DOID:630

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

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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

... 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

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P-value	FFCP	Short description

P-value	FFCP	Short description
5.42e-195	FFCP PHASE1:Hg19::chr1:101838740..101838743,+	p@chr1:101838740..101838743, +
5.42e-195	FFCP PHASE2:Hg19::chr1:101914223..101914228,-	p@chr1:101914223..101914228, -
5.42e-195	FFCP PHASE1:Hg19::chr1:101914223..101914228,-	p@chr1:101914223..101914228, -
5.42e-195	FFCP PHASE2:Hg19::chr11:33676379..33676397,+	p@chr11:33676379..33676397, +
5.42e-195	FFCP PHASE1:Hg19::chr11:33676379..33676397,+	p@chr11:33676379..33676397, +
5.42e-195	FFCP PHASE2:Hg19::chr1:152880744..152880747,+	p3@IVL
5.42e-195	FFCP PHASE1:Hg19::chr1:152880744..152880747,+	p3@IVL
5.42e-195	FFCP PHASE2:Hg19::chr2:25643157..25643159,+	p@chr2:25643157..25643159, +
5.42e-195	FFCP PHASE1:Hg19::chr2:25643157..25643159,+	p@chr2:25643157..25643159, +
5.42e-195	FFCP PHASE2:Hg19::chr1:101838740..101838743,+	p@chr1:101838740..101838743, +
9.37e-99	FFCP PHASE2:Hg19::chr22:23055632..23055638,+	p3@DQ234400
9.37e-99	FFCP PHASE1:Hg19::chr22:23055632..23055638,+	p3@DQ234400
9.37e-99	FFCP PHASE2:Hg19::chr4:5364767..5364769,+	p@chr4:5364767..5364769, +
9.37e-99	FFCP PHASE1:Hg19::chr4:5364767..5364769,+	p@chr4:5364767..5364769, +
9.37e-99	FFCP PHASE2:Hg19::chr18:67613122..67613129,-	p@chr18:67613122..67613129, -
9.37e-99	FFCP PHASE1:Hg19::chr18:67613122..67613129,-	p@chr18:67613122..67613129, -
2.55e-98	FFCP PHASE1:Hg19::chr11:2644357..2644369,+	p@chr11:2644357..2644369, +
2.55e-98	FFCP PHASE2:Hg19::chr8:56034458..56034491,+	p@chr8:56034458..56034491, +
2.55e-98	FFCP PHASE2:Hg19::chr20:46041421..46041448,-	p3@ENST00000437920
2.55e-98	FFCP PHASE1:Hg19::chr8:56034458..56034491,+	p@chr8:56034458..56034491, +
2.55e-98	FFCP PHASE2:Hg19::chr6:115036814..115036827,+	p@chr6:115036814..115036827, +
2.55e-98	FFCP PHASE1:Hg19::chr20:46041421..46041448,-	p3@ENST00000437920
2.55e-98	FFCP PHASE1:Hg19::chr6:115036814..115036827,+	p@chr6:115036814..115036827, +
2.55e-98	FFCP PHASE2:Hg19::chr13:99573473..99573481,-	p@chr13:99573473..99573481, -
2.55e-98	FFCP PHASE2:Hg19::chr11:114997342..114997344,-	p@chr11:114997342..114997344, -
2.55e-98	FFCP PHASE2:Hg19::chr2:889109..889122,-	p@chr2:889109..889122, -
2.55e-98	FFCP PHASE1:Hg19::chr2:889109..889122,-	p@chr2:889109..889122, -
2.55e-98	FFCP PHASE1:Hg19::chr13:99573473..99573481,-	p@chr13:99573473..99573481, -
2.55e-98	FFCP PHASE1:Hg19::chr12:50616792..50616804,-	p29@LIMA1
2.55e-98	FFCP PHASE2:Hg19::chr12:50616792..50616804,-	p29@LIMA1
2.55e-98	FFCP PHASE2:Hg19::chr6:166581392..166581398,+	p@chr6:166581392..166581398, +
