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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 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:101,948,387...102,182,912
Ensembl chr15:95,542,315...95,774,283 		JBrowse link
G Abhd13 abhydrolase domain containing 13 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:79,501,879...79,516,712
Ensembl chr16:79,501,727...79,516,748 		JBrowse link
G Ankrd10 ankyrin repeat domain 10 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:84,566,021...84,591,849
Ensembl chr16:77,864,261...77,889,745 		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 chr16:87,455,097...87,479,148
Ensembl chr16:80,753,315...80,777,349 		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 chr 9:53,760,885...53,797,125
Ensembl chr 9:46,269,252...46,305,024 		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 chr16:84,649,617...84,689,254
Ensembl chr16:77,950,008...77,987,772 		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 chr 9:53,690,704...53,728,801
Ensembl chr 9:46,198,635...46,235,936 		JBrowse link
G Cldn10 claudin 10 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:102,269,858...102,361,589
Ensembl chr15:95,862,760...95,954,526 		JBrowse link
G Clybl citramalyl-CoA lyase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:105,690,283...105,912,347
Ensembl chr15:99,283,650...99,505,695 		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 chr16:84,885,597...84,996,482
Ensembl chr16:78,183,533...78,294,412 		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 chr16:84,749,672...84,885,520
Ensembl chr16:78,047,602...78,183,839 		JBrowse link
G Dct dopachrome tautomerase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:101,469,159...101,508,029
Ensembl chr15:95,062,003...95,100,836 		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 chr15:102,432,667...102,475,643
Ensembl chr15:96,025,624...96,065,181 		JBrowse link
G Dock9 dedicator of cytokinesis 9 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:105,018,341...105,289,799
Ensembl chr15:98,618,084...98,883,153 		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 chr15:102,363,392...102,417,085
Ensembl chr15:95,956,398...96,010,066 		JBrowse link
G Efnb2 ephrin B2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:87,485,215...87,529,224
Ensembl chr16:80,783,417...80,824,391 		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 chr 9:53,801,471...53,846,611
Ensembl chr 9:46,309,389...46,354,472 		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 chr15:104,531,196...104,770,148
Ensembl chr15:98,182,329...98,363,299 		JBrowse link
G Fgf14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:107,442,800...108,086,486
Ensembl chr15:101,045,036...101,679,900 		JBrowse link
G Ggact gamma-glutamylamine cyclotransferase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:106,375,924...106,406,649
Ensembl chr15:99,968,282...99,993,455 		JBrowse link
G Gpc6 glypican 6 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:100,437,415...101,435,038
Ensembl chr15:94,029,884...95,024,006 		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 chr15:105,404,062...105,407,812
Ensembl chr15:98,997,259...99,001,470 		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 chr15:95,195,782...95,224,955
Ensembl chr15:95,199,777...95,228,373 		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 chr15:105,445,129...105,457,192
Ensembl chr15:99,036,367...99,050,559 		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 chr15:102,688,420...103,407,725
Ensembl chr15:96,281,646...97,000,462 		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 chr16:84,639,378...84,649,498
Ensembl chr16:77,937,279...77,946,264 		JBrowse link
G Ipo5 importin 5 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:104,397,626...104,447,985
Ensembl chr15:98,005,299...98,041,126 		JBrowse link
G Irs2 insulin receptor substrate 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:85,190,310...85,214,543
Ensembl chr16:78,485,045...78,512,482 		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 chr15:107,186,792...107,448,335
Ensembl chr15:100,780,184...101,041,733 		JBrowse link
G Lig4 DNA ligase 4 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:86,220,345...86,228,930
Ensembl chr16:79,518,312...79,527,040 		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 chr15:103,792,134...103,949,827
Ensembl chr15:97,385,244...97,542,937 		JBrowse link
G Mettl21c methyltransferase 21C, AARS1 lysine ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 9:53,625,473...53,637,220
Ensembl chr 9:46,134,001...46,145,112 		JBrowse link
G Myo16 myosin XVI ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:85,586,428...86,066,537
Ensembl chr16:78,884,406...79,248,388 		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 chr15:106,805,209...107,148,837
Ensembl chr15:100,398,615...100,741,001 		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 chr16:86,415,540...86,938,150
Ensembl chr16:79,713,724...80,235,120 		JBrowse link
G Naxd NAD(P)HX dehydratase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:84,689,776...84,706,256
Ensembl chr16:77,987,726...78,004,192 		JBrowse link
G Oxgr1 oxoglutarate receptor 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:103,551,338...103,573,611
Ensembl chr15:97,144,293...97,166,612 		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 chr15:106,034,586...106,374,908
Ensembl chr15:99,627,982...99,968,266 		JBrowse link
G Poglut2 protein O-glucosyltransferase 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 9:53,748,484...53,801,453
Ensembl chr 9:46,256,390...46,268,532 		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 chr16:84,721,427...84,745,610
Ensembl chr16:78,019,337...78,043,529 		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 chr15:104,003,744...104,004,234
Ensembl chr15:97,596,020...97,624,138 		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 chr16:91,088,089...91,111,025
Ensembl chr16:84,374,862...84,409,475 		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 chr15:104,944,461...104,991,316
Ensembl chr15:98,537,641...98,582,545 		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 chr15:101,699,580...101,703,175
Ensembl chr15:95,292,265...95,296,091 		JBrowse link
G Stk24 serine/threonine kinase 24 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:104,770,556...104,866,524
Ensembl chr15:98,365,791...98,460,553 		JBrowse link
G Tex30 testis expressed 30 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 9:53,735,512...53,744,672
Ensembl chr 9:46,242,748...46,252,249 		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 chr15:101,581,765...101,602,779
Ensembl chr15:95,174,608...95,195,554 		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 chr15:105,606,082...105,660,715
Ensembl chr15:99,201,489...99,254,049 		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 chr15:106,406,795...106,463,226
Ensembl chr15:100,000,152...100,056,543 		JBrowse link
G Tnfsf13b TNF superfamily member 13b ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:86,164,377...86,195,072
Ensembl chr16:79,462,402...79,492,693 		JBrowse link
G Tpp2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 9:53,538,788...53,620,253
Ensembl chr 9:46,046,632...46,128,157 		JBrowse link
G Ubac2 UBA domain containing 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:105,366,776...105,514,435
Ensembl chr15:98,960,139...99,107,787 		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 chr15:96,074,557...96,239,365
Ensembl chr15:96,074,564...96,237,806 		JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:105,982,711...105,988,167
Ensembl chr15:99,576,697...99,581,522 		JBrowse link
G Zic5 Zic family member 5 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:105,964,932...105,973,669
Ensembl chr15:99,560,323...99,567,035 		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 IEP
ISO		 mRNA:decreased expression:hindgut
mRNA:decreased expression:rectum:
mRNA, protein:decreased expression:rectum		 RGD PMID:17161201 PMID:22027561 PMID:20146882 RGD:1599527, RGD:9068408, RGD:12798571 NCBI chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Cdx2 caudal type homeo box 2 ISO ClinVar Annotator: match by term: Anorectal malformation ClinVar PMID:25741868 NCBI chr12:12,762,769...12,769,246
Ensembl chr12:7,726,798...7,733,142 		JBrowse link
G Ephb2 Eph receptor B2 IEP mRNA,protein:decreased expression:embryonic cloaca, urorectal septum RGD PMID:19302865 RGD:127285623 NCBI chr 5:154,179,065...154,360,459
Ensembl chr 5:148,897,246...149,077,059 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 IEP mRNA:decreased expression:rectum (rat) RGD PMID:26514922 RGD:11052641 NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
G Gdnf glial cell derived neurotrophic factor IEP protein:decreased expression:rectum RGD PMID:23334620 RGD:405878053 NCBI chr 2:58,621,327...58,647,242
Ensembl chr 2:56,895,010...56,917,209 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO
IEP		 mRNA, protein:decreased expression:rectum
mRNA:decreased expression:terminal rectum 		RGD PMID:20146882 PMID:25213187 PMID:11485934 RGD:12798571, RGD:155791683, RGD:12802352 NCBI chr13:32,499,678...32,716,418
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
G Gli3 GLI family zinc finger 3 IEP mRNA:decreased expression:rectum
mRNA:decreased expression:terminal rectum 		RGD PMID:27079746 PMID:25213187 RGD:12743602, RGD:155791683 NCBI chr17:54,134,064...54,405,198
Ensembl chr17:49,438,567...49,709,712 		JBrowse link
G Hoxa13 homeo box A13 IEP mRNA:decreased expression:hindgut
mRNA:decreased expression:rectum		 RGD PMID:17161201 PMID:27079746 RGD:1599527, RGD:12743602 NCBI chr 4:82,689,566...82,691,701
Ensembl chr 4:81,358,956...81,361,091 		JBrowse link
G Hoxd13 homeo box D13 IEP mRNA:decreased expression:hindgut
mRNA:decreased expression:rectum		 RGD PMID:17161201 PMID:27079746 RGD:1599527, RGD:12743602 NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:59,570,646...59,573,963 		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:70,444,615...70,467,780
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO protein:decreased expression:somite RGD PMID:21480163 RGD:11556204 NCBI chr 1:224,263,823...224,694,350
Ensembl chr 1:214,837,927...215,267,600 		JBrowse link
G Shh sonic hedgehog signaling molecule severity IEP
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:1599527, RGD:12798571, RGD:12798569 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:6,954,017...6,963,170 		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: ASCC1-related condition | ClinVar Annotator: match by term: BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA | ClinVar Annotator: match by term: Barrett esophagus
