Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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:A colonic disease that is characterized by an abnormal dilation of the colon. (DO)
Synonyms:exact_synonym: dilatation of colon;   megacolons
 primary_id: MESH:D008531
 xref: ICD10CM:K59.39;   NCI:C34810
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

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 Abcf1 ATP binding cassette subfamily F member 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:25,097,202...25,110,164
Ensembl chrNW_004624754:25,098,182...25,110,092 		JBrowse link
G Abhd16a abhydrolase domain containing 16A, phospholipase ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:24,505,572...24,520,092
Ensembl chrNW_004624754:24,505,606...24,520,092 		JBrowse link
G Ahnak AHNAK nucleoprotein ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624926:1,071,969...1,101,587 JBrowse link
G Aif1 allograft inflammatory factor 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:24,590,071...24,591,913
Ensembl chrNW_004624754:24,590,071...24,591,904 		JBrowse link
G Aifm3 AIF family member 3 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624945:710,562...724,699
Ensembl chrNW_004624945:710,820...722,621 		JBrowse link
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624771:15,639,018...15,896,590
Ensembl chrNW_004624771:15,648,638...15,896,590 		JBrowse link
G Ap5z1 adaptor related protein complex 5 subunit zeta 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624740:28,509,979...28,527,813
Ensembl chrNW_004624740:28,509,230...28,527,519 		JBrowse link
G Apom apolipoprotein M ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:24,554,705...24,558,093
Ensembl chrNW_004624754:24,554,705...24,557,098 		JBrowse link
G Appbp2 amyloid beta precursor protein binding protein 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624871:3,157,148...3,217,955
Ensembl chrNW_004624871:3,156,388...3,216,748 		JBrowse link
G Arhgap22 Rho GTPase activating protein 22 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624928:1,265,592...1,433,947 JBrowse link
G Arvcf ARVCF delta catenin family member ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624747:590,293...643,797
Ensembl chrNW_004624747:591,891...610,988 		JBrowse link
G Asah2 N-acylsphingosine amidohydrolase 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624791:12,906,908...13,059,033
Ensembl chrNW_004624791:12,907,485...13,059,005 		JBrowse link
G Atat1 alpha tubulin acetyltransferase 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:25,058,312...25,069,052
Ensembl chrNW_004624754:25,058,204...25,069,561 		JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624765:782,703...809,461
Ensembl chrNW_004624765:782,701...809,448 		JBrowse link
G Atp6v1c2 ATPase H+ transporting V1 subunit C2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624865:4,711,324...4,734,409
Ensembl chrNW_004624865:4,711,119...4,734,740 		JBrowse link
G Atp6v1g2 ATPase H+ transporting V1 subunit G2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:24,652,156...24,654,753
Ensembl chrNW_004624754:24,651,780...24,654,860 		JBrowse link
G Bag6 BAG cochaperone 6 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:24,559,483...24,571,073
Ensembl chrNW_004624754:24,559,801...24,571,073 		JBrowse link
G Bcas3 BCAS3 microtubule associated cell migration factor ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624871:2,444,262...3,036,148
Ensembl chrNW_004624871:2,444,952...3,034,311 		JBrowse link
G Brip1 BRCA1 interacting DNA helicase 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624871:2,051,044...2,195,364
Ensembl chrNW_004624871:2,052,863...2,198,165 		JBrowse link
G Ca4 carbonic anhydrase 4 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624871:3,462,577...3,469,978
Ensembl chrNW_004624871:3,461,052...3,469,838 		JBrowse link
G Ccdc102b coiled-coil domain containing 102B ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624840:1,097,686...1,237,195 JBrowse link
G Cchcr1 coiled-coil alpha-helical rod protein 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:24,770,308...24,781,717
Ensembl chrNW_004624754:24,770,208...24,785,437 		JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624747:132,731...161,590
Ensembl chrNW_004624747:132,835...161,553 		JBrowse link
G Cdh17 cadherin 17 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624763:1,543,341...1,621,970
Ensembl chrNW_004624763:1,543,048...1,621,978 		JBrowse link
G Cdsn corneodesmosin ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:24,796,308...24,800,324
Ensembl chrNW_004624754:24,796,341...24,799,913 		JBrowse link
G Cep83 centrosomal protein 83 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624750:12,533,644...12,638,701
Ensembl chrNW_004624750:12,533,762...12,638,059 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624827:1,704,733...1,893,579 JBrowse link
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624928:357,812...401,668
Ensembl chrNW_004624928:360,704...399,714 		JBrowse link
G Cldn18 claudin 18 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624730:14,500,379...14,522,047
Ensembl chrNW_004624730:14,489,585...14,522,042 		JBrowse link
G Cldn5 claudin 5 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624747:164,113...166,502
Ensembl chrNW_004624747:164,761...165,417 		JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624963:212,470...221,697
Ensembl chrNW_004624963:212,030...221,697 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624899:1,192,078...1,230,528
Ensembl chrNW_004624899:1,192,360...1,230,404 		JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624747:569,127...588,479
Ensembl chrNW_004624747:581,832...588,333 		JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624945:734,532...767,184
Ensembl chrNW_004624945:734,532...767,168 		JBrowse link
G Csnk2b casein kinase 2 beta ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:24,533,134...24,538,233 JBrowse link
G CUNH10orf53 chromosome unknown C10orf53 homolog ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624928:285,288...350,511
Ensembl chrNW_004624928:309,959...350,471 		JBrowse link
G CUNH10orf71 chromosome unknown C10orf71 homolog ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624928:614,036...636,557
Ensembl chrNW_004624928:614,610...618,845 		JBrowse link
G CUNH1orf174 chromosome unknown C1orf174 homolog ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624818:6,691,416...6,698,288
Ensembl chrNW_004624818:6,691,432...6,698,596 		JBrowse link
G CUNH22orf39 chromosome unknown C22orf39 homolog ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624747:101,938...109,335
Ensembl chrNW_004624747:103,310...107,382 		JBrowse link
G CUNH6orf136 chromosome unknown C6orf136 homolog ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:25,054,765...25,058,103
Ensembl chrNW_004624754:25,050,910...25,057,947 		JBrowse link
G CUNH6orf15 chromosome unknown C6orf15 homolog ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:24,802,111...24,805,028 JBrowse link
G CUNH6orf47 chromosome unknown C6orf47 homolog ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:24,552,352...24,554,596 JBrowse link
G Ddr1 discoidin domain receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:24,881,439...24,905,633
Ensembl chrNW_004624754:24,880,496...24,896,995 		JBrowse link
G Ddx39b DExD-box helicase 39B ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:24,657,019...24,667,225
Ensembl chrNW_004624754:24,657,914...24,667,579 		JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624823:5,624,958...5,632,234
Ensembl chrNW_004624823:5,622,283...5,632,283 		JBrowse link
G Dffb DNA fragmentation factor subunit beta ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624818:6,700,120...6,712,449
