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	hirschsprung disease

Disease ID	48
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:31) C0009806 \| constipation \| 5 C1736133 \| congenital central hypoventilation syndrome \| 3 C1856113 \| mowat-wilson syndrome \| 3 C0238462 \| medullary thyroid carcinoma \| 2 C0010308 \| congenital hypothyroidism \| 2 C0549473 \| thyroid carcinoma \| 2 C0007115 \| thyroid ca \| 2 C0025268 \| multiple endocrine neoplasia type 2 \| 2 C0019569 \| hirschsprung's disease \| 2 C0025160 \| megacolon \| 2 C0027662 \| multiple endocrine neoplasia \| 2 C0027819 \| neuroblastoma \| 1 C0018799 \| heart diseases \| 1 C0043008 \| waardenburg syndrome \| 1 C0036992 \| short gut syndrome \| 1 C0009806 \| constipated \| 1 C0010690 \| cystinosis \| 1 C0007570 \| celiac disease \| 1 C0026769 \| multiple sclerosis \| 1 C0025162 \| toxic megacolon \| 1 C0015624 \| nephropathic cystinosis \| 1 C0008625 \| chromosomal abnormality \| 1 C0018799 \| heart disease \| 1 C0265706 \| gastroschisis \| 1 C0158699 \| renal agenesis \| 1 C0752166 \| bardet-biedl syndrome \| 1 C0020255 \| hydrocephalus \| 1 C0020676 \| hypothyroidism \| 1 C0079840 \| milk allergy \| 1 C0002726 \| amyloidosis \| 1 C0021847 \| intestinal pseudo-obstruction \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:13) 8929 \| PHOX2B \| CTD_human 5979 \| RET \| CLINVAR;GHR;ORPHANET;UniProtKB-KW;UNIPROT;CTD_human 1908 \| EDN3 \| CTD_human;GHR;ORPHANET;UNIPROT;UniProtKB-KW 1910 \| EDNRB \| CTD_human;GHR;ORPHANET;UNIPROT;UniProtKB-KW 9839 \| ZEB2 \| UniProtKB-KW 3897 \| L1CAM \| CTD_human;UniProtKB-KW;UNIPROT 6663 \| SOX10 \| UniProtKB-KW 1889 \| ECE1 \| CTD_human;ORPHANET;UNIPROT;UniProtKB-KW 3084 \| NRG1 \| CTD_human;GHR 2668 \| GDNF \| CTD_human;GHR;ORPHANET;UNIPROT;UniProtKB-KW 4902 \| NRTN \| CTD_human;GHR;ORPHANET;UNIPROT;UniProtKB-KW 223117 \| SEMA3D \| ORPHANET 10512 \| SEMA3C \| ORPHANET
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:28) 9048 \| ARTN \| CIPHER 8313 \| AXIN2 \| CIPHER 1910 \| EDNRB \| CIPHER;CTD_human 2668 \| GDNF \| CIPHER;CTD_human 3084 \| NRG1 \| CIPHER;CTD_human 4902 \| NRTN \| CIPHER;CTD_human 4916 \| NTRK3 \| CIPHER 8929 \| PHOX2B \| CIPHER;CTD_human 5623 \| PSPN \| CIPHER 5979 \| RET \| CIPHER;CTD_human 1908 \| EDN3 \| CIPHER;CTD_human 2674 \| GFRA1 \| CIPHER 2675 \| GFRA2 \| CIPHER 2676 \| GFRA3 \| CIPHER 64096 \| GFRA4 \| CIPHER 3209 \| HOXA13 \| CIPHER 3217 \| HOXB7 \| CIPHER 3549 \| IHH \| CIPHER 221002 \| RASGEF1A \| CIPHER 6663 \| SOX10 \| CIPHER 7270 \| TTF1 \| CIPHER 404719 \| HSCR8 \| CTD_human 404720 \| HSCR5 \| CTD_human 246321 \| HSCR6 \| CTD_human 100188850 \| HSCR9 \| CTD_human 246322 \| HSCR7 \| CTD_human 1889 \| ECE1 \| CTD_human 3897 \| L1CAM \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:107) 121536 \| AEBP2 \| 2.632 \| DISEASES 79026 \| AHNAK \| 1.343 \| DISEASES 50650 \| ARHGEF3 \| 1.656 \| DISEASES 57492 \| ARID1B \| 1.722 \| DISEASES 9048 \| ARTN \| 3.238 \| DISEASES 653 \| BMP5 \| 1.103 \| DISEASES 796 \| CALCA \| 1.918 \| DISEASES 9425 \| CDYL \| 2.344 \| DISEASES 9350 \| CER1 \| 1.799 \| DISEASES 1103 \| CHAT \| 1.402 \| DISEASES 1107 \| CHD3 \| 1.464 \| DISEASES 1123 \| CHN1 \| 1.225 \| DISEASES 55454 \| CSGALNACT2 \| 2.204 \| DISEASES 8727 \| CTNNAL1 \| 1.725 \| DISEASES 1621 \| DBH \| 2.533 \| DISEASES 27042 \| DIEXF \| 2.189 \| DISEASES 8110 \| DPF3 \| 2.317 \| DISEASES 1826 \| DSCAM \| 1.186 \| DISEASES 1889 \| ECE1 \| 3.74 \| DISEASES 9718 \| ECE2 \| 1.244 \| DISEASES 1906 \| EDN1 \| 1.561 \| DISEASES 1908 \| EDN3 \| 6.395 \| DISEASES 1910 \| EDNRB \| 8.11 \| DISEASES 1995 \| ELAVL3 \| 2.821 \| DISEASES 2173 \| FABP7 \| 2.221 \| DISEASES 221303 \| FAM162B \| 3.051 \| DISEASES 2566 \| GABRG2 \| 1.572 \| DISEASES 2596 \| GAP43 \| 1.623 \| DISEASES 2668 \| GDNF \| 6.059 \| DISEASES 2674 \| GFRA1 \| 4.819 \| DISEASES 2675 \| GFRA2 \| 3.169 \| DISEASES 2741 \| GLRA1 \| 1.11 \| DISEASES 2762 \| GMDS \| 2.08 \| DISEASES 2885 \| GRB2 \| 1.712 \| DISEASES 2868 \| GRK4 \| 1.372 \| DISEASES 79712 \| GTDC1 \| 3.334 \| DISEASES 57657 \| HCN3 \| 1.854 \| DISEASES 100316868 \| HOTTIP \| 1.341 \| DISEASES 3201 \| HOXA4 \| 2.323 \| DISEASES 3363 \| HTR7 \| 1.262 \| DISEASES 8518 \| IKBKAP \| 1.545 \| DISEASES 80789 \| INTS5 \| 1.995 \| DISEASES 3714 \| JAG2 \| 1.361 \| DISEASES 3768 \| KCNJ12 \| 1.38 \| DISEASES 3800 \| KIF5C \| 1.736 \| DISEASES 3897 \| L1CAM \| 1.411 \| DISEASES 4133 \| MAP2 \| 1.407 \| DISEASES 5602 \| MAPK10 \| 2.005 \| DISEASES 51360 \| MBTPS2 \| 3.083 \| DISEASES 4204 \| MECP2 \| 1.51 \| DISEASES 56917 \| MEIS3 \| 2.182 \| DISEASES 29116 \| MYLIP \| 1.172 \| DISEASES 399687 \| MYO18A \| 1.992 \| DISEASES 26509 \| MYOF \| 1.005 \| DISEASES 10763 \| NES \| 1.881 \| DISEASES 7080 \| NKX2-1 \| 2.037 \| DISEASES 22871 \| NLGN1 \| 2.091 \| DISEASES 114548 \| NLRP3 \| 1.982 \| DISEASES 9241 \| NOG \| 1.338 \| DISEASES 4842 \| NOS1 \| 2.367 \| DISEASES 51070 \| NOSIP \| 2.573 \| DISEASES 594857 \| NPS \| 2.702 \| DISEASES 4887 \| NPY2R \| 1.216 \| DISEASES 3084 \| NRG1 \| 3.585 \| DISEASES 10718 \| NRG3 \| 3.048 \| DISEASES 140767 \| NRSN1 \| 1.803 \| DISEASES 4908 \| NTF3 \| 2.334 \| DISEASES 4916 \| NTRK3 \| 1.827 \| DISEASES 5077 \| PAX3 \| 3.431 \| DISEASES 65979 \| PHACTR4 \| 3.073 \| DISEASES 51230 \| PHF20 \| 1.044 \| DISEASES 84720 \| PIGO \| 2.861 \| DISEASES 5324 \| PLAG1 \| 1.559 \| DISEASES 5453 \| POU3F1 \| 1.017 \| DISEASES 5727 \| PTCH1 \| 1.287 \| DISEASES 8643 \| PTCH2 \| 2.406 \| DISEASES 5697 \| PYY \| 1.025 \| DISEASES 221002 \| RASGEF1A \| 3.602 \| DISEASES 221662 \| RBM24 \| 2.446 \| DISEASES 9939 \| RBM8A \| 1.906 \| DISEASES 5979 \| RET \| 7.105 \| DISEASES 353116 \| RILPL1 \| 1.119 \| DISEASES 6023 \| RMRP \| 1.785 \| DISEASES 6091 \| ROBO1 \| 1.995 \| DISEASES 25970 \| SH2B1 \| 1.573 \| DISEASES 6464 \| SHC1 \| 3.107 \| DISEASES 27181 \| SIGLEC8 \| 1.552 \| DISEASES 283652 \| SLC24A5 \| 1.383 \| DISEASES 1811 \| SLC26A3 \| 1.109 \| DISEASES 54716 \| SLC6A20 \| 2.546 \| DISEASES 9353 \| SLIT2 \| 1.462 \| DISEASES 6586 \| SLIT3 \| 1.329 \| DISEASES 6525 \| SMTN \| 1.017 \| DISEASES 6080 \| SNORA73A \| 1.452 \| DISEASES 6625 \| SNRNP70 \| 1.25 \| DISEASES 6663 \| SOX10 \| 6.46 \| DISEASES 6736 \| SRY \| 3.03 \| DISEASES 11075 \| STMN2 \| 1.235 \| DISEASES 79987 \| SVEP1 \| 1.939 \| DISEASES 6863 \| TAC1 \| 3.571 \| DISEASES 7054 \| TH \| 1.222 \| DISEASES 9220 \| TIAF1 \| 2.231 \| DISEASES 113457 \| TUBA3D \| 1.13 \| DISEASES 7432 \| VIP \| 3.725 \| DISEASES 7478 \| WNT8A \| 1.673 \| DISEASES 7479 \| WNT8B \| 1.717 \| DISEASES 152485 \| ZNF827 \| 2.583 \| 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	48
