PedAM

Pediatric Disease Annotations & Medicines


	hirschsprung disease

Disease ID	61
Disease	hirschsprung disease
Definition	Congenital MEGACOLON resulting from the absence of ganglion cells (aganglionosis) in a distal segment of the LARGE INTESTINE. The aganglionic segment is permanently contracted thus causing dilatation proximal to it. In most cases, the aganglionic segment is within the RECTUM and SIGMOID COLON.
Synonym	aganglionic megacolon aganglionosis congen megacolon congenital aganglionic megacolon congenital megacolon congenital megacolon (disorder) disease hirschsprung disease hirschsprung's disease hirschsprungs disease, hirschsprung disease, hirschsprung's diseases hirschsprung hd - hirschsprung's disease hirschsprung dis hirschsprung disease [disease/finding] hirschsprung megacolon hirschsprung's disease hirschsprung's disease (disorder) hirschsprung's disease [ambiguous] hirschsprung's disease nos hirschsprung's disease nos (disorder) hirschsprungs dis hirschsprungs disease hirshsprungs disease macrocolon macrocolon (disorder) macrocolon (finding) megacolon congen megacolon congenital megacolon, aganglionic megacolon, congenital pelvirectal achalasia
Orphanet	ORPHANET:388
OMIM	OMIM:142623
DOID	DOID:10487
ICD10	ICD10CM:Q43.1
UMLS	C0019569
MeSH	D006627
SNOMED-CT	SNOMEDCT_US_2016_09_01:204739008;SNOMEDCT_US_2016_09_01:367495003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:33) C0009806 \| constipation \| 5 C0025160 \| megacolon \| 4 C1856113 \| mowat-wilson syndrome \| 3 C1736133 \| congenital central hypoventilation syndrome \| 3 C0043008 \| waardenburg syndrome \| 2 C0025268 \| multiple endocrine neoplasia type 2 \| 2 C0027662 \| multiple endocrine neoplasia \| 2 C0019569 \| hirschsprung's disease \| 2 C0025162 \| toxic megacolon \| 2 C0549473 \| thyroid carcinoma \| 2 C0238462 \| medullary thyroid carcinoma \| 2 C0010308 \| congenital hypothyroidism \| 2 C0007115 \| thyroid ca \| 2 C0043008 \| waardenburg's syndrome \| 1 C0007570 \| celiac disease \| 1 C0018799 \| heart diseases \| 1 C0009806 \| constipated \| 1 C0265706 \| gastroschisis \| 1 C0752166 \| bardet-biedl syndrome \| 1 C0158699 \| renal agenesis \| 1 C0010690 \| cystinosis \| 1 C0021847 \| intestinal pseudo-obstruction \| 1 C0026769 \| multiple sclerosis \| 1 C0027819 \| neuroblastoma \| 1 C0079840 \| milk allergy \| 1 C0020255 \| hydrocephalus \| 1 C0008625 \| chromosomal abnormality \| 1 C0015624 \| nephropathic cystinosis \| 1 C0034220 \| pyosalpinx \| 1 C0020676 \| hypothyroidism \| 1 C0018799 \| heart disease \| 1 C0002726 \| amyloidosis \| 1 C0036992 \| short gut syndrome \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:13) ZEB2 \| 9839 \| UniProtKB-KW ECE1 \| 1889 \| CTD_human;ORPHANET;UniProtKB-KW RET \| 5979 \| CLINVAR;CTD_human;ORPHANET;GHR;UniProtKB-KW EDN3 \| 1908 \| CTD_human;ORPHANET;GHR;UniProtKB-KW PHOX2B \| 8929 \| CTD_human GDNF \| 2668 \| CTD_human;ORPHANET;GHR;UniProtKB-KW NRTN \| 4902 \| CTD_human;ORPHANET;GHR;UniProtKB-KW L1CAM \| 3897 \| CTD_human;UniProtKB-KW EDNRB \| 1910 \| CTD_human;ORPHANET;GHR;UniProtKB-KW SOX10 \| 6663 \| UniProtKB-KW NRG1 \| 3084 \| CTD_human;GHR SEMA3D \| 223117 \| ORPHANET SEMA3C \| 10512 \| ORPHANET
