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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:Digestive System Abnormalities
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Accession:DOID:9001683 term browser browse the term
Definition:Congenital structural abnormalities of the DIGESTIVE SYSTEM.
Synonyms:exact_synonym: Digestive System Abnormality
 primary_id: MESH:D004065;   RDO:0000418


show annotations for term's descendants           Sort by:
Anal Atresia, Hypospadias, and Penoscrotal Inversion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC4 ATP binding cassette subfamily C member 4 (PEL blood group) ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:64,089,149...64,309,831 JBrowse link
G ABHD13 abhydrolase domain containing 13 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:75,547,748...75,569,843
Ensembl chr11:75,547,747...75,570,263 		JBrowse link
G ANKRD10 ankyrin repeat domain 10 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:77,323,355...77,356,049
Ensembl chr11:77,323,358...77,356,112 		JBrowse link
G ARGLU1 arginine and glutamate rich 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:74,241,089...74,267,416
Ensembl chr11:74,239,419...74,267,379 		JBrowse link
G BIVM basic, immunoglobulin-like variable motif containing ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:71,110,463...71,138,861
Ensembl chr11:71,110,857...71,138,863 		JBrowse link
G CARS2 cysteinyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:77,231,865...77,269,936
Ensembl chr11:77,229,971...77,265,272 		JBrowse link
G CCDC168 coiled-coil domain containing 168 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:71,047,611...71,069,998 JBrowse link
G CLDN10 claudin 10 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:65,027,706...65,145,002
Ensembl chr11:65,121,607...65,145,072 		JBrowse link
G CLYBL citramalyl-CoA lyase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:68,507,828...68,768,322
Ensembl chr11:68,507,877...68,767,546 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:76,858,332...76,997,409
Ensembl chr11:76,858,356...76,997,322 		JBrowse link
G COL4A2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:76,996,885...77,161,617
Ensembl chr11:76,997,516...77,161,614 		JBrowse link
G DCT dopachrome tautomerase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:63,584,865...63,647,486
Ensembl chr11:63,584,869...63,678,344 		JBrowse link
G DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:65,230,145...65,299,084
Ensembl chr11:65,230,162...65,303,834 		JBrowse link
G DOCK9 dedicator of cytokinesis 9 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:67,764,009...68,052,352
Ensembl chr11:67,764,011...68,053,042 		JBrowse link
G DZIP1 DAZ interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:65,147,003...65,204,294
Ensembl chr11:65,147,004...65,204,299 		JBrowse link
G EFNB2 ephrin B2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:74,188,337...74,232,768
Ensembl chr11:74,186,640...74,233,354 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:71,141,823...71,168,326
Ensembl chr11:71,141,842...71,168,322 		JBrowse link
G FARP1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:67,144,622...67,457,547
Ensembl chr11:67,144,645...67,457,548 		JBrowse link
G FGF14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:70,251,374...70,861,941
Ensembl chr11:70,251,446...70,422,192 		JBrowse link
G GGACT gamma-glutamylamine cyclotransferase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:69,287,685...69,349,540 JBrowse link
G GPC6 glypican 6 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:62,436,143...63,560,908
Ensembl chr11:62,438,453...63,560,897 		JBrowse link
G GPR18 G protein-coupled receptor 18 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:68,187,402...68,191,622
Ensembl chr11:68,187,327...68,191,269 		JBrowse link
G GPR180 G protein-coupled receptor 180 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:63,720,048...63,764,720
Ensembl chr11:63,720,095...63,751,684 		JBrowse link
G GPR183 G protein-coupled receptor 183 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:68,231,851...68,248,627
Ensembl chr11:68,231,224...68,245,751 		JBrowse link
G HS6ST3 heparan sulfate 6-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:65,516,180...66,193,410
Ensembl chr11:65,516,097...66,187,242 		JBrowse link
G ING1 inhibitor of growth family member 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:77,270,272...77,278,346
Ensembl chr11:77,270,320...77,277,068 		JBrowse link
G IPO5 importin 5 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:67,019,299...67,059,375
Ensembl chr11:67,004,109...67,060,551 		JBrowse link
G IRS2 insulin receptor substrate 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:76,626,158...76,654,639
Ensembl chr11:76,626,179...76,653,881 		JBrowse link
G ITGBL1 integrin subunit beta like 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:70,042,051...70,246,974
Ensembl chr11:70,042,232...70,246,968 		JBrowse link
G LIG4 DNA ligase 4 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:75,537,027...75,547,711
Ensembl chr11:75,537,036...75,547,716 		JBrowse link
G MBNL2 muscleblind like splicing regulator 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:66,481,923...66,641,653
Ensembl chr11:66,481,923...66,641,653 		JBrowse link
G METTL21C methyltransferase 21C, AARS1 lysine ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:71,008,854...71,021,640
Ensembl chr11:71,008,846...71,020,730 		JBrowse link
G MYO16 myosin XVI ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:75,739,783...76,271,958 JBrowse link
G NALCN sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:69,710,355...70,023,020
Ensembl chr11:69,710,364...70,022,727 		JBrowse link
G NALF1 NALCN channel auxiliary factor 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:74,742,319...75,344,699
Ensembl chr11:74,743,587...75,344,229 		JBrowse link
G NAXD NAD(P)HX dehydratase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:77,210,164...77,230,687
Ensembl chr11:77,210,228...77,230,680 		JBrowse link
G OXGR1 oxoglutarate receptor 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:66,289,131...66,295,826 JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:68,920,923...69,286,431
Ensembl chr11:68,920,929...69,286,430 		JBrowse link
G POGLUT2 protein O-glucosyltransferase 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:71,095,116...71,110,490
Ensembl chr11:71,094,223...71,110,396 		JBrowse link
G RAB20 RAB20, member RAS oncogene family ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:77,167,052...77,188,893
Ensembl chr11:77,167,059...77,188,898 		JBrowse link
G RAP2A RAP2A, member of RAS oncogene family ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:66,679,162...66,718,565
Ensembl chr11:66,679,253...66,720,045 		JBrowse link
G SLC10A2 solute carrier family 10 member 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:71,328,801...71,348,779
Ensembl chr11:71,327,017...71,348,757 		JBrowse link
G SLC15A1 solute carrier family 15 member 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:67,652,808...67,690,457
Ensembl chr11:67,652,193...67,710,933 		JBrowse link
G SOX21 SRY-box transcription factor 21 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:63,822,110...63,826,498
Ensembl chr11:63,825,637...63,826,467 		JBrowse link
G STK24 serine/threonine kinase 24 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:67,458,350...67,565,642
Ensembl chr11:67,458,351...67,634,349 		JBrowse link
G TEX30 testis expressed 30 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:71,077,717...71,085,063
Ensembl chr11:71,077,728...71,084,646 		JBrowse link
G TGDS TDP-glucose 4,6-dehydratase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:63,695,612...63,716,614
Ensembl chr11:63,695,638...63,716,568 		JBrowse link
G TM9SF2 transmembrane 9 superfamily member 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:68,407,834...68,469,956
Ensembl chr11:68,404,975...68,469,953 		JBrowse link
G TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:69,361,219...69,442,769
Ensembl chr11:69,361,229...69,443,039 		JBrowse link
G TNFSF13B TNF superfamily member 13b ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:75,599,296...75,633,044
Ensembl chr11:75,599,598...75,633,041 		JBrowse link
G TPP2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:70,943,142...71,009,381
Ensembl chr11:70,943,141...71,009,627 		JBrowse link
G UBAC2 UBA domain containing 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:68,144,835...68,319,771
Ensembl chr11:68,145,101...68,319,939 		JBrowse link
G UGGT2 UDP-glucose glycoprotein glucosyltransferase 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:65,307,208...65,476,791
Ensembl chr11:65,307,168...65,476,544 		JBrowse link
G ZIC2 Zic family member 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:68,840,802...68,845,441
Ensembl chr11:68,840,631...68,845,378 		JBrowse link
G ZIC5 Zic family member 5 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:68,821,733...68,830,472
Ensembl chr11:68,821,735...68,830,540 		JBrowse link
Anorectal Malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 severity ISO mRNA:decreased expression:rectum:
mRNA:decreased expression:hindgut
mRNA, protein:decreased expression:rectum		 RGD PMID:17161201 PMID:20146882 PMID:22027561 RGD:12798571 RGD:1599527 RGD:9068408 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637 		JBrowse link
G CDX2 caudal type homeobox 2 ISO ClinVar Annotator: match by term: Anorectal malformation ClinVar PMID:25741868 NCBI chr11:5,339,727...5,346,081
Ensembl chr11:5,339,716...5,346,057 		JBrowse link
G EPHB2 EPH receptor B2 ISO mRNA,protein:decreased expression:embryonic cloaca, urorectal septum RGD PMID:19302865 RGD:127285623 NCBI chr 6:80,649,098...80,849,979
Ensembl chr 6:80,650,740...80,843,567 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO mRNA:decreased expression:rectum (rat) RGD PMID:26514922 RGD:11052641 NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425 		JBrowse link
G GLI2 GLI family zinc finger 2 ISO mRNA, protein:decreased expression:rectum
mRNA:decreased expression:terminal rectum 		RGD PMID:11485934 PMID:20146882 PMID:25213187 RGD:12798571 RGD:12802352 RGD:155791683 NCBI chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306 		JBrowse link
G GLI3 GLI family zinc finger 3 ISO mRNA:decreased expression:rectum
mRNA:decreased expression:terminal rectum 		RGD PMID:25213187 PMID:27079746 RGD:12743602 RGD:155791683 NCBI chr18:52,403,463...52,697,906
Ensembl chr18:52,404,072...52,697,900 		JBrowse link
G HOXA13 homeobox A13 ISO mRNA:decreased expression:hindgut
mRNA:decreased expression:rectum		 RGD PMID:17161201 PMID:27079746 RGD:12743602 RGD:1599527 NCBI chr18:45,373,340...45,379,046
Ensembl chr18:45,373,440...45,376,325 		JBrowse link
G HOXD13 homeobox D13 ISO mRNA:decreased expression:rectum
mRNA:decreased expression:hindgut		 RGD PMID:17161201 PMID:27079746 RGD:12743602 RGD:1599527 NCBI chr15:81,893,997...81,897,965
Ensembl chr15:81,893,972...81,896,944 		JBrowse link
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Anorectal stenosis ClinVar PMID:10405444 PMID:17334363 PMID:18691967 PMID:18805826 PMID:18973276 More... NCBI chr  X:57,150,884...57,174,367
Ensembl chr  X:57,150,919...57,175,333 		JBrowse link
G PCSK5 proprotein convertase subtilisin/kexin type 5 ISO protein:decreased expression:somite RGD PMID:21480163 RGD:11556204 NCBI chr 1:228,854,587...229,308,054
Ensembl chr 1:228,854,595...229,308,906 		JBrowse link
G SHH sonic hedgehog signaling molecule severity ISO mRNA:decreased expression:hindgut
mRNA, protein:decreased expression:rectum
DNA, protein:hypermethylation, decreased expression:promoter, rectum		 RGD PMID:17161201 PMID:20146882 PMID:25148746 RGD:12798569 RGD:12798571 RGD:1599527 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,994...2,555,484 		JBrowse link
Barrett's esophagus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASCC1 activating signal cointegrator 1 complex subunit 1 ISO ClinVar Annotator: match by term: Barrett esophagus | ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma OMIM
ClinVar		 PMID:21791690 PMID:25741868 PMID:28492532 NCBI chr14:74,975,163...75,109,283
Ensembl chr14:74,975,165...75,083,634 		JBrowse link
G B3GAT2 beta-1,3-glucuronyltransferase 2 ISO DNA:hypermethylation:esophageal squamous epithelium RGD PMID:26545406 RGD:11552890 NCBI chr 1:50,941,967...51,041,586
Ensembl chr 1:50,938,251...51,041,583 		JBrowse link
G BECN1 beclin 1 disease_progression ISO RGD PMID:22301112 RGD:11561943 NCBI chr12:20,041,914...20,054,249
Ensembl chr12:20,041,956...20,054,373 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO protein:increased expression:esophagus: RGD PMID:17570215 RGD:8699511 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637 		JBrowse link
G CDH13 cadherin 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18729198 NCBI chr 6:4,809,752...5,832,188
Ensembl chr 6:4,808,255...5,832,415 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression:nucleus of esophagus mucosa: RGD PMID:11753681 RGD:8662398 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761 		JBrowse link
