DOID:0050177: Difference between revisions
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{{DOID | {{DOID | ||
| | |alt_id= | ||
|comment= | |comment= | ||
|created_by= | |created_by= | ||
| | |def="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] | ||
|derives_from= | |derives_from= | ||
|develops_from= | |develops_from= | ||
|disjoint_from= | |||
|has_quality= | |has_quality= | ||
|id=DOID:0050177 | |||
|is_a=DOID:630 | |||
|is_obsolete= | |||
|located_in= | |located_in= | ||
|name=monogenic disease | |||
|namespace=FANTOM | |||
|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 | ||
| | |subset= | ||
| | |synonym= | ||
|union_of= | |||
|xref= | |||
}} | }} | ||
Latest revision as of 16:47, 12 September 2014
| 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<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: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
Ontorolgy tree(Small window open)
FF samples
Human (Homo sapiens)
- 10521-107E8
- 10563-108A5 (xeroderma pigentosum b cell line:XPL 17)
- 10564-108A6
- 10566-108A8
- 10583-108C7
- 10584-108C8
- 10634-108I4
- 10804-111A3
- 10806-111A5
- 10814-111B4
... further results Mouse (Mus musculus)
- 10521-107E8
- 10563-108A5 (xeroderma pigentosum b cell line:XPL 17)
- 10564-108A6
- 10566-108A8
- 10583-108C7
- 10584-108C8
- 10634-108I4
- 10804-111A3
- 10806-111A5
- 10814-111B4
Enrichment analysis: top 100 FFCP enriched with this ontology termTOP 100 FANTOM5 Cage Peaks enriched with DOID:0050177 (monogenic disease), sorted by p-values <br>Analyst: Hideya Kawaji<br><br>link to source dataset <br>human : data <br>mouse : data
| P-value | FFCP | Short description |
|---|---|---|
| 5.42e-195 | FFCP PHASE1:Hg19::chr2:25643157..25643159,+#_cb95dbd13685e0e1b30a4ecfd4903a2d | p@chr2:25643157..25643159, + |
| 5.42e-195 | FFCP PHASE2:Hg19::chr1:101838740..101838743,+#_cb95dbd13685e0e1b30a4ecfd4903a2d | p@chr1:101838740..101838743, + |
| 5.42e-195 | FFCP PHASE1:Hg19::chr1:101838740..101838743,+#_cb95dbd13685e0e1b30a4ecfd4903a2d | p@chr1:101838740..101838743, + |
| 5.42e-195 | FFCP PHASE2:Hg19::chr1:101914223..101914228,-#_cb95dbd13685e0e1b30a4ecfd4903a2d | p@chr1:101914223..101914228, - |
| 5.42e-195 | FFCP PHASE1:Hg19::chr1:101914223..101914228,-#_cb95dbd13685e0e1b30a4ecfd4903a2d | p@chr1:101914223..101914228, - |
| 5.42e-195 | FFCP PHASE1:Hg19::chr11:33676379..33676397,+#_cb95dbd13685e0e1b30a4ecfd4903a2d | p@chr11:33676379..33676397, + |
| 5.42e-195 | FFCP PHASE2:Hg19::chr11:33676379..33676397,+#_cb95dbd13685e0e1b30a4ecfd4903a2d | p@chr11:33676379..33676397, + |
| 5.42e-195 | FFCP PHASE2:Hg19::chr1:152880744..152880747,+#_cb95dbd13685e0e1b30a4ecfd4903a2d | p3@IVL |
| 5.42e-195 | FFCP PHASE1:Hg19::chr1:152880744..152880747,+#_cb95dbd13685e0e1b30a4ecfd4903a2d | p3@IVL |
