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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:megacolon
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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 ABHD16A abhydrolase domain containing 16A, phospholipase ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:40,320,749...40,336,922
Ensembl chr17:40,320,878...40,336,720 		JBrowse link
G AHNAK AHNAK nucleoprotein ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 1:11,352,848...11,384,944 JBrowse link
G AIF1 allograft inflammatory factor 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106
G AIFM3 AIF family member 3 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:4,901,118...4,917,290
Ensembl chr19:4,904,050...4,918,224 		JBrowse link
G AKT3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr25:80,509,701...80,878,792
Ensembl chr25:80,515,168...80,816,018 		JBrowse link
G AP5Z1 adaptor related protein complex 5 subunit zeta 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr28:16,852,314...16,868,408
Ensembl chr28:16,851,998...16,868,395 		JBrowse link
G APOM apolipoprotein M ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106
G APPBP2 amyloid beta precursor protein binding protein 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr16:31,674,090...31,754,323
Ensembl chr16:31,678,566...31,754,309 		JBrowse link
G ARHGAP22 Rho GTPase activating protein 22 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 9:43,140,076...43,349,962
Ensembl chr 9:43,316,598...43,349,602 		JBrowse link
G ARVCF ARVCF delta catenin family member ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:5,721,887...5,775,910
Ensembl chr19:5,755,146...5,775,109 		JBrowse link
G ASAH2 N-acylsphingosine amidohydrolase 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 9:80,409,649...80,501,527
Ensembl chr 9:80,409,478...80,476,731 		JBrowse link
G ATAT1 alpha tubulin acetyltransferase 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:41,807,405...41,830,670
Ensembl chr17:41,807,291...41,830,000 		JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:101,128,583...101,166,668 JBrowse link
G ATP6V1C2 ATPase H+ transporting V1 subunit C2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr14:96,827,671...96,894,854
Ensembl chr14:96,828,451...96,893,116 		JBrowse link
G ATP6V1G2 ATPase H+ transporting V1 subunit G2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:40,440,321...40,442,701
Ensembl chr17:40,440,605...40,445,669 		JBrowse link
G BAG6 BAG cochaperone 6 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106
G BCAS3 BCAS3 microtubule associated cell migration factor ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr16:31,912,523...32,620,308 JBrowse link
G BRIP1 BRCA1 interacting DNA helicase 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr16:32,909,226...33,085,551
Ensembl chr16:32,910,693...33,082,587 		JBrowse link
G C2CD4B C2 calcium dependent domain containing 4B ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr26:21,359,297...21,361,910
Ensembl chr26:21,360,448...21,361,542 		JBrowse link
G CA4 carbonic anhydrase 4 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr16:31,369,238...31,379,366 JBrowse link
G CCDC102B coiled-coil domain containing 102B ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr18:10,646,633...10,942,360
Ensembl chr18:10,646,918...10,904,913 		JBrowse link
G CCHCR1 coiled-coil alpha-helical rod protein 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:41,319,392...41,334,661
Ensembl chr17:41,319,423...41,334,502 		JBrowse link
G CDC45 cell division cycle 45 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:6,232,610...6,275,743
Ensembl chr19:6,231,591...6,275,294 		JBrowse link
G CDH17 cadherin 17 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 8:89,101,788...89,179,353
Ensembl chr 8:89,101,744...89,179,251 		JBrowse link
G CDSN corneodesmosin ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:41,352,063...41,359,344 JBrowse link
G CEP83 centrosomal protein 83 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:89,692,069...89,858,565
Ensembl chr11:89,703,972...89,827,267 		JBrowse link
G CFTR CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr21:86,154,313...86,332,436 JBrowse link
G CHAT choline O-acetyltransferase ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 9:42,159,367...42,216,137
Ensembl chr 9:42,162,601...42,214,705 		JBrowse link
G CHCT1 CHD1 helical C-terminal domain containing 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr16:31,651,686...31,664,648
Ensembl chr16:31,653,036...31,664,488 		JBrowse link
G CLDN18 claudin 18 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr15:52,509,568...52,533,205
Ensembl chr15:52,508,887...52,532,836 		JBrowse link
G CLDN5 claudin 5 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:6,227,881...6,230,199
Ensembl chr19:6,228,965...6,229,621 		JBrowse link
G CLTCL1 clathrin heavy chain like 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:6,455,178...6,568,930
Ensembl chr19:6,455,248...6,573,058 		JBrowse link
G CMC4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr  X:129,348,831...129,358,601
Ensembl chr  X:129,349,054...129,351,326 		JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:74,455,133...74,493,392 JBrowse link
G COMT catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:5,775,829...5,803,260
Ensembl chr19:5,773,225...5,785,422 		JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106
G CSNK2B casein kinase 2 beta ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:40,354,520...40,359,136
Ensembl chr17:40,352,367...40,358,401 		JBrowse link
G CTXND1 cortexin domain containing 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106
G CUNH10orf53 chromosome unknown C10orf53 homolog ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 9:42,131,440...42,146,660 JBrowse link
G CUNH10orf71 chromosome unknown C10orf71 homolog ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 9:42,483,873...42,510,826
Ensembl chr 9:42,484,882...42,489,189 		JBrowse link
G CUNH1orf174 chromosome unknown C1orf174 homolog ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:127,780,801...127,792,440
Ensembl chr20:127,780,903...127,791,615 		JBrowse link
G CUNH22orf39 chromosome unknown C22orf39 homolog ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:6,307,277...6,312,609
Ensembl chr19:6,307,916...6,311,459 		JBrowse link
G CUNH4orf46 chromosome unknown C4orf46 homolog ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 7:105,210,313...105,213,992
Ensembl chr 7:105,208,740...105,214,672 		JBrowse link
G CUNH6orf136 chromosome unknown C6orf136 homolog ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:41,801,354...41,807,255 JBrowse link
G CUNH6orf15 chromosome unknown C6orf15 homolog ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:41,361,046...41,364,223
Ensembl chr17:41,361,677...41,362,812 		JBrowse link
G CUNH6orf47 chromosome unknown C6orf47 homolog ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106
G DDR1 discoidin domain receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:41,564,271...41,583,404
Ensembl chr17:41,564,992...41,575,682 		JBrowse link
G DDX39B DExD-box helicase 39B ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:40,445,258...40,457,379
Ensembl chr17:40,447,061...40,456,826 		JBrowse link
G DES desmin ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:105,312,348...105,320,869 JBrowse link
G DFFB DNA fragmentation factor subunit beta ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:127,800,351...127,823,512 JBrowse link