G CDX2 caudal type homeobox 2 disease_progression ISO RGD PMID:23011828 RGD:7349348 NCBI chr11:5,339,727...5,346,081
Ensembl chr11:5,339,716...5,346,057 		JBrowse link
G CTHRC1 collagen triple helix repeat containing 1 ISO ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma OMIM
ClinVar		 PMID:21791690 NCBI chr 4:33,759,541...33,771,625
Ensembl chr 4:33,759,542...33,771,582 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861 		JBrowse link
G CYP26A1 cytochrome P450 family 26 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18059332 NCBI chr14:104,561,394...104,567,099
Ensembl chr14:104,563,195...104,567,095 		JBrowse link
G FAS Fas cell surface death receptor severity ISO RGD PMID:10821489 RGD:12903968 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716 		JBrowse link
G FOXP1 forkhead box P1 ISO DNA:snp:enhancer:g.70879779A>C (rs2687201) (human) RGD PMID:25447851 RGD:11560527 NCBI chr13:52,346,844...52,974,358
Ensembl chr13:52,348,234...52,876,892 		JBrowse link
G GAST gastrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr12:20,953,202...20,955,434
Ensembl chr12:20,953,202...20,955,434 		JBrowse link
G GATA6 GATA binding protein 6 disease_progression ISO protein:increased expression: esophagus squamous epithelium (human) RGD PMID:25445407 RGD:13208870 NCBI chr 6:107,282,709...107,314,725
Ensembl chr 6:107,282,849...107,314,626 		JBrowse link
G GPX3 glutathione peroxidase 3 ISO DNA:hypermethylation:promoter RGD PMID:18664505 RGD:151665749 NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026 		JBrowse link
G GPX7 glutathione peroxidase 7 ISO DNA:hypermethylation:promoter RGD PMID:18664505 RGD:151665749 NCBI chr 6:159,590,479...159,598,768
Ensembl chr 6:159,590,482...159,599,293 		JBrowse link
G HGF hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO associated with Aneuploidy; protein:increased expression:serum: RGD PMID:18006928 RGD:12743582 NCBI chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690 		JBrowse link
G MCL1 MCL1 apoptosis regulator, BCL2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127259 NCBI chr 4:98,562,092...98,567,014
Ensembl chr 4:98,534,812...98,567,006 		JBrowse link
G MIR145 microRNA mir-145 ISO miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr 2:150,580,126...150,580,211
Ensembl chr 2:150,580,126...150,580,211 		JBrowse link
G MIR181A-1 microRNA mir-181a-1 ISO miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr10:21,696,653...21,696,756
Ensembl chr10:21,696,653...21,696,756 		JBrowse link
G MIR196A-2 microRNA mir-196a-2 ISO miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr 5:19,204,442...19,204,548
Ensembl chr 5:19,204,442...19,204,548 		JBrowse link
G MIR199A-2 microRNA mir-199a-2 ISO miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr 2:69,558,051...69,558,130
Ensembl chr 2:69,558,050...69,558,131 		JBrowse link
G MIR199B microRNA mir-199b ISO miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr 1:268,691,520...268,691,593
Ensembl chr 1:268,691,502...268,691,610 		JBrowse link
G MIR30A microRNA mir-30a ISO miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr 1:51,412,827...51,412,933
Ensembl chr 1:51,412,827...51,412,933 		JBrowse link
G MKI67 marker of proliferation Ki-67 severity ISO RGD PMID:22147251 RGD:6483521 NCBI chr14:137,266,622...137,296,312 JBrowse link
G MMP1 matrix metallopeptidase 1 ISO DNA:insertion:promoter:g.-1607insG (rs1799750) (human) RGD PMID:19321798 RGD:7207058 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076 		JBrowse link
G MMP12 matrix metallopeptidase 12 ISO DNA:snp:promoter:g.-82A>G rs2276109 (human) RGD PMID:19321798 RGD:7207058 NCBI chr 9:33,473,625...33,483,630
Ensembl chr 9:33,473,093...33,483,679 		JBrowse link
G MSR1 macrophage scavenger receptor 1 ISO ClinVar Annotator: match by term: Barrett esophagus | ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma | ClinVar Annotator: match by term: Barrett's esophagus OMIM
ClinVar		 PMID:12244320 PMID:12958598 PMID:21791690 PMID:24082139 PMID:25333069 More... NCBI chr17:3,859,903...3,939,612
Ensembl chr17:3,859,692...3,939,726 		JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming disease_progression ISO RGD PMID:23011828 RGD:7349348 NCBI chr 2:689,363...719,542
Ensembl chr 2:689,364...710,330 		JBrowse link
G NR1I2 nuclear receptor subfamily 1 group I member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21977915 NCBI chr13:140,373,571...140,406,129
Ensembl chr13:140,364,075...140,406,112 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,322...68,433,944 		JBrowse link
G PTGES prostaglandin E synthase ISO mRNA:increased expression:esophagus RGD PMID:14684572 RGD:2300107 NCBI chr 1:269,911,785...269,924,481
Ensembl chr 1:269,911,789...269,924,462 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression ISO mRNA: increased expression: Esophagus
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:11059772 PMID:12105834 PMID:15387324 PMID:17244951 PMID:17675820 More... RGD:13207438 RGD:1642603 RGD:7349348 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469 		JBrowse link
G RPRM reprimo, TP53 dependent G2 arrest mediator homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121882 NCBI chr15:61,140,687...61,143,397
Ensembl chr15:61,140,688...61,142,607 		JBrowse link
G SLC9A1 solute carrier family 9 member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127259 NCBI chr 6:84,373,921...84,426,447
Ensembl chr 6:84,372,649...84,426,997 		JBrowse link
G SMO smoothened, frizzled class receptor treatment ISO RGD PMID:23108119 RGD:150340553 NCBI chr18:19,450,730...19,478,796
Ensembl chr18:19,450,743...19,478,898 		JBrowse link
G SST somatostatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17999418 NCBI chr13:125,337,560...125,338,742
Ensembl chr13:125,337,418...125,338,850 		JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human) RGD PMID:25910066 RGD:11055189 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475 		JBrowse link
biliary atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21356120 RGD:5686894 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646 		JBrowse link
G CD14 CD14 molecule disease_progression ISO mRNA, protein:increased expression:liver, plasma: RGD PMID:21172039 RGD:7184431 NCBI chr 2:142,348,036...142,349,686
Ensembl chr 2:142,346,360...142,349,581 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO protein:increased expression:serum (human) RGD PMID:24493287 RGD:26884361 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861 		JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 ISO RGD PMID:14743499 RGD:1625622 NCBI chr 7:121,565,844...121,577,493
Ensembl chr 7:121,565,854...121,576,654 		JBrowse link
G GLI2 GLI family zinc finger 2 disease_progression ISO RGD PMID:25746691 RGD:12802349 NCBI chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306 		JBrowse link
G HAMP hepcidin antimicrobial peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:16627878 NCBI chr 6:44,785,863...44,787,303
Ensembl chr 6:44,784,160...44,787,305 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 susceptibility ISO DNA:missense mutation:cds:p.G241R (human) RGD PMID:18401716 RGD:14402043 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205 		JBrowse link
G IL18 interleukin 18 susceptibility ISO protein:increased expression:serum:
DNA:SNPs, haplotype:promoter:rs187238,rs1946518(human)		 RGD PMID:10726686 PMID:30059753 RGD:14695528 RGD:14695529 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219 		JBrowse link
G MIR145 microRNA mir-145 ISO miRNA:decreased expression:liver (human) RGD PMID:28902846 RGD:15039396 NCBI chr 2:150,580,126...150,580,211
Ensembl chr 2:150,580,126...150,580,211 		JBrowse link
G MIR155 microRNA mir-155 ISO miRNA:increased expression:liver RGD PMID:27817193 PMID:28355202 RGD:24922206 RGD:25671379 NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902 		JBrowse link
G PTEN phosphatase and tensin homolog ISO mRNA:decreased expression:liver (human) RGD PMID:25487473 RGD:12832754 NCBI chr14:99,929,590...100,021,619 JBrowse link
G SHH sonic hedgehog signaling molecule disease_progression ISO RGD PMID:25746691 RGD:12802349 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,994...2,555,484 		JBrowse link
G SOX17 SRY-box transcription factor 17 ISO MouseDO NCBI chr 4:76,854,218...76,857,143
Ensembl chr 4:76,854,150...76,857,148 		JBrowse link
G SPINT1 serine peptidase inhibitor, Kunitz type 1 disease_progression ISO mRNA,protein:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 1:130,458,909...130,473,791
Ensembl chr 1:130,458,909...130,473,783 		JBrowse link
G SPINT2 serine peptidase inhibitor, Kunitz type 2 ISO mRNA,protein:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 6:47,181,772...47,210,564
Ensembl chr 6:47,181,768...47,210,559 		JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:15845635 RGD:1581370 NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340 		JBrowse link
G TGFB1 transforming growth factor beta 1 treatment ISO RGD PMID:30686515 RGD:14985228 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046 		JBrowse link
Burn-McKeown syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADNP2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 6:128,071,503...128,113,292
Ensembl chr 6:128,030,715...128,113,288 		JBrowse link
G ATP9B ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:146,022,975...146,228,847
Ensembl chr 1:146,022,978...146,221,769 		JBrowse link
G CTDP1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:145,769,763...145,811,673
Ensembl chr 1:145,769,771...145,811,678 		JBrowse link
G GALR1 galanin receptor 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:147,442,977...147,466,731
Ensembl chr 1:147,443,821...147,463,542 		JBrowse link
G HSBP1L1 heat shock factor binding protein 1 like 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 6:127,960,330...127,972,241
Ensembl chr 6:127,960,266...127,973,191 		JBrowse link
G KCNG2 potassium voltage-gated channel modifier subfamily G member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 6:127,830,032...127,891,294
Ensembl chr 6:127,866,238...127,891,916 		JBrowse link
G MBP myelin basic protein ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:147,649,516...147,685,289
Ensembl chr 1:147,590,865...147,685,290 		JBrowse link
G NFATC1 nuclear factor of activated T cells 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:145,940,099...146,002,897
Ensembl chr 1:145,911,046...146,008,139 		JBrowse link
G PARD6G par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 6:128,161,610...128,250,708
Ensembl chr 6:128,162,600...128,250,663 		JBrowse link
G RBFA ribosome binding factor A ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 6:128,030,397...128,048,061
Ensembl chr 6:128,030,723...128,053,494 		JBrowse link
G SALL3 spalt like transcription factor 3 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:146,251,591...146,273,778
Ensembl chr 1:146,252,155...146,273,906 		JBrowse link
G SLC66A2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 6:127,894,111...127,952,268
Ensembl chr 6:127,894,111...127,952,225 		JBrowse link
G TXNL4A thioredoxin like 4A ISO ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome OMIM
ClinVar		 PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More... NCBI chr 6:127,975,164...127,991,112
Ensembl chr 6:127,974,543...127,991,177 		JBrowse link
G ZNF236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:147,690,545...147,782,162
Ensembl chr 1:147,690,556...147,782,129 		JBrowse link
G ZNF516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:147,987,660...148,100,788
Ensembl chr 1:147,984,481...148,087,719 		JBrowse link
Caroli disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANGPT2 angiopoietin 2 ISO protein:increased expression:bile duct (rat) RGD PMID:16628643 RGD:2314213 NCBI chr15:37,544,177...37,600,925
Ensembl chr15:37,544,707...37,599,041 		JBrowse link
G IFT56 intraflagellar transport 56 ISO ClinVar Annotator: match by term: Caroli disease ClinVar PMID:25741868 PMID:31595528 PMID:32617964 NCBI chr18:10,462,670...10,509,595
Ensembl chr18:10,462,669...10,509,565 		JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Caroli disease ClinVar PMID:1189128 PMID:11898128 PMID:12846734 PMID:12874454 PMID:15108277 More... NCBI chr 7:45,447,354...45,925,141
Ensembl chr 7:45,450,950...45,925,149 		JBrowse link
G WDR19 WD repeat domain 19 ISO associated with Nephronophthisis 13;DNA:missense mutations:cds:multiple (human) RGD PMID:25726036 RGD:11528287 NCBI chr 8:30,453,969...30,553,699
Ensembl chr 8:30,463,862...30,553,703 		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 1:236,380,572...236,383,671
Ensembl chr 1:236,380,577...236,383,666 		JBrowse link
choledochal cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP1 aquaporin 1 (Colton blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr18:42,063,482...42,076,741
Ensembl chr18:42,063,485...42,076,746 		JBrowse link
G CFTR CF transmembrane conductance regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950 		JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO DNA:deletion:exon:
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:15830394 PMID:18988797 RGD:14700991 NCBI chr 7:45,447,354...45,925,141
Ensembl chr 7:45,450,950...45,925,149 		JBrowse link
