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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.


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 A2m alpha-2-macroglobulin ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786 		JBrowse link
G Abcf1 ATP binding cassette subfamily F member 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:2,802,519...2,815,433
Ensembl chr20:2,802,488...2,815,433 		JBrowse link
G Abhd16a abhydrolase domain containing 16A, phospholipase ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:3,719,089...3,733,952
Ensembl chr20:3,719,091...3,733,927 		JBrowse link
G Ahnak AHNAK nucleoprotein ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 1:205,882,225...205,970,934
Ensembl chr 1:205,882,273...205,970,926 		JBrowse link
G Aif1 allograft inflammatory factor 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668 		JBrowse link
G Aifm3 apoptosis inducing factor, mitochondria associated 3 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:83,504,859...83,523,630
Ensembl chr11:83,504,861...83,521,248 		JBrowse link
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708 		JBrowse link
G Ap5z1 adaptor related protein complex 5 subunit zeta 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr12:12,093,834...12,109,043
Ensembl chr12:12,093,834...12,108,511 		JBrowse link
G Apom apolipoprotein M ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:3,690,950...3,693,550
Ensembl chr20:3,688,413...3,693,550 		JBrowse link
G Appbp2 amyloid beta precursor protein binding protein 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:70,057,774...70,099,877
Ensembl chr10:70,057,774...70,099,835 		JBrowse link
G Arhgap22 Rho GTPase activating protein 22 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr16:8,473,806...8,631,552
Ensembl chr16:8,476,306...8,631,548 		JBrowse link
G Arvcf ARVCF, delta catenin family member ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805 		JBrowse link
G Asah2 N-acylsphingosine amidohydrolase 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 1:229,865,662...229,973,253
Ensembl chr 1:229,865,662...229,939,162 		JBrowse link
G Atat1 alpha tubulin acetyltransferase 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:2,844,595...2,857,809
Ensembl chr20:2,844,616...2,861,964 		JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889 		JBrowse link
G Atp6v1c2 ATPase H+ transporting V1 subunit C2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:40,080,545...40,144,199
Ensembl chr 6:40,080,547...40,120,028 		JBrowse link
G Atp6v1g2 ATPase H+ transporting V1 subunit G2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:3,587,681...3,591,309
Ensembl chr20:3,587,686...3,590,481 		JBrowse link
G Bag6 BAG cochaperone 6 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:3,675,938...3,690,414
Ensembl chr20:3,675,938...3,688,657 		JBrowse link
G Bcas3 BCAS3, microtubule associated cell migration factor ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:70,213,710...70,673,080
Ensembl chr10:70,214,098...70,673,080 		JBrowse link
G Brip1 BRCA1 interacting helicase 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324 		JBrowse link
G C11h22orf39 similar to human chromosome 22 open reading frame 39 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235 		JBrowse link
G C16h10orf53 similar to human chromosome 10 open reading frame 53 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr16:7,634,207...7,644,876
Ensembl chr16:7,634,207...7,644,876 		JBrowse link
G C16h10orf71 similar to human chromosome 10 open reading frame 71 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr16:7,910,597...7,961,900
Ensembl chr16:7,910,433...7,961,958 		JBrowse link
G C20h6orf136 similar to human chromosome 6 open reading frame 136 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:2,857,840...2,861,952 JBrowse link
G C20h6orf15 similar to human chromosome 6 open reading frame 15 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:3,172,330...3,173,886
Ensembl chr20:3,172,330...3,173,886 		JBrowse link
G C2cd4b C2 calcium-dependent domain containing 4B ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 8:68,372,793...68,396,477
Ensembl chr 8:68,384,847...68,396,328 		JBrowse link
G C2h4orf46 similar to human chromosome 4 open reading frame 46 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 2:164,762,994...164,766,126
Ensembl chr 2:164,762,960...164,766,128 		JBrowse link
G C5h1orf174 similar to human chromosome 1 open reading frame 174 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 5:164,515,578...164,520,022
Ensembl chr 5:164,515,559...164,520,021 		JBrowse link
G Car4 carbonic anhydrase 4 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:69,827,945...69,836,501
Ensembl chr10:69,827,945...69,836,501 		JBrowse link
G Cchcr1 coiled-coil alpha-helical rod protein 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:3,205,675...3,218,437
Ensembl chr20:3,205,676...3,218,308 		JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619 		JBrowse link
G Cdh17 cadherin 17 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 5:25,262,820...25,314,884
Ensembl chr 5:25,262,758...25,314,884 		JBrowse link
G Cdsn corneodesmosin ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:3,179,432...3,184,252
Ensembl chr20:3,179,438...3,184,250 		JBrowse link
G Cep83 centrosomal protein 83 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 7:29,280,358...29,389,574
Ensembl chr 7:29,280,419...29,389,574 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093 		JBrowse link
G Chct1 CHD1 helical C-terminal domain containing 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:70,039,510...70,051,556
Ensembl chr10:70,039,680...70,051,542 		JBrowse link
G Cldn18 claudin 18 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 8:100,246,499...100,265,797
Ensembl chr 8:100,247,633...100,273,351 		JBrowse link
G Cldn5 claudin 5 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:82,212,822...82,214,248
Ensembl chr11:82,211,475...82,214,992 		JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr18:125,308...132,163
Ensembl chr18:125,227...132,160 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642 		JBrowse link
G Crisp2 cysteine-rich secretory protein 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 9:20,107,649...20,131,967
Ensembl chr 9:20,107,701...20,131,959 		JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:83,528,788...83,563,214
Ensembl chr11:83,526,530...83,563,238 		JBrowse link
G Csnk2b casein kinase 2 beta ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133 		JBrowse link
G Ctxnd1 cortexin domain containing 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 1:138,495,689...138,547,105
Ensembl chr 1:138,495,716...138,547,754 		JBrowse link
G Ddr1 discoidin domain receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468 		JBrowse link
G Ddx39b DExD-box helicase 39B ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:3,547,702...3,585,064
Ensembl chr20:3,572,056...3,584,996 		JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Dffb DNA fragmentation factor subunit beta ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 5:164,522,446...164,534,733
Ensembl chr 5:164,522,463...164,534,628 		JBrowse link
G Dgcr2 DiGeorge syndrome critical region gene 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:83,093,961...83,144,507
Ensembl chr11:83,094,037...83,144,502 		JBrowse link
G Dgcr6 DiGeorge syndrome critical region gene 6 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:82,927,725...82,932,823
Ensembl chr11:82,927,725...82,932,823 		JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:82,704,673...82,737,251
Ensembl chr11:82,704,729...82,737,242 		JBrowse link
G Dhx16 DEAH-box helicase 16 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:2,862,000...2,874,991
Ensembl chr20:2,862,000...2,874,948 		JBrowse link
G Dnah12 dynein, axonemal, heavy chain 12 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr16:1,936,354...2,092,663
