PedAM

Pediatric Disease Annotations & Medicines


	rectal disease

Disease ID	1593
Disease	rectal disease
Definition	Pathological developments in the RECTUM region of the large intestine (INTESTINE, LARGE).
Synonym	disease of rectum disease of rectum (disorder) disease of rectum, nos disease rectum diseases rectal diseases rectum disorder of rectum disorder of rectum (disorder) disorder rectal disorders rectal rectal dis rectal diseases rectal diseases [disease/finding] rectal disorder rectal disorder, nos rectal disorders rectum rectum disease rectum--diseases
DOID	DOID:1285
UMLS	C0034882
MeSH	D012002 D012007
SNOMED-CT	SNOMEDCT_US_2016_09_01:5964004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:3) C0019112 \| hemorrhoids \| 1 C0019204 \| hepatocellular carcinoma \| 1 C0019204 \| hepatocellular carcinomas \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:138) 1080 \| CFTR \| DISEASES 5166 \| PDK4 \| DISEASES 608 \| TNFRSF17 \| DISEASES 54474 \| KRT20 \| DISEASES 6793 \| STK10 \| DISEASES 6948 \| TCN2 \| DISEASES 26499 \| PLEK2 \| DISEASES 27344 \| PCSK1N \| DISEASES 973 \| CD79A \| DISEASES 1048 \| CEACAM5 \| DISEASES 657 \| BMPR1A \| DISEASES 4353 \| MPO \| DISEASES 51561 \| IL23A \| DISEASES 56920 \| SEMA3G \| DISEASES 80306 \| MED28 \| DISEASES 9479 \| MAPK8IP1 \| DISEASES 3598 \| IL13RA2 \| DISEASES 6431 \| SRSF6 \| DISEASES 1088 \| CEACAM8 \| DISEASES 6555 \| SLC10A2 \| DISEASES 8189 \| SYMPK \| DISEASES 2867 \| FFAR2 \| DISEASES 968 \| CD68 \| DISEASES 2161 \| F12 \| DISEASES 3337 \| DNAJB1 \| DISEASES 1401 \| CRP \| DISEASES 56923 \| NMUR2 \| DISEASES 57498 \| KIDINS220 \| DISEASES 29969 \| MDFIC \| DISEASES 3569 \| IL6 \| DISEASES 27348 \| TOR1B \| DISEASES 10858 \| CYP46A1 \| DISEASES 25939 \| SAMHD1 \| DISEASES 3553 \| IL1B \| DISEASES 3938 \| LCT \| DISEASES 4811 \| NID1 \| DISEASES 1421 \| CRYGD \| DISEASES 2255 \| FGF10 \| DISEASES 6550 \| SLC9A3 \| DISEASES 6585 \| SLIT1 \| DISEASES 8477 \| GPR65 \| DISEASES 54808 \| DYM \| DISEASES 167410 \| LIX1 \| DISEASES 4863 \| NPAT \| DISEASES 5531 \| PPP4C \| DISEASES 126731 \| CCSAP \| DISEASES 160622 \| GRASP \| DISEASES 152185 \| SPICE1 \| DISEASES 213 \| ALB \| DISEASES 7123 \| CLEC3B \| DISEASES 27242 \| TNFRSF21 \| DISEASES 6632 \| SNRPD1 \| DISEASES 64127 \| NOD2 \| DISEASES 29123 \| ANKRD11 \| DISEASES 6037 \| RNASE3 \| DISEASES 143501 \| C11orf40 \| DISEASES 140738 \| TMEM37 \| DISEASES 1281 \| COL3A1 \| DISEASES 118429 \| ANTXR2 \| DISEASES 51327 \| AHSP \| DISEASES 10474 \| TADA3 \| DISEASES 30008 \| EFEMP2 \| DISEASES 5029 \| P2RY2 \| DISEASES 1240 \| CMKLR1 \| DISEASES 404217 \| CTXN1 \| DISEASES 354 \| KLK3 \| DISEASES 65059 \| RAPH1 \| DISEASES 2828 \| GPR4 \| DISEASES 923 \| CD6 \| DISEASES 7481 \| WNT11 \| DISEASES 3052 \| HCCS \| DISEASES 2865 \| FFAR3 \| DISEASES 9735 \| KNTC1 \| DISEASES 3855 \| KRT7 \| DISEASES 23542 \| MAPK8IP2 \| DISEASES 2192 \| FBLN1 \| DISEASES 4987 \| OPRL1 \| DISEASES 51339 \| DACT1 \| DISEASES 4842 \| NOS1 \| DISEASES 11188 \| NISCH \| DISEASES 23136 \| EPB41L3 \| DISEASES 10516 \| FBLN5 \| DISEASES 92737 \| DNER \| DISEASES 6334 \| SCN8A \| DISEASES 2202 \| EFEMP1 \| DISEASES 10507 \| SEMA4D \| DISEASES 8794 \| TNFRSF10C \| DISEASES 83658 \| DYNLRB1 \| DISEASES 9760 \| TOX \| DISEASES 117289 \| TAGAP \| DISEASES 6993 \| DYNLT1 \| DISEASES 1118 \| CHIT1 \| DISEASES 5996 \| RGS1 \| DISEASES 1660 \| DHX9 \| DISEASES 3068 \| HDGF \| DISEASES 103 \| ADAR \| DISEASES 117145 \| THEM4 \| DISEASES 2316 \| FLNA \| DISEASES 60495 \| HPSE2 \| DISEASES 959 \| CD40LG \| DISEASES 51060 \| TXNDC12 \| DISEASES 7422 \| VEGFA \| DISEASES 5328 \| PLAU \| DISEASES 79009 \| DDX50 \| DISEASES 6572 \| SLC18A3 \| DISEASES 3014 \| H2AFX \| DISEASES 3055 \| HCK \| DISEASES 765 \| CA6 \| DISEASES 1906 \| EDN1 \| DISEASES 10300 \| KATNB1 \| DISEASES 158326 \| FREM1 \| DISEASES 415 \| ARSE \| DISEASES 438 \| ASMT \| DISEASES 10333 \| TLR6 \| DISEASES 5799 \| PTPRN2 \| DISEASES 11009 \| IL24 \| DISEASES 6046 \| BRD2 \| DISEASES 23475 \| QPRT \| DISEASES 2628 \| GATM \| DISEASES 7124 \| TNF \| DISEASES 139728 \| PNCK \| DISEASES 54900 \| LAX1 \| DISEASES 63924 \| CIDEC \| DISEASES 3586 \| IL10 \| DISEASES 79012 \| CAMKV \| DISEASES 80012 \| PHC3 \| DISEASES 5542 \| PRB1 \| DISEASES 285782 \| CAGE1 \| DISEASES 6586 \| SLIT3 \| DISEASES 8111 \| GPR68 \| DISEASES 10978 \| CLP1 \| DISEASES 6207 \| RPS13 \| DISEASES 55733 \| HHAT \| DISEASES 11153 \| FICD \| DISEASES 56342 \| PPAN \| DISEASES 820 \| CAMP \| DISEASES 102723508 \| KANTR \| DISEASES 440900 \| LINC01191 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1593
Disease	rectal disease
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:4) HP:0000989 \| pruritis \| 1 HP:0012531 \| Pain \| 1 HP:0001402 \| Hepatocellular carcinoma \| 1 HP:0002607 \| Anal incontinence \| 1

Disease ID	1593
Disease	rectal disease
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:19)
CHR	POS	SNPID	REF	ALT	ORI_SNPID	PMID	P_VALUE	P_VALUE_TEXT	OR/BETA	CI95_TEXT	GWAS_INITIAL_SAMPLE_SIZE	SUB_POPULATION	SUPER_POPULATION	GWAS_TRAIT	HPO_ID	HPO_TERM	DO_ID	DO_TERM	MESH_ID	MESH_TERM	EFO_ID	EFO_TERM	DOLITE_TERM	RISK_ALLELE	PUBLICATION_TYPE	AA	GENE_SYMBOL	TYPE	REFGENE
1	76617830	rs2706183	G	A	rs2706183	23719583	7.80E-05	Recessive	4.5	[1.20-16.70]	79 cases; 241 controls	NOPOP(320)	ALL(320)	NOPOP(320)	ALL(320)	Adverse response to radiation therapy	HPOID:0002584	Intestinal bleeding	DOID:1285	rectal disease	NA	NA	response to radiation	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, U.S. Gov't, Non-P.H.S.	G
1	195376972	rs6702266	C	T	rs6702266	23719583	1.00E-04	Recessive	1.7	[0.90-1.40]	79 cases; 241 controls	NOPOP(320)	ALL(320)	NOPOP(320)	ALL(320)	Adverse response to radiation therapy	HPOID:0002584	Intestinal bleeding	DOID:1285	rectal disease	NA	NA	response to radiation	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, U.S. Gov't, Non-P.H.S.	C