G SCT secretin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 2:382,783...385,082
Ensembl chr 2:383,799...384,841 		JBrowse link
G SLC4A2 solute carrier family 4 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr18:6,149,459...6,166,622
Ensembl chr18:6,149,459...6,165,212 		JBrowse link
Currarino syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC5 ATP binding cassette subfamily C member 5 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:121,868,614...121,957,901
Ensembl chr13:121,869,600...121,926,071 		JBrowse link
G ABCF3 ATP binding cassette subfamily F member 3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,102,939...122,112,896
Ensembl chr13:122,105,344...122,113,559 		JBrowse link
G ACTL6A actin like 6A ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:117,598,415...117,627,311
Ensembl chr13:117,598,496...117,628,488 		JBrowse link
G ALG3 ALG3 alpha-1,3- mannosyltransferase ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,142,044...122,148,777
Ensembl chr13:122,141,967...122,148,206 		JBrowse link
G ALG3 ALG3 alpha-1,3- mannosyltransferase ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,156,080...122,158,396
Ensembl chr13:122,156,041...122,158,367 		JBrowse link
G AP2M1 adaptor related protein complex 2 subunit mu 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,094,375...122,103,408
Ensembl chr13:122,094,437...122,104,802 		JBrowse link
G ATP11B ATPase phospholipid transporting 11B (putative) ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:120,727,633...120,873,907
Ensembl chr13:120,727,608...120,873,930 		JBrowse link
G B3GNT5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:121,205,070...121,222,997
Ensembl chr13:121,206,550...121,223,922 		JBrowse link
G C13H3orf70 chromosome 13 C3orf70 homolog ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,958,339...123,058,988
Ensembl chr13:122,958,347...123,058,655 		JBrowse link
G CCDC39 coiled-coil domain 39 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:118,623,787...118,773,205
Ensembl chr13:118,626,330...118,682,281 		JBrowse link
G CHRD chordin ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,266,632...122,277,513
Ensembl chr13:122,266,626...122,277,645 		JBrowse link
G CLCN2 chloride voltage-gated channel 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,234,731...122,249,889
Ensembl chr13:122,234,736...122,249,867 		JBrowse link
G DCUN1D1 defective in cullin neddylation 1 domain containing 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:120,914,001...120,950,825 JBrowse link
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:118,907,299...118,913,270
Ensembl chr13:118,902,666...118,913,270 		JBrowse link
G DVL3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,075,851...122,092,975
Ensembl chr13:122,076,003...122,092,971 		JBrowse link
G ECE2 endothelin converting enzyme 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,148,928...122,179,522
Ensembl chr13:122,165,152...122,179,498
Ensembl chr13:122,165,152...122,179,498 		JBrowse link
G EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:123,104,085...123,162,119
Ensembl chr13:123,104,101...123,176,086 		JBrowse link
G EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,060,408...122,070,327
Ensembl chr13:122,060,473...122,070,304 		JBrowse link
G EIF4G1 eukaryotic translation initiation factor 4 gamma 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,203,488...122,225,371
Ensembl chr13:122,203,508...122,225,360 		JBrowse link
G EPHB3 EPH receptor B3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,467,561...122,488,296
Ensembl chr13:122,467,588...122,488,292 		JBrowse link
G FAM131A family with sequence similarity 131 member A ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,225,519...122,234,810
Ensembl chr13:122,225,956...122,234,810 		JBrowse link
G FXR1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:118,839,314...118,899,804
Ensembl chr13:118,839,338...118,900,136 		JBrowse link
G GNB4 G protein subunit beta 4 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:117,442,594...117,513,387
Ensembl chr13:117,436,673...117,513,392 		JBrowse link
G IGF2BP2 insulin like growth factor 2 mRNA binding protein 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:123,485,619...123,650,050
Ensembl chr13:123,485,628...123,650,039 		JBrowse link
G KCNMB2 potassium calcium-activated channel subfamily M regulatory beta subunit 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:116,745,204...116,999,300
Ensembl chr13:116,969,591...116,998,200 		JBrowse link
G KCNMB3 potassium calcium-activated channel subfamily M regulatory beta subunit 3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:117,283,505...117,370,306
Ensembl chr13:117,283,631...117,309,863 		JBrowse link
G KLHL24 kelch like family member 24 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:121,564,833...121,608,146
Ensembl chr13:121,570,591...121,608,139 		JBrowse link
G KLHL6 kelch like family member 6 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:121,426,618...121,487,260 JBrowse link
G LAMP3 lysosomal associated membrane protein 3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:121,081,717...121,117,660 JBrowse link
G LINC02054 long intergenic non-protein coding RNA 2054 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,319,988...122,332,332 JBrowse link
G LIPH lipase H ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:123,372,909...123,419,505
Ensembl chr13:123,371,860...123,419,434 		JBrowse link
G LOC100156142 5-hydroxytryptamine receptor 3D-like ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:121,969,190...121,977,096
Ensembl chr13:121,969,656...121,975,217 		JBrowse link
G LOC102163598 5-hydroxytryptamine receptor 3C-like ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:121,987,063...121,995,297
Ensembl chr13:121,988,806...121,994,463 		JBrowse link
G MAGEF1 MAGE family member F1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,600,984...122,602,700
Ensembl chr13:122,598,928...122,602,646 		JBrowse link
G MAP3K13 mitogen-activated protein kinase kinase kinase 13 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:123,176,077...123,357,551
Ensembl chr13:123,176,188...123,352,775 		JBrowse link
G MAP6D1 MAP6 domain containing 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:121,738,392...121,755,482
Ensembl chr13:121,748,648...121,755,445 		JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:120,983,226...121,070,695
Ensembl chr13:120,915,730...121,106,395 		JBrowse link
G MCF2L2 MCF.2 cell line derived transforming sequence-like 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:121,130,924...121,378,371
Ensembl chr13:121,132,948...121,378,371 		JBrowse link
G MFN1 mitofusin 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:117,404,637...117,441,750
Ensembl chr13:117,404,699...117,442,481 		JBrowse link
G MIR1224 microRNA mir-1224 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,141,042...122,141,149
Ensembl chr13:122,141,042...122,141,149 		JBrowse link
G MNX1 motor neuron and pancreas homeobox 1 ISO ClinVar Annotator: match by term: Currarino triad OMIM
ClinVar		 PMID:7550324 PMID:9843207 PMID:10631160 PMID:10749657 PMID:11528505 More... NCBI chr18:1,724,930...1,730,724
Ensembl chr18:1,725,244...1,730,878 		JBrowse link
G MRPL47 mitochondrial ribosomal protein L47 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:117,626,846...117,656,388
Ensembl chr13:117,625,330...117,656,389 		JBrowse link
G NDUFB5 NADH:ubiquinone oxidoreductase subunit B5 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:117,656,411...117,671,515
Ensembl chr13:117,656,503...117,678,509 		JBrowse link
G PARL presenilin associated rhomboid like ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:121,758,734...121,813,679
Ensembl chr13:121,758,738...121,813,638 		JBrowse link
G PCSK5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:228,854,587...229,308,054
Ensembl chr 1:228,854,595...229,308,906 		JBrowse link
G PEX5L peroxisomal biogenesis factor 5 like ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:117,832,199...118,088,383
Ensembl chr13:117,833,705...118,088,277 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587 		JBrowse link
G POLR2H RNA polymerase II, I and III subunit H ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,250,087...122,256,201
Ensembl chr13:122,250,020...122,256,195 		JBrowse link
G PSMD2 proteasome 26S subunit ubiquitin receptor, non-ATPase 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,187,500...122,199,397
Ensembl chr13:122,187,466...122,199,400 		JBrowse link
G SENP2 SUMO specific peptidase 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:123,429,915...123,469,913
Ensembl chr13:123,429,995...123,471,926 		JBrowse link
G SOX2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:119,668,476...119,669,435
Ensembl chr13:119,668,476...119,669,435 		JBrowse link
G THPO thrombopoietin ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,259,654...122,267,860
Ensembl chr13:122,260,215...122,267,860 		JBrowse link
G TMEM41A transmembrane protein 41A ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:123,356,438...123,365,206
Ensembl chr13:123,356,438...123,365,209 		JBrowse link
G TTC14 tetratricopeptide repeat domain 14 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:118,614,392...118,638,229
Ensembl chr13:118,614,424...118,638,223 		JBrowse link
G USP13 ubiquitin specific peptidase 13 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:117,700,080...117,826,951
Ensembl chr13:117,700,119...117,826,944 		JBrowse link
G VPS8 VPS8 subunit of CORVET complex ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,693,681...122,953,625
Ensembl chr13:122,693,760...122,950,420 		JBrowse link
G YEATS2 YEATS domain containing 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:121,637,823...121,746,131
Ensembl chr13:121,637,874...121,746,122 		JBrowse link
G ZMAT3 zinc finger matrin-type 3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:117,113,272...117,147,639
Ensembl chr13:117,117,626...117,147,604 		JBrowse link
G ZNF639 zinc finger protein 639 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:117,370,496...117,384,046
Ensembl chr13:117,370,544...117,384,041 		JBrowse link
diaphragmatic eventration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Diaphragmatic eventration ClinVar PMID:25741868 PMID:26619011 PMID:27631024 PMID:28492532 PMID:31568861 NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587 		JBrowse link
duodenal atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH1A2 aldehyde dehydrogenase 1 family member A2 severity ISO mRNA:decreased expression:duodenum RGD PMID:21492869 PMID:23021139 RGD:14367881 RGD:14367883 NCBI chr 1:113,932,722...114,037,059
Ensembl chr 1:113,932,739...114,037,046 		JBrowse link
G CFTR CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Duodenal stenosis ClinVar PMID:1370875 PMID:1377276 PMID:1379413 PMID:1380673 PMID:1381146 More... NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO RGD PMID:15185216 RGD:12801491 NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425 		JBrowse link
G GUCY2C guanylate cyclase 2C ISO ClinVar Annotator: match by term: Duodenal atresia ClinVar NCBI chr 5:57,780,484...57,902,475
Ensembl chr 5:57,822,563...57,902,467 		JBrowse link
esophageal atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMBRA1 autophagy and beclin 1 regulator 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:15,935,354...16,119,082
Ensembl chr 2:15,935,375...16,119,079 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 6:49,905,851...49,927,437
Ensembl chr 6:49,905,847...49,927,633 		JBrowse link
G ATP6V0A1 ATPase H+ transporting V0 subunit a1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr12:20,288,409...20,344,142
Ensembl chr12:20,288,411...20,344,127 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 5:69,016,954...69,448,428
Ensembl chr 5:69,275,176...69,448,430 		JBrowse link
G CDC27 cell division cycle 27 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr12:16,810,868...16,882,271
Ensembl chr12:16,810,910...16,882,269 		JBrowse link
G CMIP c-Maf inducing protein ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 6:6,653,237...6,881,874
Ensembl chr 6:6,654,411...6,881,813 		JBrowse link
G DISP1 dispatched RND transporter family member 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:25741868 NCBI chr10:11,526,353...11,709,888
Ensembl chr10:11,526,619...11,709,888 		JBrowse link
G DROSHA drosha ribonuclease III ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr16:17,727,695...17,847,954
Ensembl chr16:17,565,137...17,848,162 		JBrowse link
G DSCAM DS cell adhesion molecule ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr13:203,566,765...204,292,079
Ensembl chr13:203,567,129...204,313,820 		JBrowse link
G DST dystonin ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 7:28,812,423...29,300,149
Ensembl chr 7:28,812,252...29,300,152 		JBrowse link
G EFTUD2 elongation factor Tu GTP binding domain containing 2 ISO DNA:mutations:multiple (human) RGD PMID:23188108 RGD:10045556 NCBI chr12:18,474,367...18,514,993
Ensembl chr12:18,474,097...18,517,479 		JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr16:61,441,622...61,543,375
Ensembl chr16:61,441,632...61,543,361 		JBrowse link
