DOID:630: Difference between revisions
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|name=genetic disease | |name=genetic disease | ||
|namespace=disease_ontology | |namespace=disease_ontology | ||
|def="A disease that has_material_basis_in genetic variations in the human genome." [url:http | |def="A disease that has_material_basis_in genetic variations in the human genome." [url:http://ghr.nlm.nih.gov/] | ||
|xref=MSH:D030342;;NCI:C3101;;SNOMEDCT_2010_1_31:264530000;;SNOMEDCT_2010_1_31:32895009;;UMLS_CUI:C0019247 | |xref=MSH:D030342;;NCI:C3101;;SNOMEDCT_2010_1_31:264530000;;SNOMEDCT_2010_1_31:32895009;;UMLS_CUI:C0019247 | ||
|is_a=DOID:4 | |is_a=DOID:4 | ||
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|obo_creation_date= | |obo_creation_date= | ||
|subset= | |subset= | ||
|derives_from= | |derives_from= | ||
|develops_from= | |develops_from= | ||
Revision as of 16:33, 26 June 2012
| 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: |
|
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)
- 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:630 (genetic 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,+#_549ffc46e0eb8e1cbc9ccbad31d804cb | p@chr2:25643157..25643159, + |
| 5.42e-195 | FFCP PHASE2:Hg19::chr1:101838740..101838743,+#_549ffc46e0eb8e1cbc9ccbad31d804cb | p@chr1:101838740..101838743, + |
| 5.42e-195 | FFCP PHASE1:Hg19::chr1:101838740..101838743,+#_549ffc46e0eb8e1cbc9ccbad31d804cb | p@chr1:101838740..101838743, + |
| 5.42e-195 | FFCP PHASE2:Hg19::chr1:101914223..101914228,-#_549ffc46e0eb8e1cbc9ccbad31d804cb | p@chr1:101914223..101914228, - |
| 5.42e-195 | FFCP PHASE1:Hg19::chr1:101914223..101914228,-#_549ffc46e0eb8e1cbc9ccbad31d804cb | p@chr1:101914223..101914228, - |
| 5.42e-195 | FFCP PHASE1:Hg19::chr11:33676379..33676397,+#_549ffc46e0eb8e1cbc9ccbad31d804cb | p@chr11:33676379..33676397, + |
| 5.42e-195 | FFCP PHASE2:Hg19::chr11:33676379..33676397,+#_549ffc46e0eb8e1cbc9ccbad31d804cb | p@chr11:33676379..33676397, + |
| 5.42e-195 | FFCP PHASE2:Hg19::chr1:152880744..152880747,+#_549ffc46e0eb8e1cbc9ccbad31d804cb | p3@IVL |
| 5.42e-195 | FFCP PHASE1:Hg19::chr1:152880744..152880747,+#_549ffc46e0eb8e1cbc9ccbad31d804cb | p3@IVL |
| 5.42e-195 | FFCP PHASE2:Hg19::chr2:25643157..25643159,+#_549ffc46e0eb8e1cbc9ccbad31d804cb | p@chr2:25643157..25643159, + |
| 9.37e-99 | FFCP PHASE2:Hg19::chr22:23055632..23055638,+#_47cf86de723fcc37475a0e219a4ddef7 | p3@DQ234400 |
| 9.37e-99 | FFCP PHASE1:Hg19::chr22:23055632..23055638,+#_47cf86de723fcc37475a0e219a4ddef7 | p3@DQ234400 |
| 9.37e-99 | FFCP PHASE2:Hg19::chr4:5364767..5364769,+#_47cf86de723fcc37475a0e219a4ddef7 | p@chr4:5364767..5364769, + |
