PedAM

Pediatric Disease Annotations & Medicines


	adenomatous polyposis coli

Disease ID	119
Disease	adenomatous polyposis coli
Definition	A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood.
Synonym	[m]adenomatous polyposis coli [m]familial polyposis coli adenomatous coli polyposis adenomatous polyposes, familial adenomatous polyposis adenomatous polyposis coli (morphologic abnormality) adenomatous polyposis coli [disease/finding] adenomatous polyposis coli, familial adenomatous polyposis colus adenomatous polyposis of the colon adenomatous polyposis, familial apc - adenomatous polyposis coli coli, adenomatous polyposis coli, familial polyposis coli, hereditary polyposis coli, polyposis colon, polyposis, familial adenomatous colus, adenomatous polyposis colus, familial polyposis colus, hereditary polyposis colus, polyposis familial adenomatous polyposes familial adenomatous polyposis familial adenomatous polyposis (apc) familial adenomatous polyposis 1 familial adenomatous polyposis coli familial adenomatous polyposis of the colon familial adenomatous polyposis syndrome familial intestinal polyposis familial multiple polyposes familial multiple polyposi familial multiple polyposis familial multiple polyposis syndrome familial multiple polyposis syndrome (disorder) familial multiple polyposus familial polyposis familial polyposis coli familial polyposis colus familial polyposis of the colon familial polyposis syndrome familial polyposis syndromes fap fap (familial adenomatous polyposis) fap - familial adenomatous polyposis fap1 fpc fpc - familial polyposis coli hereditary adenomatous polyposis coli hereditary polyposis coli hereditary polyposis colus map - myh associated polyposis multiple polyposes, familial multiple polyposi, familial multiple polyposis, familial multiple polyposus, familial myh associated polyposis myh-associated polyposes myh-associated polyposis myh-associated polyposis (disorder) polyposes, familial adenomatous polyposes, familial multiple polyposes, myh-associated polyposi, familial multiple polyposis coli polyposis coli, adenomatous polyposis coli, familial polyposis coli, hereditary polyposis colus polyposis colus, adenomatous polyposis colus, familial polyposis colus, hereditary polyposis familial polyposis syndrome, familial polyposis, familial adenomatous polyposis, familial multiple polyposis, myh-associated polyposus, familial multiple
Orphanet	ORPHANET:733
OMIM	OMIM:175100 OMIM:600403 OMIM:600267
DOID	DOID:0050424
UMLS	C0032580
MeSH	D011125
SNOMED-CT	SNOMEDCT_US_2016_09_01:72900001;SNOMEDCT_US_2016_09_01:423471004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:10) C0032580 \| familial adenomatous polyposis \| 2 C0850572 \| colonic adenoma \| 1 C0032580 \| adenomatous polyposis \| 1 C0206669 \| hepatocellular adenoma \| 1 C0151311 \| cranial nerve palsy \| 1 C0004352 \| autism \| 1 C0027092 \| myopia \| 1 C0001430 \| adenoma \| 1 C0023646 \| lichen planus \| 1 C0007102 \| colon cancer \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:12) SOD2 \| 6648 \| CTD_human PTGS2 \| 5743 \| CTD_human AKT1 \| 207 \| CTD_human FMO3 \| 2328 \| CTD_human APC \| 324 \| CLINVAR;CTD_human;UNIPROT;ORPHANET;GHR GREM1 \| 26585 \| CTD_human MUTYH \| 4595 \| CTD_human;GHR MCC \| 4163 \| CTD_human PTPN13 \| 5783 \| OMIM CYP26A1 \| 1592 \| CTD_human FAP \| 2191 \| OMIM NTHL1 \| 4913 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:10) 324 \| APC \| infer 4619 \| MYH1 \| infer 328 \| APEX1 \| infer 4436 \| MSH2 \| infer 2956 \| MSH6 \| infer 4595 \| MUTYH \| infer 4521 \| NUDT1 \| infer 4968 \| OGG1 \| infer 1636 \| ACE \| infer 5320 \| PLA2G2A \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:180) 1015 \| CDH17 \| DISEASES 479 \| ATP12A \| DISEASES 4913 \| NTHL1 \| DISEASES 7038 \| TG \| DISEASES 6422 \| SFRP1 \| DISEASES 1048 \| CEACAM5 \| DISEASES 657 \| BMPR1A \| DISEASES 595 \| CCND1 \| DISEASES 1839 \| HBEGF \| DISEASES 4292 \| MLH1 \| DISEASES 4436 \| MSH2 \| DISEASES 10297 \| APC2 \| DISEASES 4953 \| ODC1 \| DISEASES 2956 \| MSH6 \| DISEASES 9419 \| CRIPT \| DISEASES 7976 \| FZD3 \| DISEASES 5335 \| PLCG1 \| DISEASES 10343 \| PKDREJ \| DISEASES 3845 \| KRAS \| DISEASES 324 \| APC \| DISEASES 6927 \| HNF1A \| DISEASES 5004 \| ORM1 \| DISEASES 4316 \| MMP7 \| DISEASES 1800 \| DPEP1 \| DISEASES 57551 \| TAOK1 \| DISEASES 999 \| CDH1 \| DISEASES 16 \| AARS \| DISEASES 51433 \| ANAPC5 \| DISEASES 8312 \| AXIN1 \| DISEASES 495 \| ATP4A \| DISEASES 27143 \| PALD1 \| DISEASES 4072 \| EPCAM \| DISEASES 192666 \| KRT24 \| DISEASES 4437 \| MSH3 \| DISEASES 64374 \| SIL1 \| DISEASES 320 \| APBA1 \| DISEASES 5395 \| PMS2 \| DISEASES 8549 \| LGR5 \| DISEASES 3695 \| ITGB7 \| DISEASES 10099 \| TSPAN3 \| DISEASES 7157 \| TP53 \| DISEASES 26018 \| LRIG1 \| DISEASES 1956 \| EGFR \| DISEASES 8795 \| TNFRSF10B \| DISEASES 2620 \| GAS2 \| DISEASES 498 \| ATP5A1 \| DISEASES 11197 \| WIF1 \| DISEASES 23420 \| NOMO1 \| DISEASES 5468 \| PPARG \| DISEASES 246 \| ALOX15 \| DISEASES 27306 \| HPGDS \| DISEASES 3549 \| IHH \| DISEASES 4085 \| MAD2L1 \| DISEASES 26585 \| GREM1 \| DISEASES 9780 \| PIEZO1 \| DISEASES 1549 \| CYP2A7 \| DISEASES 332 \| BIRC5 \| DISEASES 23524 \| SRRM2 \| DISEASES 4255 \| MGMT \| DISEASES 8313 \| AXIN2 \| DISEASES 5734 \| PTGER4 \| DISEASES 7363 \| UGT2B4 \| DISEASES 5581 \| PRKCE \| DISEASES 4968 \| OGG1 \| DISEASES 2752 \| GLUL \| DISEASES 25992 \| SNED1 \| DISEASES 3265 \| HRAS \| DISEASES 836 \| CASP3 \| DISEASES 5519 \| PPP2R1B \| DISEASES 137735 \| ABRA \| DISEASES 196883 \| ADCY4 \| DISEASES 5319 \| PLA2G1B \| DISEASES 4281 \| MID1 \| DISEASES 3172 \| HNF4A \| DISEASES 666 \| BOK \| DISEASES 57217 \| TTC7A \| DISEASES 50649 \| ARHGEF4 \| DISEASES 90411 \| MCFD2 \| DISEASES 79075 \| DSCC1 \| DISEASES 5426 \| POLE \| DISEASES 284358 \| MAMSTR \| DISEASES 60485 \| SAV1 \| DISEASES 2932 \| GSK3B \| DISEASES 6794 \| STK11 \| DISEASES 3590 \| IL11RA \| DISEASES 1670 \| DEFA5 \| DISEASES 115908 \| CTHRC1 \| DISEASES 2520 \| GAST \| DISEASES 796 \| CALCA \| DISEASES 2049 \| EPHB3 \| DISEASES 5727 \| PTCH1 \| DISEASES 256933 \| NPB \| DISEASES 668 \| FOXL2 \| DISEASES 2938 \| GSTA1 \| DISEASES 9075 \| CLDN2 \| DISEASES 4221 \| MEN1 \| DISEASES 51008 \| ASCC1 \| DISEASES 4521 \| NUDT1 \| DISEASES 6251 \| RSU1 \| DISEASES 11188 \| NISCH \| DISEASES 7366 \| UGT2B15 \| DISEASES 4089 \| SMAD4 \| DISEASES 121642 \| ALKBH2 \| DISEASES 23405 \| DICER1 \| DISEASES 54575 \| UGT1A10 \| DISEASES 1499 \| CTNNB1 \| DISEASES 56704 \| JPH1 \| DISEASES 4771 \| NF2 \| DISEASES 766 \| CA7 \| DISEASES 1739 \| DLG1 \| DISEASES 8326 \| FZD9 \| DISEASES 57522 \| SRGAP1 \| DISEASES 5979 \| RET \| DISEASES 10616 \| RBCK1 \| DISEASES 5733 \| PTGER3 \| DISEASES 3482 \| IGF2R \| DISEASES 53916 \| RAB4B \| DISEASES 4763 \| NF1 \| DISEASES 10004 \| NAALADL1 \| DISEASES 7048 \| TGFBR2 \| DISEASES 5336 \| PLCG2 \| DISEASES 1454 \| CSNK1E \| DISEASES 7707 \| ZNF148 \| DISEASES 4512 \| MT-CO1 \| DISEASES 5742 \| PTGS1 \| DISEASES 4513 \| MT-CO2 \| DISEASES 2987 \| GUK1 \| DISEASES 5321 \| PLA2G4A \| DISEASES 5743 \| PTGS2 \| DISEASES 2328 \| FMO3 \| DISEASES 6446 \| SGK1 \| DISEASES 5016 \| OVGP1 \| DISEASES 29952 \| DPP7 \| DISEASES 5728 \| PTEN \| DISEASES 4595 \| MUTYH \| DISEASES 54657 \| UGT1A4 \| DISEASES 659 \| BMPR2 \| DISEASES 1290 \| COL5A2 \| DISEASES 5320 \| PLA2G2A \| DISEASES 22919 \| MAPRE1 \| DISEASES 23013 \| SPEN \| DISEASES 765 \| CA6 \| DISEASES 4609 \| MYC \| DISEASES 8573 \| CASK \| DISEASES 11127 \| KIF3A \| DISEASES 7905 \| REEP5 \| DISEASES 675 \| BRCA2 \| DISEASES 247 \| ALOX15B \| DISEASES 2762 \| GMDS \| DISEASES 283820 \| NOMO2 \| DISEASES 221178 \| SPATA13 \| DISEASES 60312 \| AFAP1 \| DISEASES 5799 \| PTPRN2 \| DISEASES 54476 \| RNF216 \| DISEASES 116372 \| LYPD1 \| DISEASES 1415 \| CRYBB2 \| DISEASES 125150 \| ZSWIM7 \| DISEASES 408050 \| NOMO3 \| DISEASES 8450 \| CUL4B \| DISEASES 80204 \| FBXO11 \| DISEASES 4163 \| MCC \| DISEASES 6160 \| RPL31 \| DISEASES 1630 \| DCC \| DISEASES 3481 \| IGF2 \| DISEASES 8399 \| PLA2G10 \| DISEASES 1029 \| CDKN2A \| DISEASES 56616 \| DIABLO \| DISEASES 5424 \| POLD1 \| DISEASES 5378 \| PMS1 \| DISEASES 57862 \| ZNF410 \| DISEASES 151742 \| PPM1L \| DISEASES 54659 \| UGT1A3 \| DISEASES 672 \| BRCA1 \| DISEASES 7511 \| XPNPEP1 \| DISEASES 4750 \| NEK1 \| DISEASES 192134 \| B3GNT6 \| DISEASES 321 \| APBA2 \| DISEASES 10896 \| OCLM \| DISEASES 4555 \| MT-TD \| DISEASES 4574 \| MT-TS1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	119
Disease	adenomatous polyposis coli
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:9) HP:0002664 \| Neoplasia \| 3 HP:0005227 \| Multiple adenomatous colon polyps \| 1 HP:0000545 \| Near sightedness \| 1 HP:0000717 \| Autism \| 1 HP:0012028 \| Hepatocellular adenoma \| 1 HP:0003003 \| Colon cancer \| 1 HP:0006824 \| Cranial nerve palsy \| 1 HP:0000752 \| Hyperactive behavior \| 1 HP:0007011 \| Superior oblique palsy \| 1

Disease ID	119
Disease	adenomatous polyposis coli
Manually Symptom	UMLS \| Name(Total Manually Symptoms:2) C1862179 \| cerebellar medulloblastoma C0001418 \| adenocarcinomas
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:28)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs112422930	17081686	4595	MUTYH	umls:C0032580	BeFree	Here, we characterize one newly identified MAP-associated MYH missense mutation (R231L) that lies adjacent to the putative hMSH6 binding domain.	0.179745802	2007	MUTYH	1	45332409	A	C
rs112422930	17081686	2956	MSH6	umls:C0032580	BeFree	Here, we characterize one newly identified MAP-associated MYH missense mutation (R231L) that lies adjacent to the putative hMSH6 binding domain.	0.003995683	2007	MUTYH	1	45332409	A	C