G HOXC4 homeobox C4 ISO mRNA:decreased expression:lung (mouse) RGD PMID:17211587 RGD:10402180 NCBI chr 5:19,250,411...19,268,267
Ensembl chr 5:19,265,081...19,268,257 		JBrowse link
G IGSF3 immunoglobulin superfamily member 3 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 4:104,044,784...104,167,173
Ensembl chr 4:103,994,390...104,166,988 		JBrowse link
G INSR insulin receptor ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:71,797,209...71,939,923
Ensembl chr 2:71,797,204...71,936,104 		JBrowse link
G ITGB1 integrin subunit beta 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr10:56,078,393...56,130,608
Ensembl chr10:56,078,396...56,173,326 		JBrowse link
G KCNA6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 5:65,625,581...65,659,557
Ensembl chr 5:65,657,225...65,658,835 		JBrowse link
G LOC100152206 C2 calcium-dependent domain-containing protein 4A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 1:109,920,142...109,927,760 JBrowse link
G MID2 midline 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:88,294,032...88,394,885
Ensembl chr  X:88,294,067...88,393,742 		JBrowse link
G NAGS N-acetylglutamate synthase ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr12:19,170,398...19,173,968
Ensembl chr12:19,169,961...19,174,747 		JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar
G PDE4D phosphodiesterase 4D ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr16:37,897,300...39,406,534
Ensembl chr16:37,897,302...39,306,364 		JBrowse link
G PLK2 polo like kinase 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr16:37,299,116...37,305,114
Ensembl chr16:37,299,119...37,305,114 		JBrowse link
G RPGR retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:34,238,961...34,522,814
Ensembl chr  X:34,228,124...34,296,589 		JBrowse link
G SIPA1 signal-induced proliferation-associated 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:6,606,613...6,618,556
Ensembl chr 2:6,606,626...6,618,566 		JBrowse link
G STAT5A signal transducer and activator of transcription 5A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr12:20,474,221...20,498,785
Ensembl chr12:20,474,227...20,499,138 		JBrowse link
G TCF4 transcription factor 4 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:28492532 NCBI chr 1:104,718,809...105,079,919
Ensembl chr 1:104,719,151...105,079,919 		JBrowse link
G TENM2 teneurin transmembrane protein 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr16:55,624,273...59,084,150
Ensembl chr16:55,625,320...56,620,257 		JBrowse link
G TENT5A terminal nucleotidyltransferase 5A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 1:84,545,033...84,552,138
Ensembl chr 1:84,545,202...84,552,134 		JBrowse link
G TERT telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421 		JBrowse link
G WDR13 WD repeat domain 13 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:42,715,097...42,730,200
Ensembl chr  X:42,722,730...42,730,199 		JBrowse link
esophageal atresia/tracheoesophageal fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:8673090 PMID:8988179 PMID:9150172 PMID:9667259 PMID:9792861 More... NCBI chr11:8,805,950...8,858,128
Ensembl chr11:8,805,953...8,858,418 		JBrowse link
G BRIP1 BRCA1 interacting helicase 1 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:2455662 PMID:3375802 PMID:16116421 PMID:16116423 PMID:16116424 More... NCBI chr12:36,498,138...36,639,847
Ensembl chr12:36,498,205...36,635,973 		JBrowse link
G GLI2 GLI family zinc finger 2 ISO RGD PMID:12947339 RGD:12801415 NCBI chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306 		JBrowse link
G NOG noggin ISO OMIM:189960 RGD
MouseDO		 PMID:17260385 RGD:12801454 NCBI chr12:32,891,321...32,892,206
Ensembl chr12:32,891,321...32,892,206 		JBrowse link
G SCLT1 sodium channel and clathrin linker 1 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:95,949,460...96,199,116
Ensembl chr 8:95,949,572...96,199,110 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:25003913 RGD:12801416 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,994...2,555,484 		JBrowse link
FG syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASK calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: FG syndrome ClinVar PMID:25741868 NCBI chr  X:37,166,973...37,535,723
Ensembl chr  X:37,167,577...37,536,160 		JBrowse link
G FLNA filamin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632775 NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: FG syndrome | ClinVar Annotator: match by term: Keller syndrome | ClinVar Annotator: match by term: Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum | ClinVar Annotator: match by term: Opitz-Kaveggia syndrome ClinVar PMID:6711603 PMID:8279489 PMID:9536098 PMID:10405444 PMID:10982179 More... NCBI chr  X:57,150,884...57,174,367
Ensembl chr  X:57,150,919...57,175,333 		JBrowse link
FG Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXHXorf65 chromosome X CXorf65 homolog ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:57,139,975...57,143,070
Ensembl chr  X:57,140,831...57,143,151 		JBrowse link
G FOXO4 forkhead box O4 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:57,132,549...57,140,377
Ensembl chr  X:57,132,548...57,140,356 		JBrowse link
G GJB1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:57,241,990...57,249,496
Ensembl chr  X:57,242,045...57,249,885 		JBrowse link
G IL2RG interleukin 2 receptor subunit gamma ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:57,143,568...57,151,242
Ensembl chr  X:57,143,570...57,147,256 		JBrowse link
G ITGB1BP2 integrin subunit beta 1 binding protein 2 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:57,316,490...57,321,614
Ensembl chr  X:57,316,471...57,325,096 		JBrowse link
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: FG syndrome 1 OMIM
ClinVar		 PMID:6711603 PMID:8279489 PMID:9286458 PMID:9536098 PMID:10405444 More... NCBI chr  X:57,150,884...57,174,367
Ensembl chr  X:57,150,919...57,175,333 		JBrowse link
G NLGN3 neuroligin 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:57,174,506...57,204,770
Ensembl chr  X:57,176,103...57,201,461 		JBrowse link
G SLC7A3 solute carrier family 7 member 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:56,937,081...56,942,331
Ensembl chr  X:56,937,086...56,942,357 		JBrowse link
G SNX12 sorting nexin 12 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:57,099,521...57,108,636
Ensembl chr  X:57,089,136...57,108,750 		JBrowse link
G TAF1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:57,382,211...57,466,700
Ensembl chr  X:57,382,354...57,466,697 		JBrowse link
G TEX11 testis expressed 11 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:56,543,933...56,925,104
Ensembl chr  X:56,544,560...56,925,779 		JBrowse link
G ZMYM3 zinc finger MYM-type containing 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:57,261,923...57,279,427
Ensembl chr  X:57,261,924...57,278,495 		JBrowse link
FG Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A ISO ClinVar Annotator: match by term: FG syndrome 2 OMIM
ClinVar		 PMID:10982489 PMID:12612583 PMID:16299064 PMID:16417552 PMID:16822260 More... NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
FG Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASK calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: CASK-Related Disorder | ClinVar Annotator: match by term: FG syndrome 4 OMIM
ClinVar		 PMID:18414213 PMID:19165920 PMID:19200522 PMID:19377476 PMID:20029458 More... NCBI chr  X:37,166,973...37,535,723
Ensembl chr  X:37,167,577...37,536,160 		JBrowse link
Gastrointestinal Defects and Immunodeficiency Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PI4KA phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome 2 OMIM
ClinVar		 PMID:34415310 NCBI chr14:50,390,416...50,491,983
Ensembl chr14:50,390,410...50,491,944 		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 6:63,579,291...63,593,429
Ensembl chr 6:63,579,304...63,593,435 		JBrowse link
G ACTRT2 actin related protein T2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:64,664,484...64,665,774
Ensembl chr 6:64,664,641...64,665,774 		JBrowse link
G AGRN agrin ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:63,366,017...63,398,311
Ensembl chr 6:63,365,983...63,398,309 		JBrowse link
G ANKRD65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:63,678,757...63,686,409 JBrowse link
G AURKAIP1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:63,656,120...63,657,568
Ensembl chr 6:63,656,119...63,657,472 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:63,540,066...63,541,962
Ensembl chr 6:63,540,141...63,541,112 		JBrowse link
G C1QTNF12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:63,548,862...63,555,991
Ensembl chr 6:63,548,864...63,553,332 		JBrowse link
G CALML6 calmodulin like 6 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:63,970,359...63,971,973 JBrowse link
G CCNL2 cyclin L2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:63,659,053...63,668,077
Ensembl chr 6:63,659,054...63,668,047 		JBrowse link
G CDK11 cyclin dependent kinase 11 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:63,804,914...63,819,960 JBrowse link
G CFAP74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:63,976,011...64,038,899
Ensembl chr 6:63,976,346...64,024,562 		JBrowse link
G CPTP ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:63,607,991...63,612,325 JBrowse link
G DVL1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:63,617,787...63,628,965
Ensembl chr 6:63,617,789...63,628,913 		JBrowse link
G FAAP20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:64,160,760...64,169,663 JBrowse link
G FNDC10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:63,762,059...63,765,483
Ensembl chr 6:63,764,815...63,765,483 		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 6:64,049,665...64,059,644
Ensembl chr 6:64,049,675...64,059,640 		JBrowse link
G GNB1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:63,867,155...63,957,514
Ensembl chr 6:63,867,158...63,952,505 		JBrowse link
G HES5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:64,409,110...64,410,541
Ensembl chr 6:64,408,956...64,410,881 		JBrowse link
G INTS11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:63,596,809...63,607,915
Ensembl chr 6:63,596,803...63,607,921 		JBrowse link
G KIFBP kinesin family binding protein ISO ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome | ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome OMIM
ClinVar		 PMID:15883926 PMID:18414213 PMID:23427148 PMID:24072599 PMID:24901346 More... NCBI chr14:72,071,879...72,099,800
Ensembl chr14:72,069,395...72,099,211 		JBrowse link
G LOC100525876 ATPase family AAA domain-containing protein 3 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:63,706,155...63,721,574
Ensembl chr 6:63,701,460...63,721,573 		JBrowse link
G LOC100624218 MORN repeat-containing protein 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:64,266,184...64,300,980
Ensembl chr 6:64,253,268...64,300,897 		JBrowse link
G MIB2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:63,787,200...63,800,425
Ensembl chr 6:63,787,201...63,800,423 		JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:64,436,778...64,470,888
Ensembl chr 6:64,436,642...64,472,759 		JBrowse link
G MMP23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:63,801,668...63,804,275
Ensembl chr 6:63,801,965...63,805,046 		JBrowse link
G MRPL20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:63,670,750...63,675,834
Ensembl chr 6:63,670,755...63,675,839 		JBrowse link
G MXRA8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:63,630,936...63,635,623
Ensembl chr 6:63,630,938...63,635,456 		JBrowse link
G NADK NAD kinase ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:63,846,650...63,864,137
Ensembl chr 6:63,846,655...63,863,946 		JBrowse link
G NEK9 NIMA related kinase 9 ISO ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome ClinVar PMID:25741868 NCBI chr 7:98,275,973...98,322,072
Ensembl chr 7:98,275,979...98,322,055 		JBrowse link
G PANK4 pantothenate kinase 4 (inactive) ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:64,393,092...64,407,443
Ensembl chr 6:64,393,102...64,407,448 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:64,311,743...64,317,693 JBrowse link
G PLCH2 phospholipase C eta 2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:64,325,918...64,392,070
Ensembl chr 6:64,325,952...64,392,068 		JBrowse link
G PRKCZ protein kinase C zeta ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:64,073,343...64,159,187
Ensembl chr 6:64,068,577...64,163,472 		JBrowse link
G PRXL2B peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:64,432,187...64,435,328
Ensembl chr 6:64,432,148...64,435,320 		JBrowse link
G PUSL1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:63,593,539...63,596,921
Ensembl chr 6:63,593,959...63,599,019 		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 6:64,301,139...64,311,526
Ensembl chr 6:64,301,199...64,311,783 		JBrowse link
G RNF223 ring finger protein 223 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:63,413,080...63,445,277
Ensembl chr 6:63,413,086...63,414,357 		JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:63,568,171...63,578,623 JBrowse link
G SDF4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:63,529,853...63,539,979