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:21) 9048 \| ARTN \| infer 8313 \| AXIN2 \| infer 1910 \| EDNRB \| infer 2668 \| GDNF \| infer 3084 \| NRG1 \| infer 4902 \| NRTN \| infer 4916 \| NTRK3 \| infer 8929 \| PHOX2B \| infer 5623 \| PSPN \| infer 5979 \| RET \| infer 1908 \| EDN3 \| infer 2674 \| GFRA1 \| infer 2675 \| GFRA2 \| infer 2676 \| GFRA3 \| infer 64096 \| GFRA4 \| infer 3209 \| HOXA13 \| infer 3217 \| HOXB7 \| infer 3549 \| IHH \| infer 221002 \| RASGEF1A \| infer 6663 \| SOX10 \| infer 7270 \| TTF1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:207) 11185 \| INMT \| DISEASES 1015 \| CDH17 \| DISEASES 55650 \| PIGV \| DISEASES 1951 \| CELSR3 \| DISEASES 4804 \| NGFR \| DISEASES 1113 \| CHGA \| DISEASES 3163 \| HMOX2 \| DISEASES 1666 \| DECR1 \| DISEASES 4741 \| NEFM \| DISEASES 973 \| CD79A \| DISEASES 3209 \| HOXA13 \| DISEASES 8929 \| PHOX2B \| DISEASES 4254 \| KITLG \| DISEASES 2026 \| ENO2 \| DISEASES 3196 \| TLX2 \| DISEASES 1509 \| CTSD \| DISEASES 3215 \| HOXB5 \| DISEASES 7976 \| FZD3 \| DISEASES 4852 \| NPY \| DISEASES 6718 \| AKR1D1 \| DISEASES 1959 \| EGR2 \| DISEASES 6662 \| SOX9 \| DISEASES 5623 \| PSPN \| DISEASES 56926 \| NCLN \| DISEASES 3235 \| HOXD9 \| DISEASES 3110 \| MNX1 \| DISEASES 2670 \| GFAP \| DISEASES 10752 \| CHL1 \| DISEASES 57498 \| KIDINS220 \| DISEASES 2922 \| GRP \| DISEASES 26122 \| EPC2 \| DISEASES 57520 \| HECW2 \| DISEASES 10060 \| ABCC9 \| DISEASES 2294 \| FOXF1 \| DISEASES 22898 \| DENND3 \| DISEASES 27443 \| CECR2 \| DISEASES 8030 \| CCDC6 \| DISEASES 421 \| ARVCF \| DISEASES 6855 \| SYP \| DISEASES 3299 \| HSF4 \| DISEASES 8942 \| KYNU \| DISEASES 4811 \| NID1 \| DISEASES 8808 \| IL1RL2 \| DISEASES 590 \| BCHE \| DISEASES 55825 \| PECR \| DISEASES 10512 \| SEMA3C \| DISEASES 10371 \| SEMA3A \| DISEASES 51083 \| GAL \| DISEASES 429 \| ASCL1 \| DISEASES 9775 \| EIF4A3 \| DISEASES 84432 \| PROK1 \| DISEASES 3782 \| KCNN3 \| DISEASES 55840 \| EAF2 \| DISEASES 9180 \| OSMR \| DISEASES 10788 \| IQGAP2 \| DISEASES 2676 \| GFRA3 \| DISEASES 27315 \| PGAP2 \| DISEASES 4863 \| NPAT \| DISEASES 6695 \| SPOCK1 \| DISEASES 3087 \| HHEX \| DISEASES 223117 \| SEMA3D \| DISEASES 7345 \| UCHL1 \| DISEASES 6750 \| SST \| DISEASES 3815 \| KIT \| DISEASES 6493 \| SIM2 \| DISEASES 8566 \| PDXK \| DISEASES 7471 \| WNT1 \| DISEASES 4917 \| NTN3 \| DISEASES 55843 \| ARHGAP15 \| DISEASES 27302 \| BMP10 \| DISEASES 9076 \| CLDN1 \| DISEASES 4286 \| MITF \| DISEASES 3549 \| IHH \| DISEASES 6853 \| SYN1 \| DISEASES 30012 \| TLX3 \| DISEASES 120114 \| FAT3 \| DISEASES 219793 \| TBATA \| DISEASES 10818 \| FRS2 \| DISEASES 348093 \| RBPMS2 \| DISEASES 7846 \| TUBA1A \| DISEASES 9839 \| ZEB2 \| DISEASES 4902 \| NRTN \| DISEASES 143501 \| C11orf40 \| DISEASES 43 \| ACHE \| DISEASES 6036 \| RNASE2 \| DISEASES 55699 \| IARS2 \| DISEASES 10887 \| PROKR1 \| DISEASES 57555 \| NLGN2 \| DISEASES 10791 \| VAMP5 \| DISEASES 9915 \| ARNT2 \| DISEASES 794 \| CALB2 \| DISEASES 11280 \| SCN11A \| DISEASES 3213 \| HOXB3 \| DISEASES 266743 \| NPAS4 \| DISEASES 4744 \| NEFH \| DISEASES 64096 \| GFRA4 \| DISEASES 1909 \| EDNRA \| DISEASES 1857 \| DVL3 \| DISEASES 4684 \| NCAM1 \| DISEASES 166379 \| BBS12 \| DISEASES 8727 \| CTNNAL1 \| DISEASES 27181 \| SIGLEC8 \| DISEASES 6863 \| TAC1 \| DISEASES 25970 \| SH2B1 \| DISEASES 5324 \| PLAG1 \| DISEASES 113457 \| TUBA3D \| DISEASES 80789 \| INTS5 \| DISEASES 3768 \| KCNJ12 \| DISEASES 3714 \| JAG2 \| DISEASES 9241 \| NOG \| DISEASES 796 \| CALCA \| DISEASES 5727 \| PTCH1 \| DISEASES 4887 \| NPY2R \| DISEASES 9939 \| RBM8A \| DISEASES 1103 \| CHAT \| DISEASES 1908 \| EDN3 \| DISEASES 114548 \| NLRP3 \| DISEASES 4842 \| NOS1 \| DISEASES 3363 \| HTR7 \| DISEASES 2885 \| GRB2 \| DISEASES 84720 \| PIGO \| DISEASES 79712 \| GTDC1 \| DISEASES 