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:21791690 PMID:25741868 PMID:26924529 PMID:28218388 PMID:28492532 More... NCBI chr20:28,484,044...28,574,195
Ensembl chr20:27,941,283...28,031,272 		JBrowse link
G B3gat2 beta-1,3-glucuronyltransferase 2 ISO DNA:hypermethylation:esophageal squamous epithelium RGD PMID:26545406 RGD:11552890 NCBI chr 9:26,167,174...26,250,153
Ensembl chr 9:26,167,174...26,250,153 		JBrowse link
G Becn1 beclin 1 disease_progression IEP
ISO		 RGD PMID:22301112 PMID:22301112 RGD:11561943, RGD:11561943 NCBI chr10:86,731,649...86,747,002
Ensembl chr10:86,231,388...86,246,742 		JBrowse link
G Bmp4 bone morphogenetic protein 4 IEP
ISO		 protein:increased expression:esophagus: RGD PMID:17570215 PMID:17570215 RGD:8699511, RGD:8699511 NCBI chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Cdh13 cadherin 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18729198 NCBI chr19:63,258,251...64,296,122
Ensembl chr19:46,349,430...47,387,459 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO protein:increased expression:nucleus of esophagus mucosa: RGD PMID:11753681 RGD:8662398 NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Cdx2 caudal type homeo box 2 disease_progression ISO RGD PMID:23011828 RGD:7349348 NCBI chr12:12,762,769...12,769,246
Ensembl chr12:7,726,798...7,733,142 		JBrowse link
G Cthrc1 collagen triple helix repeat containing 1 ISO ClinVar Annotator: match by term: BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:21791690 NCBI chr 7:72,007,372...72,017,654
Ensembl chr 7:70,122,474...70,132,756 		JBrowse link
G Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18059332 NCBI chr 1:244,883,822...244,887,657
Ensembl chr 1:235,471,298...235,475,204 		JBrowse link
G Fas Fas cell surface death receptor severity ISO RGD PMID:10821489 RGD:12903968 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Foxp1 forkhead box P1 ISO DNA:snp:enhancer:g.70879779A>C (rs2687201) (human) RGD PMID:25447851 RGD:11560527 NCBI chr 4:133,117,346...133,808,647
Ensembl chr 4:131,564,756...132,112,258 		JBrowse link
G Gast gastrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr10:85,765,216...85,767,881
Ensembl chr10:85,264,832...85,267,496 		JBrowse link
G Gata6 GATA binding protein 6 disease_progression ISO protein:increased expression: esophagus squamous epithelium (human) RGD PMID:25445407 RGD:13208870 NCBI chr18:2,460,909...2,492,322
Ensembl chr18:2,188,121...2,219,532 		JBrowse link
G Gpx3 glutathione peroxidase 3 ISO DNA:hypermethylation:promoter RGD PMID:18664505 RGD:151665749 NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,028,570...39,037,035 		JBrowse link
G Gpx7 glutathione peroxidase 7 ISO DNA:hypermethylation:promoter RGD PMID:18664505 RGD:151665749 NCBI chr 5:128,373,881...128,381,866
Ensembl chr 5:123,144,331...123,153,004 		JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:18,677,101...18,745,409 		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 chr14:86,270,208...86,277,944
Ensembl chr14:82,056,347...82,064,083 		JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127259 NCBI chr 2:185,884,840...185,912,532
Ensembl chr 2:183,219,220...183,222,303 		JBrowse link
G Mir145 microRNA 145 ISO miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr18:57,369,983...57,370,070
Ensembl chr18:55,099,640...55,099,727 		JBrowse link
G Mir196a2 microRNA 196a-2 ISO miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr 7:135,988,876...135,988,985
Ensembl chr 7:134,110,400...134,110,509 		JBrowse link
G Mir223 microRNA 223 disease_progression ISO RGD PMID:23757351 RGD:21408587 NCBI chr  X:65,151,383...65,151,492
Ensembl chr  X:61,141,887...61,141,996 		JBrowse link
G Mir30a microRNA 30a ISO miRNA:increased expression:esophagus (human) RGD PMID:29906417 RGD:153344526 NCBI chr 9:33,233,941...33,234,011
Ensembl chr 9:25,737,600...25,737,670 		JBrowse link
G Mki67 marker of proliferation Ki-67 severity ISO RGD PMID:22147251 RGD:6483521 NCBI chr 1:199,926,150...199,952,847
Ensembl chr 1:190,496,319...190,522,762 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO DNA:insertion:promoter:g.-1607insG rs1799750 (human) RGD PMID:19321798 RGD:7207058 NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO DNA:snp:promoter:g.-82A>G rs2276109 (human) RGD PMID:19321798 RGD:7207058 NCBI chr 8:12,866,652...12,876,554
Ensembl chr 8:4,581,785...4,599,611 		JBrowse link
G Msr1 macrophage scavenger receptor 1 ISO ClinVar Annotator: match by term: BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA | ClinVar Annotator: match by term: Barrett esophagus | ClinVar Annotator: match by term: MSR1-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12244320 PMID:12958598 PMID:21791690 PMID:24082139 PMID:25333069 More... NCBI chr16:59,421,250...59,507,070
Ensembl chr16:52,717,732...52,799,676 		JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming disease_progression ISO RGD PMID:23011828 RGD:7349348 NCBI chr 1:206,225,775...206,261,280
Ensembl chr 1:196,799,517...196,831,756 		JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21977915 NCBI chr11:75,965,717...76,006,733
Ensembl chr11:62,460,213...62,496,658 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr 4:150,095,743...150,221,104
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Ptges prostaglandin E synthase IEP mRNA:increased expression:esophagus RGD PMID:14684572 RGD:2300107 NCBI chr 3:34,575,643...34,586,987 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression ISO
IMP		 mRNA: increased expression: Esophagus
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:11059772 PMID:15387324 PMID:17244951 PMID:23011828 PMID:12105834 More... RGD:7349348, RGD:13207438, RGD:1642603 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr 1:212,354,336...212,364,815
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Rprm reprimo, TP53 dependent G2 arrest mediator homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121882 NCBI chr 3:58,948,618...58,950,035
Ensembl chr 3:38,539,581...38,540,998 		JBrowse link
G Slc9a1 solute carrier family 9 member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127259 NCBI chr 5:150,859,412...150,913,525
Ensembl chr 5:145,576,334...145,629,624 		JBrowse link
G Smo smoothened, frizzled class receptor treatment IMP RGD PMID:23108119 RGD:150340553 NCBI chr 4:59,311,084...59,341,280
Ensembl chr 4:58,343,529...58,373,829 		JBrowse link
G Sst somatostatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17999418 NCBI chr11:90,461,546...90,462,823
Ensembl chr11:76,956,896...76,958,173 		JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human) RGD PMID:25910066 RGD:11055189 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
G Zfy1 zinc finger protein 1, Y-linked ISO DNA:hypermethylation:esophageal squamous epithelium RGD PMID:26545406 RGD:11552890
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 chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Cd14 CD14 molecule disease_progression ISO mRNA, protein:increased expression:liver, plasma: RGD PMID:21172039 RGD:7184431 NCBI chr18:28,609,558...28,611,409
Ensembl chr18:28,335,340...28,337,261 		JBrowse link
G Dlk1 delta like non-canonical Notch ligand 1 ISO RGD PMID:14743499 RGD:1625622 NCBI chr 6:134,192,491...134,199,779
Ensembl chr 6:128,410,316...128,417,522 		JBrowse link
G Ggt1 gamma-glutamyltransferase 1 disease_progression ISO RGD PMID:29056230 RGD:14701039 NCBI chr20:13,074,141...13,103,551
Ensembl chr20:13,074,700...13,108,442 		JBrowse link
G Gli2 GLI family zinc finger 2 disease_progression ISO RGD PMID:25746691 RGD:12802349 NCBI chr13:32,499,678...32,716,418
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
G Hamp hepcidin antimicrobial peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:16627878 NCBI chr 1:95,298,332...95,300,271
Ensembl chr 1:86,170,901...86,172,891 		JBrowse link
G Icam1 intercellular adhesion molecule 1 susceptibility ISO DNA:missense mutation:cds:p.G241R (human) RGD PMID:18401716 RGD:14402043 NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438 		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:14695529, RGD:14695528 NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Mir145 microRNA 145 IEP miRNA:decreased expression:liver (human) RGD PMID:28902846 RGD:15039396 NCBI chr18:57,369,983...57,370,070
Ensembl chr18:55,099,640...55,099,727 		JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:liver RGD PMID:27817193 PMID:28355202 RGD:25671379, RGD:24922206 NCBI chr11:37,261,114...37,261,178
Ensembl chr11:23,774,654...23,774,718 		JBrowse link
G Pten phosphatase and tensin homolog ISO mRNA:decreased expression:liver (human) RGD PMID:25487473 RGD:12832754 NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Shh sonic hedgehog signaling molecule disease_progression ISO RGD PMID:25746691 RGD:12802349 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
G Sox17 SRY-box transcription factor 17 ISS MouseDO NCBI chr 5:19,814,345...19,819,859
Ensembl chr 5:15,016,731...15,022,228 		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 3:126,685,017...126,697,957
Ensembl chr 3:106,231,444...106,244,119 		JBrowse link
G Spint2 serine peptidase inhibitor, Kunitz type, 2 ISO mRNA,protein:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 1:93,685,637...93,708,091
Ensembl chr 1:84,558,166...84,580,616 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:15845635 RGD:1581370 NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,308,885...5,315,162 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO RGD PMID:30686515 RGD:14985228 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847 		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 chr18:75,846,860...75,871,638
Ensembl chr18:73,571,936...73,628,484 		JBrowse link
G Atp9b ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,451,821...76,643,931
Ensembl chr18:74,176,863...74,368,953 		JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,129,243...76,193,404
Ensembl chr18:73,854,282...73,916,457 		JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:78,046,803...78,062,359
Ensembl chr18:75,772,023...75,787,577 		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 chr18:75,957,266...75,963,024
Ensembl chr18:73,682,286...73,688,045 		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 chr18:76,017,225...76,085,377
Ensembl chr18:73,743,074...73,808,723 		JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:78,130,652...78,241,174
Ensembl chr18:75,855,878...75,966,404 		JBrowse link
G Nfatc1 nuclear factor of activated T-cells 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,321,386...76,430,997
Ensembl chr18:74,046,904...74,156,028 		JBrowse link
G Pard6g par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:75,772,992...75,840,041
Ensembl chr18:73,498,021...73,565,029 		JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:75,914,247...75,923,893