Ensembl chrNW_004624818:6,700,050...6,712,450 		JBrowse link
G Dgcr2 DiGeorge syndrome critical region gene 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624945:204,374...295,551
Ensembl chrNW_004624945:204,133...297,341 		JBrowse link
G Dgcr6l DiGeorge syndrome critical region gene 6 like ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624747:905,239...910,562 JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624747:689,751...722,266
Ensembl chrNW_004624747:689,955...722,266 		JBrowse link
G Dhx16 DEAH-box helicase 16 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:25,040,684...25,054,632
Ensembl chrNW_004624754:25,040,711...25,057,856 		JBrowse link
G Dnah12 dynein axonemal heavy chain 12 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624821:21,611...305,696 JBrowse link
G Drgx dorsal root ganglia homeobox ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624928:566,405...592,561
Ensembl chrNW_004624928:566,793...592,507 		JBrowse link
G Ednrb endothelin receptor type B ISO RGD PMID:8570650 RGD:628515 NCBI chrNW_004624751:22,459,613...22,491,409
Ensembl chrNW_004624751:22,459,584...22,491,606 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624928:458,651...532,201
Ensembl chrNW_004624928:463,279...530,115 		JBrowse link
G Ess2 ess-2 splicing factor homolog ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624945:176,773...187,586
Ensembl chrNW_004624945:176,678...188,040 		JBrowse link
G Etfdh electron transfer flavoprotein dehydrogenase ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624848:3,639,559...3,673,771
Ensembl chrNW_004624848:3,639,294...3,677,517 		JBrowse link
G Fam170b family with sequence similarity 170 member B ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624928:821,167...823,610 JBrowse link
G Fhit fragile histidine triad diadenosine triphosphatase ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624822:6,621,609...8,069,590
Ensembl chrNW_004624822:6,621,909...7,380,047 		JBrowse link
G Flot1 flotillin 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:24,992,961...25,000,463
Ensembl chrNW_004624754:24,992,929...25,003,759 		JBrowse link
G Fn1 fibronectin 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624765:707,872...775,056
Ensembl chrNW_004624765:707,755...775,056 		JBrowse link
G Foxk1 forkhead box K1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624740:28,533,708...28,585,880
Ensembl chrNW_004624740:28,538,745...28,585,886 		JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624963:223,145...250,841
Ensembl chrNW_004624963:226,564...251,113 		JBrowse link
G Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:25,425,208...25,452,600
Ensembl chrNW_004624754:25,425,055...25,455,656 		JBrowse link
G Galnt11 polypeptide N-acetylgalactosaminyltransferase 11 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624800:4,794,436...4,866,248 JBrowse link
G Gem GTP binding protein overexpressed in skeletal muscle ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624763:1,654,369...1,666,538
Ensembl chrNW_004624763:1,654,130...1,666,540 		JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624747:418,912...489,057
Ensembl chrNW_004624747:418,519...489,529 		JBrowse link
G Gnl1 G protein nucleolar 1 (putative) ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:25,133,532...25,141,725
Ensembl chrNW_004624754:25,133,563...25,141,725 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624747:352,129...354,173
Ensembl chrNW_004624747:352,165...354,170 		JBrowse link
G Gpank1 G-patch domain and ankyrin repeats 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:24,537,770...24,541,845
Ensembl chrNW_004624754:24,538,634...24,545,561 		JBrowse link
G Gsc2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624945:172,345...176,453
Ensembl chrNW_004624945:172,345...176,191 		JBrowse link
G Gtf2h4 general transcription factor IIH subunit 4 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:24,871,006...24,876,957
Ensembl chrNW_004624754:24,871,008...24,877,436 		JBrowse link
G Guca1c guanylate cyclase activator 1C ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624731:40,199,637...40,243,207 JBrowse link
G Heatr6 HEAT repeat containing 6 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624871:4,789,695...4,825,516
Ensembl chrNW_004624871:4,790,118...4,825,485 		JBrowse link
G Hic2 HIC ZBTB transcriptional repressor 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624747:1,065,864...1,096,164
Ensembl chrNW_004624747:1,067,927...1,092,757 		JBrowse link
G Ier3 immediate early response 3 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:24,991,650...24,992,645
Ensembl chrNW_004624754:24,991,690...24,992,643 		JBrowse link
G Ino80d INO80 complex subunit D ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624765:10,040,259...10,127,449
Ensembl chrNW_004624765:10,057,460...10,116,802 		JBrowse link
G Ints2 integrator complex subunit 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624871:1,997,900...2,047,535
Ensembl chrNW_004624871:1,997,806...2,051,421 		JBrowse link
G Klhl22 kelch like family member 22 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624945:409,093...446,619
Ensembl chrNW_004624945:408,999...441,975 		JBrowse link
G Klrg1 killer cell lectin like receptor G1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624860:4,686,589...4,696,738
Ensembl chrNW_004624860:4,687,306...4,695,627 		JBrowse link
G Kmt2c lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624800:4,510,669...4,785,909
Ensembl chrNW_004624800:4,511,549...4,784,053 		JBrowse link
G Lingo2 leucine rich repeat and Ig domain containing 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624736:32,177,085...33,454,296
Ensembl chrNW_004624736:32,186,995...32,203,250 		JBrowse link
G LOC101706523 T-cell receptor-associated transmembrane adapter 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624731:40,281,086...40,319,254
Ensembl chrNW_004624731:40,280,884...40,306,653 		JBrowse link
G LOC101713307 protein HIRA ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624747:9...95,643 JBrowse link
G LOC101718785 olfactory receptor 2H2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:25,460,494...25,461,622 JBrowse link
G LOC101726258 olfactory receptor 14J1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624756:111,415...112,465
Ensembl chrNW_004624756:111,415...112,377 		JBrowse link
G Lrrc18 leucine rich repeat containing 18 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624928:980,324...1,004,150
Ensembl chrNW_004624928:980,389...1,004,137 		JBrowse link
G Lst1 leukocyte specific transcript 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:24,613,554...24,615,594 JBrowse link
G Lta lymphotoxin alpha ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:24,626,930...24,628,412
Ensembl chrNW_004624754:24,627,318...24,628,182 		JBrowse link
G Ltb lymphotoxin beta ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:24,618,888...24,620,448 JBrowse link
G Ly6g5b lymphocyte antigen 6 family member G5B ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:24,530,723...24,532,937
Ensembl chrNW_004624754:24,531,301...24,532,284 		JBrowse link
G Ly6g5c lymphocyte antigen 6 family member G5C ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:24,526,003...24,528,280 JBrowse link
G Ly6g6d lymphocyte antigen 6 family member G6D ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:24,494,299...24,496,562
Ensembl chrNW_004624754:24,494,446...24,496,100 		JBrowse link
G Ly6g6f lymphocyte antigen 6 family member G6F ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:24,499,550...24,504,048
Ensembl chrNW_004624754:24,500,678...24,503,519 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624945:691,063...709,599
