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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:A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel. (DO)
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
 xref: EFO:0004241;   GARD:6660;   ICD10CM:Q43.1;   MONDO:0018309;   NCI:C34700;   OMIM:PS142623;   ORDO:388
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Hirschsprung's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ache acetylcholinesterase ISO RGD PMID:21991983 RGD:5509847 NCBI chr12:19,406,133...19,413,713
Ensembl chr12:19,407,360...19,413,651 		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 4:173,527,881...173,566,033
Ensembl chr 4:173,528,344...173,593,100 		JBrowse link
G Ahnak AHNAK nucleoprotein ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:28492532 NCBI chr 1:205,882,225...205,970,934
Ensembl chr 1:205,882,273...205,970,926 		JBrowse link
G Axin2 axin 2 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:21626677 PMID:25260786 PMID:25637381 PMID:25741868 PMID:27696107 More... NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231 		JBrowse link
G Bmi1 BMI1 proto-oncogene, polycomb ring finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:29429387 NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690 		JBrowse link
G Cavin2 caveolae associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25792468 NCBI chr 9:50,302,079...50,314,096
Ensembl chr 9:50,301,206...50,314,147 		JBrowse link
G Ccr9 C-C motif chemokine receptor 9 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 8:123,396,157...123,410,199
Ensembl chr 8:123,395,813...123,413,969 		JBrowse link
G Cd14 CD14 molecule IEP protein:increased expression:intestine: RGD PMID:15117676 RGD:7193054 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261 		JBrowse link
G Cluh clustered mitochondria homolog ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr10:59,509,580...59,531,345
Ensembl chr10:59,509,726...59,531,345 		JBrowse link
G Cntn5 contactin 5 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 8:6,735,715...7,967,727
Ensembl chr 8:6,738,239...7,967,957 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Dennd3 DENN domain containing 3 ISO ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 7:105,415,870...105,473,583
Ensembl chr 7:105,415,677...105,473,592 		JBrowse link
G Depdc1 DEP domain containing 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 2:248,684,508...248,717,951
Ensembl chr 2:248,684,523...248,717,951 		JBrowse link
G Dppa5 developmental pluripotency associated 5 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 8:79,215,341...79,217,282
Ensembl chr 8:79,215,362...79,216,570
Ensembl chr 7:79,215,362...79,216,570 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More... NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982 		JBrowse link
G Dscam DS cell adhesion molecule ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr11:35,921,924...36,507,100
Ensembl chr11:35,926,896...36,507,415 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183 		JBrowse link
G Ece1 endothelin converting enzyme 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aganglionic megacolon		 CTD
ClinVar		 PMID:9915973 NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371 		JBrowse link
G Edn3 endothelin 3 susceptibility ISO
ISS		 DNA:point mutation:exon:A17T, A224T
OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644
ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD
RGD		 PMID:8630502 PMID:8630503 PMID:8696331 PMID:8896568 PMID:9359047 More... RGD:1601003 NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093 		JBrowse link
G Ednrb endothelin receptor type B treatment ISO
ISS
IAGP
IMP		 DNA:point mutation:exon:W276C
OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Recessive | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD
RGD		 PMID:8001158 PMID:8852658 PMID:8852659 PMID:8852660 PMID:8896568 More... RGD:1601008, RGD:6480215, RGD:6480217, RGD:628516, RGD:1342447 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115 		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
RGD		 PMID:12526770 RGD:734940 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078 		JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317 		JBrowse link
G Fat3 FAT atypical cadherin 3 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 8:12,691,470...13,274,336
Ensembl chr 8:12,694,019...13,273,135 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 PMID:26559152 PMID:28492532 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Fmn2 formin 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr13:86,454,256...86,771,437
Ensembl chr13:86,453,926...86,771,411 		JBrowse link
G Gdnf glial cell derived neurotrophic factor susceptibility ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644
ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3		 CTD
MouseDO
ClinVar
OMIM		 PMID:8896568 PMID:8896569 PMID:8968758 PMID:9215674 PMID:9359036 More... NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209 		JBrowse link
G Gfra1 GDNF family receptor alpha 1 ISO
ISS		 ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712		 ClinVar
MouseDO
RGD		 PMID:17507417 RGD:6218967 NCBI chr 1:257,315,682...257,552,004