Ensembl chr16:1,937,817...2,092,664 		JBrowse link
G Drgx dorsal root ganglia homeobox ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr16:7,854,849...7,884,404
Ensembl chr16:7,854,849...7,900,600 		JBrowse link
G Ednrb endothelin receptor type B IAGP RGD PMID:8570650 RGD:628515 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587 		JBrowse link
G Ess2 ess-2 splicing factor homolog ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:83,075,893...83,085,849
Ensembl chr11:83,075,925...83,084,846 		JBrowse link
G Etfdh electron transfer flavoprotein dehydrogenase ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 2:164,740,547...164,762,754
Ensembl chr 2:164,729,749...164,762,745 		JBrowse link
G Fam170b family with sequence similarity 170, member B ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr16:8,101,914...8,104,724
Ensembl chr16:8,101,914...8,104,705 		JBrowse link
G Fhit fragile histidine triad diadenosine triphosphatase ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr15:13,935,029...15,442,620
Ensembl chr15:13,934,995...15,442,340 		JBrowse link
G Flg filaggrin ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 2:178,884,793...178,912,986 JBrowse link
G Flot1 flotillin 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:2,917,864...2,927,993
Ensembl chr20:2,917,137...2,927,978 		JBrowse link
G Fn1 fibronectin 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678 		JBrowse link
G Foxk1 forkhead box K1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr12:12,110,119...12,175,089
Ensembl chr12:12,115,950...12,175,089 		JBrowse link
G Frmpd2 FERM and PDZ domain containing 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr16:8,757,642...8,877,307
Ensembl chr16:8,757,705...8,877,303 		JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345 		JBrowse link
G G4 G4 protein ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:3,693,691...3,696,194
Ensembl chr20:3,693,649...3,696,088 		JBrowse link
G Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:1,464,534...1,494,114
Ensembl chr20:1,464,534...1,493,994 		JBrowse link
G Galnt11 polypeptide N-acetylgalactosaminyltransferase 11 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 4:9,837,629...9,871,141
Ensembl chr 4:9,837,629...9,871,140 		JBrowse link
G Gem GTP binding protein overexpressed in skeletal muscle ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 5:25,214,309...25,225,222
Ensembl chr 5:25,214,309...25,225,222 		JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466 		JBrowse link
G Gnl1 G protein nucleolar 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:2,783,130...2,792,115
Ensembl chr20:2,778,985...2,792,115 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392 		JBrowse link
G Gpank1 G patch domain and ankyrin repeats 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:3,697,641...3,700,814
Ensembl chr20:3,697,641...3,700,858 		JBrowse link
G Gpx5 glutathione peroxidase 5 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:43,436,126...43,443,074
Ensembl chr17:43,416,340...43,443,074 		JBrowse link
G Gpx6 glutathione peroxidase 6 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:43,408,472...43,416,091
Ensembl chr17:43,408,472...43,416,091 		JBrowse link
G Gsc2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:83,070,784...83,075,874
Ensembl chr11:83,072,138...83,074,126 		JBrowse link
G Gtf2h4 general transcription factor 2H subunit 4 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:3,071,328...3,076,990
Ensembl chr20:3,071,328...3,076,984 		JBrowse link
G Heatr6 HEAT repeat containing 6 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:68,635,048...68,665,445
Ensembl chr10:68,635,065...68,664,105 		JBrowse link
G Hic2 HIC ZBTB transcriptional repressor 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:83,737,075...83,789,554
Ensembl chr11:83,738,874...83,767,484 		JBrowse link
G Hira histone cell cycle regulator ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529 		JBrowse link
G Ier3 immediate early response 3 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:2,928,378...2,929,582
Ensembl chr20:2,928,378...2,929,583 		JBrowse link
G Ino80d INO80 complex subunit D ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 9:64,447,075...64,514,013
Ensembl chr 9:64,457,165...64,515,242 		JBrowse link
G Ints2 integrator complex subunit 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:71,031,647...71,079,138
Ensembl chr10:71,031,647...71,079,076 		JBrowse link
G Klhl22 kelch-like family member 22 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:83,190,891...83,231,746
Ensembl chr11:83,190,891...83,231,770 		JBrowse link
G Klrg1 killer cell lectin like receptor G1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 4:155,455,465...155,467,301
Ensembl chr 4:155,455,495...155,467,424 		JBrowse link
G Kmt2c lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539 		JBrowse link
G L3mbtl4 L3MBTL histone methyl-lysine binding protein 4 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 9:108,295,004...108,747,879
Ensembl chr 9:108,329,669...108,747,774 		JBrowse link
G Lingo2 leucine rich repeat and Ig domain containing 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 5:50,370,744...51,687,252
Ensembl chr 5:50,367,101...50,516,956 		JBrowse link
G Lrrc18 leucine rich repeat containing 18 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr16:8,253,524...8,277,141
Ensembl chr16:8,254,352...8,277,437 		JBrowse link
G Lst1 leukocyte specific transcript 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:3,634,680...3,639,731
Ensembl chr20:3,634,749...3,637,997 		JBrowse link
G Lta lymphotoxin alpha ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859 		JBrowse link
G Ltb lymphotoxin beta ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:3,627,536...3,629,381
Ensembl chr20:3,627,537...3,629,381 		JBrowse link
G Ly6g5b lymphocyte antigen 6 family member G5B ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:3,705,464...3,707,830
Ensembl chr20:3,706,124...3,707,133 		JBrowse link
G Ly6g5c lymphocyte antigen 6 family member G5C ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:3,709,426...3,713,940
Ensembl chr20:3,709,529...3,713,608 		JBrowse link
G Ly6g6d lymphocyte antigen 6 family member G6D ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:3,741,973...3,752,378
Ensembl chr20:3,737,459...3,752,248 		JBrowse link
G Ly6g6f lymphocyte antigen 6 family member G6F ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:3,737,459...3,742,327
Ensembl chr20:3,737,459...3,752,248 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981 		JBrowse link
G Mas1l MAS1 proto-oncogene like, G protein-coupled receptor ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 1:47,871,592...47,879,942 JBrowse link
G Mdc1 mediator of DNA damage checkpoint 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:2,893,693...2,912,394
Ensembl chr20:2,895,505...2,910,240 		JBrowse link
G Med13 mediator complex subunit 13 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:71,086,978...71,176,535
Ensembl chr10:71,090,516...71,177,242 		JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:83,280,722...83,356,006
Ensembl chr11:83,280,762...83,355,362 		JBrowse link
G Micb MHC class I polypeptide-related sequence B ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 1:78,495,779...78,513,030
Ensembl chr 1:78,495,779...78,512,827 		JBrowse link
G Mill1 MHC I like leukocyte 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 1:78,372,798...78,398,932
Ensembl chr 1:78,372,802...78,398,930 		JBrowse link
G Mir877 microRNA 877 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:2,811,476...2,811,560
Ensembl chr20:2,811,476...2,811,560 		JBrowse link
G Mmd2 monocyte to macrophage differentiation-associated 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr12:11,962,733...12,009,776
Ensembl chr12:11,962,757...12,009,773 		JBrowse link