G DGCR2 DiGeorge syndrome critical region gene 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:6,628,092...6,710,070
Ensembl chr19:6,628,096...6,707,507 		JBrowse link
G DGCR6L DiGeorge syndrome critical region gene 6 like ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:2,436,534...2,441,930 JBrowse link
G DGCR8 DGCR8 microprocessor complex subunit ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:5,627,924...5,657,773
Ensembl chr19:5,629,684...5,652,191 		JBrowse link
G DHX16 DEAH-box helicase 16 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:41,780,965...41,801,310
Ensembl chr17:41,780,987...41,801,219 		JBrowse link
G DNAH12 dynein axonemal heavy chain 12 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:18,613,937...18,860,856
Ensembl chr22:18,614,309...18,820,007 		JBrowse link
G DRGX dorsal root ganglia homeobox ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 9:42,415,442...42,447,912
Ensembl chr 9:42,416,021...42,445,858 		JBrowse link
G EDNRB endothelin receptor type B ISO RGD PMID:8570650 RGD:628515 NCBI chr 3:56,969,493...56,993,719
Ensembl chr 3:56,969,101...56,992,731 		JBrowse link
G ESS2 ess-2 splicing factor homolog ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:6,604,275...6,615,316
Ensembl chr19:6,604,345...6,615,055 		JBrowse link
G ETFDH electron transfer flavoprotein dehydrogenase ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 7:105,214,231...105,252,100
Ensembl chr 7:105,213,653...105,254,502 		JBrowse link
G FAM170B family with sequence similarity 170 member B ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 9:42,667,503...42,671,443
Ensembl chr 9:42,668,682...42,670,983 		JBrowse link
G FHIT fragile histidine triad diadenosine triphosphatase ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:21,006,010...22,474,056 JBrowse link
G FLOT1 flotillin 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:41,714,354...41,725,820
Ensembl chr17:41,714,402...41,725,397 		JBrowse link
G FN1 fibronectin 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:101,177,867...101,254,613
Ensembl chr10:101,176,789...101,254,633 		JBrowse link
G FOXK1 forkhead box K1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr28:16,875,747...16,962,813
Ensembl chr28:16,880,884...16,962,734 		JBrowse link
G FRMPD2 FERM and PDZ domain containing 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 9:43,520,355...43,650,045
Ensembl chr 9:43,544,323...43,644,831 		JBrowse link
G FUNDC2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr  X:129,315,315...129,342,395
Ensembl chr  X:129,315,465...129,342,193 		JBrowse link
G GABBR1 gamma-aminobutyric acid type B receptor subunit 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:42,985,816...43,017,278
Ensembl chr17:42,986,513...43,014,577 		JBrowse link
G GALNT11 polypeptide N-acetylgalactosaminyltransferase 11 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr21:120,207,410...120,287,339
Ensembl chr21:120,207,464...120,286,688 		JBrowse link
G GEM GTP binding protein overexpressed in skeletal muscle ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 8:89,219,484...89,232,788
Ensembl chr 8:89,218,782...89,232,753 		JBrowse link
G GNB1L G protein subunit beta 1 like ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:5,889,395...5,959,515
Ensembl chr19:5,890,567...5,959,510 		JBrowse link
G GNL1 G protein nucleolar 1 (putative) ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:41,898,562...41,911,042
Ensembl chr17:41,900,530...41,910,934 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:6,020,618...6,021,646 JBrowse link
G GPANK1 G-patch domain and ankyrin repeats 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:40,358,652...40,362,734
Ensembl chr17:40,359,961...40,362,547 		JBrowse link
G GPX5 glutathione peroxidase 5 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:44,027,538...44,037,304
Ensembl chr17:44,028,543...44,036,686 		JBrowse link
G GPX6 glutathione peroxidase 6 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:44,046,748...44,058,881 JBrowse link
G GSC2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:6,598,246...6,601,230
Ensembl chr19:6,598,259...6,599,532 		JBrowse link
G GTF2H4 general transcription factor IIH subunit 4 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:41,550,167...41,556,538
Ensembl chr17:41,550,287...41,556,054 		JBrowse link
G GUCA1C guanylate cyclase activator 1C ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:71,832,965...71,880,823
Ensembl chr22:71,833,363...71,880,438 		JBrowse link
G HEATR6 HEAT repeat containing 6 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr16:29,763,992...29,800,729
Ensembl chr16:29,762,421...29,800,577 		JBrowse link
G HIC2 HIC ZBTB transcriptional repressor 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:4,584,633...4,622,519
Ensembl chr19:4,613,833...4,617,835 		JBrowse link
G HIRA histone cell cycle regulator ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:6,324,050...6,424,999
Ensembl chr19:6,324,253...6,425,641 		JBrowse link
G IER3 immediate early response 3 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:41,712,539...41,713,895
Ensembl chr17:41,712,528...41,714,126 		JBrowse link
G INO80D INO80 complex subunit D ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:91,770,873...91,864,797
Ensembl chr10:91,781,563...91,843,787 		JBrowse link
G INTS2 integrator complex subunit 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr16:33,086,460...33,148,261
Ensembl chr16:33,086,467...33,148,084 		JBrowse link
G KLHL22 kelch like family member 22 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:5,211,732...5,264,953
Ensembl chr19:5,218,653...5,265,063 		JBrowse link
G KLRG1 killer cell lectin like receptor G1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:8,808,676...8,829,406
Ensembl chr11:8,808,943...8,828,685 		JBrowse link
G KMT2C lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr21:120,299,295...120,587,843
Ensembl chr21:120,301,188...120,587,137 		JBrowse link
G L3MBTL4 L3MBTL histone methyl-lysine binding protein 4 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr18:65,029,701...65,471,816
Ensembl chr18:65,029,713...65,471,137 		JBrowse link
G LINC02875 long intergenic non-protein coding RNA 2875 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr16:32,638,810...32,640,613 JBrowse link
G LOC103221386 cysteine-rich secretory protein 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:22,694,882...22,721,673
Ensembl chr17:22,699,388...22,721,751 		JBrowse link
G LOC103221756 lymphocyte antigen 6 family member G6F ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:40,313,045...40,340,331
Ensembl chr17:40,305,738...40,316,963 		JBrowse link
G LOC103221832 ATP-binding cassette sub-family F member 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:41,866,152...41,885,673
Ensembl chr17:41,866,062...41,884,972 		JBrowse link
G LOC103221879 olfactory receptor 2H2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:43,028,423...43,031,702
Ensembl chr17:43,029,422...43,030,357 		JBrowse link
G LOC103221889 olfactory receptor 5V1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:43,228,075...43,231,547
Ensembl chr17:43,228,604...43,229,566 		JBrowse link
G LOC103221890 olfactory receptor 14J1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:43,256,772...43,261,237
Ensembl chr17:43,257,284...43,258,246 		JBrowse link
G LOC103221901 putative olfactory receptor 2B3 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:43,498,107...43,500,622