Ensembl chrNW_004624945:691,059...709,564 		JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624928:1,442,216...1,494,275
Ensembl chrNW_004624928:1,439,146...1,494,266 		JBrowse link
G Mdc1 mediator of DNA damage checkpoint 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:25,007,866...25,020,950 JBrowse link
G Med13 mediator complex subunit 13 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624871:1,886,650...1,983,165
Ensembl chrNW_004624871:1,886,688...1,980,105 		JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624945:488,396...562,084 JBrowse link
G Mog myelin oligodendrocyte glycoprotein ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:25,397,191...25,412,123
Ensembl chrNW_004624754:25,397,144...25,411,319 		JBrowse link
G Morc1 MORC family CW-type zinc finger 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624731:40,014,713...40,191,395
Ensembl chrNW_004624731:39,984,649...40,191,042 		JBrowse link
G Mrpl40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624747:96,411...99,490
Ensembl chrNW_004624747:96,418...100,913 		JBrowse link
G Mrps18b mitochondrial ribosomal protein S18B ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:25,069,857...25,076,044
Ensembl chrNW_004624754:25,069,854...25,076,104 		JBrowse link
G Mtcp1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624963:212,524...218,187
Ensembl chrNW_004624963:215,462...218,187 		JBrowse link
G Mtx2 metaxin 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624787:13,399,293...13,459,819
Ensembl chrNW_004624787:13,398,713...13,459,695 		JBrowse link
G Mucl3 mucin like 3 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:24,837,320...24,840,302 JBrowse link
G Ncoa4 nuclear receptor coactivator 4 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624928:6,298...32,051
Ensembl chrNW_004624928:18,148...30,594 		JBrowse link
G Ncr3 natural cytotoxicity triggering receptor 3 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:24,607,623...24,612,716 JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624765:9,962,254...9,993,790
Ensembl chrNW_004624765:9,962,447...9,993,790 		JBrowse link
G Nfkbil1 NFKB inhibitor like 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:24,639,757...24,652,059
Ensembl chrNW_004624754:24,639,860...24,649,968 		JBrowse link
G Nkapl NFKB activating protein like ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624756:24,637,721...24,639,251 JBrowse link
G Nol10 nucleolar protein 10 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624865:4,747,674...4,800,822
Ensembl chrNW_004624865:4,747,787...4,798,734 		JBrowse link
G Nrm nurim ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:25,024,961...25,027,689
Ensembl chrNW_004624754:25,025,292...25,027,638 		JBrowse link
G Ogdhl oxoglutarate dehydrogenase L ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624928:250,483...271,633
Ensembl chrNW_004624928:251,907...273,359 		JBrowse link
G Otogl otogelin like ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624750:17,933,058...18,086,901
Ensembl chrNW_004624750:17,934,766...18,093,225 		JBrowse link
G P2rx6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624945:646,361...687,901
Ensembl chrNW_004624945:648,499...656,075 		JBrowse link
G Parg poly(ADP-ribose) glycohydrolase ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624928:54,610...188,948
Ensembl chrNW_004624928:54,874...186,353 		JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624745:31,402,791...31,516,522
Ensembl chrNW_004624745:31,403,014...31,515,751 		JBrowse link
G Pgbd1 piggyBac transposable element derived 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624756:24,590,878...24,610,823 JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624945:837,877...1,016,041
Ensembl chrNW_004624945:837,864...1,014,684 		JBrowse link
G Polr1h RNA polymerase I subunit H ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:25,340,498...25,344,032
Ensembl chrNW_004624754:25,340,155...25,344,380 		JBrowse link
G Pou5f1 POU class 5 homeobox 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:24,758,055...24,764,723 JBrowse link
G Ppid peptidylprolyl isomerase D ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624848:3,674,512...3,689,244
Ensembl chrNW_004624848:3,674,512...3,689,225 		JBrowse link
G Ppm1d protein phosphatase, Mg2+/Mn2+ dependent 1D ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624871:3,044,718...3,089,042
Ensembl chrNW_004624871:3,044,102...3,088,981 		JBrowse link
G Ppp1r10 protein phosphatase 1 regulatory subunit 10 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:25,074,980...25,091,798
Ensembl chrNW_004624754:25,076,333...25,091,907 		JBrowse link
G Ppp1r11 protein phosphatase 1 regulatory inhibitor subunit 11 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:25,336,151...25,338,389
Ensembl chrNW_004624754:25,336,151...25,338,388 		JBrowse link
G Ppp1r18 protein phosphatase 1 regulatory subunit 18 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:25,027,792...25,034,842 JBrowse link
G Prr3 proline rich 3 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:25,121,391...25,133,369
Ensembl chrNW_004624754:25,127,050...25,133,344 		JBrowse link
G Prrc2a proline rich coiled-coil 2A ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:24,572,178...24,586,696
Ensembl chrNW_004624754:24,572,546...24,584,643 		JBrowse link
G Psors1c2 psoriasis susceptibility 1 candidate 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:24,783,528...24,785,397
Ensembl chrNW_004624754:24,783,761...24,785,331 		JBrowse link
G Ranbp1 RAN binding protein 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624747:728,123...736,045
Ensembl chrNW_004624747:728,014...736,043 		JBrowse link
G Rbak RB associated KRAB zinc finger ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624740:27,681,328...27,700,055
Ensembl chrNW_004624740:27,682,835...27,701,904 		JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:25741868 NCBI chrNW_004624922:382,462...413,227
Ensembl chrNW_004624922:382,399...413,281 		JBrowse link
G Rhce Rh blood group CcEe antigens ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624764:9,516,053...9,556,628 JBrowse link
G Rnf39 ring finger protein 39 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:25,331,126...25,348,957
Ensembl chrNW_004624754:25,331,070...25,335,153 		JBrowse link
G Rpp21 ribonuclease P subunit p21 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:25,171,434...25,179,038
Ensembl chrNW_004624754:25,176,620...25,178,251 		JBrowse link
G Rtl10 retrotransposon Gag like 10 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624747:484,995...486,791 JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624747:829,947...855,942
Ensembl chrNW_004624747:829,850...855,991 		JBrowse link
G Rxfp1 relaxin family peptide receptor 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624848:10,648...115,474
Ensembl chrNW_004624848:10,918...115,310 		JBrowse link
G Scarf2 scavenger receptor class F member 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624945:392,615...404,961
Ensembl chrNW_004624945:393,412...404,958 		JBrowse link
G Sdk1 sidekick cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624740:28,819,618...29,764,492
Ensembl chrNW_004624740:28,819,502...29,764,338 		JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624945:919,639...932,515
Ensembl chrNW_004624945:915,789...932,515 		JBrowse link
G Sfta2 surfactant associated 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:24,847,854...24,853,183
Ensembl chrNW_004624754:24,852,310...24,856,605 		JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624791:13,096,268...13,490,220
