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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Hirschsprung's disease
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Accession:DOID:10487 term browser browse the term
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.
Synonyms:exact_synonym: HSCR;   HSCR1;   HSCR2;   HSCR3;   HSCR4;   HSCR5;   HSCR6;   HSCR7;   HSCR8;   HSCR9;   Hirschsprung disease;   Hirschsprungs disease;   MGC;   aganglionic megacolon;   colonic aganglionosis;   congenital intestinal aganglionosis;   congenital megacolon;   macrocolon;   pelvirectal achalasia;   rectosigmoid aganglionosis;   rectosigmoid colon aganglionosis;   total colonic aganglionosis
 narrow_synonym: Hirschsprung disease, dominant;   Hirschsprung disease, recessive
 related_synonym: Hirschsprung Disease, Susceptibility to, 1;   Hirschsprung Disease, Susceptibility to, 2;   Hirschsprung Disease, Susceptibility to, 3;   Hirschsprung Disease, Susceptibility to, 4;   Hirschsprung Disease, Susceptibility to, 5;   Hirschsprung Disease, Susceptibility to, 6;   Hirschsprung Disease, Susceptibility to, 7;   Hirschsprung Disease, Susceptibility to, 8;   Hirschsprung Disease, Susceptibility to, 9;   Hirschsprung disease, protection against
 primary_id: MESH:D006627
 alt_id: OMIM:142623;   OMIM:600155;   OMIM:600156;   OMIM:606874;   OMIM:606875;   OMIM:608462;   OMIM:611644;   OMIM:613711;   OMIM:613712;   RDO:0000841
 xref: GARD:6660;   ICD10CM:Q43.1;   NCI:C34700;   OMIM:PS142623;   ORDO:388
For additional species annotation, visit the Alliance of Genome Resources.

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Hirschsprung's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 4:154,309,426...154,359,138
Ensembl chr 4:154,309,426...154,359,137 		JBrowse link
G Ache acetylcholinesterase ISO RGD PMID:21991983 RGD:5509847 NCBI chr12:22,472,358...22,477,052
Ensembl chr12:22,472,358...22,478,753 		JBrowse link
G Aebp2 AE binding protein 2 ISS OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 MouseDO NCBI chr 4:174,799,378...174,863,260
Ensembl chr 4:174,810,959...174,863,260 		JBrowse link
G Arhgap22 Rho GTPase activating protein 22 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:9,454,269...9,613,508
Ensembl chr16:9,486,832...9,613,528 		JBrowse link
G Asah2 N-acylsphingosine amidohydrolase 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 1:250,557,042...250,665,083
Ensembl chr 1:250,557,044...250,630,677 		JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 9:78,862,013...78,882,061
Ensembl chr 9:78,862,013...78,882,060 		JBrowse link
G Axin2 axin 2 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:21626677 PMID:25260786 PMID:25637381 PMID:27696107 PMID:28492532 PMID:29641532 NCBI chr10:97,212,483...97,238,824
Ensembl chr10:97,212,432...97,239,642 		JBrowse link
G Bmi1 BMI1 proto-oncogene, polycomb ring finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:29429387 NCBI chr17:85,360,439...85,370,283
Ensembl chr17:85,364,483...85,368,208 		JBrowse link
G Cavin2 caveolae associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25792468 NCBI chr 9:55,244,136...55,256,153
Ensembl chr 9:55,243,255...55,256,340 		JBrowse link
G Cd14 CD14 molecule IEP protein:increased expression:intestine: RGD PMID:15117676 RGD:7193054 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676 		JBrowse link
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131 		JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr18:407,517...414,110
Ensembl chr18:408,219...410,098 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217 		JBrowse link
G Ctxnd1 cortexin domain containing 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 1:146,659,395...146,706,084 JBrowse link
G Dennd3 DENN domain containing 3 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 7:114,724,644...114,812,471
Ensembl chr 7:114,724,610...114,812,708 		JBrowse link
G Depdc1 DEP domain containing 1 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 2:264,704,738...264,738,265
Ensembl chr 2:264,704,769...264,738,257 		JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294 		JBrowse link
G Dppa5 developmental pluripotency associated 5 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 8:85,711,560...85,713,313
Ensembl chr 8:85,711,795...85,712,647
Ensembl chr 7:85,711,795...85,712,647
Ensembl chr 3:85,711,795...85,712,647 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Hirschsprung Disease ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 PMID:9439663 PMID:9470816 PMID:9686374 PMID:10071185 PMID:10657402 PMID:10803677 PMID:11156223 PMID:11350878 PMID:11555601 PMID:11895907 PMID:11953843 PMID:11988088 PMID:12209976 PMID:12360106 PMID:12912951 PMID:15017333 PMID:15858133 PMID:16151913 PMID:16361556 PMID:17000685 PMID:17064846 PMID:17121937 PMID:17165084 PMID:17203168 PMID:17335544 PMID:17700593 PMID:18299612 PMID:18443386 PMID:18600527 PMID:19104657 PMID:19473056 PMID:19795123 PMID:19858398 PMID:20385995 PMID:20507294 PMID:20530282 PMID:20803296 PMID:20809970 PMID:20819423 PMID:21410976 PMID:21498394 PMID:21723269 PMID:21919607 PMID:22339448 PMID:22992668 PMID:23328581 PMID:23335937 PMID:23481061 PMID:23585145 PMID:23603345 PMID:23736036 PMID:23930673 PMID:24167597 PMID:24590654 PMID:24647007 PMID:24648345 PMID:24700034 PMID:24817302 PMID:24923815 PMID:25381393 PMID:25410891 PMID:25590979 PMID:25677447 PMID:25741868 PMID:26099996 PMID:26216193 PMID:26265035 PMID:26467025 PMID:26603945 PMID:26794347 PMID:26804652 PMID:26846104 PMID:26967565 PMID:27454530 PMID:27738344 PMID:27864592 PMID:28295243 PMID:28481884 PMID:28929491 PMID:29065426 PMID:29134491 PMID:29152729 PMID:30348537 NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627 		JBrowse link
G Drgx dorsal root ganglia homeobox ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:8,823,872...8,853,430
Ensembl chr16:8,823,872...8,853,430 		JBrowse link
G Dscam DS cell adhesion molecule ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr11:37,004,776...37,599,866
Ensembl chr11:37,004,902...37,253,776 		JBrowse link
G Ece1 endothelin converting enzyme 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hirschsprung disease		 CTD
ClinVar		 PMID:9915973 NCBI chr 5:156,215,469...156,318,652
Ensembl chr 5:156,215,417...156,318,671 		JBrowse link
G Edn3 endothelin 3 susceptibility ISO DNA:point mutation:exon:A17T, A224T
ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: Hirschsprung Disease, Dominant
ClinVar Annotator: match by term: Hirschsprung disease
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:613712		 ClinVar
OMIM
CTD		 PMID:8630502 PMID:8630503 PMID:8696331 PMID:8896568 PMID:9359047 PMID:9587491 PMID:10231870 PMID:14633923 PMID:19556619 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27535533 PMID:28492532, PMID:9359047 RGD:1601003 NCBI chr 3:172,856,730...172,879,276