Ensembl chr17:43,499,469...43,500,407 		JBrowse link
G LOC103221903 olfactory receptor 2W1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:43,532,816...43,534,448
Ensembl chr17:43,533,431...43,534,390 		JBrowse link
G LOC103221931 zinc finger protein with KRAB and SCAN domains 8 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:44,434,450...44,456,668
Ensembl chr17:44,439,914...44,452,992 		JBrowse link
G LOC103228361 T-cell receptor-associated transmembrane adapter 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:71,939,447...71,972,187
Ensembl chr22:71,939,207...71,972,172 		JBrowse link
G LRRC18 leucine rich repeat containing 18 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 9:42,861,868...42,887,733
Ensembl chr 9:42,861,657...42,889,270 		JBrowse link
G LST1 leukocyte specific transcript 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106
G LTA lymphotoxin alpha ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106
G LTB lymphotoxin beta ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106
G LY6G5B lymphocyte antigen 6 family member G5B ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:40,352,182...40,354,423 JBrowse link
G LY6G5C lymphocyte antigen 6 family member G5C ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:40,342,875...40,348,537
Ensembl chr17:40,344,510...40,348,254 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:4,917,381...4,935,174
Ensembl chr19:4,918,360...4,933,439 		JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 9:43,356,603...43,489,066
Ensembl chr 9:43,356,308...43,393,425 		JBrowse link
G MCCD1 mitochondrial coiled-coil domain 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:40,457,370...40,458,659
Ensembl chr17:40,457,665...40,458,569 		JBrowse link
G MDC1 mediator of DNA damage checkpoint 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:41,735,584...41,754,618
Ensembl chr17:41,739,419...41,755,141 		JBrowse link
G MED13 mediator complex subunit 13 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr16:33,163,032...33,285,385
Ensembl chr16:33,162,852...33,285,445 		JBrowse link
G MED15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:5,111,512...5,195,677
Ensembl chr19:5,112,435...5,167,139 		JBrowse link
G MICB MHC class I polypeptide-related sequence B ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:40,518,365...40,532,637 JBrowse link
G MMD2 monocyte to macrophage differentiation associated 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr28:16,693,172...16,746,310
Ensembl chr28:16,693,292...16,744,894 		JBrowse link
G MOG myelin oligodendrocyte glycoprotein ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:42,947,174...42,963,046
Ensembl chr17:42,947,279...42,962,159 		JBrowse link
G MORC1 MORC family CW-type zinc finger 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:71,664,183...71,828,879 JBrowse link
G MRPL40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:6,319,745...6,323,955
Ensembl chr19:6,319,263...6,323,799 		JBrowse link
G MRPS18B mitochondrial ribosomal protein S18B ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:41,830,763...41,839,026 JBrowse link
G MSMB microseminoprotein beta ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 9:41,796,948...41,810,373
Ensembl chr 9:41,803,922...41,810,276 		JBrowse link
G MTCP1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr  X:129,351,336...129,358,601
Ensembl chr  X:129,352,805...129,353,322 		JBrowse link
G MTX2 metaxin 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:61,845,509...61,914,661
Ensembl chr10:61,845,564...61,917,012 		JBrowse link
G MUC22 mucin 22 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:41,438,781...41,458,880
Ensembl chr17:41,439,351...41,457,869 		JBrowse link
G MUCL3 mucin like 3 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:41,510,045...41,525,120 JBrowse link
G NACA2 nascent polypeptide associated complex subunit alpha 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr16:32,816,138...32,817,079 JBrowse link
G NCOA4 nuclear receptor coactivator 4 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 9:41,813,018...41,836,974
Ensembl chr 9:41,826,320...41,837,505 		JBrowse link
G NCR3 natural cytotoxicity triggering receptor 3 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:91,893,337...91,927,559
Ensembl chr10:91,893,616...91,927,592 		JBrowse link
G NFKBIL1 NFKB inhibitor like 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:40,428,001...40,440,386
Ensembl chr17:40,428,222...40,439,433 		JBrowse link
G NKAPL NFKB activating protein like ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:44,305,446...44,323,491 JBrowse link
G NOL10 nucleolar protein 10 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr14:96,929,399...97,045,962
Ensembl chr14:96,929,085...97,047,597 		JBrowse link
G NRM nurim ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:41,762,420...41,765,757
Ensembl chr17:41,762,829...41,765,867 		JBrowse link
G OGDHL oxoglutarate dehydrogenase L ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 9:42,070,452...42,099,565
Ensembl chr 9:42,074,064...42,099,706 		JBrowse link
G OTOGL otogelin like ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:75,717,176...75,882,627
Ensembl chr11:75,729,405...75,881,334 		JBrowse link
G P2RX6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:4,958,713...4,969,443
Ensembl chr19:4,958,671...4,969,724 		JBrowse link
G PARG poly(ADP-ribose) glycohydrolase ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 9:41,867,776...42,006,845
Ensembl chr 9:41,869,061...42,005,789 		JBrowse link
G PCNT pericentrin ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 2:89,934,888...90,046,767
Ensembl chr 2:89,936,210...90,046,328 		JBrowse link
G PGBD1 piggyBac transposable element derived 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:44,262,695...44,284,189
Ensembl chr17:44,261,438...44,283,544 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:4,648,184...4,797,573
Ensembl chr19:4,648,183...4,797,396 		JBrowse link
G POLR1H RNA polymerase I subunit H ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:42,434,992...42,438,993
Ensembl chr17:42,435,196...42,438,981 		JBrowse link
G POU5F1 POU class 5 homeobox 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:41,306,523...41,313,065 JBrowse link
G PPID peptidylprolyl isomerase D ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 7:105,241,579...105,266,761 JBrowse link
G PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr16:31,833,145...31,900,962
Ensembl chr16:31,833,160...31,900,963 		JBrowse link
G PPP1R10 protein phosphatase 1 regulatory subunit 10 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:41,839,504...41,857,228
Ensembl chr17:41,839,833...41,858,470 		JBrowse link
G PPP1R11 protein phosphatase 1 regulatory inhibitor subunit 11 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:42,429,564...42,432,758
Ensembl chr17:42,430,478...42,432,659 		JBrowse link
G PPP1R18 protein phosphatase 1 regulatory subunit 18 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:41,765,854...41,777,697
Ensembl chr17:41,766,517...41,778,265 		JBrowse link
G PRR3 proline rich 3 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:41,892,924...41,900,021
Ensembl chr17:41,891,721...41,899,371 		JBrowse link
G PRRC2A proline rich coiled-coil 2A ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106
G PSORS1C1 psoriasis susceptibility 1 candidate 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106
