Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:megacolon
go back to main search page
Accession:DOID:11372 term browser browse the term
Definition:Dilatation of the COLON, often to alarming dimensions. There are various types of megacolon including congenital megacolon in HIRSCHSPRUNG DISEASE, idiopathic megacolon in CONSTIPATION, and TOXIC MEGACOLON.
Synonyms:exact_synonym: Megacolons;   dilatation of colon
 primary_id: MESH:D008531
 alt_id: RDO:0005809
 xref: ICD10CM:K59.3;   ICD10CM:K59.39;   NCI:C34810
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
megacolon term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:12787275, PMID:22266148, PMID:25741868, PMID:28492532, PMID:28830826, PMID:30311386, PMID:32860008 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
JBrowse link
G Ednrb endothelin receptor type B IAGP RGD PMID:8570650 RGD:628515 NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:25741868 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link
G Slc8a1 solute carrier family 8 member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15185227, PMID:17560225 NCBI chr 6:4,244,076...4,564,262
Ensembl chr 6:4,258,991...4,520,604
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: Shprintzen-Goldberg syndrome
ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon 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:15884042, PMID:19112531, PMID:23023332, PMID:23103230, PMID:24033266, PMID:24357594, PMID:24736733, PMID:25326635, PMID:25741868, PMID:27146836, PMID:28492532, PMID:30311386 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:24651702, PMID:24728327, PMID:24897126, 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:27798940, PMID:27884173, PMID:28492532, PMID:28946813, PMID:30306255, PMID:30644554, 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
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 chr12:22,472,358...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 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 Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Congenital megacolon ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Congenital megacolon ClinVar PMID:12787275, PMID:22266148, PMID:25741868, PMID:28492532, PMID:28830826, PMID:30311386, PMID:32860008 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
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 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 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
IMP
IAGP
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:9739043, PMID:8589685 RGD:1601008, 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 RGD:6480217
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 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 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 Fmn2 formin 2 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr13:92,569,256...92,887,302 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 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 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 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 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 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 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 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 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 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 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: Aganglionic megacolon
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:30031151, PMID:30122538, PMID:30311386, 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 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 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 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 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 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 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 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
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 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:19764019, PMID:19842203, PMID:20428734, PMID:21343952, PMID:23243526, PMID:23466526, PMID:23523603, PMID:24401652, PMID:24715670, PMID:25326635, PMID:25326637, PMID:25741868, PMID:25931334, PMID:26467025, PMID:26633542, PMID:26721324, PMID:26809768, PMID:26993267, PMID:27831545, PMID:28492532, PMID:28501473, PMID:28708303, PMID:29089047, PMID:30311386, 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 RGD:6480217 NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Aganglionosis, total intestinal ClinVar PMID:7824936, PMID:7849720, PMID:7881414, PMID:7915165, PMID:8099202, PMID:8103403, PMID:8114940, PMID:8675603, PMID:8807338, PMID:9174404, PMID:9230192, PMID:9259198, PMID:9384613, PMID:9498388, PMID:9839497, PMID:9879991, PMID:10490816, PMID:11935126, PMID:14561794, PMID:17895320, PMID:18063059, PMID:20516206, PMID:20979234, PMID:21254918, PMID:21422799, PMID:21765987, PMID:24152999, PMID:25374962, PMID:25628771, PMID:25694125, PMID:28492532, PMID:29097883, PMID:30311386 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link
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 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 16023
    disease of anatomical entity 15278
      gastrointestinal system disease 4632
        intestinal disease 1514
          colonic disease 1022
            megacolon 183
              Hirschsprung's disease + 182
              toxic megacolon 0
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      gastrointestinal system disease 4632
        Gastrointestinal Diseases 2552
          intestinal disease 1514
            colonic disease 1022
              megacolon 183
                Hirschsprung's disease + 182
                toxic megacolon 0
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.