Disease	hirschsprung disease
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:16) HP:0100031 \| Neoplasm of the thyroid gland HP:0005214 \| Intestinal obstruction HP:0012719 \| Functional abnormality of the gastrointestinal tract HP:0100806 \| Sepsis HP:0200008 \| Intestinal polyposis HP:0002014 \| Diarrhea HP:0004322 \| Short stature HP:0001531 \| Failure to thrive in infancy HP:0001181 \| Adducted thumb HP:0001824 \| Weight loss HP:0002017 \| Nausea and vomiting HP:0002019 \| Constipation HP:0002027 \| Abdominal pain HP:0002251 \| Aganglionic megacolon HP:0000407 \| Sensorineural hearing impairment HP:0001249 \| Intellectual disability
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:33) HP:0002251 \| Hirschsprung megacolon \| 6 HP:0002019 \| Dyschezia \| 5 HP:0002791 \| Under breathing \| 4 HP:0007110 \| Central hypoventilation \| 4 HP:0004387 \| Enterocolitis \| 3 HP:0002607 \| Anal incontinence \| 2 HP:0002890 \| Thyroid carcinoma \| 2 HP:0000851 \| Congenital hypothyroidism \| 2 HP:0002865 \| Medullary thyroid carcinoma \| 2 HP:0030731 \| Carcinoma \| 2 HP:0003270 \| Distended abdomen \| 1 HP:0011286 \| Total colonic aganglionosis \| 1 HP:0001543 \| Gastroschisis \| 1 HP:0000821 \| Underactive thyroid \| 1 HP:0000072 \| Megaureter \| 1 HP:0012450 \| Chronic constipation \| 1 HP:0000201 \| Pierre-robin deformity \| 1 HP:0100327 \| Cow milk allergy \| 1 HP:0000122 \| Unilateral kidney agenesis \| 1 HP:0012393 \| Allergy \| 1 HP:0002608 \| Celiac disease \| 1 HP:0011034 \| Amyloid disease \| 1 HP:0002079 \| Hypoplasia of the corpus callosum \| 1 HP:0003006 \| Neuroblastoma \| 1 HP:0010442 \| Polydactyly \| 1 HP:0001257 \| Spasticity \| 1 HP:0000506 \| Telecanthus \| 1 HP:0004389 \| Intestinal pseudo-obstruction \| 1 HP:0010448 \| Large intestinal atresia \| 1 HP:0100806 \| Sepsis \| 1 HP:0000238 \| Nonsyndromal hydrocephalus \| 1 HP:0030853 \| Heterotaxy \| 1 HP:0000104 \| Renal agenesis \| 1

Disease ID	48
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 C0015732 \| fecal incontinence \| 2 C1736133 \| congenital central hypoventilation syndrome \| 2 C0266190 \| colonic atresia \| 1 C0752166 \| bardet-biedl syndrome \| 1 C0401149 \| chronic constipation \| 1 C0008625 \| chromosomal abnormality \| 1

Manually Genotype(Total Manually Genotypes:3)
Gene	Mutation	DOI	Article Title
DNMT3B	p.Gly25Arg	doi:10.1038/gim.2014.17	Involvement of DNMT3B in the pathogenesis of Hirschsprung disease and its possible role as a regulator of neurogenesis in the human enteric nervous system
DNMT3B	p.Arg190Cys	doi:10.1038/gim.2014.17	Involvement of DNMT3B in the pathogenesis of Hirschsprung disease and its possible role as a regulator of neurogenesis in the human enteric nervous system