G PSORS1C2 psoriasis susceptibility 1 candidate 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:41,336,262...41,339,413
Ensembl chr17:41,337,779...41,338,992 		JBrowse link
G RADIL Rap associating with DIL domain ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr28:16,765,646...16,846,934
Ensembl chr28:16,771,061...16,846,664 		JBrowse link
G RANBP1 RAN binding protein 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:5,611,968...5,622,414
Ensembl chr19:5,612,268...5,622,191 		JBrowse link
G RBAK RB associated KRAB zinc finger ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr28:16,594,449...16,648,577 JBrowse link
G RET ret proto-oncogene ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:25741868 NCBI chr 9:38,746,088...38,798,773
Ensembl chr 9:38,769,170...38,796,712 		JBrowse link
G RNF39 ring finger protein 39 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:42,423,486...42,429,631
Ensembl chr17:42,424,126...42,428,787 		JBrowse link
G RPP21 ribonuclease P/MRP subunit p21 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:42,139,103...42,140,986
Ensembl chr17:42,139,150...42,140,806 		JBrowse link
G RTL10 retrotransposon Gag like 10 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:5,890,989...5,895,243 JBrowse link
G RTN4R reticulon 4 receptor ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:5,469,854...5,497,858 JBrowse link
G RXFP1 relaxin family peptide receptor 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 7:105,078,422...105,203,929
Ensembl chr 7:105,122,424...105,202,589 		JBrowse link
G SCARF2 scavenger receptor class F member 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:5,265,730...5,282,092
Ensembl chr19:5,268,630...5,282,092 		JBrowse link
G SDK1 sidekick cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr28:17,354,106...18,316,238
Ensembl chr28:17,351,241...17,998,205 		JBrowse link
G SERPIND1 serpin family D member 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:4,709,896...4,724,620
Ensembl chr19:4,715,806...4,726,111 		JBrowse link
G SFTA2 surfactant associated 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:41,532,014...41,532,998 JBrowse link
G SGMS1 sphingomyelin synthase 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 9:80,524,115...80,646,332
Ensembl chr 9:80,524,055...80,562,945 		JBrowse link
G SLC18A3 solute carrier family 18 member A3 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 9:42,216,187...42,219,665
Ensembl chr 9:42,216,568...42,218,166 		JBrowse link
G SLC25A1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:6,569,627...6,572,872 JBrowse link
G SLC25A13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr21:52,728,251...52,929,685
Ensembl chr21:52,729,558...52,930,021 		JBrowse link
G SLC29A4 solute carrier family 29 member 4 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr28:16,429,879...16,450,580
Ensembl chr28:16,429,413...16,450,324 		JBrowse link
G SLC6A6 solute carrier family 6 member 6 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr22:50,344,781...50,431,765
Ensembl chr22:50,344,805...50,431,766 		JBrowse link
G SLC7A4 solute carrier family 7 member 4 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:4,970,147...4,973,603
Ensembl chr19:4,970,483...4,973,230 		JBrowse link
G SLC8A1 solute carrier family 8 member A1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr14:66,813,523...67,210,261 JBrowse link
G SNAP29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:4,797,690...4,827,573
Ensembl chr19:4,797,725...4,830,251 		JBrowse link
G SWT1 SWT1 RNA endoribonuclease homolog ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr25:44,109,306...44,232,238
Ensembl chr25:44,109,276...44,229,632 		JBrowse link
G TANGO2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:5,672,758...5,717,574
Ensembl chr19:5,672,180...5,701,361 		JBrowse link
G TBX1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:5,980,114...5,986,313
Ensembl chr19:5,980,587...5,987,244 		JBrowse link
G TBX2 T-box transcription factor 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr16:32,627,296...32,636,797
Ensembl chr16:32,627,819...32,636,880 		JBrowse link
G TBX4 T-box transcription factor 4 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr16:32,677,878...32,715,169
Ensembl chr16:32,683,921...32,711,674 		JBrowse link
G TCF19 transcription factor 19 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:41,310,999...41,319,268
Ensembl chr17:41,311,005...41,319,042 		JBrowse link
G THAP7 THAP domain containing 7 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:4,935,872...4,938,181
Ensembl chr19:4,935,976...4,938,152 		JBrowse link
G TMEM132C transmembrane protein 132C ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:123,657,734...124,087,650 JBrowse link
G TMEM273 transmembrane protein 273 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 9:42,613,812...42,648,872 JBrowse link
G TMX3 thioredoxin related transmembrane protein 3 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr18:11,019,907...11,059,284
Ensembl chr18:11,020,037...11,059,414 		JBrowse link
G TNF tumor necrosis factor ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106
G TNRC18 trinucleotide repeat containing 18 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr28:16,309,600...16,427,315
Ensembl chr28:16,311,716...16,427,565 		JBrowse link
G TRIM10 tripartite motif containing 10 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:42,345,957...42,355,537
Ensembl chr17:42,346,657...42,353,512 		JBrowse link
G TRIM15 tripartite motif containing 15 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:42,334,910...42,345,895 JBrowse link
G TRIM26 tripartite motif containing 26 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:42,284,454...42,312,150
Ensembl chr17:42,283,713...42,313,292 		JBrowse link
G TRIM27 tripartite motif containing 27 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:43,647,965...43,670,945
Ensembl chr17:43,647,951...43,670,978 		JBrowse link
G TRIM40 tripartite motif containing 40 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:42,358,748...42,370,400 JBrowse link
G TRMT1L tRNA methyltransferase 1 like ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr25:44,232,374...44,272,610
Ensembl chr25:44,232,433...44,272,616 		JBrowse link
G TRMT2A tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:5,622,542...5,627,923
Ensembl chr19:5,622,630...5,627,257 		JBrowse link
G TSSK2 testis specific serine kinase 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:6,617,030...6,618,932
Ensembl chr19:6,617,256...6,618,344 		JBrowse link
G TUBB tubulin beta class I ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:41,728,103...41,733,206
Ensembl chr17:41,729,143...41,733,243 		JBrowse link
G TXNRD2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:5,803,178...5,868,224
Ensembl chr19:5,813,099...5,866,674 		JBrowse link
G UBD ubiquitin D ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:43,061,243...43,065,135
Ensembl chr17:43,061,826...43,064,869 		JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:6,275,834...6,305,940
Ensembl chr19:6,275,844...6,308,035 		JBrowse link
G USP32 ubiquitin specific peptidase 32 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr16:31,395,349...31,619,758 JBrowse link
G VARS2 valyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:41,537,842...41,550,063
Ensembl chr17:41,534,552...41,549,439 		JBrowse link
G VSTM4 V-set and transmembrane domain containing 4 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 9:42,683,887...42,825,924