| 5.42e-195 | FFCP PHASE2:Hg19::chr2:25643157..25643159,+#_cb95dbd13685e0e1b30a4ecfd4903a2d | p@chr2:25643157..25643159, + |
| 9.37e-99 | FFCP PHASE2:Hg19::chr22:23055632..23055638,+#_e603fe30f04433db7885145e54d755d1 | p3@DQ234400 |
| 9.37e-99 | FFCP PHASE1:Hg19::chr22:23055632..23055638,+#_e603fe30f04433db7885145e54d755d1 | p3@DQ234400 |
| 9.37e-99 | FFCP PHASE2:Hg19::chr4:5364767..5364769,+#_e603fe30f04433db7885145e54d755d1 | p@chr4:5364767..5364769, + |
| 9.37e-99 | FFCP PHASE1:Hg19::chr4:5364767..5364769,+#_e603fe30f04433db7885145e54d755d1 | p@chr4:5364767..5364769, + |
| 9.37e-99 | FFCP PHASE2:Hg19::chr18:67613122..67613129,-#_e603fe30f04433db7885145e54d755d1 | p@chr18:67613122..67613129, - |
| 9.37e-99 | FFCP PHASE1:Hg19::chr18:67613122..67613129,-#_e603fe30f04433db7885145e54d755d1 | p@chr18:67613122..67613129, - |
| 2.55e-98 | FFCP PHASE2:Hg19::chr20:56058449..56058484,+#_dafd22ade31221d7367820c8ee7a8cf4 | p@chr20:56058449..56058484, + |
| 2.55e-98 | FFCP PHASE1:Hg19::chr20:56058449..56058484,+#_dafd22ade31221d7367820c8ee7a8cf4 | p@chr20:56058449..56058484, + |
| 2.55e-98 | FFCP PHASE2:Hg19::chr8:56034458..56034491,+#_dafd22ade31221d7367820c8ee7a8cf4 | p@chr8:56034458..56034491, + |
| 2.55e-98 | FFCP PHASE2:Hg19::chr20:46041421..46041448,-#_dafd22ade31221d7367820c8ee7a8cf4 | p3@ENST00000437920 |
| 2.55e-98 | FFCP PHASE1:Hg19::chr12:50616792..50616804,-#_dafd22ade31221d7367820c8ee7a8cf4 | p29@LIMA1 |
| 2.55e-98 | FFCP PHASE1:Hg19::chr8:56034458..56034491,+#_dafd22ade31221d7367820c8ee7a8cf4 | p@chr8:56034458..56034491, + |
| 2.55e-98 | FFCP PHASE2:Hg19::chr6:115036814..115036827,+#_dafd22ade31221d7367820c8ee7a8cf4 | p@chr6:115036814..115036827, + |
| 2.55e-98 | FFCP PHASE1:Hg19::chr20:46041421..46041448,-#_dafd22ade31221d7367820c8ee7a8cf4 | p3@ENST00000437920 |
| 2.55e-98 | FFCP PHASE1:Hg19::chr6:115036814..115036827,+#_dafd22ade31221d7367820c8ee7a8cf4 | p@chr6:115036814..115036827, + |
| 2.55e-98 | FFCP PHASE1:Hg19::chr11:114997342..114997344,-#_dafd22ade31221d7367820c8ee7a8cf4 | p@chr11:114997342..114997344, - |
| 2.55e-98 | FFCP PHASE2:Hg19::chr13:99573473..99573481,-#_dafd22ade31221d7367820c8ee7a8cf4 | p@chr13:99573473..99573481, - |
| 2.55e-98 | FFCP PHASE2:Hg19::chr11:114997342..114997344,-#_dafd22ade31221d7367820c8ee7a8cf4 | p@chr11:114997342..114997344, - |
| 2.55e-98 | FFCP PHASE2:Hg19::chr2:889109..889122,-#_dafd22ade31221d7367820c8ee7a8cf4 | p@chr2:889109..889122, - |
| 2.55e-98 | FFCP PHASE1:Hg19::chr2:889109..889122,-#_dafd22ade31221d7367820c8ee7a8cf4 | p@chr2:889109..889122, - |
| 2.55e-98 | FFCP PHASE1:Hg19::chr13:99573473..99573481,-#_dafd22ade31221d7367820c8ee7a8cf4 | p@chr13:99573473..99573481, - |
| 2.55e-98 | FFCP PHASE2:Hg19::chr12:50616792..50616804,-#_dafd22ade31221d7367820c8ee7a8cf4 | p29@LIMA1 |