Ensembl chrNW_004624791:13,097,808...13,146,544 		JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624928:403,114...405,560
Ensembl chrNW_004624928:403,503...405,095 		JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624945:155,596...159,042
Ensembl chrNW_004624945:155,604...159,667 		JBrowse link
G Slc25a13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624813:2,851,620...3,019,593
Ensembl chrNW_004624813:2,852,585...2,998,651 		JBrowse link
G Slc29a4 solute carrier family 29 member 4 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624740:28,254,635...28,280,304
Ensembl chrNW_004624740:28,254,635...28,267,133 		JBrowse link
G Slc6a6 solute carrier family 6 member 6 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624872:1,266,240...1,318,710
Ensembl chrNW_004624872:1,266,007...1,310,361 		JBrowse link
G Slc7a4 solute carrier family 7 member 4 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624945:642,082...646,247
Ensembl chrNW_004624945:642,432...646,231 		JBrowse link
G Slc8a1 solute carrier family 8 member A1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624738:21,648,277...22,026,385
Ensembl chrNW_004624738:21,651,489...21,939,927 		JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624945:799,831...837,720
Ensembl chrNW_004624945:801,833...837,564 		JBrowse link
G Swt1 SWT1 RNA endoribonuclease homolog ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624814:8,300,886...8,398,617
Ensembl chrNW_004624814:8,300,836...8,394,444 		JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624747:647,571...686,870 JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624747:386,763...395,515
Ensembl chrNW_004624747:388,904...395,098 		JBrowse link
G Tbx2 T-box transcription factor 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624871:2,428,757...2,437,447
Ensembl chrNW_004624871:2,429,407...2,437,447 		JBrowse link
G Tbx4 T-box transcription factor 4 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624871:2,365,836...2,390,269
Ensembl chrNW_004624871:2,366,823...2,390,269 		JBrowse link
G Tcf19 transcription factor 19 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:24,766,212...24,770,136
Ensembl chrNW_004624754:24,765,742...24,770,135 		JBrowse link
G Thap7 THAP domain containing 7 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624945:687,941...690,480
Ensembl chrNW_004624945:688,185...690,480 		JBrowse link
G Tmem132c transmembrane protein 132C ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624747:25,973,135...26,225,730
Ensembl chrNW_004624747:25,973,153...26,225,443 		JBrowse link
G Tmem273 transmembrane protein 273 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624928:774,664...775,533 JBrowse link
G Tmx3 thioredoxin related transmembrane protein 3 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624840:1,314,514...1,361,073 JBrowse link
G Tnf tumor necrosis factor ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531 		JBrowse link
G Tnrc18 trinucleotide repeat containing 18 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624740:28,167,902...28,253,316
Ensembl chrNW_004624740:28,170,226...28,252,338 		JBrowse link
G Trim26 tripartite motif containing 26 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:25,238,992...25,258,454
Ensembl chrNW_004624754:25,230,073...25,259,980 		JBrowse link
G Trim27 tripartite motif containing 27 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624756:24,897,206...24,908,449
Ensembl chrNW_004624756:24,897,206...24,908,478 		JBrowse link
G Trim40 tripartite motif containing 40 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:25,278,747...25,285,378 JBrowse link
G Trmt1l tRNA methyltransferase 1L ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624814:8,409,949...8,434,833 JBrowse link
G Trmt2a tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624747:722,901...727,979
Ensembl chrNW_004624747:722,607...727,947 		JBrowse link
G Tubb tubulin beta class I ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:25,001,555...25,005,459
Ensembl chrNW_004624754:25,001,552...25,005,464 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624747:485,012...569,175
Ensembl chrNW_004624747:514,158...569,154 		JBrowse link
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624747:110,090...132,145
Ensembl chrNW_004624747:110,090...132,097 		JBrowse link
G Usp32 ubiquitin specific peptidase 32 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624871:3,275,272...3,444,837
Ensembl chrNW_004624871:3,275,240...3,443,307 		JBrowse link
G Vars2 valyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:24,856,704...24,870,932
Ensembl chrNW_004624754:24,856,939...24,870,932 		JBrowse link
G Vstm4 V-set and transmembrane domain containing 4 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624928:847,501...924,779
Ensembl chrNW_004624928:841,527...924,785 		JBrowse link
G Wdfy4 WDFY family member 4 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624928:943,547...1,243,954
Ensembl chrNW_004624928:943,864...1,221,243 		JBrowse link
G Wipi2 WD repeat domain, phosphoinositide interacting 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624740:28,306,655...28,346,430
Ensembl chrNW_004624740:28,306,052...28,346,508 		JBrowse link
G Zdhhc8 zDHHC palmitoyltransferase 8 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624747:740,352...755,891
Ensembl chrNW_004624747:739,594...754,989 		JBrowse link
G Zfp57 ZFP57 zinc finger protein ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624754:25,390,107...25,397,205 JBrowse link
G Zkscan8 zinc finger with KRAB and SCAN domains 8 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624756:24,512,320...24,543,333
Ensembl chrNW_004624756:24,524,795...24,537,744 		JBrowse link
G Znf74 zinc finger protein 74 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624945:356,794...367,202 JBrowse link
G Zscan16 zinc finger and SCAN domain containing 16 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624756:24,501,886...24,503,692 JBrowse link
G Zscan23 zinc finger and SCAN domain containing 23 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624756:24,667,952...24,713,682
Ensembl chrNW_004624756:24,671,033...24,713,654 		JBrowse link
G Zscan26 zinc finger and SCAN domain containing 26 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624756:24,623,786...24,633,882
Ensembl chrNW_004624756:24,622,629...24,633,916 		JBrowse link
G Zscan9 zinc finger and SCAN domain containing 9 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chrNW_004624756:24,659,418...24,663,078 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:8444246 PMID:9156319 PMID:10026268 PMID:11207361 More... NCBI chrNW_004624868:5,129,818...5,133,780
Ensembl chrNW_004624868:5,130,938...5,133,871 		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:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:8,302,409...8,315,878
Ensembl chrNW_004624818:8,302,957...8,314,590 		JBrowse link
G Actrt2 actin related protein T2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:7,288,206...7,289,499
Ensembl chrNW_004624818:7,288,304...7,289,434 		JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chrNW_004624818:8,475,453...8,508,818
Ensembl chrNW_004624818:8,476,562...8,508,786 		JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:8,217,922...8,221,907
Ensembl chrNW_004624818:8,219,101...8,221,907 		JBrowse link
G Arhgef16 Rho guanine nucleotide exchange factor 16 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:6,949,484...6,966,195
Ensembl chrNW_004624818:6,949,484...6,966,237 		JBrowse link
G Aurkaip1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:8,246,636...8,248,002
Ensembl chrNW_004624818:8,246,646...8,248,005 		JBrowse link
G B3galt6 beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:8,360,321...8,361,975