Ensembl chr 9:42,683,950...42,779,480 		JBrowse link
G WDFY4 WDFY family member 4 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 9:42,814,606...43,111,161 JBrowse link
G WIPI2 WD repeat domain, phosphoinositide interacting 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr28:16,504,557...16,558,670
Ensembl chr28:16,502,435...16,558,650 		JBrowse link
G ZBED9 zinc finger BED-type containing 9 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:43,975,083...43,991,082 JBrowse link
G ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:5,591,311...5,607,448
Ensembl chr19:5,589,090...5,607,387 		JBrowse link
G ZFP57 ZFP57 zinc finger protein ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:42,942,002...42,947,064 JBrowse link
G ZKSCAN3 zinc finger with KRAB and SCAN domains 3 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:44,199,513...44,216,456
Ensembl chr17:44,200,164...44,216,706 		JBrowse link
G ZKSCAN4 zinc finger with KRAB and SCAN domains 4 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:44,329,910...44,338,737 JBrowse link
G ZNF165 zinc finger protein 165 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:44,503,393...44,512,628
Ensembl chr17:44,503,379...44,512,637 		JBrowse link
G ZNF311 zinc finger protein 311 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:43,578,425...43,588,881 JBrowse link
G ZNF74 zinc finger protein 74 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr19:5,302,966...5,318,084 JBrowse link
G ZSCAN12 zinc finger and SCAN domain containing 12 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:44,167,464...44,238,723 JBrowse link
G ZSCAN16 zinc finger and SCAN domain containing 16 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:44,464,628...44,470,366
Ensembl chr17:44,464,761...44,469,173 		JBrowse link
G ZSCAN23 zinc finger and SCAN domain containing 23 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:44,119,840...44,144,330
Ensembl chr17:44,120,081...44,129,270 		JBrowse link
G ZSCAN26 zinc finger and SCAN domain containing 26 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:44,289,206...44,299,823 JBrowse link
G ZSCAN31 zinc finger and SCAN domain containing 31 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106
G ZSCAN9 zinc finger and SCAN domain containing 9 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:44,349,537...44,358,697 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 chr12:44,941,951...44,944,935
Ensembl chr12:44,939,377...44,944,842 		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 chr20:130,143,085...130,157,716
Ensembl chr20:130,143,520...130,157,730 		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 chr20:128,660,029...128,665,485
Ensembl chr20:128,660,121...128,661,254 		JBrowse link
G AGRN agrin ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr20:130,383,226...130,416,926
Ensembl chr20:130,383,220...130,416,933 		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 chr20:130,036,072...130,042,036
Ensembl chr20:130,036,658...130,038,604 		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 chr20:128,204,517...128,229,866 JBrowse link
G ATAD3A ATPase family AAA domain containing 3A ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr20:129,965,964...129,987,866 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 chr20:130,074,660...130,076,355
Ensembl chr20:130,075,295...130,076,765 		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 chr20:130,210,828...130,212,732
Ensembl chr20:130,211,718...130,212,707 		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 chr20:130,195,746...130,204,338
Ensembl chr20:130,198,005...130,202,441 		JBrowse link
G CALML6 calmodulin like 6 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316
G CCDC27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr20:127,905,251...127,927,086
Ensembl chr20:127,905,375...127,926,913 		JBrowse link
G CEP104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr20:127,823,789...127,866,172
Ensembl chr20:127,828,995...127,865,544 		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 chr20:129,555,060...129,626,465 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 chr20:130,124,705...130,128,745
Ensembl chr20:130,125,790...130,126,711 		JBrowse link
G CUNH1orf159 chromosome unknown C1orf159 homolog ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr20:130,325,767...130,357,331 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 chr20:130,105,032...130,118,978
Ensembl chr20:130,104,639...130,117,139 		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 chr20:129,357,043...129,373,409
Ensembl chr20:129,357,089...129,362,518 		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
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 chr20:129,530,049...129,541,437
Ensembl chr20:129,529,108...129,541,580 		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 chr20:129,654,890...129,765,765
Ensembl chr20:129,707,085...129,766,667 		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 chr20:129,023,750...129,028,790
Ensembl chr20:129,027,370...129,028,065 		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 chr20:130,128,828...130,139,580
Ensembl chr20:130,128,828...130,142,330 		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 chr 9:62,305,387...62,336,165
Ensembl chr 9:62,305,368...62,336,103 		JBrowse link
G LOC103225737 multiple epidermal growth factor-like domains protein 6 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr20:128,075,329...128,195,618 JBrowse link
G LOC103225750 membrane metallo-endopeptidase-like 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr20:128,916,051...128,963,545
Ensembl chr20:128,921,369...128,963,188 		JBrowse link
G LOC103225783 cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr20:129,848,297...129,873,287 JBrowse link
G LOC103225792 ATPase family AAA domain containing 3C ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr20:129,997,941...130,008,356 JBrowse link
G LOC103225798 cyclin-L2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr20:130,049,590...130,065,241
Ensembl chr20:130,049,646...130,065,881 		JBrowse link
G LOC103225805 taste receptor type 1 member 3 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr20:130,119,451...130,122,920
Ensembl chr20:130,119,804...130,122,903 		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 chr20:127,881,446...127,896,138
Ensembl chr20:127,881,473...127,895,959 		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 chr20:129,878,014...129,893,239
Ensembl chr20:129,877,142...129,884,894 		JBrowse link
G MMP23B matrix metallopeptidase 23B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr20:129,873,838...129,876,521
Ensembl chr20:129,873,867...129,876,524 		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 chr20:129,163,876...129,231,520
Ensembl chr20:129,169,893...129,231,604 		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 chr20:130,042,502...130,047,019 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 chr20:130,092,280...130,102,819
Ensembl chr20:130,096,289...130,104,551 		JBrowse link
G NADK NAD kinase ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr20:129,770,575...129,800,914
Ensembl chr20:129,769,822...129,803,817 		JBrowse link
G NEK9 NIMA related kinase 9 ISO ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome ClinVar PMID:25741868 NCBI chr24:52,297,211...52,342,359
Ensembl chr24:52,296,261...52,342,724 		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 chr20:129,030,853...129,050,944