| 2.55e-98 | FFCP PHASE2:Hg19::chr6:166581392..166581398,+#_dafd22ade31221d7367820c8ee7a8cf4 | p@chr6:166581392..166581398, + |
| 2.55e-98 | FFCP PHASE1:Hg19::chr6:166581392..166581398,+#_dafd22ade31221d7367820c8ee7a8cf4 | p@chr6:166581392..166581398, + |
| 2.55e-98 | FFCP PHASE1:Hg19::chr11:2644357..2644369,+#_dafd22ade31221d7367820c8ee7a8cf4 | p@chr11:2644357..2644369, + |
| 2.55e-98 | FFCP PHASE2:Hg19::chr11:2644357..2644369,+#_dafd22ade31221d7367820c8ee7a8cf4 | p@chr11:2644357..2644369, + |
| 1.23e-66 | FFCP PHASE1:Hg19::chr7:70241758..70241770,+#_25e14a1ab77513b525521cb9da03501e | p47@AUTS2 |
| 1.23e-66 | FFCP PHASE2:Hg19::chr7:70241758..70241770,+#_25e14a1ab77513b525521cb9da03501e | p47@AUTS2 |
| 2.39e-66 | FFCP PHASE2:Hg19::chr2:70388198..70388245,-#_b1b9556056ff0c30d69ffb911bb1a473 | p@chr2:70388198..70388245, - |
| 2.39e-66 | FFCP PHASE1:Hg19::chr2:70388198..70388245,-#_b1b9556056ff0c30d69ffb911bb1a473 | p@chr2:70388198..70388245, - |
| 2.39e-66 | FFCP PHASE2:Hg19::chr12:131201475..131201485,-#_b1b9556056ff0c30d69ffb911bb1a473 | p@chr12:131201475..131201485, - |
| 2.39e-66 | FFCP PHASE2:Hg19::chr1:207105167..207105184,-#_b1b9556056ff0c30d69ffb911bb1a473 | p5@PIGR |
| 2.39e-66 | FFCP PHASE1:Hg19::chr1:207105167..207105184,-#_b1b9556056ff0c30d69ffb911bb1a473 | p5@PIGR |
| 2.39e-66 | FFCP PHASE2:Hg19::chr17:76475138..76475154,-#_b1b9556056ff0c30d69ffb911bb1a473 | p@chr17:76475138..76475154, - |
| 2.39e-66 | FFCP PHASE1:Hg19::chr12:131201475..131201485,-#_b1b9556056ff0c30d69ffb911bb1a473 | p@chr12:131201475..131201485, - |
| 2.39e-66 | FFCP PHASE1:Hg19::chr17:76475138..76475154,-#_b1b9556056ff0c30d69ffb911bb1a473 | p@chr17:76475138..76475154, - |
| 4.66e-66 | FFCP PHASE2:Hg19::chr11:109959243..109959256,+#_9f6a6e609feeef4bf08aa16a0df069be | p@chr11:109959243..109959256, + |
| 4.66e-66 | FFCP PHASE2:Hg19::chr13:100016406..100016419,+#_9f6a6e609feeef4bf08aa16a0df069be | p@chr13:100016406..100016419, + |
| 4.66e-66 | FFCP PHASE1:Hg19::chr13:100016406..100016419,+#_9f6a6e609feeef4bf08aa16a0df069be | p@chr13:100016406..100016419, + |
| 4.66e-66 | FFCP PHASE2:Hg19::chr8:142117194..142117210,+#_9f6a6e609feeef4bf08aa16a0df069be | p@chr8:142117194..142117210, + |
| 4.66e-66 | FFCP PHASE1:Hg19::chr8:142117194..142117210,+#_9f6a6e609feeef4bf08aa16a0df069be | p@chr8:142117194..142117210, + |
| 4.66e-66 | FFCP PHASE1:Hg19::chr11:109959243..109959256,+#_9f6a6e609feeef4bf08aa16a0df069be | p@chr11:109959243..109959256, + |
| 1.46e-50 | FFCP PHASE1:Hg19::chr22:39843128..39843135,+#_f75e480dba43e60ba2c930a3c0f46c32 | p@chr22:39843128..39843135, + |
| 1.46e-50 | FFCP PHASE2:Hg19::chr14:75802635..75802649,+#_f75e480dba43e60ba2c930a3c0f46c32 | p@chr14:75802635..75802649, + |
