804d1a019dp@chr16:9934872..9934888, -
3.99e-50FFCP PHASE1:Hg19::chr9:87316933..87316943,+#_4c7d0e186e27c49f233892804d1a019dp@chr9:87316933..87316943, +
6.58e-50FFCP PHASE1:Hg19::chr7:2208099..2208102,+#_08cb672098a5a373aca57697268a2bd2p@chr7:2208099..2208102, +
6.58e-50FFCP PHASE2:Hg19::chr1:160616775..160616791,+#_08cb672098a5a373aca57697268a2bd2p@chr1:160616775..160616791, +
6.58e-50FFCP PHASE2:Hg19::chr16:14700008..14700028,-#_08cb672098a5a373aca57697268a2bd2p@chr16:14700008..14700028, -
6.58e-50FFCP PHASE2:Hg19::chr12:45820291..45820337,-#_08cb672098a5a373aca57697268a2bd2p@chr12:45820291..45820337, -
6.58e-50FFCP PHASE1:Hg19::chr12:45820291..45820337,-#_08cb672098a5a373aca57697268a2bd2p@chr12:45820291..45820337, -
6.58e-50FFCP PHASE1:Hg19::chr2:197274224..197274231,-#_08cb672098a5a373aca57697268a2bd2p@chr2:197274224..197274231, -