2.55e-98	FFCP PHASE1:Hg19::chr6:166581392..166581398,+	p@chr6:166581392..166581398, +
2.55e-98	FFCP PHASE1:Hg19::chr11:114997342..114997344,-	p@chr11:114997342..114997344, -
2.55e-98	FFCP PHASE2:Hg19::chr11:2644357..2644369,+	p@chr11:2644357..2644369, +
2.55e-98	FFCP PHASE2:Hg19::chr20:56058449..56058484,+	p@chr20:56058449..56058484, +
2.55e-98	FFCP PHASE1:Hg19::chr20:56058449..56058484,+	p@chr20:56058449..56058484, +
1.23e-66	FFCP PHASE2:Hg19::chr7:70241758..70241770,+	p47@AUTS2
1.23e-66	FFCP PHASE1:Hg19::chr7:70241758..70241770,+	p47@AUTS2
2.39e-66	FFCP PHASE2:Hg19::chr1:207105167..207105184,-	p5@PIGR
2.39e-66	FFCP PHASE1:Hg19::chr1:207105167..207105184,-	p5@PIGR
2.39e-66	FFCP PHASE2:Hg19::chr17:76475138..76475154,-	p@chr17:76475138..76475154, -
2.39e-66	FFCP PHASE1:Hg19::chr17:76475138..76475154,-	p@chr17:76475138..76475154, -
2.39e-66	FFCP PHASE2:Hg19::chr2:70388198..70388245,-	p@chr2:70388198..70388245, -
2.39e-66	FFCP PHASE1:Hg19::chr2:70388198..70388245,-	p@chr2:70388198..70388245, -
2.39e-66	FFCP PHASE1:Hg19::chr12:131201475..131201485,-	p@chr12:131201475..131201485, -
2.39e-66	FFCP PHASE2:Hg19::chr12:131201475..131201485,-	p@chr12:131201475..131201485, -
4.66e-66	FFCP PHASE1:Hg19::chr11:109959243..109959256,+	p@chr11:109959243..109959256, +
4.66e-66	FFCP PHASE2:Hg19::chr13:100016406..100016419,+	p@chr13:100016406..100016419, +
4.66e-66	FFCP PHASE1:Hg19::chr13:100016406..100016419,+	p@chr13:100016406..100016419, +
4.66e-66	FFCP PHASE2:Hg19::chr8:142117194..142117210,+	p@chr8:142117194..142117210, +
4.66e-66	FFCP PHASE1:Hg19::chr8:142117194..142117210,+	p@chr8:142117194..142117210, +
4.66e-66	FFCP PHASE2:Hg19::chr11:109959243..109959256,+	p@chr11:109959243..109959256, +
1.46e-50	FFCP PHASE2:Hg19::chr18:56203145..56203154,+	p@chr18:56203145..56203154, +
1.46e-50	FFCP PHASE1:Hg19::chr18:56203145..56203154,+	p@chr18:56203145..56203154, +
1.46e-50	FFCP PHASE2:Hg19::chr22:39843128..39843135,+	p@chr22:39843128..39843135, +
1.46e-50	FFCP PHASE1:Hg19::chr22:39843128..39843135,+	p@chr22:39843128..39843135, +
1.46e-50	FFCP PHASE2:Hg19::chr14:75802635..75802649,+	p@chr14:75802635..75802649, +
1.46e-50	FFCP PHASE1:Hg19::chr14:75802635..75802649,+	p@chr14:75802635..75802649, +
2.42e-50	FFCP PHASE2:Hg19::chr15:59665311..59665320,-	p6@MYO1E
2.42e-50	FFCP PHASE1:Hg19::chr15:59665311..59665320,-	p6@MYO1E
2.42e-50	FFCP PHASE2:Hg19::chr3:178791955..178791978,-	p@chr3:178791955..178791978, -
2.42e-50	FFCP PHASE2:Hg19::chr1:98642709..98642713,-	p@chr1:98642709..98642713, -
2.42e-50	FFCP PHASE1:Hg19::chr3:178791955..178791978,-	p@chr3:178791955..178791978, -
2.42e-50	FFCP PHASE1:Hg19::chr1:98642709..98642713,-	p@chr1:98642709..98642713, -
2.42e-50	FFCP PHASE2:Hg19::chr9:35650561..35650570,-	p3@SIT1