Ensembl chr18:73,639,260...73,648,915 		JBrowse link
G Sall3 spalt-like transcription factor 3 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,680,997...76,700,905
Ensembl chr18:74,407,560...74,426,789 		JBrowse link
G Slc66a2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:75,976,000...76,014,651
Ensembl chr18:73,702,564...73,739,676 		JBrowse link
G Txnl4a thioredoxin-like 4A ISO CTD Direct Evidence: marker/mechanism
DNA:deletions:promoter:
DNA:missense mutations,deletions:promoter, cds:
ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome | ClinVar Annotator: match by term: TXNL4A-related condition		 OMIM
CTD
ClinVar
RGD		 PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More... RGD:155882456, RGD:11531484 NCBI chr18:75,934,085...75,949,873
Ensembl chr18:73,659,107...73,674,893 		JBrowse link
G Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:78,251,248...78,351,037
Ensembl chr18:75,978,231...76,073,737 		JBrowse link
G Zfp516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:78,561,069...78,661,263
Ensembl chr18:76,302,096...76,385,269 		JBrowse link
Caroli disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angpt2 angiopoietin 2 IEP protein:increased expression:bile duct (rat) RGD PMID:16628643 RGD:2314213 NCBI chr16:77,790,760...77,841,241
Ensembl chr16:71,088,364...71,138,804 		JBrowse link
G Ift56 intraflagellar transport 56 ISO ClinVar Annotator: match by term: Caroli disease ClinVar PMID:25741868 PMID:31595528 PMID:32617964 NCBI chr 4:68,057,530...68,115,494
Ensembl chr 4:67,090,660...67,147,903 		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 9:30,040,466...30,533,834
Ensembl chr 9:22,549,513...23,037,381 		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 chr14:43,396,130...43,460,012
Ensembl chr14:43,042,478...43,106,288 		JBrowse link
cartilage-hair hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Cartilage-hair hypoplasia ClinVar PMID:8034306 PMID:8444246 PMID:9156319 PMID:10026268 PMID:11207361 More... NCBI chr 5:62,545,273...62,548,711
Ensembl chr 5:57,748,999...57,752,918 		JBrowse link
choledochal cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 4:85,812,784...85,824,964
Ensembl chr 4:84,482,512...84,494,690 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 4:47,422,084...47,694,646
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO DNA:deletion:exon:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18988797 PMID:15830394 RGD:14700991 NCBI chr 9:30,040,466...30,533,834
Ensembl chr 9:22,549,513...23,037,381 		JBrowse link
G Sct secretin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 1:205,812,435...205,813,246
Ensembl chr 1:196,382,856...196,383,658 		JBrowse link
G Slc4a2 solute carrier family 4 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 4:11,628,860...11,646,961
Ensembl chr 4:10,736,425...10,752,965 		JBrowse link
Craniosynostosis, Anal Anomalies, and Porokeratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnu12 RNA, U12 small nuclear ISO ClinVar Annotator: match by term: CDAGS syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2400728 PMID:9733036 PMID:23602181 PMID:25741868 PMID:28217872 More... NCBI chr 7:116,183,590...116,183,740
Ensembl chr 7:114,303,546...114,303,696 		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 chr11:93,975,579...94,071,659
Ensembl chr11:80,473,872...80,567,253 		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 chr11:93,844,863...93,856,595
Ensembl chr11:80,339,977...80,352,211 		JBrowse link
G Actl6a actin-like 6A ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:117,413,206...117,436,758
Ensembl chr 2:115,492,285...115,508,401 		JBrowse link
G Alg3 ALG3, alpha-1,3- mannosyltransferase ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:93,804,859...93,810,403
Ensembl chr11:80,300,498...80,307,912 		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 chr11:93,859,690...93,868,600
Ensembl chr11:80,328,041...80,364,140 		JBrowse link
G Atp11b ATPase phospholipid transporting 11B (putative) ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:118,585,348...118,691,076
Ensembl chr 2:118,585,342...118,690,232 		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 chr11:94,645,480...94,657,584
Ensembl chr11:81,140,599...81,156,166 		JBrowse link
G C11h3orf70 similar to human chromosome 3 open reading frame 70 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:79,345,857...79,396,140
Ensembl chr11:79,345,304...79,396,142 		JBrowse link
G Camk2n2 calcium/calmodulin-dependent protein kinase II inhibitor 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:93,792,112...93,796,153 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 chr 2:118,593,881...118,631,584
Ensembl chr 2:116,665,261...116,703,350 		JBrowse link
G Chrd chordin ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:93,676,400...93,685,584
Ensembl chr11:80,171,994...80,180,673 		JBrowse link
G Clcn2 chloride voltage-gated channel 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:93,702,382...93,716,059
Ensembl chr11:80,198,153...80,211,657 		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 chr 2:120,649,445...120,700,879
Ensembl chr 2:118,721,822...118,772,602 		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 chr 2:118,851,497...118,875,813
Ensembl chr 2:116,923,272...116,945,264 		JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:93,869,834...93,887,013
Ensembl chr11:80,366,117...80,382,462 		JBrowse link
G Ece2 endothelin-converting enzyme 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:93,767,559...93,782,896
Ensembl chr11:80,263,162...80,278,428 		JBrowse link
G Eef1akmt4 EEF1A lysine methyltransferase 4 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:80,292,113...80,299,670
Ensembl chr11:80,291,978...80,299,659 		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 chr11:92,746,409...92,779,647
Ensembl chr11:79,241,938...79,275,188 		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 chr11:93,898,814...93,909,431
Ensembl chr11:80,394,433...80,404,419 		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 chr11:93,726,322...93,746,387
Ensembl chr11:80,221,919...80,241,941 		JBrowse link
G Ephb3 Eph receptor B3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:93,345,098...93,363,775
Ensembl chr11:79,840,668...79,859,370 		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 chr11:93,715,979...93,725,930
Ensembl chr11:80,211,745...80,221,511 		JBrowse link
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:118,812,287...118,865,813
Ensembl chr 2:116,884,248...116,937,590 		JBrowse link
G Gnb4 G protein subunit beta 4 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:117,289,112...117,329,050
Ensembl chr 2:115,364,918...115,400,579 		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 chr11:92,378,908...92,478,893
Ensembl chr11:78,874,414...78,974,377 		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 chr 2:116,598,511...116,903,886
Ensembl chr 2:114,935,976...114,975,173 		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 chr 2:117,184,165...117,198,519
Ensembl chr 2:115,253,761...115,270,142 		JBrowse link
G Klhl24 kelch-like family member 24 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:94,348,024...94,382,085
Ensembl chr11:80,846,755...80,877,636 		JBrowse link
G Klhl6 kelch-like family member 6 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:94,475,262...94,514,653
Ensembl chr11:80,970,917...81,009,677 		JBrowse link
G Lamp3 lysosomal-associated membrane protein 3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:94,657,817...94,726,451
Ensembl chr11:81,193,649...81,221,784 		JBrowse link
G Liph lipase H ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:79,032,229...79,081,625
Ensembl chr11:79,033,312...79,081,625 		JBrowse link
G LOC120095726 small nucleolar RNA SNORA63 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:77,766,654...77,766,782
Ensembl chr11:77,766,654...77,766,782 		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 chr11:92,596,436...92,741,717
Ensembl chr11:79,097,247...79,235,181 		JBrowse link
G Map6d1 MAP6 domain containing 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:94,238,552...94,244,781
Ensembl chr11:80,734,148...80,740,377 		JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:120,727,313...120,779,334
Ensembl chr 2:118,799,150...118,851,222 		JBrowse link
G Mfn1 mitofusin 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:117,240,525...117,288,017
Ensembl chr 2:115,313,401...115,359,640 		JBrowse link
G Mir1224 microRNA 1224 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:93,811,291...93,811,375
Ensembl chr11:80,306,902...80,306,986 		JBrowse link
G Mnx1 motor neuron and pancreas homeobox 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Currarino triad | ClinVar Annotator: match by term: MNX1-related condition		 OMIM
CTD
ClinVar		 PMID:7550324 PMID:9843207 PMID:10631160 PMID:10749657 PMID:11528505 More... NCBI chr 4:6,541,645...6,546,604
Ensembl chr 4:5,866,506...5,871,465 		JBrowse link
G Mrpl47 mitochondrial ribosomal protein L47 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:115,507,842...115,520,093
Ensembl chr 2:115,500,264...115,518,994 		JBrowse link
G Ndufb5 NADH:ubiquinone oxidoreductase subunit B5 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:117,447,605...117,461,943
Ensembl chr 2:115,519,154...115,533,589 		JBrowse link
G Parl presenilin associated, rhomboid-like ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:94,097,559...94,124,915
Ensembl chr11:80,593,192...80,620,506 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:224,263,823...224,694,350
Ensembl chr 1:214,837,927...215,267,600 		JBrowse link
G Pex5l peroxisomal biogenesis factor 5-like ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:117,623,199...117,836,772
Ensembl chr 2:115,700,972...115,913,628 		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 chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032 		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 chr11:93,696,423...93,701,902
Ensembl chr11:80,192,032...80,197,515
Ensembl chr10:80,192,032...80,197,515 		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 chr11:93,752,761...93,763,388
Ensembl chr11:80,248,364...80,259,043 		JBrowse link
G Senp2 SUMO specific peptidase 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:92,487,259...92,522,795
Ensembl chr11:78,981,432...79,018,238 		JBrowse link
G Snord66 small nucleolar RNA, C/D box 66 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:80,230,152...80,230,226
Ensembl chr11:80,230,152...80,230,226 		JBrowse link
G Sox2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:119,465,131...119,467,542
Ensembl chr 2:117,536,929...117,539,338 		JBrowse link