Ensembl chr 3:172,856,733...172,880,450 		JBrowse link
G Ednrb endothelin receptor type B susceptibility
treatment		 ISO
IAGP
IMP		 DNA:point mutation:exon:W276C
ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar Annotator: match by term: Hirschsprung Disease, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:600155		 ClinVar
OMIM
CTD		 PMID:8001158 PMID:8852658 PMID:8852659 PMID:8852660 PMID:8896568 PMID:9359036 PMID:9760196 PMID:10090908 PMID:10458491 PMID:10664228 PMID:10874640 PMID:14633923 PMID:16145050 PMID:16944573 PMID:16954478 PMID:17011274 PMID:17223014 PMID:18162831 PMID:19320733 PMID:20009762 PMID:21507037 PMID:22993632 PMID:22995991 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27535533 PMID:27639823 PMID:28492532 PMID:29407415, PMID:8001158, PMID:22132166, PMID:21915282, PMID:9739043, PMID:8589685 RGD:1601008, RGD:6480215, RGD:6480217, RGD:628516, RGD:1342447 NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354 		JBrowse link
G Ednrbsl endothelin receptor type B, spotting lethal IAGP RGD PMID:21915282, PMID:22132166 RGD:6480217, RGD:6480215
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO
ISS		 OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 MouseDO PMID:12526770 RGD:734940 NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610 		JBrowse link
G Etfdh electron transfer flavoprotein dehydrogenase ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 2:178,367,547...178,389,641
Ensembl chr 2:178,367,549...178,389,608 		JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534 		JBrowse link
G Fam170b family with sequence similarity 170, member B ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:9,074,044...9,076,885
Ensembl chr16:9,074,033...9,076,865 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 ClinVar PMID:25741868 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120 		JBrowse link
G Fhit fragile histidine triad diadenosine triphosphatase ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr15:15,697,292...16,862,873 JBrowse link
G Flg filaggrin ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 2:193,565,401...193,574,297 JBrowse link
G Fmn2 formin 2 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr13:92,569,256...92,887,302 JBrowse link
G Fn1 fibronectin 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078 		JBrowse link
G Frmpd2 FERM and PDZ domain containing 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:9,745,171...9,879,490 JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr18:401,878...407,954
Ensembl chr18:402,295...407,954 		JBrowse link
G Gdnf glial cell derived neurotrophic factor susceptibility ISO ClinVar Annotator: match by OMIM:613711
ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: Hirschsprung Disease, Dominant
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:8896568 PMID:8896569 PMID:8968758 PMID:9215674 PMID:9359036 PMID:9497256 PMID:10790203 PMID:10917288 PMID:11565554 PMID:11823451 PMID:12640453 PMID:19184120 PMID:21206993 PMID:22729463 PMID:24033266 PMID:24997227 PMID:25741868 PMID:28492532 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238 		JBrowse link
G Gfra1 GDNF family receptor alpha 1 ISO
ISS		 ClinVar Annotator: match by term: Hirschsprung disease
OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712		 ClinVar
MouseDO		 PMID:17507417 RGD:6218967 NCBI chr 1:279,203,046...279,572,789 JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:missense mutation:cds:p.K173N (human) (rs1065411) RGD PMID:20661602 RGD:12792222 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:missense mutation:cds:p.V155I (human) (rs2266637) RGD PMID:20661602 RGD:12792222 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526 		JBrowse link
G Hdac8 histone deacetylase 8 ISO protein:decreased expression:colon (human) RGD PMID:16771768 RGD:13208819 NCBI chr  X:72,163,777...72,370,058
Ensembl chr  X:72,163,777...72,370,044 		JBrowse link
G Hic2 HIC ZBTB transcriptional repressor 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr11:87,988,213...88,016,825
Ensembl chr11:87,988,213...88,016,825 		JBrowse link
G Ihh Indian hedgehog signaling molecule ISS OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 MouseDO NCBI chr 9:82,208,223...82,214,440
Ensembl chr 9:82,208,223...82,214,440 		JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr16:74,177,233...74,230,809
Ensembl chr16:74,177,215...74,230,815 		JBrowse link
G Iqcf5 IQ motif containing F5 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 8:115,213,469...115,214,854
Ensembl chr 8:115,213,471...115,214,895 		JBrowse link
G Itgb1 integrin subunit beta 1 ISS OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 MouseDO NCBI chr19:61,677,512...61,725,537
Ensembl chr19:61,677,542...61,725,535 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO protein:decreased expression:aganglionic colon:
protein:decreased expression:intestine smooth muscle"		 RGD PMID:8831584, PMID:9247236 RGD:12910727, RGD:12910747 NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610 		JBrowse link
G Klrg1 killer cell lectin like receptor G1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 4:155,038,936...155,051,449
Ensembl chr 4:155,039,628...155,051,429 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:21395909 RGD:6483043 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057 		JBrowse link
G L3mbtl4 L3MBTL histone methyl-lysine binding protein 4 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 9:116,521,937...116,689,388 JBrowse link
G Lingo2 leucine rich repeat and Ig domain containing 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 5:51,466,367...51,638,161 JBrowse link
G LOC680885 hypothetical protein LOC680885 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:8,553,711...8,564,380
Ensembl chr16:8,553,768...8,564,379 		JBrowse link
G Lrrc18 leucine rich repeat containing 18 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:9,234,341...9,258,849
Ensembl chr16:9,235,888...9,258,538 		JBrowse link
G Man2a2 mannosidase, alpha, class 2A, member 2 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 1:142,141,695...142,164,561
Ensembl chr 1:142,143,799...142,164,263 		JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:9,620,854...9,709,342
Ensembl chr16:9,625,177...9,709,347 		JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr11:87,553,868...87,628,631
Ensembl chr11:87,553,868...87,628,502 		JBrowse link
G Mir128-1 microRNA 128-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29429387 NCBI chr13:44,916,534...44,916,615
Ensembl chr13:44,916,534...44,916,615 		JBrowse link
G Mir195 microRNA 195 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25007945 NCBI chr10:56,845,301...56,845,387