7479 \| WNT8B \| DISEASES 50650 \| ARHGEF3 \| DISEASES 283652 \| SLC24A5 \| DISEASES 57492 \| ARID1B \| DISEASES 1811 \| SLC26A3 \| DISEASES 54716 \| SLC6A20 \| DISEASES 7080 \| NKX2-1 \| DISEASES 5979 \| RET \| DISEASES 3084 \| NRG1 \| DISEASES 29116 \| MYLIP \| DISEASES 6525 \| SMTN \| DISEASES 5602 \| MAPK10 \| DISEASES 1995 \| ELAVL3 \| DISEASES 26509 \| MYOF \| DISEASES 9220 \| TIAF1 \| DISEASES 3201 \| HOXA4 \| DISEASES 5697 \| PYY \| DISEASES 4133 \| MAP2 \| DISEASES 6663 \| SOX10 \| DISEASES 4916 \| NTRK3 \| DISEASES 22871 \| NLGN1 \| DISEASES 7432 \| VIP \| DISEASES 10763 \| NES \| DISEASES 57657 \| HCN3 \| DISEASES 2173 \| FABP7 \| DISEASES 221303 \| FAM162B \| DISEASES 3897 \| L1CAM \| DISEASES 653 \| BMP5 \| DISEASES 10718 \| NRG3 \| DISEASES 8643 \| PTCH2 \| DISEASES 5453 \| POU3F1 \| DISEASES 65979 \| PHACTR4 \| DISEASES 51230 \| PHF20 \| DISEASES 55454 \| CSGALNACT2 \| DISEASES 8518 \| IKBKAP \| DISEASES 1889 \| ECE1 \| DISEASES 353116 \| RILPL1 \| DISEASES 1910 \| EDNRB \| DISEASES 79026 \| AHNAK \| DISEASES 140767 \| NRSN1 \| DISEASES 221662 \| RBM24 \| DISEASES 1906 \| EDN1 \| DISEASES 152485 \| ZNF827 \| DISEASES 51360 \| MBTPS2 \| DISEASES 1107 \| CHD3 \| DISEASES 2762 \| GMDS \| DISEASES 9350 \| CER1 \| DISEASES 7054 \| TH \| DISEASES 8110 \| DPF3 \| DISEASES 6736 \| SRY \| DISEASES 51070 \| NOSIP \| DISEASES 5077 \| PAX3 \| DISEASES 1621 \| DBH \| DISEASES 2596 \| GAP43 \| DISEASES 221002 \| RASGEF1A \| DISEASES 9425 \| CDYL \| DISEASES 594857 \| NPS \| DISEASES 2868 \| GRK4 \| DISEASES 7478 \| WNT8A \| DISEASES 121536 \| AEBP2 \| DISEASES 1826 \| DSCAM \| DISEASES 9718 \| ECE2 \| DISEASES 79987 \| SVEP1 \| DISEASES 1123 \| CHN1 \| DISEASES 9048 \| ARTN \| DISEASES 3800 \| KIF5C \| DISEASES 2674 \| GFRA1 \| DISEASES 4204 \| MECP2 \| DISEASES 4908 \| NTF3 \| DISEASES 6464 \| SHC1 \| DISEASES 2668 \| GDNF \| DISEASES 2566 \| GABRG2 \| DISEASES 2741 \| GLRA1 \| DISEASES 27042 \| DIEXF \| DISEASES 6091 \| ROBO1 \| DISEASES 9353 \| SLIT2 \| DISEASES 2675 \| GFRA2 \| DISEASES 11075 \| STMN2 \| DISEASES 6586 \| SLIT3 \| DISEASES 399687 \| MYO18A \| DISEASES 56917 \| MEIS3 \| DISEASES 6625 \| SNRNP70 \| DISEASES 100316868 \| HOTTIP \| DISEASES 6023 \| RMRP \| DISEASES 6080 \| SNORA73A \| DISEASES
Locus	Symbol \| Locus(Total Locus:8) EDN3 \| 20q13.32 NRTN \| 19p13.3 RET \| 10q11.21 SEMA3D \| 7q21.11 EDNRB \| 13q22.3 GDNF \| 5p13.2 SEMA3C \| 7q21.11 ECE1 \| 1p36.12

Disease ID	61
Disease	hirschsprung disease
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:16) HP:0001181 \| Adducted thumb HP:0000407 \| Sensorineural hearing impairment HP:0005214 \| Intestinal obstruction HP:0004322 \| Short stature HP:0100806 \| Sepsis HP:0200008 \| Intestinal polyposis HP:0001824 \| Weight loss HP:0002251 \| Aganglionic megacolon HP:0001249 \| Intellectual disability HP:0001531 \| Failure to thrive in infancy HP:0002019 \| Constipation HP:0002014 \| Diarrhea HP:0002017 \| Nausea and vomiting HP:0012719 \| Functional abnormality of the gastrointestinal tract HP:0002027 \| Abdominal pain HP:0100031 \| Neoplasm of the thyroid gland