Ensembl chrNW_004624818:8,360,849...8,361,817 		JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:8,347,292...8,352,160
Ensembl chrNW_004624818:8,348,758...8,352,150 		JBrowse link
G Calml6 calmodulin like 6 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:7,920,401...7,921,517 JBrowse link
G Ccdc27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:6,755,562...6,767,446 JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:8,233,547...8,242,547
Ensembl chrNW_004624818:8,233,574...8,242,542 		JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:6,712,616...6,737,377
Ensembl chrNW_004624818:6,716,695...6,737,883 		JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:7,876,727...7,916,762
Ensembl chrNW_004624818:7,882,658...7,918,521 		JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:8,283,925...8,287,410
Ensembl chrNW_004624818:8,283,926...8,287,274 		JBrowse link
G CUNH1orf159 chromosome unknown C1orf159 homolog ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chrNW_004624818:8,443,253...8,461,489
Ensembl chrNW_004624818:8,443,447...8,461,489 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:8,267,111...8,283,755
Ensembl chrNW_004624818:8,267,128...8,278,725 		JBrowse link
G Faap20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:7,747,602...7,756,968 JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:8,120,230...8,126,439
Ensembl chrNW_004624818:8,120,230...8,122,171 		JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:7,856,797...7,864,552
Ensembl chrNW_004624818:7,856,797...7,864,540 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:7,937,061...8,002,798
Ensembl chrNW_004624818:7,936,932...8,003,433 		JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:7,516,279...7,517,654
Ensembl chrNW_004624818:7,516,189...7,518,734 		JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:8,287,539...8,299,456
Ensembl chrNW_004624818:8,289,929...8,299,254 		JBrowse link
G Kifbp kinesin family binding protein ISO ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome OMIM
ClinVar		 PMID:15883926 PMID:18414213 PMID:23427148 PMID:24072599 PMID:24901346 More... NCBI chrNW_004624754:3,209,838...3,234,561
Ensembl chrNW_004624754:3,209,667...3,234,561 		JBrowse link
G Lrrc47 leucine rich repeat containing 47 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:6,741,029...6,749,919
Ensembl chrNW_004624818:6,740,983...6,750,877 		JBrowse link
G Megf6 multiple EGF like domains 6 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:6,867,706...6,945,383 JBrowse link
G Mib2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:8,078,677...8,091,448
Ensembl chrNW_004624818:8,077,851...8,099,547 		JBrowse link
G Mmel1 membrane metalloendopeptidase like 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:7,451,213...7,481,988
Ensembl chrNW_004624818:7,453,177...7,485,439 		JBrowse link
G Mmp23b matrix metallopeptidase 23B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:8,074,977...8,077,849
Ensembl chrNW_004624818:8,075,725...8,077,838 		JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:7,616,542...7,667,487
Ensembl chrNW_004624818:7,616,738...7,667,130 		JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:8,227,947...8,231,006
Ensembl chrNW_004624818:8,228,005...8,231,009 		JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:8,258,707...8,264,821
Ensembl chrNW_004624818:8,261,758...8,264,026 		JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:8,006,465...8,025,664 JBrowse link
G Nek9 NIMA related kinase 9 ISO ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome ClinVar PMID:25741868 NCBI chrNW_004624734:26,557,208...26,600,777 JBrowse link
G Pank4 pantothenate kinase 4 (inactive) ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:7,519,347...7,532,116
Ensembl chrNW_004624818:7,519,382...7,532,108 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:7,598,467...7,605,067
Ensembl chrNW_004624818:7,597,729...7,605,322 		JBrowse link
G Plch2 phospholipase C eta 2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:7,533,889...7,595,887
Ensembl chrNW_004624818:7,534,265...7,588,288 		JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:6,978,436...7,258,366
Ensembl chrNW_004624818:6,978,436...7,258,357 		JBrowse link
G Prkcz protein kinase C zeta ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:7,758,192...7,846,950
Ensembl chrNW_004624818:7,759,770...7,847,208 		JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:7,478,680...7,485,431
Ensembl chrNW_004624818:7,483,001...7,485,431 		JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:8,299,449...8,302,333
Ensembl chrNW_004624818:8,299,449...8,302,320 		JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:7,604,854...7,616,457
Ensembl chrNW_004624818:7,605,105...7,616,282 		JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chrNW_004624818:8,461,662...8,467,044
Ensembl chrNW_004624818:8,461,575...8,467,038 		JBrowse link
G Scnn1d sodium channel epithelial 1 subunit delta ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:8,316,300...8,321,995 JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:8,362,107...8,371,565
Ensembl chrNW_004624818:8,365,359...8,371,386 		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 chrNW_004624818:7,674,184...7,736,249
Ensembl chrNW_004624818:7,673,203...7,736,255 		JBrowse link
G Smim1 small integral membrane protein 1 (Vel blood group) ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:6,749,893...6,755,460
Ensembl chrNW_004624818:6,752,595...6,753,126 		JBrowse link
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:8,147,173...8,177,682
Ensembl chrNW_004624818:8,147,185...8,177,684 		JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:8,279,161...8,282,304
Ensembl chrNW_004624818:8,279,161...8,282,304 		JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:8,178,425...8,183,185
Ensembl chrNW_004624818:8,178,451...8,183,043 		JBrowse link
G Tmem278 transmembrane protein 278 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:8,213,876...8,217,899
Ensembl chrNW_004624818:8,215,265...8,216,922 		JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:7,916,889...7,920,138
Ensembl chrNW_004624818:7,918,625...7,920,138 		JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:7,491,473...7,505,185 JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chrNW_004624818:8,376,204...8,380,266
Ensembl chrNW_004624818:8,378,131...8,379,974 		JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:8,372,092...8,376,108
Ensembl chrNW_004624818:8,373,810...8,376,204 		JBrowse link
G Tp73 tumor protein p73 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:6,775,588...6,817,187
Ensembl chrNW_004624818:6,775,599...6,809,289 		JBrowse link
G Tprg1l tumor protein p63 regulated 1 like ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:6,850,479...6,857,979
Ensembl chrNW_004624818:6,850,486...6,858,136 		JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:7,435,250...7,447,905
Ensembl chrNW_004624818:7,427,787...7,447,303 		JBrowse link
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chrNW_004624818:8,382,673...8,389,891 JBrowse link
G Ube2j2 ubiquitin conjugating enzyme E2 J2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:8,326,592...8,347,108
Ensembl chrNW_004624818:8,326,781...8,347,370 		JBrowse link
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:8,204,223...8,208,398
Ensembl chrNW_004624818:8,204,749...8,208,358 		JBrowse link
G Wrap73 WD repeat containing, antisense to TP73 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004624818:6,838,261...6,850,115
Ensembl chrNW_004624818:6,838,376...6,850,020 		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 chrNW_004624824:1,516,481...1,655,364