| 9.37e-99 | FFCP PHASE1:Hg19::chr4:5364767..5364769,+#_47cf86de723fcc37475a0e219a4ddef7 | p@chr4:5364767..5364769, + |
| 9.37e-99 | FFCP PHASE2:Hg19::chr18:67613122..67613129,-#_47cf86de723fcc37475a0e219a4ddef7 | p@chr18:67613122..67613129, - |
| 9.37e-99 | FFCP PHASE1:Hg19::chr18:67613122..67613129,-#_47cf86de723fcc37475a0e219a4ddef7 | p@chr18:67613122..67613129, - |
| 2.55e-98 | FFCP PHASE2:Hg19::chr20:56058449..56058484,+#_33f3eb41adbff553e1051e8b48232418 | p@chr20:56058449..56058484, + |
| 2.55e-98 | FFCP PHASE1:Hg19::chr20:56058449..56058484,+#_33f3eb41adbff553e1051e8b48232418 | p@chr20:56058449..56058484, + |
| 2.55e-98 | FFCP PHASE2:Hg19::chr8:56034458..56034491,+#_33f3eb41adbff553e1051e8b48232418 | p@chr8:56034458..56034491, + |
| 2.55e-98 | FFCP PHASE2:Hg19::chr20:46041421..46041448,-#_33f3eb41adbff553e1051e8b48232418 | p3@ENST00000437920 |
| 2.55e-98 | FFCP PHASE1:Hg19::chr12:50616792..50616804,-#_33f3eb41adbff553e1051e8b48232418 | p29@LIMA1 |
| 2.55e-98 | FFCP PHASE1:Hg19::chr8:56034458..56034491,+#_33f3eb41adbff553e1051e8b48232418 | p@chr8:56034458..56034491, + |
| 2.55e-98 | FFCP PHASE2:Hg19::chr6:115036814..115036827,+#_33f3eb41adbff553e1051e8b48232418 | p@chr6:115036814..115036827, + |
| 2.55e-98 | FFCP PHASE1:Hg19::chr20:46041421..46041448,-#_33f3eb41adbff553e1051e8b48232418 | p3@ENST00000437920 |
| 2.55e-98 | FFCP PHASE1:Hg19::chr6:115036814..115036827,+#_33f3eb41adbff553e1051e8b48232418 | p@chr6:115036814..115036827, + |
| 2.55e-98 | FFCP PHASE1:Hg19::chr11:114997342..114997344,-#_33f3eb41adbff553e1051e8b48232418 | p@chr11:114997342..114997344, - |
| 2.55e-98 | FFCP PHASE2:Hg19::chr13:99573473..99573481,-#_33f3eb41adbff553e1051e8b48232418 | p@chr13:99573473..99573481, - |
| 2.55e-98 | FFCP PHASE2:Hg19::chr11:114997342..114997344,-#_33f3eb41adbff553e1051e8b48232418 | p@chr11:114997342..114997344, - |
| 2.55e-98 | FFCP PHASE2:Hg19::chr2:889109..889122,-#_33f3eb41adbff553e1051e8b48232418 | p@chr2:889109..889122, - |
| 2.55e-98 | FFCP PHASE1:Hg19::chr2:889109..889122,-#_33f3eb41adbff553e1051e8b48232418 | p@chr2:889109..889122, - |
| 2.55e-98 | FFCP PHASE1:Hg19::chr13:99573473..99573481,-#_33f3eb41adbff553e1051e8b48232418 | p@chr13:99573473..99573481, - |
| 2.55e-98 | FFCP PHASE2:Hg19::chr12:50616792..50616804,-#_33f3eb41adbff553e1051e8b48232418 | p29@LIMA1 |
| 2.55e-98 | FFCP PHASE2:Hg19::chr6:166581392..166581398,+#_33f3eb41adbff553e1051e8b48232418 | p@chr6:166581392..166581398, + |
| 2.55e-98 | FFCP PHASE1:Hg19::chr6:166581392..166581398,+#_33f3eb41adbff553e1051e8b48232418 | p@chr6:166581392..166581398, + |