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:34) HP:0002251 \| Hirschsprung megacolon \| 6 HP:0002019 \| Dyschezia \| 5 HP:0007110 \| Central hypoventilation \| 4 HP:0002791 \| Under breathing \| 4 HP:0004387 \| Enterocolitis \| 3 HP:0002607 \| Anal incontinence \| 2 HP:0030731 \| Carcinoma \| 2 HP:0002890 \| Thyroid carcinoma \| 2 HP:0002865 \| Medullary thyroid carcinoma \| 2 HP:0000851 \| Congenital hypothyroidism \| 2 HP:0000238 \| Nonsyndromal hydrocephalus \| 1 HP:0003006 \| Neuroblastoma \| 1 HP:0012450 \| Chronic constipation \| 1 HP:0002079 \| Hypoplasia of the corpus callosum \| 1 HP:0005241 \| Total intestinal aganglionosis \| 1 HP:0000072 \| Megaureter \| 1 HP:0000506 \| Telecanthus \| 1 HP:0011034 \| Amyloid disease \| 1 HP:0000104 \| Renal agenesis \| 1 HP:0012393 \| Allergy \| 1 HP:0001543 \| Gastroschisis \| 1 HP:0003270 \| Distended abdomen \| 1 HP:0010448 \| Large intestinal atresia \| 1 HP:0001257 \| Spasticity \| 1 HP:0030853 \| Heterotaxy \| 1 HP:0100806 \| Sepsis \| 1 HP:0010442 \| Polydactyly \| 1 HP:0000122 \| Unilateral kidney agenesis \| 1 HP:0000821 \| Underactive thyroid \| 1 HP:0004389 \| Intestinal pseudo-obstruction \| 1 HP:0100327 \| Cow milk allergy \| 1 HP:0011286 \| Total colonic aganglionosis \| 1 HP:0000201 \| Pierre-robin deformity \| 1 HP:0002608 \| Celiac disease \| 1

Disease ID	61
Disease	hirschsprung disease
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:8) C0014356 \| enterocolitis \| 3 C1275808 \| congenital central hypoventilation \| 2 C1736133 \| congenital central hypoventilation syndrome \| 2 C0015732 \| fecal incontinence \| 2 C0752166 \| bardet-biedl syndrome \| 1 C0008625 \| chromosomal abnormality \| 1 C0401149 \| chronic constipation \| 1 C0266190 \| colonic atresia \| 1

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

All Snps(Total Genotypes:19)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1042389	25424204	1555	CYP2B6	umls:C0019569	BeFree	Associations Between CYP2B6 rs707265, rs1042389, rs2054675, and Hirschsprung Disease in a Chinese Population.	0.000271442	2014	CYP2B6	19	41018248	T	C
rs104894389	9094028	1910	EDNRB	umls:C0019569	BeFree	In the EDNRB locus, two mutations were observed; a nonsense mutation of Trp to stop at codon 275, and a T insertion at nucleotide 878, in patients with aganglionosis confined to the rectosigmoid colon, and the descending colon, respectively.	0.354600058	1997	EDNRB;EDNRB-AS1	13	77901185	C	T,G
rs139392904	19040714	4916	NTRK3	umls:C0019569	BeFree	A novel point variant in NTRK3, R645C, suggests a role of this gene in the pathogenesis of Hirschsprung disease.	0.005634266	2009	NTRK3	15	87929391	G	A
rs16879552	19196962	3084	NRG1	umls:C0019569	GAD	[Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.]	0.124538567	2009	NRG1	8	32553698	C	T
rs199881560	21206993	64096	GFRA4	umls:C0019569	BeFree	To support the role of PSPN R91C in HSCR phenotype, enteric nervous system (ENS) progenitors were isolated from human postnatal gut tissues and expression of GFRα4, the main co-receptor for PSPN, was demonstrated.	0.000271442	2011	PSPN;ALKBH7	19	6375494	G	A
rs2054675	25424204	1555	CYP2B6	umls:C0019569	BeFree	Associations Between CYP2B6 rs707265, rs1042389, rs2054675, and Hirschsprung Disease in a Chinese Population.	0.000271442	2014	CYP2B6	19	40989850	T	C
rs224030	19065536	8313	AXIN2	umls:C0019569	GAD	[To investigate the association of Axis inhibitor-2 (AXIN2) gene rs2240308, rs8081536 and rs9913621 single nucleotide polymorphisms (SNPs) with Hirschsprung disease(HSCR).]	0.002367032	2008	NA	10	62760375	A	G
rs2435357	24845202	5979	RET	umls:C0019569	BeFree	No correlation between the rs2435357 polymorphism of RET and the expression of Hirschsprung disease was found.	0.52854372	2014	RET	10	43086608	T	C
rs2742234	19196962	55454	CSGALNACT2	umls:C0019569	GAD	[Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.]	0.002367032	2009	RET	10	43117161	C	T