G Mog myelin oligodendrocyte glycoprotein ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:1,513,137...1,523,473
Ensembl chr20:1,513,239...1,523,474 		JBrowse link
G Morc1 MORC family CW-type zinc finger 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:52,178,769...52,384,255
Ensembl chr11:52,178,769...52,384,255 		JBrowse link
G Mrpl40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:82,133,398...82,139,234
Ensembl chr11:82,133,398...82,139,233 		JBrowse link
G Mrps18b mitochondrial ribosomal protein S18B ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:2,838,174...2,844,260
Ensembl chr20:2,838,030...2,844,260 		JBrowse link
G Msmb microseminoprotein, beta ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr16:7,366,536...7,387,124
Ensembl chr16:7,366,536...7,387,123 		JBrowse link
G Mtcp1 mature T-cell proliferation 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr18:126,189...130,123 JBrowse link
G Mtx2 metaxin 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 3:59,730,206...59,792,202
Ensembl chr 3:59,730,197...59,792,201 		JBrowse link
G Mucl3 mucin like 3 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:3,100,652...3,108,569
Ensembl chr20:3,100,679...3,108,569 		JBrowse link
G Ncoa4 nuclear receptor coactivator 4 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr16:7,389,222...7,409,564
Ensembl chr16:7,366,542...7,409,641
Ensembl chr16:7,366,542...7,409,641 		JBrowse link
G Ncr3 natural cytotoxicity triggering receptor 3 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:3,637,242...3,643,748
Ensembl chr20:3,638,240...3,643,799 		JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 9:64,546,430...64,579,751
Ensembl chr 9:64,546,225...64,579,893 		JBrowse link
G Nfkbil1 NFKB inhibitor like 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:3,589,974...3,608,348
Ensembl chr20:3,590,642...3,605,616 		JBrowse link
G Nkapl NFKB activating protein-like ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:43,135,096...43,136,613
Ensembl chr17:43,135,096...43,136,613 		JBrowse link
G Nol10 nucleolar protein 10 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 6:40,144,217...40,225,353
Ensembl chr 6:40,144,235...40,225,353 		JBrowse link
G Nrm nurim ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:2,888,321...2,892,804
Ensembl chr20:2,877,567...2,891,802 		JBrowse link
G Ogdhl oxoglutarate dehydrogenase L ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr16:7,578,343...7,604,385
Ensembl chr16:7,578,367...7,604,386 		JBrowse link
G Or10c1 olfactory receptor family 10 subfamily C member 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:1,370,602...1,371,540
Ensembl chr20:1,370,586...1,371,563 		JBrowse link
G Or11a4 olfactory receptor family 11 subfamily A member 4 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:1,354,527...1,355,468
Ensembl chr20:1,353,852...1,360,783 		JBrowse link
G Or12d14c olfactory receptor family 12 subfamily D member 14C ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:1,296,642...1,297,532
Ensembl chr20:1,296,470...1,297,620 		JBrowse link
G Or12d17 olfactory receptor family 12 subfamily D member 17 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:992,771...993,736
Ensembl chr20:990,631...1,000,725 		JBrowse link
G Or14j1 olfactory receptor family 14 subfamily J member 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:689,684...690,646
Ensembl chr20:685,475...692,605 		JBrowse link
G Or2h1 olfactory receptor family 2 subfamily H member 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:1,445,980...1,446,918
Ensembl chr20:1,444,837...1,449,341 		JBrowse link
G Or2h2c olfactory receptor family 2 subfamily H member 2C ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:1,398,964...1,399,902
Ensembl chr20:1,395,108...1,400,441 		JBrowse link
G Or2j3 olfactory receptor family 2 subfamily J member 3 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:253,033...253,971
Ensembl chr20:250,990...256,328 		JBrowse link
G Or2w1 olfactory receptor family 2 subfamily W member 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:43,611,986...43,612,939
Ensembl chr17:43,608,678...43,616,084 		JBrowse link
G Or5v1b olfactory receptor family 5 subfamily V member 1B ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:1,158,073...1,159,026
Ensembl chr20:1,151,540...1,159,222 		JBrowse link
G Otogl otogelin-like ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 7:43,065,800...43,211,400
Ensembl chr 7:43,067,644...43,223,592 		JBrowse link
G P2rx6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:83,439,922...83,450,449
Ensembl chr11:83,439,924...83,450,481 		JBrowse link
G Parg poly (ADP-ribose) glycohydrolase ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr16:7,436,429...7,544,276
Ensembl chr16:7,436,476...7,544,273 		JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710 		JBrowse link
G Pgbd1 piggyBac transposable element derived 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:43,168,275...43,198,738 JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080 		JBrowse link
G Polr1h RNA polymerase I subunit H ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:1,594,936...1,598,854
Ensembl chr20:1,594,936...1,598,854 		JBrowse link
G Pou5f1 POU class 5 homeobox 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:3,223,128...3,227,891
Ensembl chr20:3,223,129...3,227,891 		JBrowse link
G Ppid peptidylprolyl isomerase D ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 2:164,727,803...164,740,168
Ensembl chr 2:164,727,779...164,740,221 		JBrowse link
G Ppm1d protein phosphatase, Mg2+/Mn2+ dependent, 1D ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:70,172,603...70,208,607
Ensembl chr10:70,172,603...70,208,607 		JBrowse link
G Ppp1r10 protein phosphatase 1, regulatory subunit 10 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:2,822,995...2,838,125
Ensembl chr20:2,822,995...2,837,611 		JBrowse link
G Ppp1r11 protein phosphatase 1, regulatory (inhibitor) subunit 11 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:1,601,350...1,604,857
Ensembl chr20:1,601,346...1,604,846 		JBrowse link
G Ppp1r18 protein phosphatase 1, regulatory subunit 18 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:2,877,567...2,887,526
Ensembl chr20:2,877,567...2,891,802 		JBrowse link
G Prodh proline dehydrogenase ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305 		JBrowse link
G Prr3 proline rich 3 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:2,792,868...2,799,865
Ensembl chr20:2,792,860...2,799,865 		JBrowse link
G Prrc2a proline-rich coiled-coil 2A ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:3,658,391...3,674,143
Ensembl chr20:3,658,695...3,674,130 		JBrowse link
G Psors1c2 psoriasis susceptibility 1 candidate 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:3,202,178...3,203,599
Ensembl chr20:3,202,174...3,203,599 		JBrowse link
G Radil Rap associating with DIL domain ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr12:12,024,395...12,088,540
Ensembl chr12:12,024,395...12,088,540 		JBrowse link
G Ranbp1 RAN binding protein 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:82,742,603...82,750,836
Ensembl chr11:82,742,600...82,750,838 		JBrowse link
G Rbak RB-associated KRAB zinc finger ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr12:11,375,314...11,388,937
Ensembl chr12:11,375,318...11,388,934 		JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:25741868 NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
G Rnf39 ring finger protein 39 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:1,604,794...1,610,283
Ensembl chr20:1,604,794...1,610,283 		JBrowse link
G Rpp21 ribonuclease P/MRP subunit p21 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:2,018,170...2,020,100
Ensembl chr20:2,018,147...2,020,106 		JBrowse link
G RT1-A2 RT1 class Ia, locus A2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:4,870,939...4,910,183 JBrowse link
G RT1-CE16 RT1 class I, locus CE16 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563 		JBrowse link