Ensembl chr10:56,845,301...56,845,387 		JBrowse link
G Mir206 microRNA 206 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25792468 NCBI chr 9:26,791,764...26,791,847
Ensembl chr 9:26,791,764...26,791,847 		JBrowse link
G Msmb microseminoprotein, beta ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:8,280,275...8,300,853
Ensembl chr16:8,280,275...8,300,852 		JBrowse link
G Mtcp1 mature T-cell proliferation 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr18:411,159...411,934
Ensembl chr18:411,455...411,849 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:25741868 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730 		JBrowse link
G Ncoa4 nuclear receptor coactivator 4 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:8,302,950...8,323,294
Ensembl chr16:8,302,950...8,323,293 		JBrowse link
G Ngfr nerve growth factor receptor ISO protein:decreased expression:lamina propria:lack of staining is a marker for HD (human) RGD PMID:7807351 RGD:5508387 NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061 		JBrowse link
G Notch4 notch receptor 4 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr20:4,329,794...4,353,868
Ensembl chr20:4,329,811...4,353,785 		JBrowse link
G Nrg1 neuregulin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22974608 NCBI chr16:62,969,573...64,065,063
Ensembl chr16:63,837,216...64,057,434 		JBrowse link
G Nrg3 neuregulin 3 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:28492532 NCBI chr16:15,763,031...16,932,208
Ensembl chr16:15,764,632...15,798,974 		JBrowse link
G Nrtn neurturin ISO RGD PMID:9700200 RGD:1600267 NCBI chr 9:10,299,881...10,306,599
Ensembl chr 9:10,305,470...10,306,597 		JBrowse link
G Ntf3 neurotrophin 3 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 4:158,636,883...158,705,886
Ensembl chr 4:158,636,884...158,705,886 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO protein:altered expression:intestine RGD PMID:8943115 RGD:5684546 NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373 		JBrowse link
G Nup98 nucleoporin 98 and 96 precursor ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 1:167,213,866...167,308,851
Ensembl chr 1:167,213,866...167,308,851 		JBrowse link
G Oas3 2'-5'-oligoadenylate synthetase 3 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr12:41,313,081...41,368,217
Ensembl chr12:41,316,764...41,336,562 		JBrowse link
G Ogdhl oxoglutarate dehydrogenase L ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:8,497,495...8,523,552
Ensembl chr16:8,497,569...8,523,557 		JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 1:220,515,117...220,645,611
Ensembl chr 1:220,516,316...220,644,636 		JBrowse link
G Parg poly (ADP-ribose) glycohydrolase ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:8,350,168...8,457,999
Ensembl chr16:8,350,326...8,457,996 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr20:14,952,213...15,334,745
Ensembl chr20:14,952,213...15,334,745 		JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr20:12,943,523...13,038,615
Ensembl chr20:12,944,786...13,038,431 		JBrowse link
G Phax phosphorylated adaptor for RNA export ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr18:51,662,294...51,678,981
Ensembl chr18:51,662,294...51,678,980 		JBrowse link
G Phox2b paired-like homeobox 2b ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr14:42,711,169...42,718,707
Ensembl chr14:42,714,315...42,717,010 		JBrowse link
G Phrf1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 1:214,215,673...214,248,906
Ensembl chr 1:214,215,992...214,248,901 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:25741868 NCBI chr 5:58,461,055...58,470,699
Ensembl chr 5:58,461,759...58,469,399 		JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 7:120,380,543...120,392,214
Ensembl chr 7:120,380,544...120,390,954 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr12:23,998,411...24,017,063
Ensembl chr12:23,998,411...24,046,814 		JBrowse link
G Ppid peptidylprolyl isomerase D ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 2:178,354,830...178,366,843
Ensembl chr 2:178,354,890...178,366,685 		JBrowse link
G Prokr1 prokineticin receptor 1 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 4:119,375,790...119,386,551
Ensembl chr 4:119,375,778...119,386,590 		JBrowse link
G Ret ret proto-oncogene susceptibility ISO ClinVar Annotator: match by term: Hirschsprung disease
ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
ClinVar Annotator: match by term: Hirschsprung's disease
ClinVar Annotator: match by term: Hirschsprung Disease, Dominant
DNA:SNPs:exon, intron:multiple
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hirschsprung disease, protection against		 ClinVar
OMIM
CTD		 PMID:7581377 PMID:7633441 PMID:7647787 PMID:7849720 PMID:7874109 PMID:7881414 PMID:8103403 PMID:8114938 PMID:8114939 PMID:8765374 PMID:8797874 PMID:8807338 PMID:8896568 PMID:8909322 PMID:8918855 PMID:9012462 PMID:9047383 PMID:9067749 PMID:9068588 PMID:9090527 PMID:9146685 PMID:9230192 PMID:9384613 PMID:9497256 PMID:9502784 PMID:9506724 PMID:9681852 PMID:9727738 PMID:9760196 PMID:9820617 PMID:9879991 PMID:10528857 PMID:10646792 PMID:10790203 PMID:10921886 PMID:10982477 PMID:11230481 PMID:11694544 PMID:11955539 PMID:12000816 PMID:12205548 PMID:12566528 PMID:12640453 PMID:12686527 PMID:12711285 PMID:14561794 PMID:14566559 PMID:14627689 PMID:14633923 PMID:14715928 PMID:15320968 PMID:15472167 PMID:15531714 PMID:15741265 PMID:15744028 PMID:15753368 PMID:15771139 PMID:15829955 PMID:15834508 PMID:15858153 PMID:15870131 PMID:16118333 PMID:16322339 PMID:16388093 PMID:16441254 PMID:16565500 PMID:16705552 PMID:16707008 PMID:16712668 PMID:16868135 PMID:16928683 PMID:16986122 PMID:17021738 PMID:17102091 PMID:17108762 PMID:17188172 PMID:17316110 PMID:17372903 PMID:17483988 PMID:17610518 PMID:17895320 PMID:18058472 PMID:18062802 PMID:18063059 PMID:18206480 PMID:18322301 PMID:19029228 PMID:19336503 PMID:19469690 PMID:19826964 PMID:19853744 PMID:19906784 PMID:20080836 PMID:20152359 PMID:20456320 PMID:20473317 PMID:20516206 PMID:20598273 PMID:20956458 PMID:20979234 PMID:20981092 PMID:21311890 PMID:21479187 PMID:21490379 PMID:21551259 PMID:21655256 PMID:21765987 PMID:21810974 PMID:21986619 PMID:21995290 PMID:22174939 PMID:22395866 PMID:22574178 PMID:22584710 PMID:22648184 PMID:22703879 PMID:22729463 PMID:22837065 PMID:22995991 PMID:23067224 PMID:23084198 PMID:23527089 PMID:23723040 PMID:23744765 PMID:24033266 PMID:24055113 PMID:24134185 PMID:24336963 PMID:24375508 PMID:24728327 PMID:24805091 PMID:25425582 PMID:25637381 PMID:25694125 PMID:25741868 PMID:25950813 PMID:26071011 PMID:26206375 PMID:26332594 PMID:26395553 PMID:26467025 PMID:26489027 PMID:26556299 PMID:27153395 PMID:27207748 PMID:27379493 PMID:27525386 PMID:27847096 PMID:27884173 PMID:28018431 PMID:28099363 PMID:28492532 PMID:28946813 PMID:29020875 PMID:29338689 PMID:30031151 PMID:30122538 PMID:30197081 PMID:30349395 PMID:30644554 PMID:31510104, PMID:24897126 RGD:12910713 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372 		JBrowse link