2.42e-50	FFCP PHASE1:Hg19::chr9:35650561..35650570,-	p3@SIT1
2.42e-50	FFCP PHASE2:Hg19::chr6:115036832..115036842,+	p@chr6:115036832..115036842, +
2.42e-50	FFCP PHASE2:Hg19::chr1:207105188..207105210,-	p3@PIGR
2.42e-50	FFCP PHASE1:Hg19::chr6:115036832..115036842,+	p@chr6:115036832..115036842, +
2.42e-50	FFCP PHASE2:Hg19::chrX:11786454..11786465,+	p25@MSL3
2.42e-50	FFCP PHASE1:Hg19::chrX:11786454..11786465,+	p25@MSL3
2.42e-50	FFCP PHASE2:Hg19::chr9:79057008..79057019,+	p5@GCNT1
2.42e-50	FFCP PHASE1:Hg19::chr9:79057008..79057019,+	p5@GCNT1
2.42e-50	FFCP PHASE1:Hg19::chr1:207105188..207105210,-	p3@PIGR
2.42e-50	FFCP PHASE2:Hg19::chr14:25495787..25495796,-	p@chr14:25495787..25495796, -
2.42e-50	FFCP PHASE2:Hg19::chr2:160779191..160779202,-	p@chr2:160779191..160779202, -
2.42e-50	FFCP PHASE1:Hg19::chr2:160779191..160779202,-	p@chr2:160779191..160779202, -
2.42e-50	FFCP PHASE2:Hg19::chr8:6594766..6594776,+	p@chr8:6594766..6594776, +
2.42e-50	FFCP PHASE1:Hg19::chr8:6594766..6594776,+	p@chr8:6594766..6594776, +
2.42e-50	FFCP PHASE1:Hg19::chr14:25495787..25495796,-	p@chr14:25495787..25495796, -
2.42e-50	FFCP PHASE2:Hg19::chr8:135577784..135577795,-	p15@ZFAT
2.42e-50	FFCP PHASE1:Hg19::chr8:135577784..135577795,-	p15@ZFAT
3.99e-50	FFCP PHASE1:Hg19::chr15:79310342..79310352,-	p17@RASGRF1
3.99e-50	FFCP PHASE2:Hg19::chr16:9934872..9934888,-	p@chr16:9934872..9934888, -
3.99e-50	FFCP PHASE1:Hg19::chr17:79213963..79213968,+	p@chr17:79213963..79213968, +
3.99e-50	FFCP PHASE1:Hg19::chr16:9934872..9934888,-	p@chr16:9934872..9934888, -
3.99e-50	FFCP PHASE2:Hg19::chr11:109958732..109958742,-	p@chr11:109958732..109958742, -
3.99e-50	FFCP PHASE1:Hg19::chr11:109958732..109958742,-	p@chr11:109958732..109958742, -
3.99e-50	FFCP PHASE2:Hg19::chr15:90546643..90546659,+	p@chr15:90546643..90546659, +
3.99e-50	FFCP PHASE1:Hg19::chr15:90546643..90546659,+	p@chr15:90546643..90546659, +
3.99e-50	FFCP PHASE2:Hg19::chr9:87316933..87316943,+	p@chr9:87316933..87316943, +
3.99e-50	FFCP PHASE1:Hg19::chr9:87316933..87316943,+	p@chr9:87316933..87316943, +
3.99e-50	FFCP PHASE2:Hg19::chr17:79213963..79213968,+	p@chr17:79213963..79213968, +
3.99e-50	FFCP PHASE2:Hg19::chr15:79310342..79310352,-	p17@RASGRF1
6.58e-50	FFCP PHASE2:Hg19::chr2:197274224..197274231,-	p@chr2:197274224..197274231, -
6.58e-50	FFCP PHASE2:Hg19::chr2:238661800..238661842,+	p@chr2:238661800..238661842, +
6.58e-50	FFCP PHASE1:Hg19::chr2:197274224..197274231,-	p@chr2:197274224..197274231, -
6.58e-50	FFCP PHASE1:Hg19::chr1:238225731..238225741,+	p@chr1:238225731..238225741, +
6.58e-50	FFCP PHASE1:Hg19::chr12:45820291..45820337,-	p@chr12:45820291..45820337, -
6.58e-50	FFCP PHASE2:Hg19::chr12:45820291..45820337,-	p@chr12:45820291..45820337, -

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