Ensembl chrNW_004624824:1,517,966...1,655,329 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:25741868 PMID:26559152 PMID:28492532 NCBI chrNW_004624731:11,086,240...11,318,111
Ensembl chrNW_004624731:11,086,844...11,318,102 		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 chrNW_004624858:1,797,123...2,471,017
Ensembl chrNW_004624858:1,797,123...2,471,867 		JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chrNW_004624772:15,572,350...15,726,312
Ensembl chrNW_004624772:15,571,998...15,726,426 		JBrowse link
G Nrp2 neuropilin 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:25741868 NCBI chrNW_004624765:10,372,172...10,484,766
Ensembl chrNW_004624765:10,372,099...10,484,963 		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 chrNW_004624752:9,978,373...9,988,192
Ensembl chrNW_004624752:9,978,273...9,988,134 		JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:2008030 PMID:2660074 PMID:2904651 PMID:3078962 PMID:7536460 More... NCBI chrNW_004624922:382,462...413,227
Ensembl chrNW_004624922:382,399...413,281 		JBrowse link
G Sema3d semaphorin 3D ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chrNW_004624739:32,981,158...33,143,250
Ensembl chrNW_004624739:32,981,101...33,086,376 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:24357527 NCBI chrNW_004624752:9,965,015...9,976,244
Ensembl chrNW_004624752:9,965,756...9,973,777 		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 chrNW_004624835:2,363,059...2,436,536
Ensembl chrNW_004624835:2,363,139...2,437,643 		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 chrNW_004624913:166,931...203,008
Ensembl chrNW_004624913:166,931...202,953 		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 chrNW_004624761:25,234,048...25,238,725
Ensembl chrNW_004624761:25,234,372...25,237,102 		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 susceptibility ISO ClinVar Annotator: match by term: ECE1-related condition | ClinVar Annotator: match by term: Hirschsprung disease, cardiac defects, and autonomic dysfunction ClinVar
OMIM		 PMID:8530372 PMID:9915973 PMID:25741868 PMID:28492532 PMID:34298581 NCBI chrNW_004624764:6,222,301...6,318,423
Ensembl chrNW_004624764:6,221,867...6,318,477 		JBrowse link
Hirschsprung's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ache acetylcholinesterase (Cartwright blood group) ISO RGD PMID:21991983 RGD:5509847 NCBI chrNW_004624740:16,275,108...16,280,639
Ensembl chrNW_004624740:16,275,117...16,281,793 		JBrowse link
G Aebp2 AE binding protein 2 ISO OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 MouseDO NCBI chrNW_004624752:18,954,095...19,023,656
Ensembl chrNW_004624752:18,956,481...19,023,620 		JBrowse link
G Ahnak AHNAK nucleoprotein ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624926:1,071,969...1,101,587 JBrowse link
G Axin2 axin 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21626677 PMID:25260786 PMID:25637381 PMID:25741868 PMID:27696107 More... NCBI chrNW_004624870:2,803,743...2,832,489
Ensembl chrNW_004624870:2,800,873...2,832,626 		JBrowse link
G Bmi1 BMI1 proto-oncogene, polycomb ring finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:29429387 NCBI chrNW_004624796:6,277,201...6,282,830
Ensembl chrNW_004624796:6,274,561...6,282,984 		JBrowse link
G Cavin2 caveolae associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25792468 NCBI chrNW_004624854:4,354,099...4,364,992
Ensembl chrNW_004624854:4,354,024...4,364,992 		JBrowse link
G Ccr9 C-C motif chemokine receptor 9 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chrNW_004624730:74,989,725...74,991,400
Ensembl chrNW_004624730:74,990,318...74,996,239 		JBrowse link
G Cd14 CD14 molecule ISO protein:increased expression:intestine: RGD PMID:15117676 RGD:7193054 NCBI chrNW_004624743:33,372,023...33,374,438
Ensembl chrNW_004624743:33,367,898...33,373,922 		JBrowse link
G Cluh clustered mitochondria homolog ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chrNW_004624786:5,309,084...5,329,810
Ensembl chrNW_004624786:5,307,770...5,329,810 		JBrowse link
G Cntn5 contactin 5 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chrNW_004624878:2,369,865...3,348,339
Ensembl chrNW_004624878:2,372,472...3,092,507 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624824:1,516,481...1,655,364
Ensembl chrNW_004624824:1,517,966...1,655,329 		JBrowse link
G Csmd3 CUB and Sushi multiple domains 3 ISO ClinVar Annotator: match by term: CSMD3-associated Hirschsprung disease ClinVar NCBI chrNW_004624763:11,031,016...12,184,254
Ensembl chrNW_004624763:11,032,803...12,183,447 		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 chrNW_004624735:15,158,892...15,224,895
Ensembl chrNW_004624735:15,160,024...15,224,123 		JBrowse link
G Depdc1 DEP domain containing 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chrNW_004624742:27,240,906...27,288,872
Ensembl chrNW_004624742:27,240,342...27,258,681 		JBrowse link
G Dppa5 developmental pluripotency associated 5 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chrNW_004624734:14,128,340...14,137,121 JBrowse link
G Dscam DS cell adhesion molecule ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chrNW_004624745:28,969,464...29,560,557
Ensembl chrNW_004624745:28,969,498...29,559,968 		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 chrNW_004624918:1,730,675...2,071,231
Ensembl chrNW_004624918:1,730,708...2,071,072 		JBrowse link
G Ece1 endothelin converting enzyme 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chrNW_004624764:6,222,301...6,318,423
Ensembl chrNW_004624764:6,221,867...6,318,477 		JBrowse link
G Edn3 endothelin 3 ISO ClinVar Annotator: match by term: EDN3-related condition | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 ClinVar
OMIM		 PMID:8696331 PMID:9359047 PMID:9587491 PMID:10231870 PMID:14633923 More... NCBI chrNW_004624741:25,658,726...25,680,763 JBrowse link
G Ednrb endothelin receptor type B treatment ISO 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 RGD
OMIM
ClinVar		 PMID:8001158 PMID:8001159 PMID:8852658 PMID:8852659 PMID:8852660 More... RGD:628516 NCBI chrNW_004624751:22,459,613...22,491,409
Ensembl chrNW_004624751:22,459,584...22,491,606 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 RGD
MouseDO		 PMID:12526770 RGD:734940 NCBI chrNW_004624795:3,373,313...3,391,509
Ensembl chrNW_004624795:3,373,000...3,391,602 		JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chrNW_004624826:7,438,632...7,507,322
Ensembl chrNW_004624826:7,438,682...7,507,012 		JBrowse link
G Fat3 FAT atypical cadherin 3 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chrNW_004624735:36,951,642...37,627,652
Ensembl chrNW_004624735:37,094,858...37,622,688 		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 chrNW_004624731:11,086,240...11,318,111
Ensembl chrNW_004624731:11,086,844...11,318,102 		JBrowse link
G Fmn2 formin 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chrNW_004624771:10,641,845...10,956,213
Ensembl chrNW_004624771:10,642,515...10,953,480 		JBrowse link
G Gdnf glial cell derived neurotrophic factor susceptibility ISO 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 OMIM
ClinVar		 PMID:8896568 PMID:8896569 PMID:8968758 PMID:9215674 PMID:9359036 More... NCBI chrNW_004624759:17,263,570...17,290,046
Ensembl chrNW_004624759:17,263,969...17,287,723 		JBrowse link
G Gfra1 GDNF family receptor alpha 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chrNW_004624737:30,325,962...30,526,311
Ensembl chrNW_004624737:30,324,515...30,526,486 		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 chrNW_004624740:18,961,395...19,238,760
Ensembl chrNW_004624740:18,975,596...19,235,900 		JBrowse link
G Hdac8 histone deacetylase 8 ISO protein:decreased expression:colon (human) RGD PMID:16771768 RGD:13208819 NCBI chrNW_004624903:2,620,571...2,852,247