Ensembl chr 6:63,529,853...63,544,944 		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 6:64,188,265...64,242,596
Ensembl chr 6:64,188,236...64,242,560 		JBrowse link
G SLC35E2 solute carrier family 35 member E2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:63,820,804...63,842,400
Ensembl chr 6:63,820,812...63,835,561 		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 6:63,728,318...63,757,460
Ensembl chr 6:63,728,325...63,755,163 		JBrowse link
G TAS1R3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:63,613,536...63,617,831
Ensembl chr 6:63,607,990...63,617,809 		JBrowse link
G TMEM240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:63,721,655...63,727,457
Ensembl chr 6:63,721,656...63,727,526 		JBrowse link
G TMEM52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:63,969,438...63,974,312
Ensembl chr 6:63,969,440...63,974,286 		JBrowse link
G TMEM88B transmembrane protein 88B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:63,686,542...63,689,298
Ensembl chr 6:63,686,546...63,688,456 		JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:63,516,037...63,519,323
Ensembl chr 6:63,516,045...63,518,405 		JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:63,523,850...63,526,672
Ensembl chr 6:63,523,804...63,526,666 		JBrowse link
G TTC34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:64,478,117...64,499,034
Ensembl chr 6:64,478,408...64,499,986 		JBrowse link
G TTLL10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:63,494,759...63,513,884
Ensembl chr 6:63,497,597...63,511,918 		JBrowse link
G UBE2J2 ubiquitin conjugating enzyme E2 J2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 6:63,556,134...63,568,080
Ensembl chr 6:63,555,488...63,568,017 		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 6:63,695,195...63,700,296
Ensembl chr 6:63,694,979...63,700,287 		JBrowse link
Hirschsprung Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,224 		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 4:119,931,471...120,712,461
Ensembl chr 4:119,931,414...120,712,459 		JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:25741868 PMID:26559152 PMID:28492532 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		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 8:77,970,087...78,680,307
Ensembl chr 8:77,970,558...78,680,250 		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 4:100,951,522...101,152,348
Ensembl chr 4:100,981,636...101,150,195 		JBrowse link
G NRP2 neuropilin 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:25741868 NCBI chr15:108,974,246...109,092,316
Ensembl chr15:108,974,816...109,092,305 		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 5:9,905,359...9,917,721
Ensembl chr 5:9,855,983...9,917,726 		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 chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,412 		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 5:9,890,439...9,901,746
Ensembl chr 5:9,891,525...9,901,743 		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 chr10:8,306,136...8,435,307
Ensembl chr10:8,305,539...8,390,341 		JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:10205261 PMID:15798777 PMID:17304050 PMID:22703879 PMID:24728327 More... NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,925...39,937,371 		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 chr 8:32,841,425...32,846,133
Ensembl chr 8:32,842,145...32,846,127 		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 ClinVar
OMIM		 PMID:8530372 PMID:9915973 PMID:25741868 PMID:34298581 NCBI chr 6:79,408,322...79,465,827
Ensembl chr 6:79,408,326...79,466,152 		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 chr 3:8,732,451...8,738,274
Ensembl chr 3:8,732,441...8,738,605 		JBrowse link
G AEBP2 AE binding protein 2 ISO OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 MouseDO NCBI chr 5:53,617,362...53,691,487
Ensembl chr 5:53,617,358...53,691,509 		JBrowse link
G AHNAK AHNAK nucleoprotein ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:28492532 NCBI chr 2:9,186,984...9,216,450 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 chr12:12,311,293...12,343,207
Ensembl chr12:12,311,298...12,343,200 		JBrowse link
G BMI1 BMI1 proto-oncogene, polycomb ring finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:29429387 NCBI chr10:52,586,089...52,596,154
Ensembl chr10:52,586,509...52,596,564 		JBrowse link
G CAVIN2 caveolae associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25792468 NCBI chr15:96,476,675...96,490,231
Ensembl chr15:96,474,284...96,490,016 		JBrowse link
G CCR9 C-C motif chemokine receptor 9 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr13:29,033,609...29,051,227
Ensembl chr13:29,033,570...29,054,598 		JBrowse link
G CD14 CD14 molecule ISO protein:increased expression:intestine: RGD PMID:15117676 RGD:7193054 NCBI chr 2:142,348,036...142,349,686
Ensembl chr 2:142,346,360...142,349,581 		JBrowse link
G CLUH clustered mitochondria homolog ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr12:48,740,117...48,763,496
Ensembl chr12:48,733,505...48,764,748 		JBrowse link
G CNTN5 contactin 5 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 9:30,259,603...31,469,860
Ensembl chr 9:30,572,372...31,469,858 		JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,224 		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 4:2,530,640...2,578,104
Ensembl chr 4:2,530,649...2,578,098 		JBrowse link
G DEPDC1 DEP domain containing 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 6:144,157,569...144,183,977
Ensembl chr 6:144,157,588...144,185,963 		JBrowse link
G DPPA5 developmental pluripotency associated 5 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 1:52,986,462...52,987,596
Ensembl chr 1:52,986,462...52,987,590 		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 4:119,931,471...120,712,461
Ensembl chr 4:119,931,414...120,712,459 		JBrowse link
G DSCAM DS cell adhesion molecule ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr13:203,566,765...204,292,079
Ensembl chr13:203,567,129...204,313,820 		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 9:33,720,920...34,039,954
Ensembl chr 9:33,720,877...34,040,188 		JBrowse link
G ECE1 endothelin converting enzyme 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 6:79,408,322...79,465,827
Ensembl chr 6:79,408,326...79,466,152 		JBrowse link
G EDN3 endothelin 3 ISO ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 ClinVar
OMIM		 PMID:8696331 PMID:9359047 PMID:9587491 PMID:10231870 PMID:14633923 More... NCBI chr17:59,418,667...59,448,382
Ensembl chr17:59,425,495...59,448,362 		JBrowse link
G EDNRB endothelin receptor type B treatment ISO ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Recessive | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 RGD
OMIM
ClinVar		 PMID:8001158 PMID:8852658 PMID:8852659 PMID:8852660 PMID:9359036 More... RGD:628516 NCBI chr11:50,073,300...50,102,879
Ensembl chr11:50,072,554...50,102,884 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 RGD
MouseDO		 PMID:12526770 RGD:734940 NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351 		JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 4:81,403,273...81,484,908
Ensembl chr 4:81,403,274...81,485,066 		JBrowse link
G FAT3 FAT atypical cadherin 3 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 9:24,772,394...25,476,424 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 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		JBrowse link
G FMN2 formin 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar
G GDNF glial cell derived neurotrophic factor susceptibility ISO ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 OMIM
ClinVar		 PMID:8896568 PMID:8896569 PMID:8968758 PMID:9215674 PMID:9359036 More... NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,604...22,966,536 		JBrowse link
G GFRA1 GDNF family receptor alpha 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr14:126,273,558...126,499,957
Ensembl chr14:126,277,875...126,499,465 		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 chr18:52,403,463...52,697,906
Ensembl chr18:52,404,072...52,697,900 		JBrowse link
G HDAC8 histone deacetylase 8 ISO protein:decreased expression:colon (human) RGD PMID:16771768 RGD:13208819 NCBI chr  X:58,210,182...58,450,681
Ensembl chr  X:58,210,192...58,450,573 		JBrowse link
G IHH Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr15:121,083,750...121,090,548
Ensembl chr15:121,083,753...121,090,121 		JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr17:11,289,607...11,348,557
Ensembl chr17:11,289,690...11,348,549 		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 5:30,524,704...30,601,067
Ensembl chr 5:30,526,793...30,609,921 		JBrowse link
G ITGB1 integrin subunit beta 1 ISO OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 MouseDO NCBI chr10:56,078,393...56,130,608
Ensembl chr10:56,078,396...56,173,326 		JBrowse link
G KDR kinase insert domain receptor ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:24728327 PMID:28492532 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO protein:decreased expression:intestine smooth muscle"
protein:decreased expression:aganglionic colon:		 RGD PMID:8831584 PMID:9247236 RGD:12910727 RGD:12910747 NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734 		JBrowse link
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:28492532 NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307 		JBrowse link
G LOC100516963 olfactory receptor 1361 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 3:38,999,900...39,007,156
Ensembl chr 3:39,001,044...39,001,988 		JBrowse link
G LOC100621701 protocadherin alpha-C2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 2:142,477,627...142,687,684
Ensembl chr 2:142,460,178...142,688,089 		JBrowse link
G LOC100738971 IQ domain-containing protein F5-like ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr13:34,029,459...34,032,458 JBrowse link
G LOC102160218 protocadherin alpha-7 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 2:142,504,123...142,511,445 JBrowse link
G LOC102160959 protocadherin alpha-13 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 2:142,547,032...142,657,171
Ensembl chr 2:142,549,516...142,552,334 		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 8:77,970,087...78,680,307
Ensembl chr 8:77,970,558...78,680,250 		JBrowse link
G LZTFL1 leucine zipper transcription factor like 1 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr13:28,975,202...29,005,245
Ensembl chr13:28,977,503...29,005,445 		JBrowse link
G MAN2A2 mannosidase alpha class 2A member 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 7:53,498,917...53,519,512
Ensembl chr 7:53,498,966...53,519,688 		JBrowse link
G MED15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr14:50,703,010...50,759,310
Ensembl chr14:50,703,019...50,759,310 		JBrowse link
G MGAM2 maltase-glucoamylase 2 (putative) ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr18:7,767,831...7,863,717
Ensembl chr18:7,767,698...7,858,337 		JBrowse link
G MIR128-1 microRNA mir-128-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29429387 NCBI chr15:16,273,557...16,273,638
Ensembl chr15:16,273,551...16,273,659 		JBrowse link
G MIR195 microRNA mir-195 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25007945 NCBI chr12:52,422,039...52,422,118
Ensembl chr12:52,422,039...52,422,118 		JBrowse link
G MIR206 microRNA mir-206 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25792468 NCBI chr 7:45,976,293...45,976,372
Ensembl chr 7:45,976,293...45,976,372 		JBrowse link
G MIR218-1 microRNA mir-218-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25786906 NCBI chr 8:15,047,602...15,047,685
Ensembl chr 8:15,047,602...15,047,685 		JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:25741868 NCBI chr 2:15,247,679...15,269,714
Ensembl chr 2:15,247,340...15,270,104 		JBrowse link
G NAV2 neuron navigator 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 2:39,263,939...40,083,539
Ensembl chr 2:39,266,926...40,078,124 		JBrowse link
G NCLN nicalin ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 2:75,369,926...75,390,609
Ensembl chr 2:75,369,955...75,390,545 		JBrowse link
G NGFR nerve growth factor receptor ISO protein:decreased expression:lamina propria:lack of staining is a marker for HD RGD PMID:7807351 RGD:5508387 NCBI chr12:25,699,410...25,720,355
Ensembl chr12:25,699,427...25,720,356 		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 4:100,951,522...101,152,348
Ensembl chr 4:100,981,636...101,150,195 		JBrowse link
G NOTCH4 notch receptor 4 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 7:24,231,293...24,256,281
Ensembl chr 7:24,231,293...24,256,281 		JBrowse link
G NRG1 neuregulin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22974608 NCBI chr15:52,625,550...53,688,003
Ensembl chr15:52,630,679...52,839,505 		JBrowse link
G NRG3 neuregulin 3 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:28492532 NCBI chr14:83,316,962...84,405,347
Ensembl chr14:83,317,019...84,402,943 		JBrowse link
G NRP2 neuropilin 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr15:108,974,246...109,092,316
Ensembl chr15:108,974,816...109,092,305 		JBrowse link
G NRTN neurturin ISO RGD PMID:9700200 RGD:1600267 NCBI chr 2:73,174,285...73,188,382