Ensembl chr20:129,030,904...129,050,636 		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 chr20:129,145,587...129,155,687
Ensembl chr20:129,145,638...129,153,968 		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 chr20:129,053,571...129,127,238 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 chr20:128,249,894...128,613,842 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 chr20:129,367,309...129,502,681
Ensembl chr20:129,365,679...129,485,818 		JBrowse link
G PRXL2B peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr20:128,964,750...128,969,469
Ensembl chr20:128,964,987...128,967,620 		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 chr20:130,139,479...130,142,819
Ensembl chr20:130,139,480...130,142,342 		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 chr20:129,155,902...129,169,648
Ensembl chr20:129,156,067...129,169,597 		JBrowse link
G RNF223 ring finger protein 223 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr20:130,359,448...130,365,430
Ensembl chr20:130,364,349...130,365,098 		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 chr20:130,158,282...130,169,479 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 chr20:130,212,962...130,228,831
Ensembl chr20:130,216,225...130,228,962 		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 chr20:129,243,033...129,324,162
Ensembl chr20:129,242,445...129,324,138 		JBrowse link
G SLC35E2B solute carrier family 35 member E2B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr20:129,808,281...129,843,006
Ensembl chr20:129,824,956...129,846,114 		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 chr20:127,900,506...127,904,242
Ensembl chr20:127,900,976...127,903,371 		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 chr20:129,922,992...129,958,551
Ensembl chr20:129,923,091...129,958,712 		JBrowse link
G TMEM240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr20:129,959,081...129,965,352
Ensembl chr20:129,959,462...129,965,375 		JBrowse link
G TMEM52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316
G TMEM88B transmembrane protein 88B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr20:130,028,526...130,031,739
Ensembl chr20:130,026,134...130,030,985 		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 chr20:128,992,572...128,999,829
Ensembl chr20:128,992,489...129,000,338 		JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr20:130,237,950...130,243,303
Ensembl chr20:130,225,847...130,242,251 		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 chr20:130,231,064...130,234,525
Ensembl chr20:130,231,584...130,234,313 		JBrowse link
G TP73 tumor protein p73 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr20:127,958,002...128,035,792
Ensembl chr20:127,958,809...128,013,691 		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 chr20:128,057,629...128,062,545
Ensembl chr20:128,059,137...128,062,455 		JBrowse link
G TTLL10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr20:130,247,309...130,270,452 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 chr20:130,174,207...130,192,723
Ensembl chr20:130,174,223...130,195,150 		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 chr20:130,016,802...130,023,138
Ensembl chr20:130,014,754...130,021,822 		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 chr20:128,037,727...128,056,981
Ensembl chr20:128,037,821...128,056,770 		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 chr 5:3,415,548...3,570,030
Ensembl chr 5:3,415,412...3,540,943 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More... NCBI chr20:35,376,738...36,215,388
Ensembl chr20:35,377,266...36,215,679 		JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:25741868 PMID:26559152 PMID:28492532 NCBI chr26:34,637,916...34,877,499
Ensembl chr26:34,638,838...34,879,217 		JBrowse link
G LRBA LPS responsive beige-like anchor protein ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:96,714,031...97,606,153 JBrowse link
G NOTCH2 notch receptor 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr20:13,712,140...13,871,777
Ensembl chr20:13,712,292...13,871,784 		JBrowse link
G NRP2 neuropilin 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:25741868 NCBI chr10:91,460,179...91,575,408
Ensembl chr10:91,460,373...91,557,430 		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 chr19:20,654,464...20,668,267
Ensembl chr19:20,654,239...20,669,872 		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 chr 9:38,746,088...38,798,773
Ensembl chr 9:38,769,170...38,796,712 		JBrowse link
G SEMA3D semaphorin 3D ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr21:63,794,289...63,923,280
Ensembl chr21:63,794,281...63,919,352 		JBrowse link
G SOX10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:24357527 NCBI chr19:20,673,053...20,685,506 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 chr25:11,163,651...11,259,868
Ensembl chr25:11,163,100...11,258,470 		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 chr 5:1,946,534...1,985,168
Ensembl chr 5:1,946,927...1,987,682 		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 chr27:8,602,764...8,608,052
Ensembl chr27:8,603,484...8,606,299 		JBrowse link
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ECE1 endothelin converting enzyme 1 ISO ClinVar Annotator: match by term: 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 chr20:111,212,567...111,342,755
Ensembl chr20:111,212,594...111,342,821 		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 chr28:12,328,304...12,335,302
Ensembl chr28:12,331,039...12,335,076 		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 chr11:19,288,551...19,401,925
Ensembl chr11:19,288,493...19,374,301 		JBrowse link
G AHNAK AHNAK nucleoprotein ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:11,352,848...11,384,944 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 chr16:55,874,043...55,906,739
Ensembl chr16:55,874,072...55,907,281 		JBrowse link
G BMI1 BMI1 proto-oncogene, polycomb ring finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:29429387 NCBI chr 9:22,095,592...22,104,894 JBrowse link
G CAVIN2 caveolae associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25792468 NCBI chr10:77,371,220...77,384,574 JBrowse link
G CCR9 C-C motif chemokine receptor 9 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr22:7,354,139...7,375,280
Ensembl chr22:7,354,489...7,377,676 		JBrowse link
G CD14 CD14 molecule ISO protein:increased expression:intestine: RGD PMID:15117676 RGD:7193054 NCBI chr23:43,264,917...43,266,825
Ensembl chr23:43,264,336...43,266,993 		JBrowse link
G CLUH clustered mitochondria homolog ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr16:2,300,052...2,322,711
Ensembl chr16:2,299,725...2,319,020 		JBrowse link
G CNTN5 contactin 5 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 1:90,912,614...91,742,510
Ensembl chr 1:91,195,724...91,739,825 		JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:3,415,548...3,570,030
Ensembl chr 5:3,415,412...3,540,943 		JBrowse link
G CSMD3 CUB and Sushi multiple domains 3 ISO ClinVar Annotator: match by term: CSMD3-associated Hirschsprung disease ClinVar NCBI chr 8:106,913,123...108,143,655
Ensembl chr 8:106,914,976...107,393,443 		JBrowse link
G DENND3 DENN domain containing 3 ISO ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 8:135,367,847...135,437,434
Ensembl chr 8:135,368,076...135,437,559 		JBrowse link
G DEPDC1 DEP domain containing 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr20:64,615,693...64,639,088
Ensembl chr20:64,615,866...64,636,294 		JBrowse link