G RGD1560010 RGD1560010 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 2:178,389,986...178,393,118
Ensembl chr 2:178,389,799...178,393,113 		JBrowse link
G RGD1564899 similar to chromosome 10 open reading frame 71 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:8,879,907...8,907,462
Ensembl chr16:8,881,138...8,885,797 		JBrowse link
G Rxfp1 relaxin family peptide receptor 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 2:178,402,411...178,520,213
Ensembl chr 2:178,399,274...178,521,038 		JBrowse link
G Sema3d semaphorin 3D ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:19,224,378...19,413,519
Ensembl chr 4:19,224,310...19,413,484 		JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 1:250,692,448...250,951,685
Ensembl chr 1:250,691,370...250,951,697 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:20972907 RGD:12801434 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691 		JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:8,682,668...8,685,529
Ensembl chr16:8,682,669...8,685,529 		JBrowse link
G Slc22a1 solute carrier family 22 member 1 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 1:48,273,639...48,300,645
Ensembl chr 1:48,273,611...48,300,655 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:10975929 RGD:12879497 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897 		JBrowse link
G Slc8a1 solute carrier family 8 member A1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 6:4,244,076...4,564,262
Ensembl chr 6:4,258,991...4,520,604 		JBrowse link
G Snf8 SNF8 subunit of ESCRT-II ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr10:83,856,331...83,868,621
Ensembl chr10:83,856,280...83,868,598 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO DNA:frameshift:cds:
ClinVar Annotator: match by term: Hirschsprung disease		 ClinVar PMID:9560246 RGD:12802335 NCBI chr 7:120,393,238...120,403,523
Ensembl chr 7:120,393,254...120,403,523 		JBrowse link
G Stx1a syntaxin 1A ISO RGD PMID:11345516 RGD:1581432 NCBI chr12:24,682,050...24,710,002
Ensembl chr12:24,682,041...24,710,019 		JBrowse link
G Tbata thymus, brain and testes associated ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr20:30,786,239...30,804,354
Ensembl chr20:30,791,422...30,804,165 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Hirschsprung Disease ClinVar PMID:25741868 PMID:26017485 PMID:28492532 NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030 		JBrowse link
G Timm23 translocase of inner mitochondrial membrane 23 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:8,324,038...8,350,067
Ensembl chr16:8,324,036...8,350,067 		JBrowse link
G Tmem165 transmembrane protein 165 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr14:34,503,037...34,528,262
Ensembl chr14:34,503,038...34,528,262 		JBrowse link
G Tmem273 transmembrane protein 273 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:9,023,387...9,054,664
Ensembl chr16:9,023,387...9,054,664 		JBrowse link
G Utp25 UTP25, small subunit processor component ISO CTD Direct Evidence: marker/mechanism CTD PMID:25007945 NCBI chr13:111,828,052...111,849,654
Ensembl chr13:111,828,043...111,849,653 		JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:24033266 PMID:25741868 NCBI chr15:3,455,211...3,544,738
Ensembl chr15:3,455,211...3,544,702 		JBrowse link
G Vstm4 V-set and transmembrane domain containing 4 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:9,088,142...9,172,855
Ensembl chr16:9,092,302...9,172,888 		JBrowse link
G Wdfy4 WDFY family member 4 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:9,194,446...9,430,764
Ensembl chr16:9,194,424...9,430,743 		JBrowse link
G Wnt8b Wnt family member 8B ISO RGD PMID:20972907 RGD:12801434 NCBI chr 1:264,244,150...264,266,136
Ensembl chr 1:264,260,505...264,264,302 		JBrowse link
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr10:63,884,338...63,921,709
Ensembl chr10:63,884,338...63,921,709 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO Mowat-Wilson syndrome, OMIM:235730
ClinVar Annotator: match by term: Hirschsprung disease		 ClinVar PMID:11279515 RGD:1599885 NCBI chr 3:29,857,289...29,985,932
Ensembl chr 3:29,862,473...29,996,865 		JBrowse link
G Zfp592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 1:142,833,999...142,870,997
Ensembl chr 1:142,834,157...142,870,995 		JBrowse link
cartilage-hair hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, McKusick type ClinVar PMID:8034306 PMID:9156319 PMID:10026268 PMID:11006544 PMID:11207361 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:16097009 PMID:16254002 PMID:16838329 PMID:17701897 PMID:25741868 PMID:28094436 PMID:28492532 NCBI chr 5:58,995,211...58,998,620
Ensembl chr 5:58,995,249...58,997,953 		JBrowse link
Goldberg-Shprintzen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,340,060...173,354,756
Ensembl chr 5:173,340,060...173,354,755 		JBrowse link
G Actrt2 actin-related protein T2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,077,290...172,078,690
Ensembl chr 5:172,077,282...172,078,760 		JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,589,910...173,622,813
Ensembl chr 5:173,589,819...173,622,645 		JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,237,642...173,239,899
Ensembl chr 5:173,237,642...173,239,899 		JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,189,590...173,209,809
Ensembl chr 5:173,189,592...173,209,768 		JBrowse link
G Aurkaip1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,274,433...173,276,170
Ensembl chr 5:173,256,637...173,276,169 		JBrowse link
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,423,475...173,425,611
Ensembl chr 5:173,423,475...173,425,611 		JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,390,901...173,395,276
Ensembl chr 5:173,390,901...173,395,276 		JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,256,301...173,268,279
Ensembl chr 5:173,256,637...173,276,169 		JBrowse link
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,051,900...173,078,049
Ensembl chr 5:173,052,063...173,078,046 		JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,817,221...172,884,996
Ensembl chr 5:172,825,072...172,858,053 		JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,314,219...173,318,384
Ensembl chr 5:173,314,228...173,318,313 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,295,948...173,308,014
Ensembl chr 5:173,296,270...173,307,945 		JBrowse link
G Faap20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,648,171...172,655,576