Ensembl chr 1:257,321,742...257,551,473 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:9302279 PMID:25741868 PMID:28492532 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712 		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 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		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 chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Hdac8 histone deacetylase 8 ISO protein:decreased expression:colon (human) RGD PMID:16771768 RGD:13208819 NCBI chr  X:67,385,288...67,593,014
Ensembl chr  X:67,385,289...67,592,923 		JBrowse link
G Ihh Indian hedgehog signaling molecule ISS
ISO		 OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1		 MouseDO
ClinVar		 NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532 		JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250 		JBrowse link
G Iqcf5 IQ motif containing F5 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 8:107,151,477...107,152,862
Ensembl chr 8:107,151,462...107,152,869 		JBrowse link
G Irak3 interleukin-1 receptor-associated kinase 3 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:28492532 NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121 		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 chr19:56,705,123...56,753,199
Ensembl chr19:56,705,171...56,753,195 		JBrowse link
G Kdr kinase insert domain receptor ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:24728327 PMID:28492532 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		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 chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar
RGD		 PMID:28492532 PMID:21395909 RGD:6483043 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Lrba LPS responsive beige-like anchor protein ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:171,623,668...172,202,576
Ensembl chr 2:171,621,507...172,202,724 		JBrowse link
G Lztfl1 leucine zipper transcription factor-like 1 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 8:123,344,085...123,360,245
Ensembl chr 8:123,344,925...123,360,192 		JBrowse link
G Man2a2 mannosidase, alpha, class 2A, member 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 1:134,304,714...134,327,611
Ensembl chr 1:134,306,236...134,327,315 		JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr11:83,280,722...83,356,006
Ensembl chr11:83,280,762...83,355,362 		JBrowse link
G Mgam2 maltase-glucoamylase 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 4:69,624,024...69,715,782
Ensembl chr 4:69,637,799...69,683,742 		JBrowse link
G Mir128-1 microRNA 128-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29429387 NCBI chr13:39,699,449...39,699,530
Ensembl chr13:39,699,449...39,699,530 		JBrowse link
G Mir195 microRNA 195 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25007945 NCBI chr10:54,951,838...54,951,924
Ensembl chr10:54,951,838...54,951,924 		JBrowse link
G Mir206 microRNA 206 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25792468 NCBI chr 9:23,094,249...23,094,332
Ensembl chr 9:23,094,249...23,094,332 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:25741868 NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Nav2 neuron navigator 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 1:98,957,629...99,322,339
Ensembl chr 1:98,663,759...99,322,337 		JBrowse link
G Ncln nicalin ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 7:8,211,978...8,221,938
Ensembl chr 7:8,211,996...8,221,934 		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 chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518 		JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088 		JBrowse link
G Notch4 notch receptor 4 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465 		JBrowse link
G Nrg1 neuregulin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22974608 NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884 		JBrowse link
G Nrg3 neuregulin 3 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:28492532 NCBI chr16:14,229,270...15,352,505
Ensembl chr16:14,235,157...15,352,368 		JBrowse link
G Nrp2 neuropilin 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr 9:64,122,815...64,238,007
Ensembl chr 9:64,123,132...64,237,958 		JBrowse link
G Nrtn neurturin ISO RGD PMID:9700200 RGD:1600267 NCBI chr 9:1,581,860...1,587,835
Ensembl chr 9:1,581,975...1,583,102 		JBrowse link
G Ntf3 neurotrophin 3 ISO ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO protein:altered expression:intestine RGD PMID:8943115 RGD:5684546 NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770 		JBrowse link
G Nup98 nucleoporin 98 and 96 precursor ISO ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 1:156,494,423...156,591,415
Ensembl chr 1:156,494,423...156,591,415 		JBrowse link
G Oas3 2'-5'-oligoadenylate synthetase 3 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr12:35,779,028...35,802,781
Ensembl chr12:35,779,022...35,802,781 		JBrowse link
G Or1f34 olfactory receptor family 1 subfamily F member 34 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr10:12,333,860...12,334,801
Ensembl chr10:12,333,860...12,334,801 		JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:28492532 NCBI chr 1:202,437,503...202,569,473