Ensembl chrNW_004624903:2,620,501...2,852,822 		JBrowse link
G Ihh Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chrNW_004624823:5,959,329...5,965,584
Ensembl chrNW_004624823:5,959,448...5,964,769 		JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:28492532 NCBI chrNW_004624780:922,524...978,687
Ensembl chrNW_004624780:923,744...970,519 		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 chrNW_004624802:2,042,486...2,098,921
Ensembl chrNW_004624802:2,047,409...2,098,545 		JBrowse link
G Itgb1 integrin subunit beta 1 ISO OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 MouseDO NCBI chrNW_004624805:8,748,848...8,800,259
Ensembl chrNW_004624805:8,765,949...8,802,149 		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 chrNW_004624761:14,330,224...14,380,680
Ensembl chrNW_004624761:14,330,489...14,379,051 		JBrowse link
G Kit KIT proto-oncogene, receptor tyrosine kinase ISO protein:decreased expression:intestine smooth muscle"
protein:decreased expression:aganglionic colon:		 RGD PMID:8831584 PMID:9247236 RGD:12910727 RGD:12910747 NCBI chrNW_004624761:14,733,912...14,831,428 JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:28492532 NCBI chrNW_004624946:512,413...533,669
Ensembl chrNW_004624946:513,297...525,009 		JBrowse link
G LOC101712555 NADPH--cytochrome P450 reductase ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chrNW_004624740:14,739,458...14,790,736
Ensembl chrNW_004624740:14,733,427...14,791,065 		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 chrNW_004624858:1,797,123...2,471,017
Ensembl chrNW_004624858:1,797,123...2,471,867 		JBrowse link
G Lztfl1 leucine zipper transcription factor like 1 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chrNW_004624730:75,041,943...75,069,972
Ensembl chrNW_004624730:75,041,790...75,071,728 		JBrowse link
G Man2a2 mannosidase alpha class 2A member 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chrNW_004624768:17,323,068...17,345,462
Ensembl chrNW_004624768:17,324,547...17,345,441 		JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chrNW_004624945:488,396...562,084 JBrowse link
G Mgam2 maltase-glucoamylase 2 (putative) ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chrNW_004624765:22,143,948...22,250,206
Ensembl chrNW_004624765:22,160,073...22,269,158 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:25741868 NCBI chrNW_004624767:1,406,563...1,420,778
Ensembl chrNW_004624767:1,406,587...1,420,436 		JBrowse link
G Nav2 neuron navigator 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chrNW_004624766:11,056,877...11,417,291
Ensembl chrNW_004624766:11,170,921...11,414,050 		JBrowse link
G Ncln nicalin ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chrNW_004624828:6,018,438...6,035,310
Ensembl chrNW_004624828:6,018,439...6,035,446 		JBrowse link
G Ngfr nerve growth factor receptor ISO protein:decreased expression:lamina propria:lack of staining is a marker for HD RGD PMID:7807351 RGD:5508387 NCBI chrNW_004624795:5,623,686...5,639,545
Ensembl chrNW_004624795:5,623,700...5,639,655 		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 chrNW_004624772:15,572,350...15,726,312
Ensembl chrNW_004624772:15,571,998...15,726,426 		JBrowse link
G Notch4 notch receptor 4 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chrNW_004624754:24,108,661...24,128,053 JBrowse link
G Nrg1 neuregulin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22974608 NCBI chrNW_004624780:11,297,306...11,525,236
Ensembl chrNW_004624780:11,301,182...12,424,066 		JBrowse link
G Nrg3 neuregulin 3 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624841:4,213,089...5,285,255
Ensembl chrNW_004624841:4,219,084...5,285,240 		JBrowse link
G Nrp2 neuropilin 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 NCBI chrNW_004624765:10,372,172...10,484,766
Ensembl chrNW_004624765:10,372,099...10,484,963 		JBrowse link
G Nrtn neurturin ISO RGD PMID:9700200 RGD:1600267 NCBI chrNW_004624828:4,400,392...4,412,990
Ensembl chrNW_004624828:4,400,392...4,412,972 		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 PMID:25741868 NCBI chrNW_004624860:2,416,448...2,479,216
Ensembl chrNW_004624860:2,416,503...2,479,225 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO protein:altered expression:intestine RGD PMID:8943115 RGD:5684546 NCBI chrNW_004624885:1,989,027...2,005,474
Ensembl chrNW_004624885:1,989,138...2,005,577 		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 chrNW_004624817:5,125,658...5,245,453
Ensembl chrNW_004624817:5,123,977...5,245,286 		JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:28492532 NCBI chrNW_004624767:20,123,845...20,325,191
Ensembl chrNW_004624767:20,123,725...20,324,967 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chrNW_004624791:9,042,311...9,992,341
Ensembl chrNW_004624791:9,195,902...9,990,131 		JBrowse link
G Pcdhac1 protocadherin alpha subfamily C, 1 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 NCBI chrNW_004624774:216,504...219,816 JBrowse link
G Pgrmc2 progesterone receptor membrane component 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chrNW_004624777:9,119,086...9,136,814
Ensembl chrNW_004624777:9,121,021...9,136,806 		JBrowse link
G Phax phosphorylated adaptor for RNA export ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chrNW_004624774:15,006,115...15,029,252
Ensembl chrNW_004624774:15,006,852...15,029,177 		JBrowse link
G Phox2b paired like homeobox 2B ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chrNW_004624761:25,234,048...25,238,725
Ensembl chrNW_004624761:25,234,372...25,237,102 		JBrowse link
G Phrf1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chrNW_004624766:21,853,708...21,880,616
Ensembl chrNW_004624766:21,850,516...21,877,072 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis class O ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:25741868 NCBI chrNW_004624915:284,079...294,696
Ensembl chrNW_004624915:284,333...291,467 		JBrowse link
G Plau plasminogen activator, urokinase ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624754:7,405,637...7,415,870
Ensembl chrNW_004624754:7,408,983...7,416,559 		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 NCBI chrNW_004624752:9,978,373...9,988,192
Ensembl chrNW_004624752:9,978,273...9,988,134 		JBrowse link
G Prokr1 prokineticin receptor 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chrNW_004624762:4,667,733...4,679,878
Ensembl chrNW_004624762:4,667,641...4,679,911 		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 chrNW_004624753:16,929,503...16,995,255
Ensembl chrNW_004624753:16,935,251...16,995,389 		JBrowse link
G Ret ret proto-oncogene ISO 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
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: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3
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: Hirschsprung disease, susceptibility to, 3
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: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4
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: 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, 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
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
OMIM		 PMID:2008030 PMID:2639553 PMID:2660074 PMID:2904651 PMID:3078962 More... NCBI chrNW_004624922:382,462...413,227
Ensembl chrNW_004624922:382,399...413,281 		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 chrNW_004624739:32,981,158...33,143,250
Ensembl chrNW_004624739:32,981,101...33,086,376 		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 chrNW_004624786:4,487,005...4,497,706
Ensembl chrNW_004624786:4,486,978...4,497,585 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:20972907 RGD:12801434 NCBI chrNW_004624800:2,202,986...2,215,309