rs2742234	19196962	221002	RASGEF1A	umls:C0019569	GAD	[Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.]	0.002638474	2009	RET	10	43117161	C	T
rs2910164	25445498	6091	ROBO1	umls:C0019569	BeFree	Our results showed that the polymorphism rs2910164 in pre-miR-146a might alter the production of mature miR-146a and then down-regulate the target gene ROBO1, which plays an important role in pathogenesis of HSCR.	0.000271442	2014	LOC285628;MIR146A	5	160485411	C	G
rs36119840	9215674	2668	GDNF	umls:C0019569	BeFree	GDNF sequence variants including R93W have been suggested previously to represent low penetrance susceptibility mutations for Hirschsprung disease and the R93W was not identified in 376 control alleles studied by others.	0.258250076	1997	GDNF	5	37816010	G	A
rs368431125	9094028	5979	RET	umls:C0019569	BeFree	By direct sequencing, three causative RET mutations were confirmed; a Phe to Ser substitution at codon 174, a Cys to Tyr substitution at codon 197, and a point mutation at the splice acceptor site of intron 12, in patients with aganglionosis confined to the rectosigmoid colon, the transverse colon, and the total colon, respectively.	0.52854372	1997	RET	10	43102522	C	T
rs707265	25424204	1555	CYP2B6	umls:C0019569	BeFree	Associations Between CYP2B6 rs707265, rs1042389, rs2054675, and Hirschsprung Disease in a Chinese Population.	0.000271442	2014	CYP2B6	19	41018182	A	G
rs77316810	22584707	5979	RET	umls:C0019569	BeFree	RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family.	0.52854372	2012	RET	10	43113654	T	A,C,G
rs77558292	23744765	796	CALCA	umls:C0019569	BeFree	Four subjects (aged 31-50 years) with co-occurring RET mutations in exons 10 (C609R; n=1) and 13 (Y791F, n=3) had sporadic short-segment HD with normal thyroid US and serum calcitonin.	0.000271442	2014	RET	10	43113621	T	A,C,G
rs77724903	NA	5979	RET	umls:C0019569	CLINVAR	NA	0.52854372	NA	RET	10	43118460	A	T
rs77724903	23744765	796	CALCA	umls:C0019569	BeFree	Four subjects (aged 31-50 years) with co-occurring RET mutations in exons 10 (C609R; n=1) and 13 (Y791F, n=3) had sporadic short-segment HD with normal thyroid US and serum calcitonin.	0.000271442	2014	RET	10	43118460	A	T
rs79853121	NA	5979	RET	umls:C0019569	CLINVAR	NA	0.52854372	NA	RET	10	43126651	C	A,T

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

GWASdb Snp Trait(Total Genotypes:65)
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	147379941	rs17160783	A	G	rs17160783	19196962	2.46E-05	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	A	GJA8
1	231198332	rs4369216	A	C	rs4369216	19196962	2.23E-05	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	C	NA
1	235754243	rs2774316	G	C	rs2774316	19196962	3.58E-06	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	G	GNG4
2	27353507	rs2304678	G	C	rs2304678	19196962	1.67E-07	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	C	ABHD1
2	234669144	rs4148323	G	A	rs4148323	19196962	2.64E-05	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	G	UGT1A1
3	2624938	rs2619566	G	A	rs2619566	19196962	4.26E-05	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	T	CNTN4
3	16852736	rs7625233	A	G	rs7625233	19196962	5.56E-06	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	G	NA
4	10990869	rs10805258	A	G	rs10805258	19196962	3.07E-05	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	G	NA
4	27097190	rs2075094	G	T	rs2075094	19196962	5.08E-05	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	C	NA