G RT1-CE5 RT1 class I, locus CE5 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:3,403,418...3,479,476 JBrowse link
G RT1-M3-1 RT1 class Ib, locus M3, gene 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:1,323,976...1,328,126
Ensembl chr20:1,287,521...1,328,117 		JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:82,844,309...82,869,251
Ensembl chr11:82,844,309...82,869,466 		JBrowse link
G Rxfp1 relaxin family peptide receptor 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 2:164,772,270...164,893,484
Ensembl chr 2:164,774,799...164,893,412 		JBrowse link
G Scarf2 scavenger receptor class F, member 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348 		JBrowse link
G Sdk1 sidekick cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr12:12,378,074...13,363,934
Ensembl chr12:12,380,524...13,363,976 		JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393 		JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519 		JBrowse link
G Sfta2 surfactant associated 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:3,093,569...3,094,299
Ensembl chr20:3,093,565...3,094,299 		JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 1:229,996,673...230,259,591
Ensembl chr 1:229,998,119...230,259,603 		JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr16:7,713,630...7,716,491 JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781 		JBrowse link
G Slc25a13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902 		JBrowse link
G Slc29a4 solute carrier family 29 member 4 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr12:11,853,540...11,884,660
Ensembl chr12:11,853,540...11,874,834 		JBrowse link
G Slc6a6 solute carrier family 6 member 6 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 4:124,195,186...124,268,880
Ensembl chr 4:124,195,218...124,268,875 		JBrowse link
G Slc7a4 solute carrier family 7, member 4 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:83,435,093...83,439,078
Ensembl chr11:83,435,211...83,438,881 		JBrowse link
G Slc8a1 solute carrier family 8 member A1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Megacolon		 CTD
ClinVar		 PMID:15185227 PMID:17560225 PMID:21681106 NCBI chr 6:13,194,609...13,547,369
Ensembl chr 6:13,194,662...13,535,628 		JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:83,578,479...83,608,953
Ensembl chr11:83,578,489...83,608,958 		JBrowse link
G Swt1 SWT1 RNA endoribonuclease homolog ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr13:63,452,494...63,509,982
Ensembl chr13:63,452,496...63,509,980 		JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380 		JBrowse link
G Tbx2 T-box transcription factor 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:70,679,670...70,688,868
Ensembl chr10:70,679,518...70,688,529 		JBrowse link
G Tbx4 T-box transcription factor 4 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:70,730,686...70,760,829
Ensembl chr10:70,731,163...70,760,825 		JBrowse link
G Tcf19 transcription factor 19 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:3,218,756...3,222,861
Ensembl chr20:3,218,693...3,223,271 		JBrowse link
G Thap7 THAP domain containing 7 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:83,482,958...83,486,136
Ensembl chr11:83,483,037...83,486,436 		JBrowse link
G Timm23 translocase of inner mitochondrial membrane 23 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr16:7,410,308...7,436,392
Ensembl chr16:7,409,688...7,436,379 		JBrowse link
G Tmem132c transmembrane protein 132C ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr12:29,115,213...29,437,900
Ensembl chr12:29,116,467...29,437,870 		JBrowse link
G Tmem273 transmembrane protein 273 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr16:8,049,565...8,081,981
Ensembl chr16:8,049,669...8,081,981 		JBrowse link
G Tmx3 thioredoxin-related transmembrane protein 3 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr18:83,731,777...83,764,719
Ensembl chr18:83,731,868...83,762,263 		JBrowse link
G Tnf tumor necrosis factor ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnrc18 trinucleotide repeat containing 18 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr12:11,755,394...11,851,717
Ensembl chr12:11,755,392...11,851,384 		JBrowse link
G Trat1 T cell receptor associated transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:52,035,750...52,077,805
Ensembl chr11:52,035,750...52,077,805 		JBrowse link
G Trim10 tripartite motif-containing 10 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:1,689,554...1,698,948
Ensembl chr20:1,689,562...1,698,252 		JBrowse link
G Trim15 tripartite motif containing 15 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:1,700,905...1,710,249
Ensembl chr20:1,700,905...1,710,249 		JBrowse link
G Trim26 tripartite motif-containing 26 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:1,708,297...1,731,176
Ensembl chr20:1,709,788...1,731,120 		JBrowse link
G Trim27 tripartite motif-containing 27 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:43,538,282...43,550,633
Ensembl chr17:43,538,285...43,550,643 		JBrowse link
G Trim31 tripartite motif-containing 31 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:1,653,165...1,666,494
Ensembl chr20:1,653,165...1,666,494 		JBrowse link
G Trim39 tripartite motif-containing 39 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:2,003,320...2,017,175
Ensembl chr20:1,983,533...2,020,117 		JBrowse link
G Trim40 tripartite motif-containing 40 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:1,676,114...1,685,906
Ensembl chr20:1,676,270...1,685,214 		JBrowse link
G Trmt1l tRNA methyltransferase 1-like ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr13:63,510,097...63,543,268
Ensembl chr13:63,510,204...63,543,266 		JBrowse link
G Trmt2a tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:82,737,689...82,742,423
Ensembl chr11:82,737,689...82,742,336 		JBrowse link
G Tssk2 testis-specific serine kinase 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:83,086,578...83,087,933 JBrowse link
G Tubb5 tubulin, beta 5 class I ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:2,912,779...2,916,928
Ensembl chr20:2,912,778...2,916,940 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156 		JBrowse link
G Ubd ubiquitin D ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:1,385,487...1,387,438
Ensembl chr20:1,385,864...1,408,639
Ensembl chr20:1,385,864...1,408,639 		JBrowse link
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:82,161,618...82,185,107
Ensembl chr11:82,161,619...82,185,087 		JBrowse link
G Usp32 ubiquitin specific peptidase 32 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr10:69,855,895...70,029,075
Ensembl chr10:69,855,885...70,029,137 		JBrowse link
G Vars2 valyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:3,077,132...3,087,994
Ensembl chr20:3,077,132...3,087,994 		JBrowse link
G Vstm4 V-set and transmembrane domain containing 4 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr16:8,120,336...8,200,272
Ensembl chr16:8,120,336...8,200,269 		JBrowse link
G Wdfy4 WDFY family member 4 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr16:8,221,853...8,450,494
Ensembl chr16:8,221,719...8,450,491 		JBrowse link
G Wipi2 WD repeat domain, phosphoinositide interacting 2 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr12:11,911,369...11,939,799
Ensembl chr12:11,911,337...11,939,794 		JBrowse link
G Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr11:82,755,110...82,769,280
Ensembl chr11:82,755,143...82,767,734 		JBrowse link
G Zfp57 zinc finger protein 57 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr20:1,521,323...1,534,884
Ensembl chr20:1,521,323...1,529,846 		JBrowse link
G Zim1 zinc finger, imprinted 1 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr 1:67,132,076...67,157,843
Ensembl chr 1:67,132,147...67,153,761 		JBrowse link
G Zkscan3 zinc finger with KRAB and SCAN domains 3 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:43,217,168...43,232,828