Ensembl chrNW_004624800:2,203,393...2,212,068 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:10975929 RGD:12879497 NCBI chrNW_004624892:2,110,310...2,148,023
Ensembl chrNW_004624892:2,117,561...2,148,037 		JBrowse link
G Snf8 SNF8 subunit of ESCRT-II ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chrNW_004624795:5,318,803...5,328,542
Ensembl chrNW_004624795:5,318,802...5,328,768 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:24357527 NCBI chrNW_004624752:9,965,015...9,976,244
Ensembl chrNW_004624752:9,965,756...9,973,777 		JBrowse link
G Stx1a syntaxin 1A ISO RGD PMID:11345516 RGD:1581432 NCBI chrNW_004624740:14,104,033...14,120,133
Ensembl chrNW_004624740:14,104,050...14,120,133 		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 chrNW_004624754:4,808,463...4,821,448
Ensembl chrNW_004624754:4,808,618...4,822,102 		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 chrNW_004624835:2,363,059...2,436,536
Ensembl chrNW_004624835:2,363,139...2,437,643 		JBrowse link
G Thbs4 thrombospondin 4 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chrNW_004624869:4,553,192...4,601,076
Ensembl chrNW_004624869:4,553,194...4,601,587 		JBrowse link
G Tmem165 transmembrane protein 165 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chrNW_004624761:14,039,698...14,066,750
Ensembl chrNW_004624761:14,038,758...14,066,894 		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 chrNW_004624913:166,931...203,008
Ensembl chrNW_004624913:166,931...202,953 		JBrowse link
G Utp25 UTP25 small subunit processome component ISO CTD Direct Evidence: marker/mechanism CTD PMID:25007945 NCBI chrNW_004624807:2,069,501...2,166,859
Ensembl chrNW_004624807:2,145,963...2,166,885 		JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624754:7,484,759...7,590,108
Ensembl chrNW_004624754:7,484,773...7,590,108 		JBrowse link
G Wnt8b Wnt family member 8B ISO RGD PMID:20972907 RGD:12801434 NCBI chrNW_004624831:139,884...149,135
Ensembl chrNW_004624831:129,252...148,553 		JBrowse link
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chrNW_004624786:4,080,650...4,135,200
Ensembl chrNW_004624786:4,080,427...4,135,459 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chrNW_004624732:44,097,348...44,226,701
Ensembl chrNW_004624732:44,101,613...44,139,997 		JBrowse link
G Zhx2 zinc fingers and homeoboxes 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chrNW_004624735:31,882,434...32,013,773 JBrowse link
G Znf592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chrNW_004624768:18,007,098...18,054,320
Ensembl chrNW_004624768:18,030,118...18,054,346 		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 chrNW_004624790:4,822,467...4,854,852
Ensembl chrNW_004624790:4,832,494...4,854,845 		JBrowse link
G Arhgap15 Rho GTPase activating protein 15 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chrNW_004624732:42,865,010...43,482,670
Ensembl chrNW_004624732:42,865,128...43,481,731 		JBrowse link
G Gtdc1 glycosyltransferase like domain containing 1 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar PMID:12920073 NCBI chrNW_004624732:43,629,144...44,044,616
Ensembl chrNW_004624732:43,646,458...43,909,842 		JBrowse link
G Hnmt histamine N-methyltransferase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chrNW_004624732:37,621,014...37,689,873
Ensembl chrNW_004624732:37,620,925...37,691,708 		JBrowse link
G Kynu kynureninase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chrNW_004624732:42,627,789...42,751,037
Ensembl chrNW_004624732:42,627,715...42,753,165 		JBrowse link
G Lrp1b LDL receptor related protein 1B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chrNW_004624732:39,993,972...41,903,552
Ensembl chrNW_004624732:39,993,907...41,902,824 		JBrowse link
G Nxph2 neurexophilin 2 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chrNW_004624732:38,433,202...38,560,449
Ensembl chrNW_004624732:38,433,156...38,560,534 		JBrowse link
G Spopl speckle type BTB/POZ protein like ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chrNW_004624732:38,214,876...38,297,363
Ensembl chrNW_004624732:38,277,686...38,293,970 		JBrowse link
G Thsd7b thrombospondin type 1 domain containing 7B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chrNW_004624732:36,263,704...37,263,010
Ensembl chrNW_004624732:36,426,431...37,262,668 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Hirschsprung disease mental retardation syndrome | ClinVar Annotator: match by term: Mowat-Wilson syndrome | ClinVar Annotator: match by term: ZEB2-related condition OMIM
ClinVar		 PMID:2030158 PMID:9536098 PMID:9719364 PMID:11279515 PMID:11448942 More... NCBI chrNW_004624732:44,097,348...44,226,701
Ensembl chrNW_004624732:44,101,613...44,139,997 		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 ISO OMIM:609136 MouseDO NCBI chrNW_004624794:101,095...106,508
Ensembl chrNW_004624794:100,824...106,444 		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 chrNW_004624752:9,978,373...9,988,192
Ensembl chrNW_004624752:9,978,273...9,988,134 		JBrowse link
G Sox10 SRY-box transcription factor 10 severity ISO ClinVar Annotator: match by term: PCWH syndrome | ClinVar Annotator: match by term: Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease OMIM
ClinVar
RGD		 PMID:1636383 PMID:9462749 PMID:10482261 PMID:10762540 PMID:11026454 More... RGD:12802339 NCBI chrNW_004624752:9,965,015...9,976,244
Ensembl chrNW_004624752:9,965,756...9,973,777 		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 ISO ClinVar Annotator: match by term: Aganglionosis, total intestinal ClinVar PMID:14633923 PMID:16944573 PMID:17554617 PMID:18162831 PMID:20127975 More... NCBI chrNW_004624751:22,459,613...22,491,409
Ensembl chrNW_004624751:22,459,584...22,491,606 		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 chrNW_004624741:25,658,726...25,680,763 JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Hirschsprung disease with pigmentary anomaly ClinVar PMID:14633923 PMID:16944573 PMID:17554617 PMID:18162831 PMID:20127975 More... NCBI chrNW_004624751:22,459,613...22,491,409
Ensembl chrNW_004624751:22,459,584...22,491,606 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO DNA:missense mutations,insertion,deletion:cds: RGD PMID:9462749 RGD:12832744 NCBI chrNW_004624752:9,965,015...9,976,244
Ensembl chrNW_004624752:9,965,756...9,973,777 		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
OMIM		 PMID:7778600 PMID:8001158 PMID:8001159 PMID:8634719 PMID:8852659 More... NCBI chrNW_004624751:22,459,613...22,491,409
Ensembl chrNW_004624751:22,459,584...22,491,606 		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 chrNW_004624752:9,978,373...9,988,192
Ensembl chrNW_004624752:9,978,273...9,988,134 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4A ClinVar PMID:25741868 NCBI chrNW_004624752:9,965,015...9,976,244
Ensembl chrNW_004624752:9,965,756...9,973,777 		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
OMIM		 PMID:8630503 PMID:8696331 PMID:9359047 PMID:9587491 PMID:11303518 More... NCBI chrNW_004624741:25,658,726...25,680,763 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 chrNW_004624752:9,978,373...9,988,192
Ensembl chrNW_004624752:9,978,273...9,988,134 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4C OMIM
ClinVar		 PMID:9462749 PMID:10077527 PMID:15004559 PMID:18348274 PMID:21898658 More... NCBI chrNW_004624752:9,965,015...9,976,244
Ensembl chrNW_004624752:9,965,756...9,973,777 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14231
    disease of anatomical entity 13933
      gastrointestinal system disease 6063
        intestinal disease 2720
          colonic disease 2045
            megacolon 339
              Hirschsprung's disease + 159
              toxic megacolon 0
paths to the root