G Thpo thrombopoietin ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 Ensembl chr11:80,182,820...80,188,167 JBrowse link
G Tmem41a transmembrane protein 41a ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:79,084,005...79,090,613
Ensembl chr11:79,084,001...79,090,613 		JBrowse link
G Ttc14 tetratricopeptide repeat domain 14 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:118,581,779...118,600,361
Ensembl chr 2:116,653,595...116,664,158 		JBrowse link
G Usp13 ubiquitin specific peptidase 13 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:117,502,811...117,617,049
Ensembl chr 2:115,577,091...115,686,222 		JBrowse link
G Vps8 VPS8 subunit of CORVET complex ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:92,906,702...93,140,844
Ensembl chr11:79,402,239...79,634,133 		JBrowse link
G Vwa5b2 von Willebrand factor A domain containing 5B2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:93,810,456...93,827,609
Ensembl chr11:80,306,350...80,323,220 		JBrowse link
G Yeats2 YEATS domain containing 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:94,247,538...94,333,652
Ensembl chr11:80,743,134...80,829,208 		JBrowse link
G Zfp639 zinc finger protein 639 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:117,220,806...117,231,132
Ensembl chr 2:115,292,516...115,303,628 		JBrowse link
G Zmat3 zinc finger, matrin type 3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:117,034,517...117,066,141
Ensembl chr 2:115,106,966...115,136,863 		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:27631024 PMID:28492532 PMID:31568861 PMID:34906519 More... NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032 		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:23021139 PMID:21492869 RGD:14367881, RGD:14367883 NCBI chr 8:80,758,641...80,837,891
Ensembl chr 8:71,877,850...71,957,107 		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 chr 4:47,422,084...47,694,646
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO RGD PMID:15185216 RGD:12801491 NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
G Gucy2c guanylate cyclase 2C ISO ClinVar Annotator: match by term: Duodenal atresia ClinVar NCBI chr 4:171,299,715...171,380,296
Ensembl chr 4:169,568,529...169,649,092 		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 3:98,156,626...98,345,876
Ensembl chr 3:77,700,936...77,890,221 		JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 1:89,700,645...89,729,782
Ensembl chr 1:80,572,796...80,601,918 		JBrowse link
G Atp6v0a1 ATPase H+ transporting V0 subunit a1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr10:86,436,089...86,490,185
Ensembl chr10:85,935,854...85,989,895 		JBrowse link
G C2cd4a C2 calcium-dependent domain containing 4A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 8:77,348,161...77,359,996
Ensembl chr 8:68,466,664...68,470,031 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
G Cdc27 cell division cycle 27 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr10:89,900,676...89,949,770
Ensembl chr10:89,400,940...89,449,736 		JBrowse link
G Cmip c-Maf-inducing protein ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr19:62,213,402...62,419,443
Ensembl chr19:45,304,031...45,508,709 		JBrowse link
G Disp1 dispatched RND transporter family member 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:25741868 PMID:36135330 NCBI chr13:97,252,574...97,398,329
Ensembl chr13:94,720,928...94,866,702 		JBrowse link
G Drosha drosha ribonuclease III ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:63,591,885...63,703,688
Ensembl chr 2:61,864,970...61,976,688 		JBrowse link
G Dscam DS cell adhesion molecule ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr11:49,391,385...49,976,861
Ensembl chr11:35,926,896...36,507,415 		JBrowse link
G Dst dystonin ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 9:43,631,716...44,025,535
Ensembl chr 9:36,135,284...36,529,615 		JBrowse link
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO DNA:mutations:multiple (human) RGD PMID:23188108 RGD:10045556 NCBI chr10:88,304,992...88,352,229
Ensembl chr10:87,804,892...87,846,079 		JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr10:26,876,926...26,965,523
Ensembl chr10:26,374,694...26,464,346 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO DNA:deletion:: (human) RGD PMID:20740495 RGD:12792229 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Hoxc4 homeo box C4 ISO mRNA:decreased expression:lung (mouse) RGD PMID:17211587 RGD:10402180 NCBI chr 7:136,049,059...136,051,601
Ensembl chr 7:134,170,591...134,173,133 		JBrowse link
G Igsf3 immunoglobulin superfamily, member 3 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:188,811,394...188,899,645
Ensembl chr 2:188,811,380...188,899,645 		JBrowse link
G Insr insulin receptor ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr12:5,991,135...6,129,275
Ensembl chr12:1,197,100...1,330,883 		JBrowse link
G Itgb1 integrin subunit beta 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr19:73,602,277...73,650,271
Ensembl chr19:56,705,171...56,753,195 		JBrowse link
G Kcna6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 4:161,229,103...161,262,352
Ensembl chr 4:159,542,615...159,576,189 		JBrowse link
G Mid2 midline 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:109,143,057...109,245,257
Ensembl chr  X:104,355,316...104,453,473 		JBrowse link
G Nags N-acetylglutamate synthase ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr10:87,598,516...87,602,650
Ensembl chr10:87,098,330...87,102,465 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Pde4d phosphodiesterase 4D ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:41,748,337...43,262,567
Ensembl chr 2:40,019,933...41,525,884 		JBrowse link
G Plk2 polo-like kinase 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:43,702,536...43,708,305
Ensembl chr 2:41,969,176...41,974,947 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:15,238,961...15,299,004
Ensembl chr  X:12,566,645...12,747,882 		JBrowse link
G Sipa1 signal-induced proliferation-associated 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 1:212,367,867...212,379,952
Ensembl chr 1:202,938,580...202,950,591 		JBrowse link
G Stat5a signal transducer and activator of transcription 5A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr10:86,285,859...86,310,187
Ensembl chr10:85,785,537...85,809,866 		JBrowse link
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:28492532 NCBI chr18:65,216,840...65,563,186
Ensembl chr18:62,943,782...63,284,425 		JBrowse link
G Tenm2 teneurin transmembrane protein 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr10:20,984,710...22,121,001
Ensembl chr10:20,481,854...21,705,597 		JBrowse link
G Tent5a terminal nucleotidyltransferase 5A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 8:95,102,349...95,109,100
Ensembl chr 8:86,225,357...86,229,045 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:17,034,779...17,045,682
Ensembl chr  X:14,362,860...14,373,727 		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:1772447 PMID:8673090 PMID:8988179 PMID:9150172 PMID:9536098 More... NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567 		JBrowse link
G Gli2 GLI family zinc finger 2 IEP RGD PMID:12947339 RGD:12801415 NCBI chr13:32,499,678...32,716,418
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
G Nog noggin ISO
ISS		 OMIM:189960 MouseDO
RGD		 PMID:17260385 RGD:12801454 NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,128,712...74,130,339 		JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:17200668 PMID:23824750 PMID:25741868 PMID:26283626 PMID:26315354 More... NCBI chr 1:186,096,312...186,120,284
Ensembl chr 1:176,665,076...176,688,990 		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 PMID:36135330 PMID:36474027 NCBI chr 2:126,533,436...126,691,879
Ensembl chr 2:124,605,658...124,764,065 		JBrowse link
G Shh sonic hedgehog signaling molecule IEP RGD PMID:25003913 RGD:12801416 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:6,954,017...6,963,170 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FG syndrome
DNA:missense mutation:exon:p.R28L (c.83G>T) (human)		 CTD
ClinVar
RGD		 PMID:25741868 PMID:19200522 RGD:11576290 NCBI chr  X:11,572,328...11,915,831
Ensembl chr  X:8,899,833...9,238,694 		JBrowse link
G Flna filamin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632775 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Med12 mediator complex subunit 12 ISO DNA:missense mutation:cds:2881C>T(p.R961W)(human)
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
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.G958E(human)		 ClinVar
CTD
RGD		 PMID:6711603 PMID:8279489 PMID:9536098 PMID:10405444 PMID:10982179 More... RGD:12910952, RGD:12910948 NCBI chr  X:70,444,615...70,467,780
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
FG Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxo4 forkhead box O4 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,425,218...70,432,120
Ensembl chr  X:66,385,558...66,392,115 		JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,541,845...70,549,776
Ensembl chr  X:66,501,820...66,509,925 		JBrowse link
G Il2rg interleukin 2 receptor subunit gamma ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,435,340...70,439,052
Ensembl chr  X:66,392,542...66,399,823 		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:70,612,118...70,617,158
Ensembl chr  X:66,572,537...66,577,174 		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:10405444 PMID:16700052 More... NCBI chr  X:70,444,615...70,467,780
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,469,251...70,497,380
Ensembl chr  X:66,429,458...66,451,876 		JBrowse link
G Nono non-POU domain containing, octamer-binding ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,594,116...70,611,976
Ensembl chr  X:66,554,098...66,571,952 		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:70,250,089...70,256,610
Ensembl chr  X:66,210,081...66,215,708 		JBrowse link
G Snx12 sorting nexin 12 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,267,013...70,396,948
Ensembl chr  X:66,227,053...66,356,950 		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:70,680,901...70,756,535
Ensembl chr  X:66,640,982...66,716,543 		JBrowse link
G Tex11 testis expressed 11 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:65,932,904...66,196,525
Ensembl chr  X:65,932,988...66,196,187 		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:70,568,573...70,584,221
Ensembl chr  X:66,528,585...66,544,782 		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:9071288 PMID:10982489 PMID:12612583 PMID:15523633 PMID:15917206 More... NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:152,007,758...152,031,052 		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:11,572,328...11,915,831