5	29761861	rs9292340	C	T	rs9292340	19196962	5.19E-05	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	C	NA
5	29773999	rs16899370	T	G	rs16899370	19196962	1.73E-05	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	T	NA
5	29849609	rs10940827	C	T	rs10940827	19196962	2.37E-05	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	C	NA
5	112675099	rs11241200	T	G	rs11241200	19196962	3.45E-05	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	T	MCC
5	112676191	rs10900684	A	G	rs10900684	19196962	2.42E-05	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	G	MCC
6	41876335	rs3806113	C	T	rs3806113	19196962	2.82E-05	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	G	MED20
7	69409378	rs7785360	G	A	rs7785360	19196962	9.73E-05	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	G	AUTS2
7	126714702	rs3808122	T	C	rs3808122	19196962	4.66E-05	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	A	GRM8
8	22617365	rs17676811	G	A	rs17676811	19196962	3.63E-05	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	G	PEBP4
8	32411216	rs16879552	C	T	rs16879552	19196962	2.00E-08	NA	1.68	[1.40-2.00]	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	rs16879552-G	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	C	NRG1
8	32411499	rs7835688	G	C	rs7835688	19196962	4.77E-05	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	C	NRG1
8	32415818	rs16879557	C	T	rs16879557	19196962	4.89E-05	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	C	NRG1
9	81148338	rs1032889	A	G	rs1032889	19196962	4.89E-05	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	A	NA
9	94243567	rs7038686	G	A	rs7038686	19196962	3.47E-06	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	G	NA
10	1282828	rs3793735	T	C	rs3793735	19196962	2.04E-05	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	A	ADARB2
10	8353494	rs1999872	C	A	rs1999872	19196962	5.01E-05	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	T	NA
10	43569653	rs2505995	A	G	rs2505995	19196962	3.00E-15	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	G	NA
10	43574936	rs2506011	T	C	rs2506011	19196962	5.98E-16	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	C	RET
10	43583150	rs2435356	A	G	rs2435356	19196962	1.53E-16	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	C	RET
10	43584148	rs2506021	C	T	rs2506021	19196962	2.37E-14	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	C	RET
10	43584256	rs2435342	T	C	rs2435342	19196962	1.03E-14	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	T	RET
10	43591403	rs2505538	A	G	rs2505538	19196962	1.44E-15	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	C	RET
10	43594453	rs2505533	T	C	rs2505533	19196962	3.78E-17	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	G	RET
10	43595194	rs3123655	C	G	rs3123655	19196962	2.43E-14	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	G	RET
10	43604950	rs1864403	A	G	rs1864403	19196962	2.31E-15	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	C	RET
10	43612609	rs2742234	C	T	rs2742234	19196962	4.00E-18	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	rs2742234-T	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	C	RET
10	43620551	rs2742236	G	A	rs2742236	19196962	3.89E-09	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	G	RET
10	43622933	rs2565200	T	C	rs2565200	19196962	1.89E-17	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	G	RET
10	43623812	rs17028	C	T	rs17028	19196962	1.42E-06	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	C	RET