rs11283943	21279955	4163	MCC	umls:C0032580	BeFree	In the present study we analyzed the association of genotype and haplotype status of two single nucleotide polymorphisms (SNPs), rs2229992 and rs11283943, in the APC and MCC genes, respectively, with an increased risk of breast carcinogenesis in a breast cancer and control population from eastern India.	0.124071628	2011	MCC	5	113071091	-	CGCGCTGTCTTCCT
rs113488022	17293392	673	BRAF	umls:C0032580	BeFree	Relationships between adenomatous polyposis coli (APC) mutations, BRAF V600E mutations, and the CpG island methylator phenotype (CIMP) in colon cancer have not been explored.	0.001900093	2007	BRAF	7	140753336	A	T,G,C
rs11541794	21992998	7276	TTR	umls:C0032580	BeFree	Here, we report the dominant cardiac phenotype and outcome of FAP associated with TTR Thr60Ala (T60A), the most common UK variant.	0.029858606	2012	TTR	18	31593004	A	G
rs121913224	NA	324	APC	umls:C0032580	CLINVAR	NA	0.776808767	NA	APC	5	112839521	AAAGA	-
rs121913364	17696956	5624	PROC	umls:C0032580	BeFree	We report a case with a very rare deletion mutation of BRAF (c.1799-1801delTGA, p.Val600_Lys601delinsGlu) in a serrated adenoma; the patient has familial adenomatous polyposis with a germline mutation of the APC gene (c.3578delA, p.Gln1193ArgfsX1264).	0.08	2007	BRAF	7	140753334	T	G,C
rs121913364	17696956	324	APC	umls:C0032580	BeFree	We report a case with a very rare deletion mutation of BRAF (c.1799-1801delTGA, p.Val600_Lys601delinsGlu) in a serrated adenoma; the patient has familial adenomatous polyposis with a germline mutation of the APC gene (c.3578delA, p.Gln1193ArgfsX1264).	0.776808767	2007	BRAF	7	140753334	T	G,C
rs137854567	NA	324	APC	umls:C0032580	UNIPROT	NA	0.776808767	NA	APC	5	112819272	C	T
rs137854575	16292097	324	APC	umls:C0032580	BeFree	We identified a mutation in the APC gene that results in a truncated protein (Y935X) in the FAP proband, and subsequently in 12 FAP-affected members.	0.776808767	2005	APC	5	112838399	C	A,G,T
rs137854575	NA	324	APC	umls:C0032580	CLINVAR	NA	0.776808767	NA	APC	5	112838399	C	A,G,T
rs1801155	9751605	324	APC	umls:C0032580	BeFree	These findings support a model where somatic instability of the (A)8 tract produced by the APC I1307K allele leads to increased APC gene inactivation and directly accounts for 42% of the colorectal neoplasms occurring in APC I1307K carriers.	0.776808767	1998	APC	5	112839514	T	A
rs1801166	19474113	324	APC	umls:C0032580	BeFree	Reports of the risk of colorectal neoplasia associated with a variant of the adenomatous polyposis coli (APC E1317Q) gene are conflicting.	0.776808767	2009	APC	5	112839543	G	C
rs1816769	23405266	1499	CTNNB1	umls:C0032580	BeFree	Survival tree analysis identified a higher-order genetic interaction profile consisting of the APC rs565453, CTNNB1 2293303, and APC rs1816769 that was significantly associated with overall survival.	0.026912471	2013	APC	5	112774082	G	C
rs2229992	21279955	4163	MCC	umls:C0032580	BeFree	In the present study we analyzed the association of genotype and haplotype status of two single nucleotide polymorphisms (SNPs), rs2229992 and rs11283943, in the APC and MCC genes, respectively, with an increased risk of breast carcinogenesis in a breast cancer and control population from eastern India.	0.124071628	2011	APC	5	112827157	T	C
rs2266780	15623613	2328	FMO3	umls:C0032580	BeFree	Polymorphisms in FMO3, particularly at the E158K and E308G loci, may reduce activity in catabolizing sulindac and result in an increased efficacy to prevent polyposis in FAP.	0.120814326	2004	FMO3	1	171114102	A	G