Ensembl chr17:43,217,222...43,232,827 		JBrowse link
G Zkscan4 zinc finger with KRAB and SCAN domains 4 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:43,104,853...43,113,101
Ensembl chr17:43,106,370...43,113,183 		JBrowse link
G Zkscan8 zinc finger with KRAB and SCAN domains 8 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:43,039,383...43,057,391
Ensembl chr17:43,039,383...43,057,391 		JBrowse link
G Zscan12 zinc finger and SCAN domain containing 12 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:43,247,250...43,253,206
Ensembl chr17:43,247,095...43,253,264 		JBrowse link
G Zscan26 zinc finger and SCAN domain containing 26 ISO ClinVar Annotator: match by term: Megacolon ClinVar PMID:21681106 NCBI chr17:43,148,063...43,168,070
Ensembl chr17:43,148,079...43,168,070 		JBrowse link
cartilage-hair hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Cartilage-hair hypoplasia ClinVar PMID:8034306 PMID:9156319 PMID:10026268 PMID:11207361 PMID:11940090 More... NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918 		JBrowse link
Goldberg-Shprintzen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,501,150...166,515,477
Ensembl chr 5:166,500,781...166,515,481 		JBrowse link
G Actrt2 actin-related protein T2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629 		JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003 		JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,398,359...166,400,616
Ensembl chr 5:166,397,748...166,400,953 		JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482 		JBrowse link
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338 		JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,551,628...166,556,003
Ensembl chr 5:166,551,628...166,556,003 		JBrowse link
G C5h1orf159 similar to human chromosome 1 open reading frame 159 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,701,485...166,719,939
Ensembl chr 5:166,701,676...166,719,955 		JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,416,940...166,428,997
Ensembl chr 5:166,417,508...166,436,882 		JBrowse link
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876 		JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071 		JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,474,947...166,479,103
Ensembl chr 5:166,474,966...166,479,017 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664 		JBrowse link
G Faap20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,808,370...165,815,291
Ensembl chr 5:165,808,657...165,815,333 		JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,299,587...166,311,477
Ensembl chr 5:166,300,122...166,310,326 		JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124 		JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,522,138...165,523,684
Ensembl chr 5:165,522,234...165,523,001 		JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651 		JBrowse link
G Kifbp kinesin family binding protein ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:609460
ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome | ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome		 CTD
MouseDO
ClinVar
OMIM		 PMID:15883926 PMID:18414213 PMID:23427148 PMID:24072599 PMID:24901346 More... NCBI chr20:30,512,899...30,532,504
Ensembl chr20:30,512,901...30,532,476 		JBrowse link
G Mib2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,243,776...166,259,944
Ensembl chr 5:166,243,776...166,259,650 		JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,648,494...166,648,582 JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366 		JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543 		JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716 		JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,239,643...166,242,734
Ensembl chr 5:166,239,644...166,242,433 		JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,646,817...165,704,892
Ensembl chr 5:165,646,991...165,704,892 		JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,408,962...166,413,492
Ensembl chr 5:166,408,962...166,413,492 		JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,448,919...166,453,645
Ensembl chr 5:166,449,154...166,453,636 		JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,145,708...166,176,328
Ensembl chr 5:166,145,481...166,176,322 		JBrowse link
G Nek9 NIMA-related kinase 9 ISO ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome ClinVar PMID:25741868 NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538 		JBrowse link
G Pank4 pantothenate kinase 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965 		JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356 		JBrowse link
G Prkcz protein kinase C, zeta ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367 		JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,462,610...165,465,213 JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,497,643...166,500,647
Ensembl chr 5:166,496,755...166,500,611 		JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750 		JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,723,346...166,726,236
Ensembl chr 5:166,724,984...166,725,751 		JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521 		JBrowse link
G Ski Ski proto-oncogene ISO ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:7977351 PMID:8449506 PMID:8981946 PMID:9536098 PMID:15979919 More... NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733 		JBrowse link
G Slc35e2b solute carrier family 35, member E2B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021 		JBrowse link
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,312,267...166,343,432
Ensembl chr 5:166,313,650...166,343,429 		JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,468,703...166,472,759
Ensembl chr 5:166,469,589...166,472,742 		JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,344,000...166,350,210
Ensembl chr 5:166,344,386...166,350,636 		JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,048,669...166,050,423
Ensembl chr 5:166,046,565...166,050,433 		JBrowse link
G Tmem88b transmembrane protein 88B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,391,080...166,393,904
Ensembl chr 5:166,391,080...166,393,904 		JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703 		JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353 		JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599 		JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,411,063...165,428,864
Ensembl chr 5:165,411,058...165,428,857 		JBrowse link
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,630,147...166,644,114
Ensembl chr 5:166,630,152...166,653,707 		JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,533,374...166,547,811
Ensembl chr 5:166,533,418...166,547,804 		JBrowse link
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637 		JBrowse link
Hirschsprung Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More... NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:25741868 PMID:26559152 PMID:28492532 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Lrba LPS responsive beige-like anchor protein ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:171,623,668...172,202,576
Ensembl chr 2:171,621,507...172,202,724 		JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088 		JBrowse link
G Nrp2 neuropilin 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:25741868 NCBI chr 9:64,122,815...64,238,007
Ensembl chr 9:64,123,132...64,237,958 		JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:24357527 PMID:25741868 NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234 		JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7633441 PMID:7704557 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:24357527 PMID:25741868 NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:25741868 PMID:26017485 PMID:28492532 NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:10205261 PMID:15798777 PMID:17304050 PMID:22703879 PMID:24728327 More... NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