Ensembl chr  X:8,899,833...9,238,694 		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:25741868 PMID:34415310 NCBI chr11:97,113,390...97,234,374
Ensembl chr11:83,609,069...83,724,080 		JBrowse link
Goldberg-Shprintzen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,783,382...171,797,709
Ensembl chr 5:166,500,781...166,515,481 		JBrowse link
G Actrt2 actin-related protein T2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,518,470...170,519,870
Ensembl chr 5:165,236,086...165,237,629 		JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,031,528...172,064,429
Ensembl chr 5:166,749,310...166,786,003 		JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,680,597...171,682,854
Ensembl chr 5:166,397,748...166,400,953 		JBrowse link
G Arhgef16 Rho guanine nucleotide exchange factor 16 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,126,573...170,148,624
Ensembl chr 5:164,844,161...164,866,212 		JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,632,545...171,652,725
Ensembl chr 5:166,350,304...166,370,482 		JBrowse link
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,866,428...171,868,564
Ensembl chr 5:166,584,202...166,586,338 		JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,833,854...171,838,229
Ensembl chr 5:166,551,628...166,556,003 		JBrowse link
G C5h1orf159 similar to human chromosome 1 open reading frame 159 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:171,983,700...172,001,373
Ensembl chr 5:166,701,676...166,719,955 		JBrowse link
G Ccdc27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:169,867,706...169,881,820
Ensembl chr 5:164,585,267...164,599,355 		JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,698,951...171,711,037
Ensembl chr 5:166,417,508...166,436,882 		JBrowse link
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,495,042...171,521,143
Ensembl chr 5:166,212,829...166,238,876 		JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:169,817,383...169,849,681
Ensembl chr 5:164,534,782...164,567,248 		JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,252,907...171,328,351
Ensembl chr 5:165,979,805...166,046,071 		JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,757,181...171,761,271
Ensembl chr 5:166,474,966...166,479,017 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,738,911...171,750,967
Ensembl chr 5:166,456,686...166,468,664 		JBrowse link
G Faap20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,083,328...171,097,599
Ensembl chr 5:165,808,657...165,815,333 		JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,581,960...171,584,519
Ensembl chr 5:166,300,122...166,310,326 		JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,240,813...171,252,709
Ensembl chr 5:165,958,484...165,970,411 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,357,778...171,424,489
Ensembl chr 5:166,075,629...166,142,124 		JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,804,511...170,807,988
Ensembl chr 5:165,522,234...165,523,001 		JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,761,370...171,779,883
Ensembl chr 5:166,479,155...166,497,651 		JBrowse link
G Kifbp kinesin family binding protein ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome
OMIM:609460		 CTD
ClinVar
MouseDO
OMIM		 PMID:15883926 PMID:18414213 PMID:23427148 PMID:24072599 PMID:24901346 More... NCBI chr20:31,055,625...31,075,232
Ensembl chr20:30,512,901...30,532,476 		JBrowse link
G Lrrc47 leucine rich repeat containing 47 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:169,852,926...169,862,598
Ensembl chr 5:164,570,435...164,580,174 		JBrowse link
G Megf6 multiple EGF-like-domains 6 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,020,699...170,121,557
Ensembl chr 5:164,738,352...164,839,139 		JBrowse link
G Mib2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,526,037...171,542,479
Ensembl chr 5:166,243,776...166,259,650 		JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:171,930,717...171,930,805 JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:171,931,495...171,931,589
Ensembl chr 5:166,649,272...166,649,366 		JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:171,929,682...171,929,766
Ensembl chr 5:166,647,459...166,647,543 		JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,713,602...170,744,058
Ensembl chr 5:165,431,343...165,461,716 		JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,521,905...171,525,007
Ensembl chr 5:166,239,644...166,242,433 		JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,928,086...170,987,219
Ensembl chr 5:165,646,991...165,704,892 		JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,690,664...171,695,728
Ensembl chr 5:166,408,962...166,413,492 		JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,731,153...171,735,879
Ensembl chr 5:166,449,154...166,453,636 		JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,427,973...171,458,586
Ensembl chr 5:166,145,481...166,176,322 		JBrowse link
G Nek9 NIMA-related kinase 9 ISO ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome ClinVar PMID:25741868 NCBI chr 6:110,675,107...110,715,586
Ensembl chr 6:104,944,056...104,984,538 		JBrowse link
G Pank4 pantothenate kinase 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,807,744...170,824,478
Ensembl chr 5:165,525,402...165,542,135 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,910,136...170,915,302
Ensembl chr 5:165,627,799...165,632,965 		JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,826,543...170,885,012
Ensembl chr 5:165,544,200...165,602,356 		JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,162,275...170,486,371
Ensembl chr 5:164,880,587...165,203,601 		JBrowse link
G Prkcz protein kinase C, zeta ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,101,774...171,212,694
Ensembl chr 5:165,819,466...165,930,367 		JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,744,953...170,747,556 JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,773,284...171,782,893
Ensembl chr 5:166,496,755...166,500,611 		JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,916,643...170,929,073
Ensembl chr 5:165,634,300...165,646,750 		JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,005,566...172,008,456
Ensembl chr 5:166,724,984...166,725,751 		JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,868,591...171,885,827
Ensembl chr 5:166,586,390...166,604,521 		JBrowse link
G Ski Ski proto-oncogene ISO ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome		 ClinVar PMID:7977351 PMID:8449506 PMID:8981946 PMID:9536098 PMID:15979919 More... NCBI chr 5:170,995,851...171,064,957
Ensembl chr 5:165,714,093...165,782,733 		JBrowse link
G Slc35e2b solute carrier family 35, member E2B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,465,222...171,493,317
Ensembl chr 5:166,185,166...166,207,021 		JBrowse link
G Smim1 small integral membrane protein 1 (Vel blood group) ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:169,861,751...169,867,070 JBrowse link
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,595,919...171,625,675
Ensembl chr 5:166,313,650...166,343,429 		JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,750,937...171,754,993
Ensembl chr 5:166,469,589...166,472,742 		JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,625,830...171,653,836
Ensembl chr 5:166,344,386...166,350,636 		JBrowse link
G Tmem278 transmembrane protein 278 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,673,319...171,676,143
Ensembl chr 5:166,391,080...166,393,904 		JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,330,948...171,332,704
Ensembl chr 5:166,046,565...166,050,433 		JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,768,413...170,776,749
Ensembl chr 5:165,484,262...165,493,703 		JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:171,901,734...171,904,578
Ensembl chr 5:166,618,969...166,622,353 		JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,889,134...171,891,824
Ensembl chr 5:166,606,909...166,609,599 		JBrowse link
G Tp73 tumor protein p73 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:169,903,801...169,988,075
Ensembl chr 5:164,621,377...164,681,128 		JBrowse link
G Tprg1l tumor protein p63 regulated 1-like ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,004,577...170,007,784
Ensembl chr 5:164,710,285...164,725,425 		JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,693,410...170,711,215
Ensembl chr 5:165,411,058...165,428,857 		JBrowse link
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:171,912,371...171,937,733
Ensembl chr 5:166,630,152...166,653,707 		JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,815,607...171,830,037
Ensembl chr 5:166,533,418...166,547,804 		JBrowse link
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,659,694...171,664,880
Ensembl chr 5:166,377,455...166,382,637 		JBrowse link
G Wrap73 WD repeat containing, antisense to TP73 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:169,988,538...170,004,071
Ensembl chr 5:164,706,163...164,721,643 		JBrowse link
Hirschsprung Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More... NCBI chr 2:209,293,902...210,159,777
Ensembl chr 2:206,609,122...207,474,982 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:25741868 PMID:26559152 PMID:28492532 NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Lrba LPS responsive beige-like anchor protein ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:173,919,330...174,500,536
Ensembl chr 2:171,621,507...172,202,724 		JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 2:188,299,336...188,432,823
Ensembl chr 2:185,610,589...185,744,088 		JBrowse link
G Nrp2 neuropilin 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:25741868 NCBI chr 9:71,616,602...71,731,869
Ensembl chr 9:64,123,132...64,237,958 		JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:24357527 NCBI chr 7:112,592,977...112,604,681
Ensembl chr 7:110,712,572...110,724,234 		JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:2008030 PMID:2660074 PMID:2904651 PMID:3078962 PMID:7536460 More... NCBI chr 4:152,998,344...153,040,556
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
G Sema3d semaphorin 3D ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 4:23,271,815...23,460,971
Ensembl chr 4:22,316,779...22,505,930 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:24357527 NCBI chr 7:112,605,721...112,615,097
Ensembl chr 7:110,725,274...110,735,544 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:25741868 PMID:26017485 PMID:28492532 NCBI chr13:100,691,540...100,793,227
Ensembl chr13:98,160,087...98,261,405 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:10205261 PMID:15798777 PMID:17304050 PMID:22703879 PMID:24728327 More... NCBI chr10:14,125,679...14,160,317
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