Ensembl chr 1:202,437,505...202,569,473 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719 		JBrowse link
G Pcdha1 protocadherin alpha 1 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha10 protocadherin alpha 10 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha11 protocadherin alpha 11 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha12 protocadherin alpha 12 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha13 protocadherin alpha 13 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha2 protocadherin alpha 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha3 protocadherin alpha 3 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha4 protocadherin alpha 4 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr18:28,581,040...28,846,214
Ensembl chr18:28,581,225...28,846,211 		JBrowse link
G Pcdha5 protocadherin alpha 5 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha6 protocadherin alpha 6 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha7 protocadherin alpha 7 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha8 protocadherin alpha 8 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha9 protocadherin alpha 9 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdhac1 protocadherin alpha subfamily C, 1 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr18:28,740,353...28,750,216
Ensembl chr18:28,581,225...28,846,211 		JBrowse link
G Pcdhac2 protocadherin alpha subfamily C, 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pgrmc2 progesterone receptor membrane component 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 2:124,068,257...124,084,155
Ensembl chr 2:124,068,260...124,084,155 		JBrowse link
G Phax phosphorylated adaptor for RNA export ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr18:50,053,133...50,069,823
Ensembl chr18:50,053,023...50,069,823 		JBrowse link
G Phox2b paired-like homeobox 2b ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978 		JBrowse link
G Phrf1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 1:196,333,663...196,366,901
Ensembl chr 1:196,333,903...196,366,892 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:25741868 NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146 		JBrowse link
G Plau plasminogen activator, urokinase ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:28492532 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:24357527 PMID:25741868 NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245 		JBrowse link
G Prokr1 prokineticin receptor 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 4:120,022,301...120,033,367
Ensembl chr 4:120,021,747...120,033,379 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:16231297 PMID:23334667 PMID:24728327 PMID:26467025 PMID:26559152 More... NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Ret ret proto-oncogene susceptibility ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4
OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4
DNA:SNPs:exon, intron:multiple		 CTD
OMIM
ClinVar
MouseDO
RGD		 PMID:2639553 PMID:2660074 PMID:2904651 PMID:3078962 PMID:7536460 More... RGD:12910713 NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
G Sema3d semaphorin 3D ISO ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:22,316,769...22,505,930
Ensembl chr 4:22,316,779...22,505,930 		JBrowse link
G Serpinf1 serpin family F member 1 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:20972907 RGD:12801434 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
G Slc22a1 solute carrier family 22 member 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 1:48,076,657...48,103,679
Ensembl chr 1:48,076,666...48,103,678 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:10975929 RGD:12879497 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
G Snf8 SNF8 subunit of ESCRT-II ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr10:80,984,337...80,996,724
Ensembl chr10:80,984,363...80,996,734 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO DNA:frameshift:cds:
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1		 ClinVar
RGD		 PMID:24357527 PMID:25741868 PMID:9560246 RGD:12802335 NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544 		JBrowse link
G Stx1a syntaxin 1A ISO RGD PMID:11345516 RGD:1581432 NCBI chr12:21,641,971...21,670,022
Ensembl chr12:21,641,969...21,669,930 		JBrowse link
G Tbata thymus, brain and testes associated ISO ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr20:29,118,055...29,135,124
Ensembl chr20:29,118,070...29,135,109 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 PMID:26017485 PMID:28492532 NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405 		JBrowse link
G Thbs4 thrombospondin 4 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 2:23,983,158...24,025,289
Ensembl chr 2:23,983,158...24,026,313 		JBrowse link
G Tmem165 transmembrane protein 165 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr14:31,993,489...32,018,717
Ensembl chr14:31,993,493...32,018,717 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:10205261 PMID:15798777 PMID:17304050 PMID:22703879 PMID:24728327 More... NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
G Utp25 UTP25 small subunit processome component ISO CTD Direct Evidence: marker/mechanism CTD PMID:25007945 NCBI chr13:104,630,390...104,651,681