Ensembl chr 2:73,173,926...73,188,129 		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 5:65,052,608...65,122,645
Ensembl chr 5:65,052,519...65,123,788 		JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO protein:altered expression:intestine RGD PMID:8943115 RGD:5684546 NCBI chr 4:93,219,509...93,237,944
Ensembl chr 4:93,219,516...93,255,981 		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 9:6,319,616...6,419,652
Ensembl chr 9:6,319,650...6,419,660 		JBrowse link
G PACS1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:28492532 NCBI chr 2:6,138,345...6,277,309
Ensembl chr 2:6,138,351...6,174,632 		JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr14:95,530,168...96,388,032 JBrowse link
G PCDHA11 protocadherin alpha 11 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 2:142,521,690...142,687,684
Ensembl chr 2:142,538,379...142,541,234 		JBrowse link
G PGRMC2 progesterone receptor membrane component 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 8:96,692,823...96,710,218
Ensembl chr 8:96,692,777...96,709,994 		JBrowse link
G PHAX phosphorylated adaptor for RNA export ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 2:129,713,643...129,724,524
Ensembl chr 2:129,713,643...129,724,535 		JBrowse link
G PHOX2B paired like homeobox 2B ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 8:32,841,425...32,846,133
Ensembl chr 8:32,842,145...32,846,127 		JBrowse link
G PHRF1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 2:340,536...371,699
Ensembl chr 2:340,528...371,692 		JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:25741868 NCBI chr 1:235,880,088...235,888,338
Ensembl chr 1:235,878,355...235,887,993 		JBrowse link
G PLAU plasminogen activator, urokinase ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:28492532 NCBI chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172 		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 5:9,905,359...9,917,721
Ensembl chr 5:9,855,983...9,917,726 		JBrowse link
G POR cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 3:10,212,734...10,272,184
Ensembl chr 3:10,212,735...10,281,823 		JBrowse link
G PROKR1 prokineticin receptor 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 3:73,689,583...73,711,410
Ensembl chr 3:73,691,150...73,710,824 		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 chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223 		JBrowse link
G RET ret proto-oncogene susceptibility ISO ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4		 ClinVar
OMIM		 PMID:2008030 PMID:2639553 PMID:2660074 PMID:2904651 PMID:3078962 More... NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,412 		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 9:95,280,637...95,486,109
Ensembl chr 9:95,280,593...95,486,090 		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 chr12:47,949,004...47,959,471
Ensembl chr12:47,948,510...47,959,470 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:20972907 RGD:12801434 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,994...2,555,484 		JBrowse link
G SLC22A1 solute carrier family 22 member 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 1:7,340,442...7,365,543
Ensembl chr 1:7,340,126...7,365,520 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO RGD PMID:10975929 RGD:12879497 NCBI chr 6:168,535,398...168,561,170
Ensembl chr 6:168,535,440...168,560,867 		JBrowse link
G SNF8 SNF8 subunit of ESCRT-II ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr12:25,142,748...25,152,847
Ensembl chr12:25,142,813...25,153,016 		JBrowse link
G SOX10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:24357527 PMID:25741868 NCBI chr 5:9,890,439...9,901,746
Ensembl chr 5:9,891,525...9,901,743 		JBrowse link
G STX1A syntaxin 1A ISO RGD PMID:11345516 RGD:1581432 NCBI chr 3:10,974,127...10,991,846
Ensembl chr 3:10,974,127...10,991,873 		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 chr14:73,682,853...73,695,700
Ensembl chr14:73,681,767...73,697,340 		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 chr10:8,306,136...8,435,307
Ensembl chr10:8,305,539...8,390,341 		JBrowse link
G THBS4 thrombospondin 4 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 2:88,729,531...88,780,759
Ensembl chr 2:88,726,687...88,780,751 		JBrowse link
G TMEM165 transmembrane protein 165 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 8:54,751,570...54,796,352
Ensembl chr 8:54,751,572...54,787,886 		JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:10205261 PMID:15798777 PMID:17304050 PMID:22703879 PMID:24728327 More... NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,925...39,937,371 		JBrowse link
G UTP25 UTP25 small subunit processome component ISO CTD Direct Evidence: marker/mechanism CTD PMID:25007945 NCBI chr 9:133,115,177...133,141,258
Ensembl chr 9:133,105,063...133,141,217 		JBrowse link
G VCL vinculin ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:76,700,143...76,811,875
Ensembl chr14:76,700,173...76,811,869 		JBrowse link
G WNT8B Wnt family member 8B ISO RGD PMID:20972907 RGD:12801434 NCBI chr14:111,562,278...111,589,897
Ensembl chr14:111,562,489...111,589,893 		JBrowse link
G YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr12:47,601,133...47,645,327
Ensembl chr12:47,600,745...47,645,301 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr15:7,498,879...7,631,347
Ensembl chr15:7,499,026...7,632,655 		JBrowse link
G ZHX2 zinc fingers and homeoboxes 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 4:16,374,900...16,553,859
Ensembl chr 4:16,374,902...16,553,002 		JBrowse link
G ZNF592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 7:52,731,690...52,793,950
Ensembl chr 7:52,731,224...52,793,927 		JBrowse link
imperforate anus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Imperforate anus ClinVar PMID:25741868 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311 		JBrowse link
G CUL9 cullin 9 ISO ClinVar Annotator: match by term: Imperforate anus ClinVar PMID:25741868 NCBI chr 7:38,224,023...38,263,429
Ensembl chr 7:38,224,332...38,263,425 		JBrowse link
G MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 ISO ClinVar Annotator: match by term: Imperforate anus ClinVar NCBI chr 3:52,483,028...52,649,480
Ensembl chr 3:52,484,274...52,649,410 		JBrowse link
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Anal atresia ClinVar PMID:10405444 PMID:17334363 PMID:18691967 PMID:18805826 PMID:18973276 More... NCBI chr  X:57,150,884...57,174,367
Ensembl chr  X:57,150,919...57,175,333 		JBrowse link
G PCSK5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:228,854,587...229,308,054
Ensembl chr 1:228,854,595...229,308,906 		JBrowse link
G ROBO1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Imperforate anus ClinVar PMID:25741868 NCBI chr13:175,348,223...176,479,482
Ensembl chr13:175,348,410...176,479,481 		JBrowse link
intestinal atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF10 fibroblast growth factor 10 ISO MouseDO NCBI chr16:28,695,465...28,779,953
Ensembl chr16:28,695,470...28,777,509 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO MouseDO NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425 		JBrowse link
Isolated Caroli Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Cystic dilatation of the intrahepatic biliary tree ClinVar PMID:1189128 PMID:11898128 PMID:12874454 PMID:15698423 PMID:15805161 More... NCBI chr 7:45,447,354...45,925,141
Ensembl chr 7:45,450,950...45,925,149 		JBrowse link
IVIC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SALL4 spalt like transcription factor 4 ISO ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders OMIM
ClinVar		 PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532 NCBI chr17:53,082,610...53,103,023
Ensembl chr17:53,084,310...53,103,190 		JBrowse link
Johanson-Blizzard syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UBR1 ubiquitin protein ligase E3 component n-recognin 1 ISO ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: Nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness OMIM
ClinVar		 PMID:16311597 PMID:18553553 PMID:19006206 PMID:19058315 PMID:20556423 More... NCBI chr 1:128,319,311...128,474,330
Ensembl chr 1:128,319,311...128,474,302 		JBrowse link
Martinez-Frias Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RFX6 regulatory factor X6 ISO ClinVar Annotator: match by term: DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA ClinVar PMID:15592663 PMID:18414213 PMID:18512226 PMID:19887127 PMID:20148032 More... NCBI chr 1:44,765,451...44,826,884
Ensembl chr 1:44,765,451...44,823,510 		JBrowse link
Mitchell-Riley Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RFX6 regulatory factor X6 ISO ClinVar Annotator: match by term: Mitchell-Riley syndrome OMIM
ClinVar		 PMID:15592663 PMID:18414213 PMID:18512226 PMID:19887127 PMID:20148032 More... NCBI chr 1:44,765,451...44,826,884
Ensembl chr 1:44,765,451...44,823,510 		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 chr17:52,316,388...52,350,732
Ensembl chr17:52,317,913...52,332,079 		JBrowse link
G ARHGAP15 Rho GTPase activating protein 15 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr15:8,192,599...8,811,794
Ensembl chr15:8,192,607...8,811,795 		JBrowse link
G GTDC1 glycosyltransferase like domain containing 1 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar PMID:12920073 NCBI chr15:7,685,969...8,162,784
Ensembl chr15:7,757,935...8,051,594 		JBrowse link
G HNMT histamine N-methyltransferase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr15:13,733,412...13,768,106
Ensembl chr15:13,732,680...13,768,199 		JBrowse link
G KYNU kynureninase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr15:8,847,335...8,982,951
Ensembl chr15:8,850,544...8,982,891 		JBrowse link
G LRP1B LDL receptor related protein 1B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr15:9,612,805...11,499,969
Ensembl chr15:9,613,238...11,499,530 		JBrowse link
G NXPH2 neurexophilin 2 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr15:12,953,062...13,073,208
Ensembl chr15:12,953,195...13,073,202 		JBrowse link
G SPOPL speckle type BTB/POZ protein like ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr15:13,134,221...13,207,737
Ensembl chr15:13,134,225...13,207,731 		JBrowse link
G THSD7B thrombospondin type 1 domain containing 7B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr15:14,088,995...15,610,635
Ensembl chr15:14,088,999...15,046,042 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome | ClinVar Annotator: match by term: ZEB2-related condition OMIM
ClinVar		 PMID:2030158 PMID:9536098 PMID:9719364 PMID:11279515 PMID:11448942 More... NCBI chr15:7,498,879...7,631,347
Ensembl chr15:7,499,026...7,632,655 		JBrowse link
multiple intestinal atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CALM2 calmodulin 2 ISO ClinVar Annotator: match by term: Multiple gastrointestinal atresias ClinVar PMID:28492532 NCBI chr 3:93,371,765...93,386,378
Ensembl chr 3:93,372,045...93,386,218 		JBrowse link
G MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome | ClinVar Annotator: match by term: Multiple gastrointestinal atresias | ClinVar Annotator: match by term: Multiple intestinal atresia ClinVar PMID:23830146 PMID:24292712 PMID:25741868 PMID:28492532 NCBI chr 3:93,620,921...93,633,018
Ensembl chr 3:93,620,936...93,633,015 		JBrowse link
G STPG4 sperm-tail PG-rich repeat containing 4 ISO ClinVar Annotator: match by term: Multiple gastrointestinal atresias ClinVar PMID:28492532 NCBI chr 3:93,386,523...93,438,070
Ensembl chr 3:93,389,812...93,438,849 		JBrowse link
G TTC7A tetratricopeptide repeat domain 7A ISO ClinVar Annotator: match by term: Familial intestinal polyatresia syndrome | ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome | ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome 1 | ClinVar Annotator: match by term: Multiple gastrointestinal atresias | ClinVar Annotator: match by term: Multiple intestinal atresia OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23423984 PMID:23830146 More... NCBI chr 3:93,457,623...93,591,982
Ensembl chr 3:93,457,625...93,591,941 		JBrowse link
Mungan Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAD21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Mungan syndrome OMIM
ClinVar		 PMID:14638363 PMID:18414213 PMID:25575569 PMID:25741868 PMID:28492532 NCBI chr 4:21,772,821...21,802,453
Ensembl chr 4:21,772,855...21,802,715 		JBrowse link
Oculootofacial Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADNP2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr 6:128,071,503...128,113,292
Ensembl chr 6:128,030,715...128,113,288 		JBrowse link
G ATP9B ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr 1:146,022,975...146,228,847
Ensembl chr 1:146,022,978...146,221,769 		JBrowse link
G CTDP1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr 1:145,769,763...145,811,673
Ensembl chr 1:145,769,771...145,811,678 		JBrowse link
G GALR1 galanin receptor 1 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr 1:147,442,977...147,466,731
Ensembl chr 1:147,443,821...147,463,542 		JBrowse link
G HSBP1L1 heat shock factor binding protein 1 like 1 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr 6:127,960,330...127,972,241
Ensembl chr 6:127,960,266...127,973,191 		JBrowse link