| 1.46e-50 | FFCP PHASE1:Hg19::chr14:75802635..75802649,+#_f75e480dba43e60ba2c930a3c0f46c32 | p@chr14:75802635..75802649, + |
| 1.46e-50 | FFCP PHASE2:Hg19::chr18:56203145..56203154,+#_f75e480dba43e60ba2c930a3c0f46c32 | p@chr18:56203145..56203154, + |
| 1.46e-50 | FFCP PHASE1:Hg19::chr18:56203145..56203154,+#_f75e480dba43e60ba2c930a3c0f46c32 | p@chr18:56203145..56203154, + |
| 1.46e-50 | FFCP PHASE2:Hg19::chr22:39843128..39843135,+#_f75e480dba43e60ba2c930a3c0f46c32 | p@chr22:39843128..39843135, + |
| 2.42e-50 | FFCP PHASE2:Hg19::chr8:6594766..6594776,+#_2f1687f5dc6f03ad473ccd154b1c959f | p@chr8:6594766..6594776, + |
| 2.42e-50 | FFCP PHASE1:Hg19::chr8:6594766..6594776,+#_2f1687f5dc6f03ad473ccd154b1c959f | p@chr8:6594766..6594776, + |
| 2.42e-50 | FFCP PHASE1:Hg19::chr14:25495787..25495796,-#_2f1687f5dc6f03ad473ccd154b1c959f | p@chr14:25495787..25495796, - |
| 2.42e-50 | FFCP PHASE2:Hg19::chr8:135577784..135577795,-#_2f1687f5dc6f03ad473ccd154b1c959f | p15@ZFAT |
| 2.42e-50 | FFCP PHASE1:Hg19::chr8:135577784..135577795,-#_2f1687f5dc6f03ad473ccd154b1c959f | p15@ZFAT |
| 2.42e-50 | FFCP PHASE2:Hg19::chr15:59665311..59665320,-#_2f1687f5dc6f03ad473ccd154b1c959f | p6@MYO1E |
| 2.42e-50 | FFCP PHASE1:Hg19::chr15:59665311..59665320,-#_2f1687f5dc6f03ad473ccd154b1c959f | p6@MYO1E |
| 2.42e-50 | FFCP PHASE2:Hg19::chr3:178791955..178791978,-#_2f1687f5dc6f03ad473ccd154b1c959f | p@chr3:178791955..178791978, - |
| 2.42e-50 | FFCP PHASE2:Hg19::chr1:98642709..98642713,-#_2f1687f5dc6f03ad473ccd154b1c959f | p@chr1:98642709..98642713, - |
| 2.42e-50 | FFCP PHASE1:Hg19::chr3:178791955..178791978,-#_2f1687f5dc6f03ad473ccd154b1c959f | p@chr3:178791955..178791978, - |
| 2.42e-50 | FFCP PHASE1:Hg19::chr1:98642709..98642713,-#_2f1687f5dc6f03ad473ccd154b1c959f | p@chr1:98642709..98642713, - |
| 2.42e-50 | FFCP PHASE2:Hg19::chr9:35650561..35650570,-#_2f1687f5dc6f03ad473ccd154b1c959f | p3@SIT1 |
| 2.42e-50 | FFCP PHASE1:Hg19::chr9:35650561..35650570,-#_2f1687f5dc6f03ad473ccd154b1c959f | p3@SIT1 |
| 2.42e-50 | FFCP PHASE2:Hg19::chr6:115036832..115036842,+#_2f1687f5dc6f03ad473ccd154b1c959f | p@chr6:115036832..115036842, + |
| 2.42e-50 | FFCP PHASE2:Hg19::chr1:207105188..207105210,-#_2f1687f5dc6f03ad473ccd154b1c959f | p3@PIGR |
| 2.42e-50 | FFCP PHASE1:Hg19::chr6:115036832..115036842,+#_2f1687f5dc6f03ad473ccd154b1c959f | p@chr6:115036832..115036842, + |
| 2.42e-50 | FFCP PHASE2:Hg19::chrX:11786454..11786465,+#_2f1687f5dc6f03ad473ccd154b1c959f | p25@MSL3 |
| 2.42e-50 | FFCP PHASE1:Hg19::chrX:11786454..11786465,+#_2f1687f5dc6f03ad473ccd154b1c959f | p25@MSL3 |
| 2.42e-50 | FFCP PHASE2:Hg19::chr9:79057008..79057019,+#_2f1687f5dc6f03ad473ccd154b1c959f | p5@GCNT1 |
| 2.42e-50 | FFCP PHASE1:Hg19::chr9:79057008..79057019,+#_2f1687f5dc6f03ad473ccd154b1c959f | p5@GCNT1 |