Hirschsprung Disease Ganglioneuroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phox2b paired-like homeobox 2b ISO ClinVar Annotator: match by term: Hirschsprung disease ganglioneuroblastoma ClinVar PMID:11953745 PMID:12438263 PMID:15024693 PMID:15338462 PMID:17637745 More... NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978 		JBrowse link
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ece1 endothelin converting enzyme 1 susceptibility ISO ClinVar Annotator: match by term: Hirschsprung disease, cardiac defects, and autonomic dysfunction
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:8530372 PMID:9915973 PMID:25741868 PMID:34298581 NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371 		JBrowse link
Hirschsprung's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ache acetylcholinesterase ISO RGD PMID:21991983 RGD:5509847 NCBI chr12:19,406,133...19,413,713
Ensembl chr12:19,407,360...19,413,651 		JBrowse link
G Aebp2 AE binding protein 2 ISS OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 MouseDO NCBI chr 4:173,527,881...173,566,033
Ensembl chr 4:173,528,344...173,593,100 		JBrowse link
G Ahnak AHNAK nucleoprotein ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:28492532 NCBI chr 1:205,882,225...205,970,934
Ensembl chr 1:205,882,273...205,970,926 		JBrowse link
G Axin2 axin 2 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:21626677 PMID:25260786 PMID:25637381 PMID:25741868 PMID:27696107 More... NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231 		JBrowse link
G Bmi1 BMI1 proto-oncogene, polycomb ring finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:29429387 NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690 		JBrowse link
G Cavin2 caveolae associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25792468 NCBI chr 9:50,302,079...50,314,096
Ensembl chr 9:50,301,206...50,314,147 		JBrowse link
G Ccr9 C-C motif chemokine receptor 9 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 8:123,396,157...123,410,199
Ensembl chr 8:123,395,813...123,413,969 		JBrowse link
G Cd14 CD14 molecule IEP protein:increased expression:intestine: RGD PMID:15117676 RGD:7193054 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261 		JBrowse link
G Cluh clustered mitochondria homolog ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr10:59,509,580...59,531,345
Ensembl chr10:59,509,726...59,531,345 		JBrowse link
G Cntn5 contactin 5 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 8:6,735,715...7,967,727
Ensembl chr 8:6,738,239...7,967,957 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Csmd3 CUB and Sushi multiple domains 3 ISO ClinVar Annotator: match by term: CSMD3-associated Hirschsprung disease ClinVar NCBI chr 7:78,747,322...80,066,466
Ensembl chr 7:78,748,480...80,066,369 		JBrowse link
G Dennd3 DENN domain containing 3 ISO ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 7:105,415,870...105,473,583
Ensembl chr 7:105,415,677...105,473,592 		JBrowse link
G Depdc1 DEP domain containing 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 2:248,684,508...248,717,951
Ensembl chr 2:248,684,523...248,717,951 		JBrowse link
G Dppa5 developmental pluripotency associated 5 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 8:79,215,341...79,217,282
Ensembl chr 8:79,215,362...79,216,570
Ensembl chr 7:79,215,362...79,216,570 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More... NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982 		JBrowse link
G Dscam DS cell adhesion molecule ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr11:35,921,924...36,507,100
Ensembl chr11:35,926,896...36,507,415 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183 		JBrowse link
G Ece1 endothelin converting enzyme 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aganglionic megacolon		 CTD
ClinVar		 PMID:9915973 NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371 		JBrowse link
G Edn3 endothelin 3 susceptibility ISO
ISS		 DNA:point mutation:exon:A17T, A224T
OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644
ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD
RGD		 PMID:8630502 PMID:8630503 PMID:8696331 PMID:8896568 PMID:9359047 More... RGD:1601003 NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093 		JBrowse link
G Ednrb endothelin receptor type B treatment ISO
ISS
IAGP
IMP		 DNA:point mutation:exon:W276C
OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Recessive | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD
RGD		 PMID:8001158 PMID:8852658 PMID:8852659 PMID:8852660 PMID:8896568 More... RGD:1601008, RGD:6480215, RGD:6480217, RGD:628516, RGD:1342447 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115 		JBrowse link
G Ednrbsl endothelin receptor type B, spotting lethal IAGP RGD PMID:21915282 PMID:22132166 RGD:6480217, RGD:6480215
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO
ISS		 OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 MouseDO
RGD		 PMID:12526770 RGD:734940 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078 		JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317 		JBrowse link
G Fat3 FAT atypical cadherin 3 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 8:12,691,470...13,274,336
Ensembl chr 8:12,694,019...13,273,135 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 PMID:26559152 PMID:28492532 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Fmn2 formin 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr13:86,454,256...86,771,437
Ensembl chr13:86,453,926...86,771,411 		JBrowse link
G Gdnf glial cell derived neurotrophic factor susceptibility ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644
ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3		 CTD
MouseDO
ClinVar
OMIM		 PMID:8896568 PMID:8896569 PMID:8968758 PMID:9215674 PMID:9359036 More... NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209 		JBrowse link
G Gfra1 GDNF family receptor alpha 1 ISO
ISS		 ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712		 ClinVar
MouseDO
RGD		 PMID:17507417 RGD:6218967 NCBI chr 1:257,315,682...257,552,004
Ensembl chr 1:257,321,742...257,551,473 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:9302279 PMID:25741868 PMID:28492532 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:missense mutation:cds:p.K173N (human) (rs1065411) RGD PMID:20661602 RGD:12792222 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:missense mutation:cds:p.V155I (human) (rs2266637) RGD PMID:20661602 RGD:12792222 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Hdac8 histone deacetylase 8 ISO protein:decreased expression:colon (human) RGD PMID:16771768 RGD:13208819 NCBI chr  X:67,385,288...67,593,014
Ensembl chr  X:67,385,289...67,592,923 		JBrowse link
G Ihh Indian hedgehog signaling molecule ISS
ISO		 OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1		 MouseDO
ClinVar		 NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532 		JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250 		JBrowse link
G Iqcf5 IQ motif containing F5 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 8:107,151,477...107,152,862
Ensembl chr 8:107,151,462...107,152,869 		JBrowse link
G Irak3 interleukin-1 receptor-associated kinase 3 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:28492532 NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121 		JBrowse link
G Itgb1 integrin subunit beta 1 ISS OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 MouseDO NCBI chr19:56,705,123...56,753,199
Ensembl chr19:56,705,171...56,753,195 		JBrowse link
G Kdr kinase insert domain receptor ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:24728327 PMID:28492532 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO protein:decreased expression:aganglionic colon:
protein:decreased expression:intestine smooth muscle"		 RGD PMID:8831584 PMID:9247236 RGD:12910727, RGD:12910747 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar
RGD		 PMID:28492532 PMID:21395909 RGD:6483043 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Lrba LPS responsive beige-like anchor protein ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:171,623,668...172,202,576