Ensembl chr13:104,630,391...104,651,662 		JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606 		JBrowse link
G Wnt8b Wnt family member 8B ISO RGD PMID:20972907 RGD:12801434 NCBI chr 1:243,354,145...243,376,000
Ensembl chr 1:243,354,086...243,374,286 		JBrowse link
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr10:60,584,665...60,622,352
Ensembl chr10:60,584,652...60,671,589 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO Mowat-Wilson syndrome, OMIM:235730
ClinVar Annotator: match by term: Aganglionic megacolon		 ClinVar
RGD		 PMID:11279515 RGD:1599885 NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157 		JBrowse link
G Zfp592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 1:134,951,286...135,002,443
Ensembl chr 1:134,967,783...135,002,443 		JBrowse link
G Zhx2 zinc fingers and homeoboxes 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 7:89,226,358...89,374,266
Ensembl chr 7:89,226,463...89,374,378 		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: Cartilage-hair hypoplasia ClinVar PMID:8034306 PMID:9156319 PMID:10026268 PMID:11207361 PMID:11940090 More... NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918 		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 5:166,501,150...166,515,477
Ensembl chr 5:166,500,781...166,515,481 		JBrowse link
G Actrt2 actin-related protein T2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629 		JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003 		JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,398,359...166,400,616
Ensembl chr 5:166,397,748...166,400,953 		JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482 		JBrowse link
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338 		JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,551,628...166,556,003
Ensembl chr 5:166,551,628...166,556,003 		JBrowse link
G C5h1orf159 similar to human chromosome 1 open reading frame 159 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,701,485...166,719,939
Ensembl chr 5:166,701,676...166,719,955 		JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,416,940...166,428,997
Ensembl chr 5:166,417,508...166,436,882 		JBrowse link
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876 		JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071 		JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,474,947...166,479,103
Ensembl chr 5:166,474,966...166,479,017 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664 		JBrowse link
G Faap20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,808,370...165,815,291
Ensembl chr 5:165,808,657...165,815,333 		JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,299,587...166,311,477
Ensembl chr 5:166,300,122...166,310,326 		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 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124 		JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,522,138...165,523,684
Ensembl chr 5:165,522,234...165,523,001 		JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651 		JBrowse link
G Kifbp kinesin family binding protein ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:609460
ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome | ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome		 CTD
MouseDO
ClinVar
OMIM		 PMID:15883926 PMID:18414213 PMID:23427148 PMID:24072599 PMID:24901346 More... NCBI chr20:30,512,899...30,532,504
Ensembl chr20:30,512,901...30,532,476 		JBrowse link
G Mib2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,243,776...166,259,944
Ensembl chr 5:166,243,776...166,259,650 		JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,648,494...166,648,582 JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366 		JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543 		JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716 		JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,239,643...166,242,734
Ensembl chr 5:166,239,644...166,242,433 		JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,646,817...165,704,892
Ensembl chr 5:165,646,991...165,704,892 		JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,408,962...166,413,492
Ensembl chr 5:166,408,962...166,413,492 		JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,448,919...166,453,645
Ensembl chr 5:166,449,154...166,453,636 		JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,145,708...166,176,328
Ensembl chr 5:166,145,481...166,176,322 		JBrowse link
G Nek9 NIMA-related kinase 9 ISO ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome ClinVar PMID:25741868 NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538 		JBrowse link
G Pank4 pantothenate kinase 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965 		JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356 		JBrowse link
G Prkcz protein kinase C, zeta ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367 		JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,462,610...165,465,213 JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,497,643...166,500,647
Ensembl chr 5:166,496,755...166,500,611 		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 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750 		JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,723,346...166,726,236