DNMT3B	p.Gly198Trp	doi:10.1038/gim.2014.17	Involvement of DNMT3B in the pathogenesis of Hirschsprung disease and its possible role as a regulator of neurogenesis in the human enteric nervous system

Text Mining Genotype(Total 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:7)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001531	Failure to thrive in infancy	MP:0020157	abnormal behavioral response to alcohol	any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0000407	Sensorineural hearing impairment	MP:0006330	syndromic hearing impairment	hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms
HP:0005214	Intestinal obstruction	MP:0003587	ureter obstruction	a partial or total blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder; may be congenital, acquired, unilateral, bilateral, acute or chronic
HP:0002251	Aganglionic megacolon	MP:0002926	aganglionic megacolon	extreme dilation of the colon due to defects in innervation from the ganglia, or absence of the ganglia of the myenteric plexus
HP:0100031	Neoplasm of the thyroid gland	MP:0010316	increased thyroid tumor incidence	greater than the expected number of neoplams in the thyroid occurring in a specific population in a given time period
HP:0002017	Nausea and vomiting	MP:0010426	abnormal heart and great artery attachment	any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta
HP:0001824	Weight loss	MP:0005114	premature hair loss	release of fur at an earlier than expected time

Mapped by homologous gene(Total Items:15)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0200008	Intestinal polyposis	MP:0014171	increased fatty acid oxidation	increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr
HP:0005214	Intestinal obstruction	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0100806	Sepsis	MP:0011708	decreased fibroblast cell migration	reduced frequency of or less rapid fibroblast cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium
HP:0000407	Sensorineural hearing impairment	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0100031	Neoplasm of the thyroid gland	MP:0014171	increased fatty acid oxidation	increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr
HP:0001824	Weight loss	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0002251	Aganglionic megacolon	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0001181	Adducted thumb	MP:0014185	cerebellum atrophy	acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal
HP:0001531	Failure to thrive in infancy	MP:0020157	abnormal behavioral response to alcohol	any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0002027	Abdominal pain	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0001249	Intellectual disability	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0002019	Constipation	MP:0020234	decreased basal metabolism	decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0002014	Diarrhea	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0002017	Nausea and vomiting	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0004322	Short stature	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l

Disease ID	48
Disease	hirschsprung disease
Case	(Waiting for update.)