G DPPA5 developmental pluripotency associated 5 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr17:1,793,216...1,794,598
Ensembl chr17:1,793,502...1,794,387 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More... NCBI chr20:35,376,738...36,215,388
Ensembl chr20:35,377,266...36,215,679 		JBrowse link
G DSCAM DS cell adhesion molecule ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 2:83,969,555...84,738,661 JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:94,484,090...94,849,960
Ensembl chr 1:94,484,512...94,849,581 		JBrowse link
G ECE1 endothelin converting enzyme 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr20:111,212,567...111,342,755
Ensembl chr20:111,212,594...111,342,821 		JBrowse link
G EDN3 endothelin 3 ISO ClinVar Annotator: match by term: Aganglionic megacolon | 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 chr 2:4,814,447...4,839,950
Ensembl chr 2:4,814,140...4,839,626 		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, 2 RGD
OMIM
ClinVar		 PMID:8001158 PMID:8852658 PMID:8852659 PMID:8852660 PMID:9739043 More... RGD:628516 NCBI chr 3:56,969,493...56,993,719
Ensembl chr 3:56,969,101...56,992,731 		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 chr16:66,435,488...66,464,993
Ensembl chr16:66,434,251...66,464,952 		JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr25:59,465,610...59,539,022
Ensembl chr25:59,466,378...59,538,872 		JBrowse link
G FAT3 FAT atypical cadherin 3 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 1:83,471,266...84,159,858
Ensembl chr 1:83,609,116...84,158,537 		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 chr26:34,637,916...34,877,499
Ensembl chr26:34,638,838...34,879,217 		JBrowse link
G FMN2 formin 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr25:77,187,572...77,585,773 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 chr 4:36,662,033...36,691,761
Ensembl chr 4:36,665,009...36,684,257 		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 chr 9:108,869,444...109,088,803
Ensembl chr 9:108,876,855...109,087,488 		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 chr21:16,386,700...16,665,648
Ensembl chr21:16,549,789...16,662,238 		JBrowse link
G HDAC8 histone deacetylase 8 ISO protein:decreased expression:colon (human) RGD PMID:16771768 RGD:13208819 NCBI chr  X:62,154,374...62,393,149
Ensembl chr  X:62,154,365...62,393,196 		JBrowse link
G IHH Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr10:104,960,296...104,966,596
Ensembl chr10:104,960,120...104,966,585 		JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 8:40,267,532...40,325,282
Ensembl chr 8:40,268,079...40,326,381 		JBrowse link
G IQCF5 IQ motif containing F5 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr22:13,243,667...13,266,144
Ensembl chr22:13,243,679...13,244,122 		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 chr11:61,868,817...61,920,896
Ensembl chr11:61,869,173...61,920,406 		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 chr 9:32,201,030...32,258,247
Ensembl chr 9:32,202,204...32,258,154 		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 chr 7:13,435,059...13,482,236
Ensembl chr 7:13,435,096...13,482,771 		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 chr 7:13,808,104...13,891,003
Ensembl chr 7:13,808,037...13,890,976 		JBrowse link
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:28492532 NCBI chr  X:128,285,128...128,309,173
Ensembl chr  X:128,285,130...128,299,570 		JBrowse link
G LOC103215982 chromosome 9 C10orf55 homolog ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:57,458,340...57,458,820 JBrowse link
G LOC103219825 protein patched homolog 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 chr12:107,580,895...107,656,443
Ensembl chr12:107,590,663...107,652,985 		JBrowse link
G LOC103224275 glutathione S-transferase Mu 1 susceptibility ISO DNA:missense mutation:cds:p.K173N (human) (rs1065411) RGD PMID:20661602 RGD:12792222 NCBI chr20:23,854,969...23,861,634 JBrowse link
G LOC103246654 NADPH--cytochrome P450 reductase ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr28:10,145,070...10,230,836
Ensembl chr28:10,197,503...10,230,468 		JBrowse link
G LRBA LPS responsive beige-like anchor protein ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:96,714,031...97,606,153 JBrowse link
G LZTFL1 leucine zipper transcription factor like 1 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr22:7,292,390...7,310,355
Ensembl chr22:7,294,733...7,307,687 		JBrowse link
G MAN2A2 mannosidase alpha class 2A member 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr29:8,942,126...8,960,745
Ensembl chr29:8,939,836...8,961,162 		JBrowse link
G MED15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr19:5,111,512...5,195,677
Ensembl chr19:5,112,435...5,167,139 		JBrowse link
G MGAM2 maltase-glucoamylase 2 (putative) ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr21:110,843,718...110,951,341 JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:25741868 NCBI chr 1:17,964,581...17,986,351
Ensembl chr 1:17,963,706...17,985,758 		JBrowse link
G NAV2 neuron navigator 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 1:44,887,172...45,648,260
Ensembl chr 1:44,887,169...45,214,703 		JBrowse link
G NCLN nicalin ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 6:2,948,723...2,975,465
Ensembl chr 6:2,948,212...2,975,596 		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 chr16:69,894,000...69,914,209
Ensembl chr16:69,894,139...69,912,189 		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 chr20:13,712,140...13,871,777
Ensembl chr20:13,712,292...13,871,784 		JBrowse link
G NOTCH4 notch receptor 4 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr17:39,806,864...39,837,101
Ensembl chr17:39,808,035...39,837,365 		JBrowse link
G NRG1 neuregulin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22974608 NCBI chr 8:29,745,984...30,862,140
Ensembl chr 8:30,635,803...30,856,487 		JBrowse link
G NRG3 neuregulin 3 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:48,846,287...49,957,238 JBrowse link
G NRP2 neuropilin 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr10:91,460,179...91,575,408
Ensembl chr10:91,460,373...91,557,430 		JBrowse link
G NRTN neurturin ISO RGD PMID:9700200 RGD:1600267 NCBI chr 6:5,444,514...5,458,769
Ensembl chr 6:5,444,878...5,458,617 		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 chr11:5,477,208...5,542,404 JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO protein:altered expression:intestine RGD PMID:8943115 RGD:5684546 NCBI chr20:6,987,903...7,027,381
Ensembl chr20:6,987,905...7,008,670 		JBrowse link
G NUP98 nucleoporin 98 and 96 precursor ISO ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 1:62,924,514...63,050,060
Ensembl chr 1:62,925,050...63,050,111 		JBrowse link
G OAS3 2'-5'-oligoadenylate synthetase 3 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr11:108,192,595...108,210,332
Ensembl chr11:108,192,509...108,213,333 		JBrowse link
G PACS1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:28492532 NCBI chr 1:8,023,496...8,188,192
Ensembl chr 1:8,022,906...8,188,171 		JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 9:75,642,985...77,415,370
Ensembl chr 9:76,726,627...77,398,716 		JBrowse link
G PGRMC2 progesterone receptor membrane component 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 7:75,400,906...75,420,564
Ensembl chr 7:75,399,830...75,419,604 		JBrowse link
G PHAX phosphorylated adaptor for RNA export ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr23:29,594,021...29,618,189