rs2266780	17559352	2328	FMO3	umls:C0032580	BeFree	Two commonly occurring polymorphisms of FMO3, E158K and E308G, have been associated with a reduction in polyp burden in patients with familial adenomatous polyposis who were treated with sulindac sulfide, an FMO3 substrate.	0.120814326	2007	FMO3	1	171114102	A	G
rs2266782	15623613	2328	FMO3	umls:C0032580	BeFree	Polymorphisms in FMO3, particularly at the E158K and E308G loci, may reduce activity in catabolizing sulindac and result in an increased efficacy to prevent polyposis in FAP.	0.120814326	2004	FMO3	1	171107825	G	A
rs2266782	17559352	2328	FMO3	umls:C0032580	BeFree	Two commonly occurring polymorphisms of FMO3, E158K and E308G, have been associated with a reduction in polyp burden in patients with familial adenomatous polyposis who were treated with sulindac sulfide, an FMO3 substrate.	0.120814326	2007	FMO3	1	171107825	G	A
rs3846716	19777185	354	KLK3	umls:C0032580	BeFree	This is the first report documenting the potential prognostic role of the APC rs3846716 GA/AA genotype on PSA recurrence after RP.	0.000271442	2010	APC	5	112723897	A	G
rs397515732	NA	324	APC	umls:C0032580	CLINVAR	NA	0.776808767	NA	APC	5	112835124	-	A
rs397515733	NA	324	APC	umls:C0032580	CLINVAR	NA	0.776808767	NA	APC	5	112838756	C	-
rs397515734	NA	324	APC	umls:C0032580	CLINVAR	NA	0.776808767	NA	APC	5	112792494	C	T
rs397515735	NA	324	APC	umls:C0032580	CLINVAR	NA	0.776808767	NA	APC	5	112815556	CT	-
rs565453	23405266	1499	CTNNB1	umls:C0032580	BeFree	Survival tree analysis identified a higher-order genetic interaction profile consisting of the APC rs565453, CTNNB1 2293303, and APC rs1816769 that was significantly associated with overall survival.	0.026912471	2013	NA	5	112849696	A	C
rs63750138	18176851	2956	MSH6	umls:C0032580	BeFree	We outline evidence supporting the pathogenicity of the identified hMSH6 mutation (arg772trp) and suggest possible etiologies for the unexplained colonic adenomatous polyposis.	0.003995683	2008	MSH6	2	47800297	C	A,T
rs72541816	NA	324	APC	umls:C0032580	UNIPROT	NA	0.776808767	NA	APC	5	112843456	C	G
rs727504420	NA	324	APC	umls:C0032580	CLINVAR	NA	0.776808767	NA	APC	5	112839849	A	-

GWASdb Annotation(Total Genotypes:16)
Chr	Pos	SNP_Id	RefGene	EnsemblGene	ENCODE_Factor	ENCODE_TFBS	Chromosome_interaction	GTEx_eQTL	SNP_TFBS_affinity_GWAS3D	SNP_miRNA_target_affinity_PolymiRTS	SNP_splicing_effect_Skippy	SNP_splicing_effect_MutPred_Splice	SNP_ns_protein_effect_dbNSFP	SNP_syn_effect_Silva	SNP_phosphorylation_effect_PhosSNP	PhastCons_score	PhyloP_score	GERP++_RS	Segway_state	Ancestral_allele	ESP_AF	ESP_AFR	ESP_AFR	ESP_EUR	TG_ASN	TG_AMR	TG_AFR	TG_EUR	Type	Consequence	bStatistic	EncH3K27Ac	EncH3K4Me1	EncH3K4Me3	EncNucleo	OMIM	Clinvar
4	87631353	rs3775239	NM_006264,PTPN13	NM_080683,PTPN13	NM_080684,PTPN13	NM_080685,PTPN13	ENST00000357349,ENSG00000163629	ENST00000436978,ENSG00000163629	ENST00000427191,ENSG00000163629	ENST00000411767,ENSG00000163629	ENST00000316707,ENSG00000163629	ENST00000511467,ENSG00000163629	NA	NA	chr4,87630001,87640000,chr9,69680001,69690000,42,Hi-C	NA	LM30,1.81	LM32,1.7637	LM142,1.7564	LM202,1.5489	LM231,8.1246	NA	NA	NA	NA	NA	NA	0.000	-0.697	-2.72	F0	C	NA	NA	NA	NA	NA