Hirschsprung Disease Ganglioneuroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phox2b paired-like homeobox 2b ISO ClinVar Annotator: match by term: Hirschsprung disease ganglioneuroblastoma ClinVar PMID:11953745 PMID:12438263 PMID:15024693 PMID:15338462 PMID:17637745 More... NCBI chr14:41,420,011...41,424,527
Ensembl chr14:41,066,264...41,068,978 		JBrowse link
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ece1 endothelin converting enzyme 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ECE1-related condition | ClinVar Annotator: match by term: Hirschsprung disease, cardiac defects, and autonomic dysfunction		 CTD
OMIM
ClinVar		 PMID:8530372 PMID:9915973 PMID:25741868 PMID:28492532 PMID:34298581 NCBI chr 5:155,361,031...155,462,723
Ensembl chr 5:150,077,644...150,179,371 		JBrowse link
Hirschsprung's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ache acetylcholinesterase ISO RGD PMID:21991983 RGD:5509847 NCBI chr12:25,042,882...25,050,608
Ensembl chr12:19,407,360...19,413,651 		JBrowse link
G Aebp2 AE binding protein 2 ISS OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 MouseDO NCBI chr 4:175,258,286...175,297,149
Ensembl chr 4:173,528,344...173,593,100 		JBrowse link
G Ahnak AHNAK nucleoprotein ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:215,311,289...215,400,010
Ensembl chr 1:205,882,273...205,970,926 		JBrowse link
G Axin2 axin 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21626677 PMID:25260786 PMID:25637381 PMID:25741868 PMID:27696107 More... NCBI chr10:94,393,379...94,426,579
Ensembl chr10:93,899,245...93,926,231 		JBrowse link
G Bmi1 BMI1 proto-oncogene, polycomb ring finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:29429387 NCBI chr17:86,240,683...86,250,044
Ensembl chr17:81,332,214...81,388,690 		JBrowse link
G Cavin2 caveolae associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25792468 NCBI chr 9:57,794,007...57,806,024
Ensembl chr 9:50,301,206...50,314,147 		JBrowse link
G Ccr9 C-C motif chemokine receptor 9 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 8:132,273,581...132,287,651
Ensembl chr 8:123,395,813...123,413,969 		JBrowse link
G Cd14 CD14 molecule IEP protein:increased expression:intestine: RGD PMID:15117676 RGD:7193054 NCBI chr18:28,609,558...28,611,409
Ensembl chr18:28,335,340...28,337,261 		JBrowse link
G Cluh clustered mitochondria homolog ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr10:60,008,052...60,029,742
Ensembl chr10:59,509,726...59,531,345 		JBrowse link
G Cntn5 contactin 5 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 8:15,017,424...16,249,418
Ensembl chr 8:6,738,239...7,967,957 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Csmd3 CUB and Sushi multiple domains 3 ISO ClinVar Annotator: match by term: CSMD3-associated Hirschsprung disease ClinVar NCBI chr 7:80,637,341...81,956,469
Ensembl chr 7:78,748,480...80,066,369 		JBrowse link
G Dennd3 DENN domain containing 3 ISO ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 7:107,304,860...107,362,573
Ensembl chr 7:105,415,677...105,473,592 		JBrowse link
G Depdc1 DEP domain containing 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 2:251,343,250...251,376,709
Ensembl chr 2:248,684,523...248,717,951 		JBrowse link
G Dppa5 developmental pluripotency associated 5 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 8:88,095,627...88,097,936
Ensembl chr 8:79,215,362...79,216,570
Ensembl chr 7:79,215,362...79,216,570
Ensembl chr 1:79,215,362...79,216,570
Ensembl chr 3:79,215,362...79,216,570 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More... NCBI chr 2:209,293,902...210,159,777
Ensembl chr 2:206,609,122...207,474,982 		JBrowse link
G Dscam DS cell adhesion molecule ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr11:49,391,385...49,976,861
Ensembl chr11:35,926,896...36,507,415 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:12,473,955...12,697,075
Ensembl chr 8:4,189,257...4,412,183 		JBrowse link
G Ece1 endothelin converting enzyme 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aganglionic megacolon		 CTD
ClinVar		 PMID:9915973 NCBI chr 5:155,361,031...155,462,723
Ensembl chr 5:150,077,644...150,179,371 		JBrowse link
G Edn3 endothelin 3 ISO
ISS		 DNA:point mutation:exon:A17T, A224T
OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644
ClinVar Annotator: match by term: EDN3-related condition | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4
CTD Direct Evidence: marker/mechanism		 MouseDO
OMIM
ClinVar
CTD
RGD		 PMID:8630502 PMID:8630503 PMID:8696331 PMID:8896568 PMID:9359047 More... RGD:1601003 NCBI chr 3:183,980,458...184,004,958
Ensembl chr 3:163,562,520...163,585,093 		JBrowse link
G Ednrb endothelin receptor type B treatment
susceptibility		 IMP
ISS
ISO
IAGP		 OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Recessive | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2
CTD Direct Evidence: marker/mechanism
DNA:point mutation:exon:W276C		 MouseDO
ClinVar
OMIM
CTD
RGD		 PMID:8001158 PMID:8001159 PMID:8852658 PMID:8852659 PMID:8852660 More... RGD:628516, RGD:6480215, RGD:6480217, RGD:1601008, RGD:1342447 NCBI chr15:87,055,490...87,086,765
Ensembl chr15:80,643,043...80,672,115 		JBrowse link
G Ednrbsl endothelin receptor type B, spotting lethal IAGP RGD PMID:21915282 PMID:22132166 RGD:6480217, RGD:6480215
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO
ISS		 OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 MouseDO
RGD		 PMID:12526770 RGD:734940 NCBI chr10:83,907,491...83,931,365
Ensembl chr10:83,411,313...83,435,078 		JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr13:79,046,657...79,116,247
Ensembl chr13:76,513,255...76,582,317 		JBrowse link
G Fat3 FAT atypical cadherin 3 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 8:20,972,840...21,555,679
Ensembl chr 8:12,694,019...13,273,135 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 PMID:26559152 PMID:28492532 NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Fmn2 formin 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr13:88,986,863...89,303,789
Ensembl chr13:86,453,926...86,771,411 		JBrowse link
G Gdnf glial cell derived neurotrophic factor susceptibility ISO
ISS		 CTD Direct Evidence: marker/mechanism
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:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644		 CTD
ClinVar
MouseDO
OMIM		 PMID:8896568 PMID:8896569 PMID:8968758 PMID:9215674 PMID:9359036 More... NCBI chr 2:58,621,327...58,647,242
Ensembl chr 2:56,895,010...56,917,209 		JBrowse link
G Gfra1 GDNF family receptor alpha 1 ISO
ISS		 ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712		 ClinVar
MouseDO
RGD		 PMID:17507417 RGD:6218967 NCBI chr 1:267,325,297...267,557,037
Ensembl chr 1:257,321,742...257,551,473 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:9302279 PMID:25741868 PMID:28492532 NCBI chr17:54,134,064...54,405,198
Ensembl chr17:49,438,567...49,709,712 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:missense mutation:cds:p.K173N (human) (rs1065411) RGD PMID:20661602 RGD:12792222 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:missense mutation:cds:p.V155I (human) (rs2266637) RGD PMID:20661602 RGD:12792222 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Hdac8 histone deacetylase 8 ISO protein:decreased expression:colon (human) RGD PMID:16771768 RGD:13208819 NCBI chr  X:71,425,240...71,632,865
Ensembl chr  X:67,385,289...67,592,923 		JBrowse link
G Ihh Indian hedgehog signaling molecule ISS
ISO		 OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712
ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1		 MouseDO
ClinVar		 NCBI chr 9:83,952,986...83,959,203
Ensembl chr 9:76,504,315...76,510,532 		JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:28492532 NCBI chr16:76,021,968...76,075,717
Ensembl chr16:69,319,554...69,373,250 		JBrowse link
G Iqcf5 IQ motif containing F5 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 8:116,030,180...116,031,565
Ensembl chr 8:107,151,462...107,152,869 		JBrowse link
G Irak3 interleukin-1 receptor-associated kinase 3 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:28492532 NCBI chr 7:57,538,522...57,600,166
Ensembl chr 7:55,653,962...55,713,121 		JBrowse link
G Itgb1 integrin subunit beta 1 ISS OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 MouseDO NCBI chr19:73,602,277...73,650,271
Ensembl chr19:56,705,171...56,753,195 		JBrowse link
G Kdr kinase insert domain receptor ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:24728327 PMID:28492532 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO protein:decreased expression:intestine smooth muscle"
protein:decreased expression:aganglionic colon:		 RGD PMID:9247236 PMID:8831584 RGD:12910747, RGD:12910727 NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,548,877...32,624,652 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar
RGD		 PMID:28492532 PMID:21395909 RGD:6483043 NCBI chr  X:156,748,597...156,775,116
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Lrba LPS responsive beige-like anchor protein ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:173,919,330...174,500,536
Ensembl chr 2:171,621,507...172,202,724 		JBrowse link
G Lztfl1 leucine zipper transcription factor-like 1 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 8:132,222,339...132,237,757
Ensembl chr 8:123,344,925...123,360,192 		JBrowse link
G Man2a2 mannosidase, alpha, class 2A, member 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 1:143,712,157...143,736,624
Ensembl chr 1:134,306,236...134,327,315 		JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr11:96,784,974...96,859,635
Ensembl chr11:83,280,762...83,355,362 		JBrowse link
G Mgam2 maltase-glucoamylase 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 4:70,590,706...70,682,462
Ensembl chr 4:69,637,799...69,683,742 		JBrowse link
G Mir128-1 microRNA 128-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29429387 NCBI chr13:42,251,884...42,251,965
Ensembl chr13:39,699,449...39,699,530 		JBrowse link
G Mir195 microRNA 195 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25007945 NCBI chr10:55,450,495...55,450,581
Ensembl chr10:54,951,838...54,951,924 		JBrowse link
G Mir206 microRNA 206 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25792468 NCBI chr 9:30,590,697...30,590,780
Ensembl chr 9:23,094,249...23,094,332 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:25741868 NCBI chr 3:97,550,974...97,569,216
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Nav2 neuron navigator 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 1:107,799,968...108,458,546
Ensembl chr 1:98,663,759...99,322,337 		JBrowse link
G Ncln nicalin ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 7:8,862,324...8,872,699
Ensembl chr 7:8,211,996...8,221,934 		JBrowse link