10	43631698	rs3004214	C	T	rs3004214	19196962	1.94E-15	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	G	NA
10	43645854	rs2505506	C	T	rs2505506	19196962	7.53E-17	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	G	CSGALNACT2
10	43683600	rs2435377	C	T	rs2435377	19196962	5.29E-17	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	A	NA
10	43734306	rs12220534	T	G	rs12220534	19196962	1.93E-16	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	T	RASGEF1A
10	43734775	rs1879310	T	C	rs1879310	19196962	1.67E-16	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	A	RASGEF1A
10	43740067	rs7093409	A	G	rs7093409	19196962	1.31E-16	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	A	RASGEF1A
10	43753532	rs7090455	C	T	rs7090455	19196962	1.65E-11	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	C	RASGEF1A
10	43769891	rs2505526	A	G	rs2505526	19196962	4.49E-09	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	T	NA
10	47684875	rs3013795	T	G	rs3013795	19196962	1.37E-05	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	C	ANTXRL
10	106916651	rs697190	C	G	rs697190	19196962	4.31E-05	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	C	SORCS3
10	116305041	rs2483596	A	G	rs2483596	19196962	4.76E-06	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	A	ABLIM1
10	117942634	rs11197571	A	G	rs11197571	19196962	8.08E-16	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	A	GFRA1
10	123795611	rs2459069	C	G	rs2459069	19196962	2.29E-06	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	C	TACC2
10	132903779	rs6482849	T	A	rs6482849	19196962	1.04E-05	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	T	TCERG1L
11	76831441	rs4259851	A	G	rs4259851	19196962	1.72E-05	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	G	CAPN5
11	76831622	rs4517554	T	C	rs4517554	19196962	3.02E-05	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	C	CAPN5
11	119700031	rs1007369	C	A	rs1007369	19196962	2.66E-06	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	T	NA
12	21268913	rs10841750	T	C	rs10841750	19196962	4.26E-05	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	T	NA
12	131164633	rs4759753	A	G	rs4759753	19196962	2.16E-07	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	A	NA
13	24043069	rs3764070	G	A	rs3764070	19196962	4.07E-12	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	G	NA
15	97798401	rs4965079	A	G	rs4965079	19196962	9.14E-05	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	A	NA
15	97800606	rs11073531	C	G	rs11073531	19196962	1.84E-05	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	C	NA
16	9794960	rs1972577	G	A	rs1972577	19196962	3.50E-05	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	A	NA
18	35645843	rs8096901	C	T	rs8096901	19196962	5.06E-05	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	T	NA
18	42048214	rs9957037	A	C	rs9957037	19196962	6.51E-06	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	C	NA
19	55357424	rs671600	T	C	rs671600	19196962	4.08E-11	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	T	KIR2DS4
20	17077510	rs16998727	G	A	rs16998727	19196962	9.82E-05	NA	NA	NA	181 Chinese ancestry cases; 346 Chinese ancestry controls	Chinese(527)	ALL(527)	ASN(527)	ALL(527)	Hirschsprung's disease	HPOID:0002250	Abnormality of the large intestine	DOID:10487	Hirschsprung's disease	D006627	Hirschsprung Disease	hirschsprung disease	Intestinal disease	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	G	NA

Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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