4	87637561	rs10516780	NM_006264,PTPN13	NM_080683,PTPN13	NM_080684,PTPN13	NM_080685,PTPN13	ENST00000357349,ENSG00000163629	ENST00000436978,ENSG00000163629	ENST00000427191,ENSG00000163629	ENST00000411767,ENSG00000163629	ENST00000316707,ENSG00000163629	ENST00000511467,ENSG00000163629	NA	NA	chr4,87630001,87640000,chr9,69680001,69690000,42,Hi-C	NA	Barx1_2877,18.5991	Barx2_3447,1.3938	Bsx_3483,1.9835	Ceh-22,2.2219	Gsm1-FL-primary,18.7646	NA	NA	NA	NA	NA	NA	0.000	-3.271	-9.52	R0	G	NA	NA	NA	NA	NA
4	87653856	rs61757790	NM_006264,PTPN13	NM_080683,PTPN13	NM_080684,PTPN13	NM_080685,PTPN13	ENST00000357349,ENSG00000163629	ENST00000436978,ENSG00000163629	ENST00000427191,ENSG00000163629	ENST00000411767,ENSG00000163629	ENST00000316707,ENSG00000163629	ENST00000511467,ENSG00000163629	NA	NA	NA	NA	LM26,1.8242	LM141,9.4746	RUNX1,1.3719	Pax4,2.3508	RYAAAKNNNNNNTTGW,27.7403	NA	NA	NA	NA	NA	NA	1.000	4.334	4.45	R3	G	NA	NA	NA	NA	NA
4	87656992	rs10024860	NM_006264,PTPN13	NM_080683,PTPN13	NM_080684,PTPN13	NM_080685,PTPN13	ENST00000357349,ENSG00000163629	ENST00000436978,ENSG00000163629	ENST00000427191,ENSG00000163629	ENST00000411767,ENSG00000163629	ENST00000316707,ENSG00000163629	ENST00000511467,ENSG00000163629	NA	NA	NA	NA	Cbf1-primary,2.7199	En2_0952,1.6937	Hlxb9_3422,2.1757	Hoxa7_3750,3.0161	Hoxb7_3953,3.2376	NA	NA	NA	NA	NA	NA	0.000	0.062	-0.588	F0	A	NA	NA	NA	0.100	0.010
4	87665384	rs969734	NM_006264,PTPN13	NM_080683,PTPN13	NM_080684,PTPN13	NM_080685,PTPN13	ENST00000357349,ENSG00000163629	ENST00000436978,ENSG00000163629	ENST00000427191,ENSG00000163629	ENST00000411767,ENSG00000163629	ENST00000316707,ENSG00000163629	ENST00000511467,ENSG00000163629	NA	NA	NA	NA	Aft1-primary,3.2499	Hal9-primary,1.4329	Hal9-primary,1.5159	Mig1-primary,2.2398	Ndt80-primary,1.9774	NA	NA	NA	NA	NA	NA	0.000	-0.753	-2.69	F0	T	NA	NA	NA	NA	NA
4	87666595	rs12499575	NM_006264,PTPN13	NM_080683,PTPN13	NM_080684,PTPN13	NM_080685,PTPN13	ENST00000357349,ENSG00000163629	ENST00000436978,ENSG00000163629	ENST00000427191,ENSG00000163629	ENST00000411767,ENSG00000163629	ENST00000316707,ENSG00000163629	ENST00000511467,ENSG00000163629	NA	NA	NA	NA	LM32,9.4636	LM47,1.5436	LM52,2.3211	LM52,2.9004	LM68,1.7953	NA	NA	NA	NA	NA	NA	0.000	-0.156	-1.24	R3	A	NA	NA	NA	0.060	0.010
4	87673221	rs2054593	NM_006264,PTPN13	NM_080683,PTPN13	NM_080684,PTPN13	NM_080685,PTPN13	ENST00000357349,ENSG00000163629	ENST00000436978,ENSG00000163629	ENST00000427191,ENSG00000163629	ENST00000411767,ENSG00000163629	ENST00000316707,ENSG00000163629	ENST00000511467,ENSG00000163629	NA	NA	NA	NA	Fhl1-DBD-primary,2.4792	Gzf3-primary,1.2897	Mcm1-primary,2.534	LM35,2.022	LM40,1.7519	NA	NA	NA	NA	NA	NA	0.000	-2.198	-10.6	GE0	C	NA	NA	NA	NA	NA
4	87677257	rs1035191	NM_006264,PTPN13	NM_080683,PTPN13	NM_080684,PTPN13	NM_080685,PTPN13	ENST00000357349,ENSG00000163629	ENST00000436978,ENSG00000163629	ENST00000427191,ENSG00000163629	ENST00000411767,ENSG00000163629	ENST00000316707,ENSG00000163629	ENST00000511467,ENSG00000163629	NA	NA	NA	NA	Cart1_0997,2.4649	Cdx1_2245,3.5508	Cdx2_4272,1.8602	Cphx_3484,13.3351	Cphx_3484,6.9652	NA	NA	NA	NA	NA	NA	0.001	0.681	1.82	F1	G	NA	NA	NA	NA	NA