Ensembl chr 2:171,621,507...172,202,724 		JBrowse link
G Lztfl1 leucine zipper transcription factor-like 1 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 8:123,344,085...123,360,245
Ensembl chr 8:123,344,925...123,360,192 		JBrowse link
G Man2a2 mannosidase, alpha, class 2A, member 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 1:134,304,714...134,327,611
Ensembl chr 1:134,306,236...134,327,315 		JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr11:83,280,722...83,356,006
Ensembl chr11:83,280,762...83,355,362 		JBrowse link
G Mgam2 maltase-glucoamylase 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 4:69,624,024...69,715,782
Ensembl chr 4:69,637,799...69,683,742 		JBrowse link
G Mir128-1 microRNA 128-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29429387 NCBI chr13:39,699,449...39,699,530
Ensembl chr13:39,699,449...39,699,530 		JBrowse link
G Mir195 microRNA 195 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25007945 NCBI chr10:54,951,838...54,951,924
Ensembl chr10:54,951,838...54,951,924 		JBrowse link
G Mir206 microRNA 206 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25792468 NCBI chr 9:23,094,249...23,094,332
Ensembl chr 9:23,094,249...23,094,332 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:25741868 NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Nav2 neuron navigator 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 1:98,957,629...99,322,339
Ensembl chr 1:98,663,759...99,322,337 		JBrowse link
G Ncln nicalin ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 7:8,211,978...8,221,938
Ensembl chr 7:8,211,996...8,221,934 		JBrowse link
G Ngfr nerve growth factor receptor ISO protein:decreased expression:lamina propria:lack of staining is a marker for HD (human) RGD PMID:7807351 RGD:5508387 NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518 		JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088 		JBrowse link
G Notch4 notch receptor 4 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465 		JBrowse link
G Nrg1 neuregulin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22974608 NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884 		JBrowse link
G Nrg3 neuregulin 3 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:28492532 NCBI chr16:14,229,270...15,352,505
Ensembl chr16:14,235,157...15,352,368 		JBrowse link
G Nrp2 neuropilin 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr 9:64,122,815...64,238,007
Ensembl chr 9:64,123,132...64,237,958 		JBrowse link
G Nrtn neurturin ISO RGD PMID:9700200 RGD:1600267 NCBI chr 9:1,581,860...1,587,835
Ensembl chr 9:1,581,975...1,583,102 		JBrowse link
G Ntf3 neurotrophin 3 ISO ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO protein:altered expression:intestine RGD PMID:8943115 RGD:5684546 NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770 		JBrowse link
G Nup98 nucleoporin 98 and 96 precursor ISO ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 1:156,494,423...156,591,415
Ensembl chr 1:156,494,423...156,591,415 		JBrowse link
G Oas3 2'-5'-oligoadenylate synthetase 3 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr12:35,779,028...35,802,781
Ensembl chr12:35,779,022...35,802,781 		JBrowse link
G Or1f34 olfactory receptor family 1 subfamily F member 34 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr10:12,333,860...12,334,801
Ensembl chr10:12,333,860...12,334,801 		JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:28492532 NCBI chr 1:202,437,503...202,569,473
Ensembl chr 1:202,437,505...202,569,473 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719 		JBrowse link
G Pcdha1 protocadherin alpha 1 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha10 protocadherin alpha 10 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha11 protocadherin alpha 11 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha12 protocadherin alpha 12 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha13 protocadherin alpha 13 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 ClinVar Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha2 protocadherin alpha 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha3 protocadherin alpha 3 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha4 protocadherin alpha 4 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr18:28,581,040...28,846,214
Ensembl chr18:28,581,225...28,846,211 		JBrowse link
G Pcdha5 protocadherin alpha 5 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha6 protocadherin alpha 6 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha7 protocadherin alpha 7 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha8 protocadherin alpha 8 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha9 protocadherin alpha 9 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdhac1 protocadherin alpha subfamily C, 1 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr18:28,740,353...28,750,216
Ensembl chr18:28,581,225...28,846,211 		JBrowse link
G Pcdhac2 protocadherin alpha subfamily C, 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pgrmc2 progesterone receptor membrane component 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 2:124,068,257...124,084,155
Ensembl chr 2:124,068,260...124,084,155 		JBrowse link
G Phax phosphorylated adaptor for RNA export ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr18:50,053,133...50,069,823
Ensembl chr18:50,053,023...50,069,823 		JBrowse link
G Phox2b paired-like homeobox 2b ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978 		JBrowse link
G Phrf1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 1:196,333,663...196,366,901
Ensembl chr 1:196,333,903...196,366,892 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:25741868 NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146 		JBrowse link
G Plau plasminogen activator, urokinase ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:28492532 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:24357527 PMID:25741868 NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245 		JBrowse link
G Prokr1 prokineticin receptor 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 4:120,022,301...120,033,367
Ensembl chr 4:120,021,747...120,033,379 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:16231297 PMID:23334667 PMID:24728327 PMID:26467025 PMID:26559152 More... NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Ret ret proto-oncogene ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease | 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
OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4
DNA:SNPs:exon, intron:multiple		 CTD
OMIM
ClinVar
MouseDO
RGD		 PMID:2008030 PMID:2639553 PMID:2660074 PMID:2904651 PMID:3078962 More... RGD:12910713 NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
G Sema3d semaphorin 3D ISO ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:22,316,769...22,505,930
Ensembl chr 4:22,316,779...22,505,930 		JBrowse link
G Serpinf1 serpin family F member 1 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:20972907 RGD:12801434 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
G Slc22a1 solute carrier family 22 member 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 1:48,076,657...48,103,679
Ensembl chr 1:48,076,666...48,103,678 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:10975929 RGD:12879497 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
G Snf8 SNF8 subunit of ESCRT-II ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr10:80,984,337...80,996,724
Ensembl chr10:80,984,363...80,996,734 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO DNA:frameshift:cds:
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1		 ClinVar
RGD		 PMID:24357527 PMID:25741868 PMID:9560246 RGD:12802335 NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544 		JBrowse link
G Stx1a syntaxin 1A ISO RGD PMID:11345516 RGD:1581432 NCBI chr12:21,641,971...21,670,022
Ensembl chr12:21,641,969...21,669,930 		JBrowse link