Ensembl chr 5:172,648,950...172,655,576 		JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,139,345...173,141,564 JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,797,478...172,809,374
Ensembl chr 5:172,797,450...172,809,353 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986 		JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,364,421...172,365,188
Ensembl chr 5:172,364,421...172,365,188 		JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,318,435...173,336,930
Ensembl chr 5:173,318,479...173,336,930 		JBrowse link
G Kifbp kinesin family binding protein ISO ClinVar Annotator: match by OMIM:609460
ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:15883926 PMID:18414213 PMID:23427148 PMID:24072599 PMID:25741868 PMID:26467025 PMID:28277559 PMID:28492532 NCBI chr20:32,191,731...32,211,295
Ensembl chr20:32,191,734...32,211,453 		JBrowse link
G Mib2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,082,943...173,099,353
Ensembl chr 5:173,082,943...173,098,816 		JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,489,366...173,489,454 JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,490,144...173,490,238
Ensembl chr 5:173,490,144...173,490,238 		JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,488,331...173,488,415
Ensembl chr 5:173,488,331...173,488,415 		JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,273,450...172,303,905
Ensembl chr 5:172,273,459...172,304,225 		JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,078,811...173,082,834
Ensembl chr 5:173,078,590...173,081,839 		JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,489,160...172,547,102
Ensembl chr 5:172,488,708...172,547,058 		JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,248,245...173,252,775
Ensembl chr 5:173,248,245...173,252,775 		JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,288,200...173,292,926
Ensembl chr 5:173,288,447...173,292,929 		JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,984,930...173,015,505
Ensembl chr 5:172,986,291...173,015,494 		JBrowse link
G Pank4 pantothenate kinase 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,367,593...172,384,077
Ensembl chr 5:172,367,398...172,384,269 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,469,978...172,475,144
Ensembl chr 5:172,469,978...172,475,144 		JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,386,400...172,455,965
Ensembl chr 5:172,388,598...172,424,081 		JBrowse link
G Prkcz protein kinase C, zeta ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,658,071...172,769,492
Ensembl chr 5:172,658,748...172,769,421 		JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,304,799...172,307,402
Ensembl chr 5:172,304,758...172,307,431 		JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,326,755...173,339,934
Ensembl chr 5:173,336,034...173,340,026 		JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,476,746...172,488,822
Ensembl chr 5:172,476,747...172,488,822 		JBrowse link
G RGD1311517 similar to RIKEN cDNA 9430015G10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,542,058...173,559,761
Ensembl chr 5:173,542,358...173,559,761 		JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,561,016...173,566,844 JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,425,922...173,444,478
Ensembl chr 5:173,425,907...173,444,620 		JBrowse link
G Ski SKI proto-oncogene ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:12419246 PMID:12857746 PMID:19112531 PMID:19114989 PMID:23023332 PMID:23103230 PMID:24033266 PMID:24357594 PMID:24736733 PMID:25326635 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 5:172,556,196...172,623,878
Ensembl chr 5:172,559,135...172,623,899 		JBrowse link
G Slc35e2b solute carrier family 35, member E2B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,024,335...173,050,228
Ensembl chr 5:173,024,335...173,046,194 		JBrowse link
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,152,964...173,182,720
Ensembl chr 5:173,152,964...173,182,719 		JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,307,325...173,312,950
Ensembl chr 5:173,308,870...173,312,023 		JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,182,815...173,189,683
Ensembl chr 5:173,183,990...173,188,924 		JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,887,587...172,889,349
Ensembl chr 5:172,887,217...172,889,383 		JBrowse link
G Tmem88b transmembrane protein 88B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,230,364...173,233,188
Ensembl chr 5:173,230,364...173,233,188 		JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,328,259...172,337,221
Ensembl chr 5:172,328,262...172,335,892 		JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,459,371...173,463,980
Ensembl chr 5:173,460,354...173,463,140 		JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,447,784...173,450,474
Ensembl chr 5:173,447,784...173,450,474 		JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,253,257...172,271,056
Ensembl chr 5:172,259,520...172,269,213 		JBrowse link
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,471,020...173,517,783
Ensembl chr 5:173,471,010...173,484,986 		JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,372,659...173,387,084
Ensembl chr 5:173,372,669...173,387,104 		JBrowse link
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,216,737...173,221,923
Ensembl chr 5:173,216,741...173,222,440 		JBrowse link
Hirschsprung Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahnak AHNAK nucleoprotein ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:28492532 NCBI chr 1:225,184,883...225,429,638
Ensembl chr 1:225,184,939...225,215,015 		JBrowse link
G Ccr9 C-C motif chemokine receptor 9 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 8:132,827,325...132,842,130
Ensembl chr 8:132,828,091...132,842,130 		JBrowse link
G Cluh clustered mitochondria homolog ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr10:61,432,872...61,454,445
Ensembl chr10:61,432,819...61,454,444 		JBrowse link
G Cntn5 contactin 5 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 8:7,812,371...9,033,962
Ensembl chr 8:7,814,895...8,524,643 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039 		JBrowse link
G Dennd3 DENN domain containing 3 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 7:114,724,644...114,812,471