| 2.55e-98 | FFCP PHASE1:Hg19::chr11:2644357..2644369,+#_33f3eb41adbff553e1051e8b48232418 | p@chr11:2644357..2644369, + |
| 2.55e-98 | FFCP PHASE2:Hg19::chr11:2644357..2644369,+#_33f3eb41adbff553e1051e8b48232418 | p@chr11:2644357..2644369, + |
| 1.23e-66 | FFCP PHASE1:Hg19::chr7:70241758..70241770,+#_29a34db624253f6f07beaa40176d86a6 | p47@AUTS2 |
| 1.23e-66 | FFCP PHASE2:Hg19::chr7:70241758..70241770,+#_29a34db624253f6f07beaa40176d86a6 | p47@AUTS2 |
| 2.39e-66 | FFCP PHASE2:Hg19::chr2:70388198..70388245,-#_c2fb6b45ce14db32646e2778b7d02304 | p@chr2:70388198..70388245, - |
| 2.39e-66 | FFCP PHASE1:Hg19::chr2:70388198..70388245,-#_c2fb6b45ce14db32646e2778b7d02304 | p@chr2:70388198..70388245, - |
| 2.39e-66 | FFCP PHASE2:Hg19::chr12:131201475..131201485,-#_c2fb6b45ce14db32646e2778b7d02304 | p@chr12:131201475..131201485, - |
| 2.39e-66 | FFCP PHASE2:Hg19::chr1:207105167..207105184,-#_c2fb6b45ce14db32646e2778b7d02304 | p5@PIGR |
| 2.39e-66 | FFCP PHASE1:Hg19::chr1:207105167..207105184,-#_c2fb6b45ce14db32646e2778b7d02304 | p5@PIGR |
| 2.39e-66 | FFCP PHASE2:Hg19::chr17:76475138..76475154,-#_c2fb6b45ce14db32646e2778b7d02304 | p@chr17:76475138..76475154, - |
| 2.39e-66 | FFCP PHASE1:Hg19::chr12:131201475..131201485,-#_c2fb6b45ce14db32646e2778b7d02304 | p@chr12:131201475..131201485, - |
| 2.39e-66 | FFCP PHASE1:Hg19::chr17:76475138..76475154,-#_c2fb6b45ce14db32646e2778b7d02304 | p@chr17:76475138..76475154, - |
| 4.66e-66 | FFCP PHASE2:Hg19::chr11:109959243..109959256,+#_3d6cb4e637aea354550e9dd905428d97 | p@chr11:109959243..109959256, + |
| 4.66e-66 | FFCP PHASE2:Hg19::chr13:100016406..100016419,+#_3d6cb4e637aea354550e9dd905428d97 | p@chr13:100016406..100016419, + |
| 4.66e-66 | FFCP PHASE1:Hg19::chr13:100016406..100016419,+#_3d6cb4e637aea354550e9dd905428d97 | p@chr13:100016406..100016419, + |
| 4.66e-66 | FFCP PHASE2:Hg19::chr8:142117194..142117210,+#_3d6cb4e637aea354550e9dd905428d97 | p@chr8:142117194..142117210, + |
| 4.66e-66 | FFCP PHASE1:Hg19::chr8:142117194..142117210,+#_3d6cb4e637aea354550e9dd905428d97 | p@chr8:142117194..142117210, + |
| 4.66e-66 | FFCP PHASE1:Hg19::chr11:109959243..109959256,+#_3d6cb4e637aea354550e9dd905428d97 | p@chr11:109959243..109959256, + |
| 1.46e-50 | FFCP PHASE1:Hg19::chr22:39843128..39843135,+#_6beec9f5b5616abe6d521062f36df06c | p@chr22:39843128..39843135, + |
| 1.46e-50 | FFCP PHASE2:Hg19::chr14:75802635..75802649,+#_6beec9f5b5616abe6d521062f36df06c | p@chr14:75802635..75802649, + |
| 1.46e-50 | FFCP PHASE1:Hg19::chr14:75802635..75802649,+#_6beec9f5b5616abe6d521062f36df06c | p@chr14:75802635..75802649, + |
| 1.46e-50 | FFCP PHASE2:Hg19::chr18:56203145..56203154,+#_6beec9f5b5616abe6d521062f36df06c | p@chr18:56203145..56203154, + |