4	87679642	rs1420624	NM_006264,PTPN13	NM_080683,PTPN13	NM_080684,PTPN13	NM_080685,PTPN13	ENST00000357349,ENSG00000163629	ENST00000436978,ENSG00000163629	ENST00000427191,ENSG00000163629	ENST00000411767,ENSG00000163629	ENST00000316707,ENSG00000163629	ENST00000511467,ENSG00000163629	ENST00000508063,ENSG00000163629	NA	NA	NA	NA	RREB1,1.2657	RXRA-VDR,9.7662	at_AC_acceptor,1.7779	GATA-1,28.4849	Pbx1b,3.947	NA	NA	NA	NA	NA	NA	0.000	0.429	1.7	R1	C	NA	NA	NA	0.680
4	87683715	rs181519890	NM_006264,PTPN13	NM_080683,PTPN13	NM_080684,PTPN13	NM_080685,PTPN13	ENST00000357349,ENSG00000163629	ENST00000436978,ENSG00000163629	ENST00000427191,ENSG00000163629	ENST00000411767,ENSG00000163629	ENST00000316707,ENSG00000163629	ENST00000511467,ENSG00000163629	ENST00000511105,ENSG00000163629	ENST00000508063,ENSG00000163629	NA	NA	chr4,87680001,87690000,chr17,30840001,30850000,6,Hi-C	chr4,87680001,87690000,chr4,114820001,114830000,6,Hi-C	NA	NA	NA	NA	NA	NA	NA	NA	0.000	-1.540	-6.52	L1	T	NA	NA	NA	NA	NA	NA
4	87685796	rs10033029	NM_006264,PTPN13	NM_080683,PTPN13	NM_080684,PTPN13	NM_080685,PTPN13	ENST00000357349,ENSG00000163629	ENST00000436978,ENSG00000163629	ENST00000427191,ENSG00000163629	ENST00000411767,ENSG00000163629	ENST00000316707,ENSG00000163629	ENST00000511467,ENSG00000163629	ENST00000511105,ENSG00000163629	NA	NA	chr4,87680001,87690000,chr17,30840001,30850000,6,Hi-C	chr4,87680001,87690000,chr4,114820001,114830000,6,Hi-C	NA	LM144,9.8285	LM185,2.6944	LM230,2.5436	CREB1,1.5349	CREB,4.4297	NA	NA	NA	NA	NA	NM_006264,TypeIII+,TTT->TTG,F->L,1.967	NM_006264,TypeIII+,TTT->TTG,F->L,3	NM_006264,TypeIII+,TTT->TTG,F->L,5	NM_006264,TypeIII+,TTT->TTG,F->L,2.182	NM_006264,TypeIII+,TTT->TTG,F->L,1.861	NM_006264,TypeIII+,TTT->TTG,F->L,2.179	NM_006264,TypeIII+,TTT->TTG,F->L,2.37	NM_006264,TypeIII+,TTT->TTG,F->L,2.628	NM_006264,TypeIII+,TTT->TTG,F->L,2.1
4	87690998	rs2230600	NM_006264,PTPN13	NM_080683,PTPN13	NM_080684,PTPN13	NM_080685,PTPN13	ENST00000357349,ENSG00000163629	ENST00000436978,ENSG00000163629	ENST00000427191,ENSG00000163629	ENST00000411767,ENSG00000163629	ENST00000316707,ENSG00000163629	ENST00000511467,ENSG00000163629	NA	NA	NA	NA	Gsm1-FL-primary,2.3185	Gsm1-FL-primary,2.1497	Leu3-primary,8.4039	Oaf1-DBD-primary,1.6543	Oaf1-DBD-primary,1.5787	NA	NA	NA	NA	NA	NA	0.664	0.102	3.14	R2	A	NA	NA	NA	NA	NA
4	87710252	rs10516783	NM_006264,PTPN13	NM_080683,PTPN13	NM_080684,PTPN13	NM_080685,PTPN13	ENST00000357349,ENSG00000163629	ENST00000436978,ENSG00000163629	ENST00000427191,ENSG00000163629	ENST00000411767,ENSG00000163629	ENST00000316707,ENSG00000163629	ENST00000511467,ENSG00000163629	MCV-8	NA	NA	NA	Barx2_3447,1.9222	Isl2_3430,2.4442	Rpn4-primary,1.5362	Tbf1-DBD-primary,1.3496	Yml081w-primary,1.6753	NA	NA	NA	NA	NA	NA	0.002	-0.379	-1.35	R3	C	NA	NA	NA	NA	NA
4	87711806	rs10009789	NM_006264,PTPN13	NM_080683,PTPN13	NM_080684,PTPN13	NM_080685,PTPN13	ENST00000357349,ENSG00000163629	ENST00000436978,ENSG00000163629	ENST00000427191,ENSG00000163629	ENST00000411767,ENSG00000163629	ENST00000316707,ENSG00000163629	ENST00000511467,ENSG00000163629	NA	NA	NA	NA	LM6,8.5584	LM74,3.5637	LM74,2.4053	LM102,1.6361	LM189,1.9937	NA	NA	NA	NA	NA	NA	0.001	0.046	0.077	R2	A	NA	NA	NA	0.080	0.010
4	87731238	rs11930396	NM_006264,PTPN13	NM_080683,PTPN13	NM_080684,PTPN13	NM_080685,PTPN13	ENST00000357349,ENSG00000163629	ENST00000436978,ENSG00000163629	ENST00000427191,ENSG00000163629	ENST00000411767,ENSG00000163629	ENST00000316707,ENSG00000163629	ENST00000511467,ENSG00000163629	TFP.MAFK	TFP.MAFF	NA	NA	NA	LM56,1.9774	LM92,1.3661	LM171,1.6666	LM173,3.1194	LM192,1.5932	NA	NA	NA	NA	NA	NA	0.000	0.928	1.29	F0	A	NA	NA	NA	0.300