Ensembl chr23:29,594,165...29,619,830 		JBrowse link
G PHOX2B paired like homeobox 2B ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr27:8,602,764...8,608,052
Ensembl chr27:8,603,484...8,606,299 		JBrowse link
G PHRF1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 1:391,692...429,982
Ensembl chr 1:397,520...429,668 		JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:25741868 NCBI chr12:45,521,468...45,529,936
Ensembl chr12:45,521,976...45,533,729 		JBrowse link
G PLAU plasminogen activator, urokinase ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:57,452,904...57,459,345
Ensembl chr 9:57,452,761...57,459,286 		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 chr19:20,654,464...20,668,267
Ensembl chr19:20,654,239...20,669,872 		JBrowse link
G PROKR1 prokineticin receptor 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr14:38,462,668...38,474,901 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: 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: 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 chr 9:38,746,088...38,798,773
Ensembl chr 9:38,769,170...38,796,712 		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 chr21:63,794,289...63,923,280
Ensembl chr21:63,794,281...63,919,352 		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 chr16:1,408,453...1,424,197 JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:20972907 RGD:12801434 NCBI chr21:123,929,937...123,942,451
Ensembl chr21:123,932,900...123,942,395 		JBrowse link
G SLC22A1 solute carrier family 22 member 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr13:87,744,600...87,780,846
Ensembl chr13:87,745,023...87,781,073 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO RGD PMID:10975929 RGD:12879497 NCBI chr20:89,974,567...90,007,977
Ensembl chr20:90,002,030...90,008,033 		JBrowse link
G SNF8 SNF8 subunit of ESCRT-II ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr16:69,343,260...69,357,843
Ensembl chr16:69,339,804...69,357,860 		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 chr19:20,673,053...20,685,506 JBrowse link
G STX1A syntaxin 1A ISO RGD PMID:11345516 RGD:1581432 NCBI chr28:9,347,495...9,367,948
Ensembl chr28:9,347,532...9,368,585 		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 chr 9:60,517,110...60,531,509 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 chr25:11,163,651...11,259,868
Ensembl chr25:11,163,100...11,258,470 		JBrowse link
G THBS4 thrombospondin 4 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 4:74,195,487...74,275,723
Ensembl chr 4:74,234,261...74,275,775 		JBrowse link
G TMEM165 transmembrane protein 165 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 7:13,136,414...13,167,521
Ensembl chr 7:13,135,845...13,167,499 		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 chr 5:1,946,534...1,985,168
Ensembl chr 5:1,946,927...1,987,682 		JBrowse link
G UTP25 UTP25 small subunit processome component ISO CTD Direct Evidence: marker/mechanism CTD PMID:25007945 NCBI chr25:19,601,165...19,625,274
Ensembl chr25:19,600,266...19,625,229 		JBrowse link
G VCL vinculin ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:57,253,219...57,375,947
Ensembl chr 9:57,255,166...57,376,028 		JBrowse link
G WNT8B Wnt family member 8B ISO RGD PMID:20972907 RGD:12801434 NCBI chr 9:93,478,569...93,504,279
Ensembl chr 9:93,479,392...93,501,835 		JBrowse link
G YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr16:1,031,840...1,086,950
Ensembl chr16:1,035,250...1,087,013 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr10:29,732,934...29,864,157
Ensembl chr10:29,729,305...29,864,205 		JBrowse link
G ZHX2 zinc fingers and homeoboxes 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 8:117,360,134...117,550,818
Ensembl chr 8:117,531,654...117,534,167 		JBrowse link
G ZNF592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr29:3,554,095...3,611,845
Ensembl chr29:3,553,618...3,611,834 		JBrowse link
Mowat-Wilson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADNP activity dependent neuroprotector homeobox ISO ClinVar Annotator: match by term: Hirschsprung disease mental retardation syndrome ClinVar PMID:25741868 NCBI chr 2:13,037,446...13,080,287
Ensembl chr 2:13,039,866...13,081,161 		JBrowse link
G ARHGAP15 Rho GTPase activating protein 15 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr10:28,493,123...29,123,849
Ensembl chr10:28,519,775...29,124,579 		JBrowse link
G GTDC1 glycosyltransferase like domain containing 1 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar PMID:12920073 NCBI chr10:29,275,462...29,674,966
Ensembl chr10:29,293,207...29,548,585 		JBrowse link
G HNMT histamine N-methyltransferase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr10:22,188,151...22,238,665
Ensembl chr10:22,188,110...22,238,671 		JBrowse link
G KYNU kynureninase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr10:28,230,129...28,394,103
Ensembl chr10:28,230,508...28,394,076 		JBrowse link
G LRP1B LDL receptor related protein 1B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr10:25,611,400...27,511,903
Ensembl chr10:25,616,590...26,609,111 		JBrowse link
G NXPH2 neurexophilin 2 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr10:24,032,797...24,145,279
Ensembl chr10:24,032,902...24,145,130 		JBrowse link
G SPOPL speckle type BTB/POZ protein like ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr10:23,868,104...23,934,157 JBrowse link
G THSD7B thrombospondin type 1 domain containing 7B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr10:20,967,111...21,863,386 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 chr10:29,732,934...29,864,157
Ensembl chr10:29,729,305...29,864,205 		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 chr20:2,662,163...2,668,393
Ensembl chr20:2,665,737...2,668,393 		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 chr19:20,654,464...20,668,267
Ensembl chr19:20,654,239...20,669,872 		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 chr19:20,673,053...20,685,506 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 chr 3:56,969,493...56,993,719
Ensembl chr 3:56,969,101...56,992,731 		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 2:4,814,447...4,839,950
Ensembl chr 2:4,814,140...4,839,626 		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 chr 3:56,969,493...56,993,719
Ensembl chr 3:56,969,101...56,992,731 		JBrowse link
G SOX10 SRY-box transcription factor 10 ISO DNA:missense mutations,insertion,deletion:cds: RGD PMID:9462749 RGD:12832744 NCBI chr19:20,673,053...20,685,506 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 chr 3:56,969,493...56,993,719
Ensembl chr 3:56,969,101...56,992,731 		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 chr19:20,654,464...20,668,267
Ensembl chr19:20,654,239...20,669,872 		JBrowse link
G SOX10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4A ClinVar PMID:25741868 NCBI chr19:20,673,053...20,685,506 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 chr 2:4,814,447...4,839,950
Ensembl chr 2:4,814,140...4,839,626 		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 chr19:20,654,464...20,668,267
Ensembl chr19:20,654,239...20,669,872 		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 chr19:20,673,053...20,685,506 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15416
    disease of anatomical entity 15079
      gastrointestinal system disease 6460
        intestinal disease 2884
          colonic disease 2164
            megacolon 376
              Hirschsprung's disease + 167
              toxic megacolon 0
paths to the root