| 1.46e-50 | FFCP PHASE1:Hg19::chr18:56203145..56203154,+#_6beec9f5b5616abe6d521062f36df06c | p@chr18:56203145..56203154, + |
| 1.46e-50 | FFCP PHASE2:Hg19::chr22:39843128..39843135,+#_6beec9f5b5616abe6d521062f36df06c | p@chr22:39843128..39843135, + |
| 2.42e-50 | FFCP PHASE2:Hg19::chr8:6594766..6594776,+#_f01dafb7f7224e104091e29dbf7eb736 | p@chr8:6594766..6594776, + |
| 2.42e-50 | FFCP PHASE1:Hg19::chr8:6594766..6594776,+#_f01dafb7f7224e104091e29dbf7eb736 | p@chr8:6594766..6594776, + |
| 2.42e-50 | FFCP PHASE1:Hg19::chr14:25495787..25495796,-#_f01dafb7f7224e104091e29dbf7eb736 | p@chr14:25495787..25495796, - |
| 2.42e-50 | FFCP PHASE2:Hg19::chr8:135577784..135577795,-#_f01dafb7f7224e104091e29dbf7eb736 | p15@ZFAT |
| 2.42e-50 | FFCP PHASE1:Hg19::chr8:135577784..135577795,-#_f01dafb7f7224e104091e29dbf7eb736 | p15@ZFAT |
| 2.42e-50 | FFCP PHASE2:Hg19::chr15:59665311..59665320,-#_f01dafb7f7224e104091e29dbf7eb736 | p6@MYO1E |
| 2.42e-50 | FFCP PHASE1:Hg19::chr15:59665311..59665320,-#_f01dafb7f7224e104091e29dbf7eb736 | p6@MYO1E |
| 2.42e-50 | FFCP PHASE2:Hg19::chr3:178791955..178791978,-#_f01dafb7f7224e104091e29dbf7eb736 | p@chr3:178791955..178791978, - |
| 2.42e-50 | FFCP PHASE2:Hg19::chr1:98642709..98642713,-#_f01dafb7f7224e104091e29dbf7eb736 | p@chr1:98642709..98642713, - |
| 2.42e-50 | FFCP PHASE1:Hg19::chr3:178791955..178791978,-#_f01dafb7f7224e104091e29dbf7eb736 | p@chr3:178791955..178791978, - |
| 2.42e-50 | FFCP PHASE1:Hg19::chr1:98642709..98642713,-#_f01dafb7f7224e104091e29dbf7eb736 | p@chr1:98642709..98642713, - |
| 2.42e-50 | FFCP PHASE2:Hg19::chr9:35650561..35650570,-#_f01dafb7f7224e104091e29dbf7eb736 | p3@SIT1 |
| 2.42e-50 | FFCP PHASE1:Hg19::chr9:35650561..35650570,-#_f01dafb7f7224e104091e29dbf7eb736 | p3@SIT1 |
| 2.42e-50 | FFCP PHASE2:Hg19::chr6:115036832..115036842,+#_f01dafb7f7224e104091e29dbf7eb736 | p@chr6:115036832..115036842, + |
| 2.42e-50 | FFCP PHASE2:Hg19::chr1:207105188..207105210,-#_f01dafb7f7224e104091e29dbf7eb736 | p3@PIGR |
| 2.42e-50 | FFCP PHASE1:Hg19::chr6:115036832..115036842,+#_f01dafb7f7224e104091e29dbf7eb736 | p@chr6:115036832..115036842, + |
| 2.42e-50 | FFCP PHASE2:Hg19::chrX:11786454..11786465,+#_f01dafb7f7224e104091e29dbf7eb736 | p25@MSL3 |
| 2.42e-50 | FFCP PHASE1:Hg19::chrX:11786454..11786465,+#_f01dafb7f7224e104091e29dbf7eb736 | p25@MSL3 |
| 2.42e-50 | FFCP PHASE2:Hg19::chr9:79057008..79057019,+#_f01dafb7f7224e104091e29dbf7eb736 | p5@GCNT1 |
| 2.42e-50 | FFCP PHASE1:Hg19::chr9:79057008..79057019,+#_f01dafb7f7224e104091e29dbf7eb736 | p5@GCNT1 |
| 2.42e-50 | FFCP PHASE1:Hg19::chr1:207105188..207105210,-#_f01dafb7f7224e104091e29dbf7eb736 | p3@PIGR |