Ensembl chr 5:166,724,984...166,725,751 		JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521 		JBrowse link
G Ski Ski proto-oncogene ISO ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome		 ClinVar PMID:7977351 PMID:8449506 PMID:8981946 PMID:9536098 PMID:15979919 More... NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733 		JBrowse link
G Slc35e2b solute carrier family 35, member E2B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021 		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 5:166,312,267...166,343,432
Ensembl chr 5:166,313,650...166,343,429 		JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,468,703...166,472,759
Ensembl chr 5:166,469,589...166,472,742 		JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,344,000...166,350,210
Ensembl chr 5:166,344,386...166,350,636 		JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,048,669...166,050,423
Ensembl chr 5:166,046,565...166,050,433 		JBrowse link
G Tmem88b transmembrane protein 88B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,391,080...166,393,904
Ensembl chr 5:166,391,080...166,393,904 		JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703 		JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353 		JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599 		JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,411,063...165,428,864
Ensembl chr 5:165,411,058...165,428,857 		JBrowse link
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,630,147...166,644,114
Ensembl chr 5:166,630,152...166,653,707 		JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,533,374...166,547,811
Ensembl chr 5:166,533,418...166,547,804 		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 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637 		JBrowse link
Hirschsprung Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888 		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 More... NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:25741868 PMID:26559152 PMID:28492532 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Lrba LPS responsive beige-like anchor protein ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:171,623,668...172,202,576
Ensembl chr 2:171,621,507...172,202,724 		JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088 		JBrowse link
G Nrp2 neuropilin 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:25741868 NCBI chr 9:64,122,815...64,238,007
Ensembl chr 9:64,123,132...64,237,958 		JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:24357527 PMID:25741868 NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234 		JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7633441 PMID:7704557 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:24357527 PMID:25741868 NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544 		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 chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405 		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 More... NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951 		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 term: Hirschsprung disease ganglioneuroblastoma ClinVar PMID:11953745 PMID:12438263 PMID:15024693 PMID:15338462 PMID:17637745 More... NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978 		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 term: Hirschsprung disease, cardiac defects, and autonomic dysfunction
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:8530372 PMID:9915973 PMID:25741868 PMID:34298581 NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371 		JBrowse link
Mowat-Wilson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp activity-dependent neuroprotector homeobox ISO ClinVar Annotator: match by term: Hirschsprung disease mental retardation syndrome ClinVar PMID:25741868 NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312 		JBrowse link
G Arhgap15 Rho GTPase activating protein 15 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:27,989,368...28,592,722
Ensembl chr 3:27,989,633...28,600,265 		JBrowse link
G Gtdc1 glycosyltransferase-like domain containing 1 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar PMID:12920073 NCBI chr 3:28,766,640...29,161,668
Ensembl chr 3:28,766,645...29,162,271 		JBrowse link
G Hnmt histamine N-methyltransferase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012 		JBrowse link
G Kynu kynureninase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:27,778,646...27,929,470
Ensembl chr 3:27,778,772...27,929,488 		JBrowse link
G Lrp1b LDL receptor related protein 1B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:24,594,302...26,715,037
Ensembl chr 3:24,594,991...26,715,505 		JBrowse link
G Nxph2 neurexophilin 2 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:5,986,175...5,988,525
Ensembl chr 3:5,756,621...5,987,008 		JBrowse link
G Spopl speckle type BTB/POZ protein like ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:6,074,681...6,148,508
Ensembl chr 3:6,078,310...6,108,794 		JBrowse link
G Thsd7b thrombospondin type 1 domain containing 7B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr13:40,768,567...41,667,262