Ensembl chr 7:114,724,610...114,812,708 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 PMID:9439663 PMID:9470816 PMID:9686374 PMID:10071185 PMID:10657402 PMID:10803677 PMID:11156223 PMID:11350878 PMID:11555601 PMID:11895907 PMID:11953843 PMID:11988088 PMID:12209976 PMID:12360106 PMID:12912951 PMID:15017333 PMID:15858133 PMID:16151913 PMID:16361556 PMID:17000685 PMID:17064846 PMID:17121937 PMID:17165084 PMID:17203168 PMID:17335544 PMID:17700593 PMID:18299612 PMID:18443386 PMID:18600527 PMID:19104657 PMID:19473056 PMID:19795123 PMID:19858398 PMID:20385995 PMID:20507294 PMID:20530282 PMID:20803296 PMID:20809970 PMID:20819423 PMID:21410976 PMID:21498394 PMID:21723269 PMID:21919607 PMID:22339448 PMID:22992668 PMID:23328581 PMID:23335937 PMID:23481061 PMID:23585145 PMID:23603345 PMID:23736036 PMID:23930673 PMID:24167597 PMID:24590654 PMID:24647007 PMID:24648345 PMID:24700034 PMID:24817302 PMID:24923815 PMID:25381393 PMID:25410891 PMID:25590979 PMID:25677447 PMID:25741868 PMID:26099996 PMID:26216193 PMID:26265035 PMID:26467025 PMID:26603945 PMID:26794347 PMID:26804652 PMID:26846104 PMID:26967565 PMID:27454530 PMID:27738344 PMID:27864592 PMID:28295243 PMID:28481884 PMID:28929491 PMID:29065426 PMID:29134491 PMID:29152729 PMID:30348537 NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:28492532 NCBI chr 8:5,217,054...5,436,969
Ensembl chr 8:5,217,217...5,429,581 		JBrowse link
G Fat3 FAT atypical cadherin 3 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 8:14,417,039...15,011,596
Ensembl chr 8:14,417,584...14,880,644 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:25741868 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238 		JBrowse link
G Gfra1 GDNF family receptor alpha 1 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 1:279,203,046...279,572,789 JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:9302279 PMID:19829694 PMID:25741868 PMID:28492532 NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036 		JBrowse link
G Ihh Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 9:82,208,223...82,214,440
Ensembl chr 9:82,208,223...82,214,440 		JBrowse link
G Irak3 interleukin-1 receptor-associated kinase 3 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:28492532 NCBI chr 7:64,922,830...64,982,224
Ensembl chr 7:64,923,615...64,982,281 		JBrowse link
G Kdr kinase insert domain receptor ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:24728327 PMID:28492532 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183 		JBrowse link
G Lrba LPS responsive beige-like anchor protein ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:28492532 NCBI chr 2:185,590,983...186,110,491
Ensembl chr 2:185,524,774...186,110,495 		JBrowse link
G Lztfl1 leucine zipper transcription factor-like 1 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 8:132,774,393...132,790,922
Ensembl chr 8:132,775,587...132,790,839 		JBrowse link
G Nav2 neuron navigator 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 1:104,575,765...104,941,554
Ensembl chr 1:104,576,589...104,941,552 		JBrowse link
G Ncln nicalin ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 7:11,081,544...11,091,583
Ensembl chr 7:11,081,536...11,091,584 		JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:24728327 PMID:28492532 NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215 		JBrowse link
G Nrp2 neuropilin 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 9:69,496,875...69,609,802
Ensembl chr 9:69,497,121...69,612,087 		JBrowse link
G Ntf3 neurotrophin 3 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 4:158,636,883...158,705,886
Ensembl chr 4:158,636,884...158,705,886 		JBrowse link
G Nup98 nucleoporin 98 and 96 precursor ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 1:167,213,866...167,308,851
Ensembl chr 1:167,213,866...167,308,851 		JBrowse link
G Olr1376 olfactory receptor 1376 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr10:12,673,136...12,674,077
Ensembl chr10:12,673,136...12,674,077 		JBrowse link
G Pcdha1 protocadherin alpha 1 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr18:29,951,094...30,215,896 JBrowse link
G Pcdha10 protocadherin alpha 10 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr18:30,010,918...30,215,896
Ensembl chr18:29,987,206...30,215,897 		JBrowse link
G Pcdha11 protocadherin alpha 11 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr18:30,017,918...30,215,896
Ensembl chr18:29,987,206...30,215,897 		JBrowse link
G Pcdha12 protocadherin alpha 12 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr18:30,023,828...30,215,896
Ensembl chr18:29,987,206...30,215,897 		JBrowse link
G Pcdha13 protocadherin alpha 13 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr18:30,036,887...30,215,897
Ensembl chr18:29,987,206...30,215,897 		JBrowse link
G Pcdha2 protocadherin alpha 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr18:29,960,072...30,215,896 JBrowse link
G Pcdha3 protocadherin alpha 3 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr18:29,966,245...30,215,896 JBrowse link
G Pcdha4 protocadherin alpha 4 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr18:29,950,217...30,215,901
Ensembl chr18:29,987,206...30,215,897
Ensembl chr18:29,987,206...30,215,897
Ensembl chr18:29,987,206...30,215,897 		JBrowse link
G Pcdha5 protocadherin alpha 5 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr18:29,980,268...30,215,897 JBrowse link
G Pcdha6 protocadherin alpha 6 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr18:29,987,206...30,215,896
Ensembl chr18:29,987,206...30,215,897 		JBrowse link
G Pcdha7 protocadherin alpha 7 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr18:29,993,361...30,215,896
Ensembl chr18:29,987,206...30,215,897 		JBrowse link
G Pcdha8 protocadherin alpha 8 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr18:29,999,290...30,215,896
Ensembl chr18:29,987,206...30,215,897 		JBrowse link
G Pcdha9 protocadherin alpha 9 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr18:30,004,565...30,215,897
Ensembl chr18:29,987,206...30,215,897 		JBrowse link
G Pcdhac1 protocadherin alpha subfamily C, 1 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr18:30,114,708...30,215,896
Ensembl chr18:29,987,206...30,215,897 		JBrowse link
G Pcdhac2 protocadherin alpha subfamily C, 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr18:30,172,740...30,215,896
Ensembl chr18:29,987,206...30,215,897 		JBrowse link
G Pgrmc2 progesterone receptor membrane component 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 2:127,986,106...128,002,005
Ensembl chr 2:127,986,109...128,002,005 		JBrowse link
G Plau plasminogen activator, urokinase ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:28492532 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819 		JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:24357527 NCBI chr 7:120,380,543...120,392,214