| 2.42e-50 | FFCP PHASE1:Hg19::chr1:207105188..207105210,-#_2f1687f5dc6f03ad473ccd154b1c959f | p3@PIGR |
| 2.42e-50 | FFCP PHASE2:Hg19::chr14:25495787..25495796,-#_2f1687f5dc6f03ad473ccd154b1c959f | p@chr14:25495787..25495796, - |
| 2.42e-50 | FFCP PHASE2:Hg19::chr2:160779191..160779202,-#_2f1687f5dc6f03ad473ccd154b1c959f | p@chr2:160779191..160779202, - |
| 2.42e-50 | FFCP PHASE1:Hg19::chr2:160779191..160779202,-#_2f1687f5dc6f03ad473ccd154b1c959f | p@chr2:160779191..160779202, - |
| 3.99e-50 | FFCP PHASE2:Hg19::chr17:79213963..79213968,+#_4c7d0e186e27c49f233892804d1a019d | p@chr17:79213963..79213968, + |
| 3.99e-50 | FFCP PHASE2:Hg19::chr15:79310342..79310352,-#_4c7d0e186e27c49f233892804d1a019d | p17@RASGRF1 |
| 3.99e-50 | FFCP PHASE1:Hg19::chr15:79310342..79310352,-#_4c7d0e186e27c49f233892804d1a019d | p17@RASGRF1 |
| 3.99e-50 | FFCP PHASE2:Hg19::chr16:9934872..9934888,-#_4c7d0e186e27c49f233892804d1a019d | p@chr16:9934872..9934888, - |
| 3.99e-50 | FFCP PHASE1:Hg19::chr17:79213963..79213968,+#_4c7d0e186e27c49f233892804d1a019d | p@chr17:79213963..79213968, + |
| 3.99e-50 | FFCP PHASE1:Hg19::chr16:9934872..9934888,-#_4c7d0e186e27c49f233892804d1a019d | p@chr16:9934872..9934888, - |
| 3.99e-50 | FFCP PHASE1:Hg19::chr11:109958732..109958742,-#_4c7d0e186e27c49f233892804d1a019d | p@chr11:109958732..109958742, - |
| 3.99e-50 | FFCP PHASE2:Hg19::chr11:109958732..109958742,-#_4c7d0e186e27c49f233892804d1a019d | p@chr11:109958732..109958742, - |
| 3.99e-50 | FFCP PHASE2:Hg19::chr15:90546643..90546659,+#_4c7d0e186e27c49f233892804d1a019d | p@chr15:90546643..90546659, + |
| 3.99e-50 | FFCP PHASE1:Hg19::chr15:90546643..90546659,+#_4c7d0e186e27c49f233892804d1a019d | p@chr15:90546643..90546659, + |
| 3.99e-50 | FFCP PHASE2:Hg19::chr9:87316933..87316943,+#_4c7d0e186e27c49f233892804d1a019d | p@chr9:87316933..87316943, + |
| 3.99e-50 | FFCP PHASE1:Hg19::chr9:87316933..87316943,+#_4c7d0e186e27c49f233892804d1a019d | p@chr9:87316933..87316943, + |
| 6.58e-50 | FFCP PHASE1:Hg19::chr5:142405106..142405133,+#_08cb672098a5a373aca57697268a2bd2 | p@chr5:142405106..142405133, + |
| 6.58e-50 | FFCP PHASE2:Hg19::chr1:238225731..238225741,+#_08cb672098a5a373aca57697268a2bd2 | p@chr1:238225731..238225741, + |
| 6.58e-50 | FFCP PHASE2:Hg19::chr12:115345793..115345801,+#_08cb672098a5a373aca57697268a2bd2 | p@chr12:115345793..115345801, + |
| 6.58e-50 | FFCP PHASE1:Hg19::chr4:147194614..147194626,+#_08cb672098a5a373aca57697268a2bd2 | p@chr4:147194614..147194626, + |
| 6.58e-50 | FFCP PHASE2:Hg19::chr2:197274224..197274231,-#_08cb672098a5a373aca57697268a2bd2 | p@chr2:197274224..197274231, - |
| 6.58e-50 | FFCP PHASE2:Hg19::chr2:238661800..238661842,+#_08cb672098a5a373aca57697268a2bd2 | p@chr2:238661800..238661842, + |