G Ngfr nerve growth factor receptor ISO protein:decreased expression:lamina propria:lack of staining is a marker for HD (human) RGD PMID:7807351 RGD:5508387 NCBI chr10:81,012,077...81,030,305
Ensembl chr10:80,515,299...80,533,518 		JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 2:188,299,336...188,432,823
Ensembl chr 2:185,610,589...185,744,088 		JBrowse link
G Notch4 notch receptor 4 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr20:4,164,969...4,189,072
Ensembl chr20:4,160,445...4,184,465 		JBrowse link
G Nrg1 neuregulin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22974608 NCBI chr16:65,954,084...67,007,484
Ensembl chr16:59,250,854...60,296,884 		JBrowse link
G Nrg3 neuregulin 3 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:25741868 PMID:28492532 NCBI chr16:14,256,540...15,374,107
Ensembl chr16:14,235,157...15,352,368 		JBrowse link
G Nrp2 neuropilin 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr 9:71,616,602...71,731,869
Ensembl chr 9:64,123,132...64,237,958 		JBrowse link
G Nrtn neurturin ISO RGD PMID:9700200 RGD:1600267 NCBI chr 9:1,669,099...1,674,957
Ensembl chr 9:1,581,975...1,583,102 		JBrowse link
G Ntf3 neurotrophin 3 ISO ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr 4:160,601,161...160,670,623
Ensembl chr 4:158,914,957...158,984,596 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO protein:altered expression:intestine RGD PMID:8943115 RGD:5684546 NCBI chr 2:175,534,844...175,551,664
Ensembl chr 2:173,236,963...173,253,770 		JBrowse link
G Nup98 nucleoporin 98 and 96 precursor ISO ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 1:165,906,405...166,003,366
Ensembl chr 1:156,494,423...156,591,415 		JBrowse link
G Oas3 2'-5'-oligoadenylate synthetase 3 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr12:41,439,645...41,463,392
Ensembl chr12:35,779,022...35,802,781 		JBrowse link
G Or1f34 olfactory receptor family 1 subfamily F member 34 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr10:12,830,814...12,839,442
Ensembl chr10:12,333,860...12,334,801 		JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:28492532 NCBI chr 1:211,866,872...211,998,828
Ensembl chr 1:202,437,505...202,569,473 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr20:13,996,383...15,495,206
Ensembl chr20:13,963,565...15,494,719 		JBrowse link
G Pcdha1 protocadherin alpha 1 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha10 protocadherin alpha 10 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha11 protocadherin alpha 11 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha12 protocadherin alpha 12 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha13 protocadherin alpha 13 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha2 protocadherin alpha 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha3 protocadherin alpha 3 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha4 protocadherin alpha 4 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr18:28,688,274...29,120,227
Ensembl chr18:28,581,225...28,846,211 		JBrowse link
G Pcdha5 protocadherin alpha 5 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha6 protocadherin alpha 6 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha7 protocadherin alpha 7 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha8 protocadherin alpha 8 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha9 protocadherin alpha 9 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdhac1 protocadherin alpha subfamily C, 1 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdhac2 protocadherin alpha subfamily C, 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pgrmc2 progesterone receptor membrane component 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 2:125,996,190...126,012,090
Ensembl chr 2:124,068,260...124,084,155 		JBrowse link
G Phax phosphorylated adaptor for RNA export ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr18:52,251,231...52,267,916
Ensembl chr18:50,053,023...50,069,823 		JBrowse link
G Phox2b paired-like homeobox 2b ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr14:41,420,011...41,424,527
Ensembl chr14:41,066,264...41,068,978 		JBrowse link
G Phrf1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 1:205,763,264...205,796,478
Ensembl chr 1:196,333,903...196,366,892 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:25741868 NCBI chr 5:62,040,979...62,052,067
Ensembl chr 5:57,245,166...57,254,146 		JBrowse link
G Plau plasminogen activator, urokinase ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr15:3,505,485...3,511,987
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:24357527 NCBI chr 7:112,592,977...112,604,681
Ensembl chr 7:110,712,572...110,724,234 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr12:26,587,674...26,655,612
Ensembl chr12:20,951,058...20,999,245 		JBrowse link
G Prokr1 prokineticin receptor 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 4:121,579,630...121,590,695
Ensembl chr 4:120,021,747...120,033,379 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:16231297 PMID:23334667 PMID:24728327 PMID:26467025 PMID:26559152 More... NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Ret ret proto-oncogene ISO
ISS		 ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4
OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, 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, 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, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4
DNA:SNPs:exon, intron:multiple
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
OMIM
CTD
RGD		 PMID:2008030 PMID:2639553 PMID:2660074 PMID:2904651 PMID:3078962 More... RGD:12910713 NCBI chr 4:152,998,344...153,040,556
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
G Sema3d semaphorin 3D ISO ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:23,271,815...23,460,971
Ensembl chr 4:22,316,779...22,505,930 		JBrowse link
G Serpinf1 serpin family F member 1 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:20972907 RGD:12801434 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
G Slc22a1 solute carrier family 22 member 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 1:50,624,339...50,651,437
Ensembl chr 1:48,076,666...48,103,678 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:10975929 RGD:12879497 NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
G Snf8 SNF8 subunit of ESCRT-II ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr10:81,481,054...81,493,430
Ensembl chr10:80,984,363...80,996,734 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO DNA:frameshift:cds:
ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1		 ClinVar
RGD		 PMID:24357527 PMID:9560246 RGD:12802335 NCBI chr 7:112,605,721...112,615,097
Ensembl chr 7:110,725,274...110,735,544 		JBrowse link
G Stx1a syntaxin 1A ISO RGD PMID:11345516 RGD:1581432 NCBI chr12:27,278,517...27,306,547
Ensembl chr12:21,641,969...21,669,930 		JBrowse link
G Tbata thymus, brain and testes associated ISO ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr20:29,660,904...29,677,971
Ensembl chr20:29,118,070...29,135,109 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:25741868 PMID:26017485 PMID:28492532 NCBI chr13:100,691,540...100,793,227
Ensembl chr13:98,160,087...98,261,405 		JBrowse link
G Thbs4 thrombospondin 4 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 2:25,718,219...25,760,345
Ensembl chr 2:23,983,158...24,026,313 		JBrowse link
G Tmem165 transmembrane protein 165 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr14:32,347,688...32,372,916
Ensembl chr14:31,993,493...32,018,717 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar PMID:10205261 PMID:15798777 PMID:17304050 PMID:22703879 PMID:24728327 More... NCBI chr10:14,125,679...14,160,317
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
G Utp25 UTP25 small subunit processome component ISO CTD Direct Evidence: marker/mechanism CTD PMID:25007945 NCBI chr13:107,159,092...107,180,361
Ensembl chr13:104,630,391...104,651,662 		JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:3,315,069...3,404,891
Ensembl chr15:3,265,815...3,355,606 		JBrowse link
G Wnt8b Wnt family member 8B ISO RGD PMID:20972907 RGD:12801434 NCBI chr 1:253,303,369...253,325,224
Ensembl chr 1:243,354,086...243,374,286 		JBrowse link
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr10:61,082,934...61,120,618
Ensembl chr10:60,584,652...60,671,589 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO Mowat-Wilson syndrome, OMIM:235730
ClinVar Annotator: match by term: Aganglionic megacolon		 ClinVar
RGD		 PMID:11279515 RGD:1599885 NCBI chr 3:49,624,028...49,754,323
Ensembl chr 3:29,218,301...29,345,157 		JBrowse link
G Zfp592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar NCBI chr 1:144,355,227...144,411,686
Ensembl chr 1:134,967,783...135,002,443 		JBrowse link
G Zhx2 zinc fingers and homeoboxes 2 ISO ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 ClinVar NCBI chr 7:91,115,894...91,263,823
Ensembl chr 7:89,226,463...89,374,378 		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 chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Cul9 cullin 9 ISO ClinVar Annotator: match by term: Imperforate anus ClinVar PMID:25741868 NCBI chr 9:21,933,699...21,977,145
Ensembl chr 9:14,436,111...14,479,548 		JBrowse link
G Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 ISO ClinVar Annotator: match by term: Imperforate anus ClinVar NCBI chr 9:49,696,573...49,822,353
Ensembl chr 9:42,200,278...42,326,698 		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:70,444,615...70,467,780
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:224,263,823...224,694,350
Ensembl chr 1:214,837,927...215,267,600 		JBrowse link
G Robo1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Imperforate anus ClinVar PMID:25741868 NCBI chr11:24,067,869...25,108,694
Ensembl chr11:10,580,908...11,620,203 		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 ISS MouseDO NCBI chr 2:52,533,939...52,610,980
Ensembl chr 2:50,800,992...50,876,866 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISS MouseDO NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:184,745,420...184,850,626 		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 9:30,040,466...30,533,834
Ensembl chr 9:22,549,513...23,037,381 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders		 OMIM
CTD
ClinVar		 PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532 NCBI chr 3:177,891,705...177,909,743
Ensembl chr 3:157,474,642...157,490,822 		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
ISS		 ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: UBR1-related condition
OMIM:243800
CTD Direct Evidence: marker/mechanism
DNA:splice-site mutation:cds:IVS26+5G>A (human)