4	87732483	rs2287147	NM_006264,PTPN13	NM_080683,PTPN13	NM_080684,PTPN13	NM_080685,PTPN13	ENST00000357349,ENSG00000163629	ENST00000436978,ENSG00000163629	ENST00000427191,ENSG00000163629	ENST00000411767,ENSG00000163629	ENST00000316707,ENSG00000163629	ENST00000511467,ENSG00000163629	NA	NA	NA	NA	LM30,1.711	LM31,2.162	LM32,5.9362	LM34,1.3271	LM34,1.6788	NA	NA	NA	NA	NA	NA	0.019	0.587	1.73	R0	C	NA	NA	NA	NA	NA

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

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

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

Chemical(Total Drugs:2)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0032580	celecoxib	D000068579	-	adenomatous polyposis coli	MESH:D011125	therapeutic	16215675
C0032580	sulindac	D013467	38194-50-2	adenomatous polyposis coli	MESH:D011125	therapeutic	11535846

FDA approved drug and dosage information(Total Drugs:2)
DiseaseID	Drug_name	active_ingredients	strength	Dosage Form/Route	Marketing Status	TE code	RLD	RS
MESH:D011125	celebrex	celecoxib	100MG	CAPSULE;ORAL	Prescription	AB	Yes	No
MESH:D011125	celebrex	celecoxib	100MG	CAPSULE;ORAL	Prescription	None	No	No

FDA labeling changes(Total Drugs:2)
DiseaseID	Pediatric_Labeling_Date	Trade_Name	Generic_Name_or_Proper_Name	Indications Studied	Label Changes Summary	Product Labeling	BPCA(B)	PREA(P)	BPCA(B) and PREA(P)	Pediatric Rule (R)	Sponsor	Pediatric Exclusivity Granted Date	NNPS
MESH:D011125	12/15/2006	celebrex	celecoxib	Relief of the signs and symptoms of juvenile rheumatoid arthritis (JRA)	New indication in 2 years and older Has not been studied in patients < 2 years, in patients with body weight < 10 kg, or in patients with active systemic features Celecoxib should be used only with caution in patients with systemic onset JRA due to the risk for serious adverse reactions including the risk of disseminated intravascular coagulation The long-term cardiovascular toxicity in children has not been evaluated; it is unknown if the long-term risk may be similar to that seen in adults New 50 mg capsule developed Information on adding contents of a capsule to applesauce. for patients with difficulty swallowing capsules Information on dose, clinical studies, PK parameters, AEs	Labeling	B	-	-	-	Pfizer	08/23/2006	FALSE'
MESH:D011125	12/15/2006	celebrex	celecoxib	Relief of the signs and symptoms of juvenile rheumatoid arthritis (JRA)	New indication in 2 years and older Has not been studied in patients < 2 years, in patients with body weight < 10 kg, or in patients with active systemic features Celecoxib should be used only with caution in patients with systemic onset JRA due to the risk for serious adverse reactions including the risk of disseminated intravascular coagulation The long-term cardiovascular toxicity in children has not been evaluated; it is unknown if the long-term risk may be similar to that seen in adults New 50 mg capsule developed Information on adding contents of a capsule to applesauce. for patients with difficulty swallowing capsules Information on dose, clinical studies, PK parameters, AEs	Labeling	B	-	-	-	Pfizer	08/23/2006	FALSE'