G KCNG2 potassium voltage-gated channel modifier subfamily G member 2 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr 6:127,830,032...127,891,294
Ensembl chr 6:127,866,238...127,891,916 		JBrowse link
G MBP myelin basic protein ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr 1:147,649,516...147,685,289
Ensembl chr 1:147,590,865...147,685,290 		JBrowse link
G NFATC1 nuclear factor of activated T cells 1 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr 1:145,940,099...146,002,897
Ensembl chr 1:145,911,046...146,008,139 		JBrowse link
G PARD6G par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr 6:128,161,610...128,250,708
Ensembl chr 6:128,162,600...128,250,663 		JBrowse link
G RBFA ribosome binding factor A ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr 6:128,030,397...128,048,061
Ensembl chr 6:128,030,723...128,053,494 		JBrowse link
G SALL3 spalt like transcription factor 3 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr 1:146,251,591...146,273,778
Ensembl chr 1:146,252,155...146,273,906 		JBrowse link
G SLC66A2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr 6:127,894,111...127,952,268
Ensembl chr 6:127,894,111...127,952,225 		JBrowse link
G TXNL4A thioredoxin like 4A ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA | ClinVar Annotator: match by term: Oculootofacial dysplasia ClinVar PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More... NCBI chr 6:127,975,164...127,991,112
Ensembl chr 6:127,974,543...127,991,177 		JBrowse link
G ZNF236 zinc finger protein 236 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr 1:147,690,545...147,782,162
Ensembl chr 1:147,690,556...147,782,129 		JBrowse link
G ZNF516 zinc finger protein 516 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr 1:147,987,660...148,100,788
Ensembl chr 1:147,984,481...148,087,719 		JBrowse link
PCWH syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPZ myelin protein zero ISO OMIM:609136 MouseDO NCBI chr 4:89,174,107...89,179,556
Ensembl chr 4:89,169,311...89,179,925 		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 5:9,905,359...9,917,721
Ensembl chr 5:9,855,983...9,917,726 		JBrowse link
G SOX10 SRY-box transcription factor 10 severity ISO ClinVar Annotator: match by term: PCWH syndrome | ClinVar Annotator: match by term: Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease OMIM
ClinVar
RGD		 PMID:1636383 PMID:9462749 PMID:10482261 PMID:10762540 PMID:11026454 More... RGD:12802339 NCBI chr 5:9,890,439...9,901,746
Ensembl chr 5:9,891,525...9,901,743 		JBrowse link
Persistent Cloaca term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SHH sonic hedgehog signaling molecule ISO RGD PMID:24524909 RGD:12801442 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,994...2,555,484 		JBrowse link
Stromme syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CENPF centromere protein F ISO ClinVar Annotator: match by term: Stromme syndrome OMIM
ClinVar		 PMID:8261651 PMID:25564561 PMID:25741868 PMID:25741878 PMID:26820108 More... NCBI chr 9:128,948,386...129,012,241
Ensembl chr 9:128,948,498...129,012,218 		JBrowse link
syndromic microphthalmia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTL6A actin like 6A ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr13:117,598,415...117,627,311
Ensembl chr13:117,598,496...117,628,488 		JBrowse link
G C1H14orf39 chromosome 1 C14orf39 homolog ISO ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:189,330,137...189,471,874
Ensembl chr 1:189,407,490...189,470,541 		JBrowse link
G CCDC39 coiled-coil domain 39 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr13:118,623,787...118,773,205
Ensembl chr13:118,626,330...118,682,281 		JBrowse link
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr13:118,907,299...118,913,270
Ensembl chr13:118,902,666...118,913,270 		JBrowse link
G FXR1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr13:118,839,314...118,899,804
Ensembl chr13:118,839,338...118,900,136 		JBrowse link
G MRPL47 mitochondrial ribosomal protein L47 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr13:117,626,846...117,656,388
Ensembl chr13:117,625,330...117,656,389 		JBrowse link
G NDUFB5 NADH:ubiquinone oxidoreductase subunit B5 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr13:117,656,411...117,671,515
Ensembl chr13:117,656,503...117,678,509 		JBrowse link
G PEX5L peroxisomal biogenesis factor 5 like ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr13:117,832,199...118,088,383
Ensembl chr13:117,833,705...118,088,277 		JBrowse link
G SIX6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:189,497,807...189,503,189
Ensembl chr 1:189,497,815...189,503,500 		JBrowse link
G SOX2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia | ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome OMIM
ClinVar		 PMID:12002146 PMID:12612584 PMID:15346919 PMID:15389708 PMID:15812812 More... NCBI chr13:119,668,476...119,669,435
Ensembl chr13:119,668,476...119,669,435 		JBrowse link
G TTC14 tetratricopeptide repeat domain 14 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr13:118,614,392...118,638,229
Ensembl chr13:118,614,424...118,638,223 		JBrowse link
G USP13 ubiquitin specific peptidase 13 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr13:117,700,080...117,826,951
Ensembl chr13:117,700,119...117,826,944 		JBrowse link
Total Intestinal Aganglionosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDNRB endothelin receptor type B ISO ClinVar Annotator: match by term: Aganglionosis, total intestinal ClinVar PMID:16944573 PMID:18162831 PMID:25741868 PMID:30303587 PMID:32747562 NCBI chr11:50,073,300...50,102,879
Ensembl chr11:50,072,554...50,102,884 		JBrowse link
Townes-Brocks syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DACT1 dishevelled binding antagonist of beta catenin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:187,719,391...187,729,568
Ensembl chr 1:187,719,290...187,729,422 		JBrowse link
G SALL1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: Deafness, sensorineural, with imperforate anus and hypoplastic thumbs | ClinVar Annotator: match by term: SALL1-related condition | ClinVar Annotator: match by term: Townes syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome OMIM
ClinVar		 PMID:8133838 PMID:9425907 PMID:9536098 PMID:9973281 PMID:10533063 More... NCBI chr 6:33,731,666...33,748,698
Ensembl chr 6:33,732,025...33,748,704 		JBrowse link
Townes-Brocks Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DACT1 dishevelled binding antagonist of beta catenin 1 ISO ClinVar Annotator: match by term: Townes-Brocks syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28054444 PMID:28492532 PMID:36066768 NCBI chr 1:187,719,391...187,729,568
Ensembl chr 1:187,719,290...187,729,422 		JBrowse link
Townes-Brocks-Branchiootorenal-Like Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SALL1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome ClinVar PMID:9973281 PMID:10928856 PMID:14755477 PMID:16088922 PMID:23069192 More... NCBI chr 6:33,731,666...33,748,698
Ensembl chr 6:33,732,025...33,748,704 		JBrowse link
VACTERL association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPLANE2 ciliogenesis and planar polarity effector complex subunit 2 ISO OMIM:192350 | OMIM:276950 MouseDO NCBI chr 6:75,345,153...75,350,544
Ensembl chr 6:75,345,259...75,349,943 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 ISO OMIM:192350 | OMIM:276950 MouseDO NCBI chr 9:33,720,920...34,039,954
Ensembl chr 9:33,720,877...34,040,188 		JBrowse link
G FANCL FA complementation group L ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:19405097 PMID:23613520 PMID:25754594 PMID:28492532 NCBI chr 3:83,136,355...83,436,948
Ensembl chr 3:83,337,253...83,436,942 		JBrowse link
G FN1 fibronectin 1 ISO protein:increased expression:embryo RGD PMID:14986037 RGD:7205466 NCBI chr15:117,658,158...117,737,145
Ensembl chr15:117,658,099...117,731,014 		JBrowse link
G FOXF1 forkhead box F1 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:2629409 PMID:26294094 NCBI chr 6:2,579,348...2,598,122
Ensembl chr 6:2,592,993...2,597,659 		JBrowse link
G GLI2 GLI family zinc finger 2 ISO RGD PMID:11172440 RGD:155791680 NCBI chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306 		JBrowse link
G GLI3 GLI family zinc finger 3 ISO RGD PMID:11172440 RGD:155791680 NCBI chr18:52,403,463...52,697,906
Ensembl chr18:52,404,072...52,697,900 		JBrowse link
G HOXD13 homeobox D13 ISO ClinVar Annotator: match by term: VACTERL association ClinVar PMID:19006232 NCBI chr15:81,893,997...81,897,965
Ensembl chr15:81,893,972...81,896,944 		JBrowse link
G IFT172 intraflagellar transport 172 ISO OMIM:192350 | OMIM:276950 MouseDO NCBI chr 3:111,683,674...111,718,504
Ensembl chr 3:111,683,669...111,718,970 		JBrowse link
G NOTCH2 notch receptor 2 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,981,636...101,150,195 		JBrowse link
G PCSK5 proprotein convertase subtilisin/kexin type 5 ISO DNA:mutation:exon:p.C470R(mouse)
OMIM:192350 | OMIM:276950
CTD Direct Evidence: marker/mechanism		 RGD
MouseDO
CTD		 PMID:18519639 RGD:11556208 NCBI chr 1:228,854,587...229,308,054
Ensembl chr 1:228,854,595...229,308,906 		JBrowse link
G QSOX1 quiescin sulfhydryl oxidase 1 ISO OMIM:192350 | OMIM:276950 MouseDO NCBI chr 9:121,779,072...121,822,829
Ensembl chr 9:121,779,792...121,822,825 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:12632369 RGD:12801426 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,994...2,555,484 		JBrowse link
G TBC1D32 TBC1 domain family member 32 ISO OMIM:192350 | OMIM:276950 MouseDO NCBI chr 1:41,057,782...41,265,416
Ensembl chr 1:41,057,838...41,265,375 		JBrowse link
G TRAP1 TNF receptor associated protein 1 ISO ClinVar Annotator: match by term: VACTERL association ClinVar PMID:25741868 NCBI chr 3:38,536,710...38,595,273
Ensembl chr 3:38,536,668...38,603,015 		JBrowse link
Volvulus Of Midgut term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC1 ATP binding cassette subfamily C member 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 3:28,360,868...28,472,940
Ensembl chr 3:28,360,873...28,473,456 		JBrowse link
G ABCC6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 3:28,260,935...28,356,706
Ensembl chr 3:28,261,282...28,356,646 		JBrowse link
G ABHD11 abhydrolase domain containing 11 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 3:11,000,991...11,003,789
Ensembl chr 3:11,000,998...11,003,795 		JBrowse link
G ADNP2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 6:128,071,503...128,113,292
Ensembl chr 6:128,030,715...128,113,288 		JBrowse link
G ATP9B ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 1:146,022,975...146,228,847
Ensembl chr 1:146,022,978...146,221,769 		JBrowse link
G BAZ1B bromodomain adjacent to zinc finger domain 1B ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 3:10,761,461...10,843,918
Ensembl chr 3:10,761,499...10,843,840 		JBrowse link
G BCL7B BAF chromatin remodeling complex subunit BCL7B ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 3:10,850,347...10,887,485
Ensembl chr 3:10,850,354...10,869,288 		JBrowse link
G BMERB1 bMERB domain containing 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 3:7,248,806...7,387,523
Ensembl chr 3:7,248,827...7,387,518 		JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 3:10,960,037...10,973,084
Ensembl chr 3:10,960,092...10,973,082 		JBrowse link
G C1H18orf63 chromosome 1 C18orf63 homolog ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 1:149,685,242...149,725,523
Ensembl chr 1:149,687,631...149,725,161 		JBrowse link
G CBLN2 cerebellin 2 precursor ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 1:150,966,003...150,980,757
Ensembl chr 1:150,973,622...150,980,757 		JBrowse link
G CCDC102B coiled-coil domain containing 102B ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 1:153,687,961...153,933,096 JBrowse link
G CD226 CD226 molecule ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 1:152,872,878...152,977,162
Ensembl chr 1:152,882,762...152,979,845 		JBrowse link
G CEP20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 3:6,977,195...6,996,024
Ensembl chr 3:6,977,215...6,996,022 		JBrowse link
G CLDN3 claudin 3 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 3:11,019,073...11,020,102
Ensembl chr 3:11,019,073...11,020,102 		JBrowse link
G CLDN4 claudin 4 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 3:11,039,711...11,053,930
Ensembl chr 3:11,039,706...11,053,925 		JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 3:11,419,446...11,505,417 JBrowse link
G CNDP1 carnosine dipeptidase 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 1:149,523,983...149,564,728
Ensembl chr 1:149,521,510...149,562,623 		JBrowse link
G CNDP2 carnosine dipeptidase 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 1:149,565,327...149,584,319
Ensembl chr 1:149,565,335...149,583,998 		JBrowse link
G CTDP1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 1:145,769,763...145,811,673
Ensembl chr 1:145,769,771...145,811,678 		JBrowse link
G CYB5A cytochrome b5 type A ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 1:149,737,584...149,773,222
Ensembl chr 1:149,737,571...149,773,219 		JBrowse link
G DIPK1C divergent protein kinase domain 1C ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 1:149,611,232...149,629,777