Ensembl chr 7:120,380,544...120,390,954 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:16231297 PMID:23334667 PMID:24728327 PMID:26893459 PMID:28492532 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873 		JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:7581377 PMID:7647787 PMID:7704557 PMID:7881414 PMID:7904208 PMID:8001158 PMID:8084609 PMID:8114938 PMID:8114939 PMID:8114940 PMID:9090527 PMID:9502784 PMID:9506724 PMID:9700200 PMID:9727738 PMID:9760196 PMID:10022819 PMID:10090908 PMID:10521317 PMID:10528857 PMID:10646792 PMID:10790203 PMID:10922382 PMID:10980580 PMID:11230481 PMID:11436122 PMID:11589684 PMID:11732489 PMID:11953745 PMID:11955539 PMID:12000816 PMID:12016484 PMID:12086152 PMID:12205548 PMID:12214285 PMID:12566528 PMID:12628594 PMID:12702567 PMID:12872262 PMID:14566559 PMID:14602786 PMID:14627689 PMID:14633923 PMID:15320968 PMID:15472167 PMID:15531548 PMID:15531714 PMID:15741265 PMID:15753368 PMID:15829955 PMID:15834508 PMID:15870131 PMID:15933516 PMID:16091499 PMID:16118333 PMID:16388093 PMID:16424056 PMID:16441254 PMID:16649977 PMID:16705552 PMID:16928683 PMID:16986122 PMID:17009072 PMID:17021738 PMID:17102091 PMID:17344846 PMID:17483988 PMID:17610518 PMID:18058472 PMID:18062802 PMID:18252215 PMID:18280283 PMID:18284634 PMID:18322301 PMID:18772120 PMID:18805915 PMID:18976163 PMID:19269918 PMID:19572138 PMID:19826964 PMID:19853744 PMID:19906784 PMID:20039896 PMID:20080836 PMID:20473317 PMID:20516206 PMID:20532249 PMID:20598273 PMID:20801952 PMID:20956458 PMID:20981092 PMID:21311890 PMID:21349203 PMID:21479187 PMID:21490379 PMID:21551259 PMID:21655256 PMID:21810974 PMID:21986619 PMID:21995290 PMID:22068382 PMID:22111543 PMID:22174939 PMID:22395866 PMID:22517557 PMID:22584710 PMID:22648184 PMID:22676047 PMID:22703879 PMID:22729463 PMID:22837065 PMID:22995991 PMID:23059849 PMID:23067224 PMID:23084198 PMID:23461807 PMID:23527089 PMID:23723040 PMID:24033266 PMID:24055113 PMID:24336963 PMID:24375508 PMID:24429398 PMID:24651702 PMID:24728327 PMID:24755471 PMID:24897126 PMID:25256751 PMID:25425582 PMID:25637381 PMID:25741868 PMID:25950813 PMID:25985138 PMID:26206375 PMID:26332594 PMID:26395553 PMID:26467025 PMID:26489027 PMID:26580448 PMID:27153395 PMID:27379493 PMID:27600092 PMID:27798940 PMID:27884173 PMID:28492532 PMID:28946813 PMID:29263839 PMID:29642553 PMID:30306255 PMID:30644554 PMID:30927507 PMID:31510104 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372 		JBrowse link
G Sema3d semaphorin 3D ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 4:19,224,378...19,413,519
Ensembl chr 4:19,224,310...19,413,484 		JBrowse link
G Serpinf1 serpin family F member 1 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:28492532 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:24357527 NCBI chr 7:120,393,238...120,403,523
Ensembl chr 7:120,393,254...120,403,523 		JBrowse link
G Tbata thymus, brain and testes associated ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr20:30,786,239...30,804,354
Ensembl chr20:30,791,422...30,804,165 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:25741868 PMID:26017485 PMID:28492532 NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030 		JBrowse link
G Thbs4 thrombospondin 4 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 2:22,343,727...22,385,855
Ensembl chr 2:22,343,727...22,385,855 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:10205261 PMID:15798777 PMID:17304050 PMID:22703879 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584 		JBrowse link
G Zhx2 zinc fingers and homeoboxes 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 7:97,559,653...97,707,872
Ensembl chr 7:97,559,841...97,695,739 		JBrowse link
Hirschsprung Disease Ganglioneuroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phox2b paired-like homeobox 2b ISO ClinVar Annotator: match by null ClinVar PMID:11953745 PMID:12438263 PMID:15024693 PMID:15338462 NCBI chr14:42,711,169...42,718,707
Ensembl chr14:42,714,315...42,717,010 		JBrowse link
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ece1 endothelin converting enzyme 1 ISO ClinVar Annotator: match by OMIM:613870 OMIM
ClinVar		 PMID:8530372 PMID:9915973 NCBI chr 5:156,215,469...156,318,652
Ensembl chr 5:156,215,417...156,318,671 		JBrowse link
Mowat-Wilson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap15 Rho GTPase activating protein 15 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:28,626,987...29,236,225
Ensembl chr 3:28,627,084...29,236,219 		JBrowse link
G Gtdc1 glycosyltransferase-like domain containing 1 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar PMID:12920073 NCBI chr 3:29,410,426...29,705,981
Ensembl chr 3:29,410,426...29,705,985 		JBrowse link
G Hnmt histamine N-methyltransferase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:905,111...937,038
Ensembl chr 3:904,765...937,102 		JBrowse link
G Kynu kynureninase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:28,416,926...28,566,939
Ensembl chr 3:28,416,954...28,566,928 		JBrowse link
G Lrp1b LDL receptor related protein 1B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:25,201,194...27,348,126 JBrowse link
G Nxph2 neurexophilin 2 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:67,027...309,536
Ensembl chr 3:307,204...307,980 		JBrowse link
G Spopl speckle type BTB/POZ protein like ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:397,834...471,651
Ensembl chr 3:401,429...471,634 		JBrowse link
G Thsd7b thrombospondin type 1 domain containing 7B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr13:46,026,943...46,931,619
Ensembl chr13:46,169,963...46,930,858 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:235730		 OMIM
ClinVar
CTD		 PMID:2030158 PMID:9719364 PMID:11279515 PMID:11448942 PMID:11592033 PMID:11595972 PMID:11891681 PMID:12784289 PMID:12920073 PMID:15006694 PMID:15121779 PMID:15908750 PMID:16053902 PMID:16088920 PMID:16532472 PMID:16688751 PMID:17103451 PMID:17203459 PMID:17478475 PMID:17932455 PMID:17958891 PMID:18182442 PMID:18414213 PMID:19006215 PMID:19215041 PMID:19842203 PMID:20428734 PMID:23243526 PMID:23418865 PMID:23466526 PMID:23523603 PMID:24401652 PMID:24715670 PMID:25326635 PMID:25326637 PMID:25608121 PMID:25741868 PMID:25931334 PMID:26467025 PMID:26633542 PMID:26809768 PMID:26993267 PMID:27831545 PMID:28492532 PMID:28501473 PMID:28708303 PMID:29089047 PMID:32860008 NCBI chr 3:29,857,289...29,985,932
Ensembl chr 3:29,862,473...29,996,865 		JBrowse link
G Zeb2-as1 ZEB2 antisense RNA 1 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar PMID:12920073 NCBI chr 3:29,994,753...29,997,626 JBrowse link
PCWH syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpz myelin protein zero ISS OMIM:609136 MouseDO NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068 		JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
ClinVar Annotator: match by term: PCWH Syndrome		 ClinVar PMID:1636383 PMID:9462749 PMID:10482261 PMID:10762540 PMID:11026454 PMID:12447940 PMID:15004559 PMID:17855451 PMID:17999358 PMID:19764030 PMID:20127975 PMID:22008330 PMID:24033266 PMID:25741868 PMID:25991456 PMID:26467025 PMID:27240497 PMID:28492532 NCBI chr 7:120,380,543...120,392,214
Ensembl chr 7:120,380,544...120,390,954 		JBrowse link