4	138134581	rs10519410	A	G	rs10519410	23719583	1.00E-06	NA	1.5	[1.00-2.30]	79 cases; 241 controls	NOPOP(320)	ALL(320)	NOPOP(320)	ALL(320)	Adverse response to radiation therapy	HPOID:0002584	Intestinal bleeding	DOID:1285	rectal disease	NA	NA	response to radiation	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, U.S. Gov't, Non-P.H.S.	C
4	141551608	rs7698088	A	G	rs7698088	23719583	8.80E-05	Additive	1.4	[1.00-1.80]	79 cases; 241 controls	NOPOP(320)	ALL(320)	NOPOP(320)	ALL(320)	Adverse response to radiation therapy	HPOID:0002584	Intestinal bleeding	DOID:1285	rectal disease	NA	NA	response to radiation	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, U.S. Gov't, Non-P.H.S.	G
6	16949970	rs6459495	T	G	rs6459495	23719583	4.00E-04	Recessive	1.9	[1.00-3.80]	79 cases; 241 controls	NOPOP(320)	ALL(320)	NOPOP(320)	ALL(320)	Adverse response to radiation therapy	HPOID:0002584	Intestinal bleeding	DOID:1285	rectal disease	NA	NA	response to radiation	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, U.S. Gov't, Non-P.H.S.	G
7	97017795	rs10255878	G	A	rs10255878	23719583	4.00E-06	NA	5.2	[1.90-14.50]	79 cases; 241 controls	NOPOP(320)	ALL(320)	NOPOP(320)	ALL(320)	Adverse response to radiation therapy	HPOID:0002584	Intestinal bleeding	DOID:1285	rectal disease	NA	NA	response to radiation	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, U.S. Gov't, Non-P.H.S.	A
8	26444116	rs327236	C	T	rs327236	23719583	5.00E-04	Dominant	1.4	[0.90-2.10]	79 cases; 241 controls	NOPOP(320)	ALL(320)	NOPOP(320)	ALL(320)	Adverse response to radiation therapy	HPOID:0002584	Intestinal bleeding	DOID:1285	rectal disease	NA	NA	response to radiation	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, U.S. Gov't, Non-P.H.S.	G
9	6395540	rs7850497	A	T	rs7850497	23719583	2.00E-04	Additive	1.3	[1.00-1.70]	79 cases; 241 controls	NOPOP(320)	ALL(320)	NOPOP(320)	ALL(320)	Adverse response to radiation therapy	HPOID:0002584	Intestinal bleeding	DOID:1285	rectal disease	NA	NA	response to radiation	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, U.S. Gov't, Non-P.H.S.	A
10	67640402	rs4578268	T	C	rs4578268	23719583	3.00E-04	Dominant	1.4	[1.00-2.20]	79 cases; 241 controls	NOPOP(320)	ALL(320)	NOPOP(320)	ALL(320)	Adverse response to radiation therapy	HPOID:0002584	Intestinal bleeding	DOID:1285	rectal disease	NA	NA	response to radiation	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, U.S. Gov't, Non-P.H.S.	C
11	92792100	rs7120482	G	A	rs7120482	23719583	5.00E-08	NA	3.1	[1.70-5.60]	79 cases; 241 controls	NOPOP(320)	ALL(320)	NOPOP(320)	ALL(320)	Adverse response to radiation therapy	HPOID:0002584	Intestinal bleeding	DOID:1285	rectal disease	NA	NA	response to radiation	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, U.S. Gov't, Non-P.H.S.	G
11	92795212	rs17630638	C	T	rs17630638	23719583	6.90E-07	Recessive	2.9	[1.60-5.20]	79 cases; 241 controls	NOPOP(320)	ALL(320)	NOPOP(320)	ALL(320)	Adverse response to radiation therapy	HPOID:0002584	Intestinal bleeding	DOID:1285	rectal disease	NA	NA	response to radiation	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, U.S. Gov't, Non-P.H.S.	C