Ensembl chr13:40,768,570...41,666,501 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO
ISS		 ClinVar Annotator: match by term: Mowat-Wilson syndrome | ClinVar Annotator: match by term: ZEB2-related condition
OMIM:235730
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2030158 PMID:9536098 PMID:9719364 PMID:11279515 PMID:11448942 More... NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157 		JBrowse link
G Zeb2-as1 ZEB2 antisense RNA 1 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar PMID:12920073 NCBI chr 3:29,343,078...29,345,943 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 chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679 		JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: PCWH syndrome | ClinVar Annotator: match by term: Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease ClinVar PMID:1636383 PMID:9462749 PMID:10482261 PMID:10762540 PMID:11026454 More... NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234 		JBrowse link
G Sox10 SRY-box transcription factor 10 severity ISO
ISS		 ClinVar Annotator: match by term: PCWH syndrome | ClinVar Annotator: match by term: Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
OMIM:609136
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1636383 PMID:9462749 PMID:10482261 PMID:10762540 PMID:11026454 More... RGD:12802339 NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544 		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: Aganglionosis, total intestinal ClinVar
RGD		 PMID:16944573 PMID:18162831 PMID:25741868 PMID:30303587 PMID:32747562 More... RGD:6480217, RGD:6480215 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115 		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 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093 		JBrowse link
G Ednrb endothelin receptor type B IAGP
ISO		 ClinVar Annotator: match by term: Hirschsprung disease with pigmentary anomaly ClinVar
RGD		 PMID:16944573 PMID:18162831 PMID:25741868 PMID:30303587 PMID:30311386 More... RGD:6480217 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115 		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 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544 		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
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Waardenburg syndrome type 4A
OMIM:277580		 CTD
OMIM
ClinVar
MouseDO		 PMID:7778600 PMID:8001158 PMID:8001159 PMID:8634719 PMID:8852659 More... NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115 		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 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4A ClinVar PMID:25741868 NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544 		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 susceptibility ISO
ISS		 ClinVar Annotator: match by term: Waardenburg syndrome type 4B
OMIM:613265
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
MouseDO
CTD		 PMID:8630503 PMID:8696331 PMID:9359047 PMID:9587491 PMID:11303518 More... NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093 		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 PMID:9462749 PMID:10077527 PMID:15004559 PMID:18348274 PMID:21898658 More... NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO
ISS		 ClinVar Annotator: match by term: Waardenburg syndrome type 4C
OMIM:613266
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9462749 PMID:10077527 PMID:15004559 PMID:18348274 PMID:21898658 More... NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      gastrointestinal system disease 7050
        Digestive System Abnormalities 510
          Hirschsprung's disease 183
            Al Gazali Hirschsprung Syndrome 0
            Bresheck/Bresek Syndrome 0
            Cartilage Hair Hypoplasia Like Syndrome 0
            Goldberg-Shprintzen syndrome 54
            Hirschsprung Disease 1 11
            Hirschsprung Disease Ganglioneuroblastoma 1
            Hirschsprung Disease Polydactyly Heart Disease 0
            Hirschsprung Disease Type 3 0
            Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 0
            Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 0
            Hirschsprung Disease with Type D Brachydactyly 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 11
            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 21128
    disease of anatomical entity 18211
      gastrointestinal system disease 7050
        intestinal disease 3073
          colonic disease 2305
            megacolon 398
              Hirschsprung's disease 183
                Al Gazali Hirschsprung Syndrome 0
                Bresheck/Bresek Syndrome 0
                Cartilage Hair Hypoplasia Like Syndrome 0
                Goldberg-Shprintzen syndrome 54
                Hirschsprung Disease 1 11
                Hirschsprung Disease Ganglioneuroblastoma 1
                Hirschsprung Disease Polydactyly Heart Disease 0
                Hirschsprung Disease Type 3 0
                Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 0
                Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 0
                Hirschsprung Disease with Type D Brachydactyly 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 11
                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