G Sox10 SRY-box transcription factor 10 severity ISO ClinVar Annotator: match by term: Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
ClinVar Annotator: match by term: PCWH Syndrome
ClinVar Annotator: match by OMIM:609136		 OMIM
ClinVar		 PMID:1636383 PMID:9462749 PMID:10482261 PMID:10762540 PMID:11026454 PMID:12447940 PMID:15004559 PMID:17855451 PMID:17999358 PMID:19764030 PMID:20127975 PMID:22008330 PMID:24033266 PMID:25741868 PMID:25991456 PMID:26467025 PMID:27240497 PMID:28492532, PMID:25959061 RGD:12802339 NCBI chr 7:120,393,238...120,403,523
Ensembl chr 7:120,393,254...120,403,523 		JBrowse link
Total Intestinal Aganglionosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednrb endothelin receptor type B IAGP
ISO		 ClinVar Annotator: match by term: Near-total intestinal aganglionosis
ClinVar Annotator: match by term: Total intestinal aganglionosis		 ClinVar PMID:16944573 PMID:18162831 PMID:25741868, PMID:21915282, PMID:22132166 RGD:6480217, RGD:6480215 NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354 		JBrowse link
G Ednrbsl endothelin receptor type B, spotting lethal IAGP RGD PMID:21915282, PMID:22132166 RGD:6480217, RGD:6480215
Waardenburg Syndrome Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edn3 endothelin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8630502 PMID:8630503 PMID:17516928 NCBI chr 3:172,856,730...172,879,276
Ensembl chr 3:172,856,733...172,880,450 		JBrowse link
G Ednrb endothelin receptor type B IAGP
ISO		 ClinVar Annotator: match by term: Hirschsprung disease with pigmentary anomaly ClinVar PMID:8001158 PMID:8852659 PMID:8852660 PMID:10090908 PMID:10458491 PMID:10664228 PMID:10874640 PMID:14633923 PMID:16145050 PMID:16954478 PMID:17011274 PMID:18162831 PMID:19320733 PMID:20009762 PMID:21507037 PMID:22993632 PMID:22995991 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27535533 PMID:28492532 PMID:29407415, PMID:21915282 RGD:6480217 NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354 		JBrowse link
G Ednrbsl endothelin receptor type B, spotting lethal IAGP RGD PMID:21915282 RGD:6480217
G Sox10 SRY-box transcription factor 10 ISO DNA:missense mutations,insertion,deletion:cds: RGD PMID:9462749 RGD:12832744 NCBI chr 7:120,393,238...120,403,523
Ensembl chr 7:120,393,254...120,403,523 		JBrowse link
Waardenburg syndrome type 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4A
ClinVar Annotator: match by OMIM:277580		 OMIM
ClinVar		 PMID:7778600 PMID:8001158 PMID:8634719 PMID:8852659 PMID:8852660 PMID:10090908 PMID:10458491 PMID:10528251 PMID:10664228 PMID:10874640 PMID:11891690 PMID:14633923 PMID:16145050 PMID:16954478 PMID:17011274 PMID:18162831 PMID:19320733 PMID:20009762 PMID:21507037 PMID:22993632 PMID:22995991 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27535533 PMID:28492532 PMID:29407415 NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354 		JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4A ClinVar PMID:25741868 NCBI chr 7:120,380,543...120,392,214
Ensembl chr 7:120,380,544...120,390,954 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4A ClinVar PMID:25741868 NCBI chr 7:120,393,238...120,403,523
Ensembl chr 7:120,393,254...120,403,523 		JBrowse link
Waardenburg syndrome type 4B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edn3 endothelin 3 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4B
ClinVar Annotator: match by OMIM:613265		 OMIM
ClinVar		 PMID:8630503 PMID:8696331 PMID:9359047 PMID:9587491 PMID:11303518 PMID:19556619 PMID:19764030 PMID:20583152 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:172,856,730...172,879,276
Ensembl chr 3:172,856,733...172,880,450 		JBrowse link
Waardenburg syndrome type 4C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Waardenburg syndrome, type 4c
ClinVar Annotator: match by term: Waardenburg syndrome type 4C		 ClinVar PMID:9462749 PMID:10077527 PMID:18348274 PMID:24033266 PMID:25741868 PMID:25991456 NCBI chr 7:120,380,543...120,392,214
Ensembl chr 7:120,380,544...120,390,954 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4C
ClinVar Annotator: match by OMIM:613266		 OMIM
ClinVar		 PMID:9462749 PMID:10077527 PMID:18348274 PMID:24033266 PMID:25741868 PMID:25991456 NCBI chr 7:120,393,238...120,403,523
Ensembl chr 7:120,393,254...120,403,523 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      gastrointestinal system disease 4690
        Digestive System Abnormalities 469
          Hirschsprung's disease 224
            Al Gazali Hirschsprung Syndrome 0
            Bresheck/Bresek Syndrome 0
            Cartilage Hair Hypoplasia Like Syndrome 0
            Goldberg-Shprintzen syndrome 54
            Hirschsprung Disease 1 53
            Hirschsprung Disease Ganglioneuroblastoma 1
            Hirschsprung Disease Polydactyly Heart Disease 0
            Hirschsprung Disease Type 3 0
            Hirschsprung Disease Type d Brachydactyly 0
            Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 0
            Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 0
            Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect 0
            Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 1
            Laurence Prosser Rocker Syndrome 0
            Mowat-Wilson syndrome 10
            PCWH syndrome 3
            Santos Mateus Leal Syndrome 0
            Total Intestinal Aganglionosis 6
            Waardenburg Syndrome Type 4 + 7
            cartilage-hair hypoplasia 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      gastrointestinal system disease 4690
        Gastrointestinal Diseases 2622
          intestinal disease 1576
            colonic disease 1068
              megacolon 224
                Hirschsprung's disease 224
                  Al Gazali Hirschsprung Syndrome 0
                  Bresheck/Bresek Syndrome 0
                  Cartilage Hair Hypoplasia Like Syndrome 0
                  Goldberg-Shprintzen syndrome 54
                  Hirschsprung Disease 1 53
                  Hirschsprung Disease Ganglioneuroblastoma 1
                  Hirschsprung Disease Polydactyly Heart Disease 0
                  Hirschsprung Disease Type 3 0
                  Hirschsprung Disease Type d Brachydactyly 0
                  Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 0
                  Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 0
                  Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect 0
                  Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 1
                  Laurence Prosser Rocker Syndrome 0
                  Mowat-Wilson syndrome 10
                  PCWH syndrome 3
                  Santos Mateus Leal Syndrome 0
                  Total Intestinal Aganglionosis 6
                  Waardenburg Syndrome Type 4 + 7
                  cartilage-hair hypoplasia 1
paths to the root