11	122926127	rs7111590	C	G	rs7111590	23719583	4.00E-04	Additive	1.4	[0.90-2.20]	79 cases; 241 controls	NOPOP(320)	ALL(320)	NOPOP(320)	ALL(320)	Adverse response to radiation therapy	HPOID:0002584	Intestinal bleeding	DOID:1285	rectal disease	NA	NA	response to radiation	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, U.S. Gov't, Non-P.H.S.	G
11	122926146	rs7111598	C	T	rs7111598	23719583	2.00E-04	Additive	1.5	[1.00-2.20]	79 cases; 241 controls	NOPOP(320)	ALL(320)	NOPOP(320)	ALL(320)	Adverse response to radiation therapy	HPOID:0002584	Intestinal bleeding	DOID:1285	rectal disease	NA	NA	response to radiation	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, U.S. Gov't, Non-P.H.S.	C
13	93662235	rs160141	T	C	rs160141	23719583	1.00E-04	Dominant	1.8	[1.10-1.40]	79 cases; 241 controls	NOPOP(320)	ALL(320)	NOPOP(320)	ALL(320)	Adverse response to radiation therapy	HPOID:0002584	Intestinal bleeding	DOID:1285	rectal disease	NA	NA	response to radiation	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, U.S. Gov't, Non-P.H.S.	T
14	34023334	rs12586912	G	T	rs12586912	23719583	2.00E-04	Additive	1.3	[1.00-1.70]	79 cases; 241 controls	NOPOP(320)	ALL(320)	NOPOP(320)	ALL(320)	Adverse response to radiation therapy	HPOID:0002584	Intestinal bleeding	DOID:1285	rectal disease	NA	NA	response to radiation	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, U.S. Gov't, Non-P.H.S.	G
14	89591394	rs4904509	T	C	rs4904509	23719583	2.00E-04	Dominant	1.5	[1.00-2.20]	79 cases; 241 controls	NOPOP(320)	ALL(320)	NOPOP(320)	ALL(320)	Adverse response to radiation therapy	HPOID:0002584	Intestinal bleeding	DOID:1285	rectal disease	NA	NA	response to radiation	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, U.S. Gov't, Non-P.H.S.	C
16	79020532	rs4888901	T	G	rs4888901	23719583	1.00E-04	Additive	1.6	[1.00-2.60]	79 cases; 241 controls	NOPOP(320)	ALL(320)	NOPOP(320)	ALL(320)	Adverse response to radiation therapy	HPOID:0002584	Intestinal bleeding	DOID:1285	rectal disease	NA	NA	response to radiation	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, U.S. Gov't, Non-P.H.S.	T
17	70947492	rs4969040	A	G	rs4969040	23719583	5.00E-05	Dominant	1.7	[1.10-2.70]	79 cases; 241 controls	NOPOP(320)	ALL(320)	NOPOP(320)	ALL(320)	Adverse response to radiation therapy	HPOID:0002584	Intestinal bleeding	DOID:1285	rectal disease	NA	NA	response to radiation	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, U.S. Gov't, Non-P.H.S.	A
17	74914941	rs16969506	A	G	rs16969506	23719583	1.00E-04	Dominant	1.5	[1.00-2.30]	79 cases; 241 controls	NOPOP(320)	ALL(320)	NOPOP(320)	ALL(320)	Adverse response to radiation therapy	HPOID:0002584	Intestinal bleeding	DOID:1285	rectal disease	NA	NA	response to radiation	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, U.S. Gov't, Non-P.H.S.	A

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0034882	carbenicillin	D002228	4697-36-3	rectal diseases	MESH:D012002	therapeutic	4850936

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)