Ensembl chr 1:149,611,380...149,629,078 		JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 3:10,951,173...10,959,935
Ensembl chr 3:10,955,877...10,959,916 		JBrowse link
G DOK6 docking protein 6 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 1:152,990,887...153,393,432
Ensembl chr 1:152,997,319...153,393,418 		JBrowse link
G DSEL dermatan sulfate epimerase like ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 1:154,919,331...154,937,484
Ensembl chr 1:154,919,550...154,935,561 		JBrowse link
G EIF4H eukaryotic translation initiation factor 4H ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 3:11,321,486...11,348,473
Ensembl chr 3:11,320,797...11,348,473 		JBrowse link
G ELN elastin ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,205...11,244,897 		JBrowse link
G FBXO15 F-box protein 15 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 1:149,856,032...149,898,829
Ensembl chr 1:149,856,489...149,896,536 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO associated with Craniosynostoses;DNA:missense mutations:cds:p.C342R, p.S252W (human) RGD PMID:27481450 RGD:12801473 NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425 		JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 3:10,659,456...10,716,210
Ensembl chr 3:10,669,664...10,682,618 		JBrowse link
G FZD9 frizzled class receptor 9 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 3:10,753,294...10,762,812
Ensembl chr 3:10,754,783...10,757,147 		JBrowse link
G GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 3:108,223,315...108,439,602
Ensembl chr 3:108,223,996...108,440,189 		JBrowse link
G GALR1 galanin receptor 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 1:147,442,977...147,466,731
Ensembl chr 1:147,443,821...147,463,542 		JBrowse link
G GTF2I general transcription factor IIi ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 3:11,656,928...11,811,426
Ensembl chr 3:11,671,575...11,811,423 		JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 3:11,538,183...11,654,795
Ensembl chr 3:11,538,314...11,654,770 		JBrowse link
G HDAC8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr  X:58,210,182...58,450,681
Ensembl chr  X:58,210,192...58,450,573 		JBrowse link
G HSBP1L1 heat shock factor binding protein 1 like 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 6:127,960,330...127,972,241
Ensembl chr 6:127,960,266...127,973,191 		JBrowse link
G KCNG2 potassium voltage-gated channel modifier subfamily G member 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 6:127,830,032...127,891,294
Ensembl chr 6:127,866,238...127,891,916 		JBrowse link
G LAT2 linker for activation of T cells family member 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 3:11,353,213...11,372,100
Ensembl chr 3:11,352,579...11,372,092 		JBrowse link
G LIMK1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 3:11,252,820...11,279,286
Ensembl chr 3:11,252,648...11,279,284 		JBrowse link
G MARF1 meiosis regulator and mRNA stability factor 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 3:7,180,762...7,228,229
Ensembl chr 3:7,180,749...7,228,410 		JBrowse link
G MBP myelin basic protein ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 1:147,649,516...147,685,289
Ensembl chr 1:147,590,865...147,685,290 		JBrowse link
G METTL27 methyltransferase like 27 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 3:11,054,822...11,057,734
Ensembl chr 3:11,054,960...11,057,704 		JBrowse link
G MLXIPL MLX interacting protein like ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 3:10,898,675...10,934,257
Ensembl chr 3:10,898,670...10,934,048 		JBrowse link
G MPV17L MPV17 mitochondrial inner membrane protein like ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 3:7,423,083...7,441,583
Ensembl chr 3:7,427,395...7,441,567 		JBrowse link
G MYH11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 3:7,002,667...7,143,093
Ensembl chr 3:7,002,735...7,143,095 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 3:7,145,094...7,174,691
Ensembl chr 3:7,125,936...7,180,623 		JBrowse link
G NETO1 neuropilin and tolloid like 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 1:150,711,486...150,821,626
Ensembl chr 1:150,711,628...150,817,437 		JBrowse link
G NFATC1 nuclear factor of activated T cells 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 1:145,940,099...146,002,897
Ensembl chr 1:145,911,046...146,008,139 		JBrowse link
G NSUN5 NOP2/Sun RNA methyltransferase 5 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 3:10,632,670...10,642,063
Ensembl chr 3:10,632,677...10,642,061 		JBrowse link
G PARD6G par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 6:128,161,610...128,250,708
Ensembl chr 6:128,162,600...128,250,663 		JBrowse link
G PHKA1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr  X:58,456,097...58,583,216
Ensembl chr  X:58,455,939...58,583,216 		JBrowse link
G PTGR3 prostaglandin reductase 3 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 1:148,987,197...148,995,138
Ensembl chr 1:148,987,518...148,997,954 		JBrowse link
G RBFA ribosome binding factor A ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 6:128,030,397...128,048,061
Ensembl chr 6:128,030,723...128,053,494 		JBrowse link
G RFC2 replication factor C subunit 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 3:11,373,489...11,392,690
Ensembl chr 3:11,373,492...11,392,695 		JBrowse link
G RTTN rotatin ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 1:152,688,305...152,833,969
Ensembl chr 1:152,689,504...152,833,946 		JBrowse link
G SALL3 spalt like transcription factor 3 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 1:146,251,591...146,273,778
Ensembl chr 1:146,252,155...146,273,906 		JBrowse link
G SLC66A2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 6:127,894,111...127,952,268
Ensembl chr 6:127,894,111...127,952,225 		JBrowse link
G SOCS6 suppressor of cytokine signaling 6 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 1:152,593,647...152,636,645
Ensembl chr 1:152,593,653...152,636,650 		JBrowse link
G STX1A syntaxin 1A ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 3:10,974,127...10,991,846
Ensembl chr 3:10,974,127...10,991,873 		JBrowse link
G TBL2 transducin beta like 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 3:10,850,347...10,892,441
Ensembl chr 3:10,876,973...10,892,404 		JBrowse link
G TIMM21 translocase of inner mitochondrial membrane 21 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 1:149,845,189...149,855,903
Ensembl chr 1:149,845,199...149,855,908 		JBrowse link
G TMEM270 transmembrane protein 270 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 3:11,059,177...11,079,858
Ensembl chr 3:11,075,901...11,078,442 		JBrowse link
G TMX3 thioredoxin related transmembrane protein 3 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 1:153,988,020...154,031,124
Ensembl chr 1:153,988,050...154,031,120 		JBrowse link
G TRIM50 tripartite motif containing 50 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 3:10,647,690...10,655,345
Ensembl chr 3:10,647,690...10,656,417 		JBrowse link
G TSHZ1 teashirt zinc finger homeobox 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 1:148,905,179...148,984,984
Ensembl chr 1:148,906,075...148,984,832 		JBrowse link
G TXNL4A thioredoxin like 4A ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 6:127,975,164...127,991,112
Ensembl chr 6:127,974,543...127,991,177 		JBrowse link
G VPS37D VPS37D subunit of ESCRT-I ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 3:10,947,403...10,951,271
Ensembl chr 3:10,947,403...10,951,273 		JBrowse link
G ZNF236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 1:147,690,545...147,782,162
Ensembl chr 1:147,690,556...147,782,129 		JBrowse link
G ZNF407 zinc finger protein 407 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 1:149,090,502...149,517,494
Ensembl chr 1:149,090,789...149,516,790 		JBrowse link
G ZNF516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 1:147,987,660...148,100,788
Ensembl chr 1:147,984,481...148,087,719 		JBrowse link
Waardenburg Syndrome Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDN3 endothelin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8630502 PMID:8630503 PMID:17516928 NCBI chr17:59,418,667...59,448,382
Ensembl chr17:59,425,495...59,448,362 		JBrowse link
G EDNRB endothelin receptor type B ISO ClinVar Annotator: match by term: Hirschsprung disease with pigmentary anomaly ClinVar PMID:16944573 PMID:18162831 PMID:25741868 PMID:30303587 PMID:30311386 More... NCBI chr11:50,073,300...50,102,879
Ensembl chr11:50,072,554...50,102,884 		JBrowse link
G SOX10 SRY-box transcription factor 10 ISO DNA:missense mutations,insertion,deletion:cds: RGD PMID:9462749 RGD:12832744 NCBI chr 5:9,890,439...9,901,746
Ensembl chr 5:9,891,525...9,901,743 		JBrowse link
Waardenburg syndrome type 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDNRB endothelin receptor type B ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4A OMIM
ClinVar		 PMID:7778600 PMID:8001158 PMID:8001159 PMID:8634719 PMID:8852659 More... NCBI chr11:50,073,300...50,102,879
Ensembl chr11:50,072,554...50,102,884 		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 5:9,905,359...9,917,721
Ensembl chr 5:9,855,983...9,917,726 		JBrowse link
G SOX10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4A ClinVar PMID:25741868 NCBI chr 5:9,890,439...9,901,746
Ensembl chr 5:9,891,525...9,901,743 		JBrowse link
Waardenburg syndrome type 4B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDN3 endothelin 3 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4B ClinVar
OMIM		 PMID:8630503 PMID:8696331 PMID:9359047 PMID:9587491 PMID:11303518 More... NCBI chr17:59,418,667...59,448,382
Ensembl chr17:59,425,495...59,448,362 		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 5:9,905,359...9,917,721
Ensembl chr 5:9,855,983...9,917,726 		JBrowse link
G SOX10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4C OMIM
ClinVar		 PMID:9462749 PMID:10077527 PMID:15004559 PMID:18348274 PMID:21898658 More... NCBI chr 5:9,890,439...9,901,746
Ensembl chr 5:9,891,525...9,901,743 		JBrowse link
X-linked VACTERL association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAZ1A bromodomain adjacent to zinc finger domain 1A ISO ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations ClinVar NCBI chr 7:64,969,626...65,069,969
Ensembl chr 7:64,969,640...65,069,889 		JBrowse link
G FANCB FA complementation group B ISO ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: VACTERL-H, X-LINKED | ClinVar Annotator: match by term: X-linked VACTERL-H syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565 NCBI chr  X:11,386,360...11,408,958
Ensembl chr  X:11,384,912...11,409,057 		JBrowse link
G FANCL FA complementation group L ISO ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus ClinVar PMID:19405097 PMID:23613520 PMID:25741868 PMID:25754594 PMID:28492532 More... NCBI chr 3:83,136,355...83,436,948
Ensembl chr 3:83,337,253...83,436,942 		JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly ClinVar PMID:10866302 PMID:11748304 PMID:17526800 PMID:17526801 PMID:17942903 More... NCBI chr14:99,929,590...100,021,619 JBrowse link
G SALL1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:25741868 NCBI chr 6:33,731,666...33,748,698
Ensembl chr 6:33,732,025...33,748,704 		JBrowse link
G ZIC3 Zic family member 3 ISO ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus OMIM
ClinVar		 PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 More... NCBI chr  X:112,592,951...112,605,087
Ensembl chr  X:112,593,301...112,604,814 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15277
    disease of anatomical entity 14911
      gastrointestinal system disease 6466
        Digestive System Abnormalities 486
          Absent Duct of Santorini 0
          Acrorenal Mandibular Syndrome 0
          Acrorenal Syndrome Recessive 0
          Anorectal Malformations + 116
          Barrett's esophagus + 41
          Craniosynostosis, Anal Anomalies, and Porokeratosis 0
          Currarino syndrome 59
          Hirschsprung's disease + 160
          Meckel's diverticulum 0
          Pancreaticobiliary Maljunction 0
          Volvulus Of Midgut 71
          biliary atresia + 17
          choledochal cyst + 8
          diaphragmatic eventration + 1
          esophageal atresia + 49
          intestinal atresia + 12
Path 2
Term Annotations click to browse term
  disease 15277
    Developmental Disease 13239
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12326
        Congenital Abnormalities 7325
          Digestive System Abnormalities 486
            Absent Duct of Santorini 0
            Acrorenal Mandibular Syndrome 0
            Acrorenal Syndrome Recessive 0
            Anorectal Malformations + 116
            Barrett's esophagus + 41
            Craniosynostosis, Anal Anomalies, and Porokeratosis 0
            Currarino syndrome 59
            Hirschsprung's disease + 160
            Meckel's diverticulum 0
            Pancreaticobiliary Maljunction 0
            Volvulus Of Midgut 71
            biliary atresia + 17
            choledochal cyst + 8
            diaphragmatic eventration + 1
            esophageal atresia + 49
            intestinal atresia + 12
paths to the root