| 2.42e-50 | FFCP PHASE2:Hg19::chr2:160779191..160779202,-#_f01dafb7f7224e104091e29dbf7eb736 | p@chr2:160779191..160779202, - |
| 2.42e-50 | FFCP PHASE2:Hg19::chr14:25495787..25495796,-#_f01dafb7f7224e104091e29dbf7eb736 | p@chr14:25495787..25495796, - |
| 2.42e-50 | FFCP PHASE1:Hg19::chr2:160779191..160779202,-#_f01dafb7f7224e104091e29dbf7eb736 | p@chr2:160779191..160779202, - |
| 3.99e-50 | FFCP PHASE2:Hg19::chr17:79213963..79213968,+#_1cce4c0f0a4a803360d7604b612780bf | p@chr17:79213963..79213968, + |
| 3.99e-50 | FFCP PHASE2:Hg19::chr15:79310342..79310352,-#_1cce4c0f0a4a803360d7604b612780bf | p17@RASGRF1 |
| 3.99e-50 | FFCP PHASE1:Hg19::chr15:79310342..79310352,-#_1cce4c0f0a4a803360d7604b612780bf | p17@RASGRF1 |
| 3.99e-50 | FFCP PHASE2:Hg19::chr16:9934872..9934888,-#_1cce4c0f0a4a803360d7604b612780bf | p@chr16:9934872..9934888, - |
| 3.99e-50 | FFCP PHASE1:Hg19::chr17:79213963..79213968,+#_1cce4c0f0a4a803360d7604b612780bf | p@chr17:79213963..79213968, + |
| 3.99e-50 | FFCP PHASE1:Hg19::chr16:9934872..9934888,-#_1cce4c0f0a4a803360d7604b612780bf | p@chr16:9934872..9934888, - |
| 3.99e-50 | FFCP PHASE1:Hg19::chr11:109958732..109958742,-#_1cce4c0f0a4a803360d7604b612780bf | p@chr11:109958732..109958742, - |
| 3.99e-50 | FFCP PHASE2:Hg19::chr11:109958732..109958742,-#_1cce4c0f0a4a803360d7604b612780bf | p@chr11:109958732..109958742, - |
| 3.99e-50 | FFCP PHASE2:Hg19::chr15:90546643..90546659,+#_1cce4c0f0a4a803360d7604b612780bf | p@chr15:90546643..90546659, + |
| 3.99e-50 | FFCP PHASE1:Hg19::chr15:90546643..90546659,+#_1cce4c0f0a4a803360d7604b612780bf | p@chr15:90546643..90546659, + |
| 3.99e-50 | FFCP PHASE2:Hg19::chr9:87316933..87316943,+#_1cce4c0f0a4a803360d7604b612780bf | p@chr9:87316933..87316943, + |
| 3.99e-50 | FFCP PHASE1:Hg19::chr9:87316933..87316943,+#_1cce4c0f0a4a803360d7604b612780bf | p@chr9:87316933..87316943, + |
| 6.58e-50 | FFCP PHASE1:Hg19::chr5:142405106..142405133,+#_66d4926f9b70b189f2a450e3864175b5 | p@chr5:142405106..142405133, + |
| 6.58e-50 | FFCP PHASE2:Hg19::chr1:238225731..238225741,+#_66d4926f9b70b189f2a450e3864175b5 | p@chr1:238225731..238225741, + |
| 6.58e-50 | FFCP PHASE2:Hg19::chr12:115345793..115345801,+#_66d4926f9b70b189f2a450e3864175b5 | p@chr12:115345793..115345801, + |
| 6.58e-50 | FFCP PHASE1:Hg19::chr4:147194614..147194626,+#_66d4926f9b70b189f2a450e3864175b5 | p@chr4:147194614..147194626, + |
| 6.58e-50 | FFCP PHASE2:Hg19::chr2:197274224..197274231,-#_66d4926f9b70b189f2a450e3864175b5 | p@chr2:197274224..197274231, - |
| 6.58e-50 | FFCP PHASE2:Hg19::chr2:238661800..238661842,+#_66d4926f9b70b189f2a450e3864175b5 | p@chr2:238661800..238661842, + |