G Tbata thymus, brain and testes associated ISO ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr20:29,118,055...29,135,124
Ensembl chr20:29,118,070...29,135,109 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 PMID:26017485 PMID:28492532 NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405 		JBrowse link
G Thbs4 thrombospondin 4 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 2:23,983,158...24,025,289
Ensembl chr 2:23,983,158...24,026,313 		JBrowse link
G Tmem165 transmembrane protein 165 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr14:31,993,489...32,018,717
Ensembl chr14:31,993,493...32,018,717 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:10205261 PMID:15798777 PMID:17304050 PMID:22703879 PMID:24728327 More... NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
G Utp25 UTP25 small subunit processome component ISO CTD Direct Evidence: marker/mechanism CTD PMID:25007945 NCBI chr13:104,630,390...104,651,681
Ensembl chr13:104,630,391...104,651,662 		JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606 		JBrowse link
G Wnt8b Wnt family member 8B ISO RGD PMID:20972907 RGD:12801434 NCBI chr 1:243,354,145...243,376,000
Ensembl chr 1:243,354,086...243,374,286 		JBrowse link
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr10:60,584,665...60,622,352
Ensembl chr10:60,584,652...60,671,589 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO Mowat-Wilson syndrome, OMIM:235730
ClinVar Annotator: match by term: Aganglionic megacolon		 ClinVar
RGD		 PMID:11279515 RGD:1599885 NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157 		JBrowse link
G Zfp592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 1:134,951,286...135,002,443
Ensembl chr 1:134,967,783...135,002,443 		JBrowse link
G Zhx2 zinc fingers and homeoboxes 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 7:89,226,358...89,374,266
Ensembl chr 7:89,226,463...89,374,378 		JBrowse link
Mowat-Wilson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp activity-dependent neuroprotector homeobox ISO ClinVar Annotator: match by term: Hirschsprung disease mental retardation syndrome ClinVar PMID:25741868 NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312 		JBrowse link
G Arhgap15 Rho GTPase activating protein 15 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:27,989,368...28,592,722
Ensembl chr 3:27,989,633...28,600,265 		JBrowse link
G Gtdc1 glycosyltransferase-like domain containing 1 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar PMID:12920073 NCBI chr 3:28,766,640...29,161,668
Ensembl chr 3:28,766,645...29,162,271 		JBrowse link
G Hnmt histamine N-methyltransferase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012 		JBrowse link
G Kynu kynureninase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:27,778,646...27,929,470
Ensembl chr 3:27,778,772...27,929,488 		JBrowse link
G Lrp1b LDL receptor related protein 1B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:24,594,302...26,715,037
Ensembl chr 3:24,594,991...26,715,505 		JBrowse link
G Nxph2 neurexophilin 2 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:5,986,175...5,988,525
Ensembl chr 3:5,756,621...5,987,008 		JBrowse link
G Spopl speckle type BTB/POZ protein like ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:6,074,681...6,148,508
Ensembl chr 3:6,078,310...6,108,794 		JBrowse link
G Thsd7b thrombospondin type 1 domain containing 7B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr13:40,768,567...41,667,262
Ensembl chr13:40,768,570...41,666,501 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO
ISS		 ClinVar Annotator: match by term: Mowat-Wilson syndrome | ClinVar Annotator: match by term: ZEB2-related condition
OMIM:235730
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2030158 PMID:9536098 PMID:9719364 PMID:11279515 PMID:11448942 More... NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157 		JBrowse link
G Zeb2-as1 ZEB2 antisense RNA 1 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar PMID:12920073 NCBI chr 3:29,343,078...29,345,943 JBrowse link
PCWH syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpz myelin protein zero ISS OMIM:609136 MouseDO NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679 		JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: PCWH syndrome | ClinVar Annotator: match by term: Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease ClinVar PMID:1636383 PMID:9462749 PMID:10482261 PMID:10762540 PMID:11026454 More... NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234 		JBrowse link
G Sox10 SRY-box transcription factor 10 severity ISO
ISS		 ClinVar Annotator: match by term: PCWH syndrome | ClinVar Annotator: match by term: Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
OMIM:609136
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1636383 PMID:9462749 PMID:10482261 PMID:10762540 PMID:11026454 More... RGD:12802339 NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544 		JBrowse link
Total Intestinal Aganglionosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednrb endothelin receptor type B IAGP
ISO		 ClinVar Annotator: match by term: Aganglionosis, total intestinal ClinVar
RGD		 PMID:16944573 PMID:18162831 PMID:25741868 PMID:30303587 PMID:32747562 More... RGD:6480217, RGD:6480215 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115 		JBrowse link
G Ednrbsl endothelin receptor type B, spotting lethal IAGP RGD PMID:21915282 PMID:22132166 RGD:6480217, RGD:6480215
Waardenburg Syndrome Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edn3 endothelin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8630502 PMID:8630503 PMID:17516928 NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093 		JBrowse link
G Ednrb endothelin receptor type B IAGP
ISO		 ClinVar Annotator: match by term: Hirschsprung disease with pigmentary anomaly ClinVar
RGD		 PMID:16944573 PMID:18162831 PMID:25741868 PMID:30303587 PMID:30311386 More... RGD:6480217 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115 		JBrowse link
G Ednrbsl endothelin receptor type B, spotting lethal IAGP RGD PMID:21915282 RGD:6480217
G Sox10 SRY-box transcription factor 10 ISO DNA:missense mutations,insertion,deletion:cds: RGD PMID:9462749 RGD:12832744 NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544 		JBrowse link
Waardenburg syndrome type 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednrb endothelin receptor type B ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Waardenburg syndrome type 4A
OMIM:277580		 CTD
OMIM
ClinVar
MouseDO		 PMID:7778600 PMID:8001158 PMID:8001159 PMID:8634719 PMID:8852659 More... NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115 		JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4A ClinVar PMID:25741868 NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4A ClinVar PMID:25741868 NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544 		JBrowse link
Waardenburg syndrome type 4B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edn3 endothelin 3 susceptibility ISO
ISS		 ClinVar Annotator: match by term: Waardenburg syndrome type 4B
OMIM:613265
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
MouseDO
CTD		 PMID:8630503 PMID:8696331 PMID:9359047 PMID:9587491 PMID:11303518 More... NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093 		JBrowse link
Waardenburg syndrome type 4C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4C ClinVar PMID:9462749 PMID:10077527 PMID:15004559 PMID:18348274 PMID:21898658 More... NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO
ISS		 ClinVar Annotator: match by term: Waardenburg syndrome type 4C
OMIM:613266
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9462749 PMID:10077527 PMID:15004559 PMID:18348274 PMID:21898658 More... NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      gastrointestinal system disease 7095
        intestinal disease 3077
          colonic disease 2306
            megacolon 399
              Hirschsprung's disease + 184
              toxic megacolon 0
paths to the root