DNA:mutation:exon:exon 15, c.1759C>T, p.Q587X (human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:16311597 PMID:18553553 PMID:19006206 PMID:19058315 PMID:20556423 More... RGD:155882462, RGD:155882463 NCBI chr 3:128,265,160...128,377,830
Ensembl chr 3:107,811,392...107,922,204 		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 X, 6 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 chr20:31,562,490...31,615,967
Ensembl chr20:31,019,829...31,073,147 		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 X, 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitchell-Riley syndrome | ClinVar Annotator: match by term: RFX6-related condition		 OMIM
CTD
ClinVar		 PMID:15592663 PMID:18414213 PMID:18512226 PMID:19887127 PMID:20148032 More... NCBI chr20:31,562,490...31,615,967
Ensembl chr20:31,019,829...31,073,147 		JBrowse link
Mowat-Wilson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp activity-dependent neuroprotector homeobox ISO ClinVar Annotator: match by term: Hirschsprung disease mental retardation syndrome ClinVar PMID:25741868 NCBI chr 3:177,310,258...177,340,379
Ensembl chr 3:156,891,381...156,917,312 		JBrowse link
G Arhgap15 Rho GTPase activating protein 15 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:48,382,945...49,002,213
Ensembl chr 3:27,989,633...28,600,265 		JBrowse link
G Gtdc1 glycosyltransferase-like domain containing 1 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar PMID:12920073 NCBI chr 3:49,176,110...49,571,594
Ensembl chr 3:28,766,645...29,162,271 		JBrowse link
G Hnmt histamine N-methyltransferase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:26,978,274...27,010,291
Ensembl chr 3:6,591,463...6,624,012 		JBrowse link
G Kynu kynureninase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:48,188,286...48,338,996
Ensembl chr 3:27,778,772...27,929,488 		JBrowse link
G Lrp1b LDL receptor related protein 1B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:45,004,001...47,125,147
Ensembl chr 3:24,594,991...26,715,505 		JBrowse link
G Nxph2 neurexophilin 2 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:26,373,858...26,392,392
Ensembl chr 3:5,756,621...5,987,008 		JBrowse link
G Spopl speckle type BTB/POZ protein like ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:26,478,535...26,552,344
Ensembl chr 3:6,078,310...6,108,794 		JBrowse link
G Thsd7b thrombospondin type 1 domain containing 7B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr13:43,320,895...44,219,546
Ensembl chr13:40,768,570...41,666,501 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO
ISS		 OMIM:235730
ClinVar Annotator: match by term: Hirschsprung disease mental retardation syndrome | ClinVar Annotator: match by term: Mowat-Wilson syndrome | ClinVar Annotator: match by term: ZEB2-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD		 PMID:2030158 PMID:9536098 PMID:9719364 PMID:11279515 PMID:11448942 More... NCBI chr 3:49,624,028...49,754,323
Ensembl chr 3:29,218,301...29,345,157 		JBrowse link
G Zeb2-as1 ZEB2 antisense RNA 1 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar PMID:12920073 NCBI chr 3:49,752,502...49,755,379 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 6:12,845,170...12,857,830
Ensembl chr 6:7,091,567...7,104,287
Ensembl chr15:7,091,567...7,104,287 		JBrowse link
G Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: Multiple gastrointestinal atresias | ClinVar Annotator: match by term: TTC7A-related condition ClinVar PMID:23830146 PMID:24292712 PMID:25741868 PMID:28492532 NCBI chr 6:13,028,036...13,039,388
Ensembl chr 6:7,274,469...7,285,841 		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 6:12,860,749...12,912,206
Ensembl chr 6:7,108,869...7,151,390 		JBrowse link
G Ttc7a tetratricopeptide repeat domain 7A ISO 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 | ClinVar Annotator: match by term: TTC7A-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23423984 PMID:23830146 More... NCBI chr 6:12,912,822...13,015,374
Ensembl chr 6:7,159,061...7,261,892 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mungan syndrome		 OMIM
CTD
ClinVar		 PMID:14638363 PMID:18414213 PMID:25575569 PMID:25741868 PMID:28492532 NCBI chr 7:85,177,715...85,204,657
Ensembl chr 7:83,287,870...83,314,817 		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 chr18:75,846,860...75,871,638
Ensembl chr18:73,571,936...73,628,484 		JBrowse link
G Atp9b ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:76,451,821...76,643,931
Ensembl chr18:74,176,863...74,368,953 		JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:76,129,243...76,193,404
Ensembl chr18:73,854,282...73,916,457 		JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:78,046,803...78,062,359
Ensembl chr18:75,772,023...75,787,577 		JBrowse link
G Hsbp1l1 heat shock factor binding protein 1-like 1 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:75,957,266...75,963,024
Ensembl chr18:73,682,286...73,688,045 		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 chr18:76,017,225...76,085,377
Ensembl chr18:73,743,074...73,808,723 		JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:78,130,652...78,241,174
Ensembl chr18:75,855,878...75,966,404 		JBrowse link
G Nfatc1 nuclear factor of activated T-cells 1 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:76,321,386...76,430,997
Ensembl chr18:74,046,904...74,156,028 		JBrowse link
G Pard6g par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:75,772,992...75,840,041
Ensembl chr18:73,498,021...73,565,029 		JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:75,914,247...75,923,893
Ensembl chr18:73,639,260...73,648,915 		JBrowse link
G Sall3 spalt-like transcription factor 3 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:76,680,997...76,700,905
Ensembl chr18:74,407,560...74,426,789 		JBrowse link
G Slc66a2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:75,976,000...76,014,651
Ensembl chr18:73,702,564...73,739,676 		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 chr18:75,934,085...75,949,873
Ensembl chr18:73,659,107...73,674,893 		JBrowse link
G Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:78,251,248...78,351,037
Ensembl chr18:75,978,231...76,073,737 		JBrowse link
G Zfp516 zinc finger protein 516 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:78,561,069...78,661,263
Ensembl chr18:76,302,096...76,385,269 		JBrowse link
PCWH syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpz myelin protein zero ISS OMIM:609136 MouseDO NCBI chr13:86,103,290...86,109,156
Ensembl chr13:83,570,811...83,576,679 		JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: PCWH syndrome | ClinVar Annotator: match by term: Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease ClinVar PMID:1636383 PMID:9462749 PMID:10482261 PMID:10762540 PMID:11026454 More... NCBI chr 7:112,592,977...112,604,681
Ensembl chr 7:110,712,572...110,724,234 		JBrowse link
G Sox10 SRY-box transcription factor 10 severity ISO
ISS		 OMIM:609136
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PCWH syndrome | ClinVar Annotator: match by term: Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		 OMIM
MouseDO
CTD
ClinVar
RGD		 PMID:1636383 PMID:9462749 PMID:10482261 PMID:10762540 PMID:11026454 More... RGD:12802339 NCBI chr 7:112,605,721...112,615,097
Ensembl chr 7:110,725,274...110,735,544 		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 PMID:24524909 RGD:12801442, RGD:12801442 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:6,954,017...6,963,170 		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: CENPF-related condition | ClinVar Annotator: match by term: Stromme syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8261651 PMID:25564561 PMID:25741868 PMID:25741878 PMID:28407396 More... NCBI chr13:103,715,344...103,760,931
Ensembl chr13:101,184,127...101,229,669 		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 chr 2:117,413,206...117,436,758
Ensembl chr 2:115,492,285...115,508,401 		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 chr 2:118,593,881...118,631,584
Ensembl chr 2:116,665,261...116,703,350 		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 PMID:17522144 PMID:19921648 PMID:22382802 PMID:23701296 More... NCBI chr 2:118,851,497...118,875,813
Ensembl chr 2:116,923,272...116,945,264 		JBrowse link
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 2:118,812,287...118,865,813
Ensembl chr 2:116,884,248...116,937,590 		JBrowse link
G Mrpl47 mitochondrial ribosomal protein L47 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 2:115,507,842...115,520,093
Ensembl chr 2:115,500,264...115,518,994 		JBrowse link
G Ndufb5 NADH:ubiquinone oxidoreductase subunit B5 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 2:117,447,605...117,461,943
Ensembl chr 2:115,519,154...115,533,589 		JBrowse link
G Pex5l peroxisomal biogenesis factor 5-like ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 2:117,623,199...117,836,772
Ensembl chr 2:115,700,972...115,913,628 		JBrowse link
G Six6 SIX homeobox 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548 		JBrowse link
G Six6os1 Six6 opposite strand transcript 1 ISO ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:97,314,829...97,351,069
Ensembl chr 6:91,579,325...91,615,148 		JBrowse link
G Sox2 SRY-box transcription factor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia | ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome		 OMIM
CTD
ClinVar		 PMID:12002146 PMID:12612584 PMID:15346919 PMID:15389708 PMID:15812812 More... NCBI chr 2:119,465,131...119,467,542
Ensembl chr 2:117,536,929...117,539,338 		JBrowse link
G Ttc14 tetratricopeptide repeat domain 14 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 2:118,581,779...118,600,361
Ensembl chr 2:116,653,595...116,664,158 		JBrowse link
G Usp13 ubiquitin specific peptidase 13 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 2:117,502,811...117,617,049
Ensembl chr 2:115,577,091...115,686,222 		JBrowse link
Total Intestinal Aganglionosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednrb endothelin receptor type B IAGP
ISO		 ClinVar Annotator: match by term: Aganglionosis, total intestinal ClinVar
RGD		 PMID:14633923 PMID:16944573 PMID:17554617 PMID:18162831 PMID:20127975 More... RGD:6480217, RGD:6480215 NCBI chr15:87,055,490...87,086,765
Ensembl chr15:80,643,043...80,672,115 		JBrowse link
G Ednrbsl endothelin receptor type B, spotting lethal IAGP RGD PMID:21915282 PMID:22132166 RGD:6480217, RGD:6480215
Townes-Brocks syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy7 adenylate cyclase 7 ISO ClinVar Annotator: match by term: Townes syndrome ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr19:34,913,154...34,972,366
Ensembl chr19:18,740,875...18,776,311 		JBrowse link
G Brd7 bromodomain containing 7 ISO ClinVar Annotator: match by term: Townes syndrome ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr19:34,882,238...34,910,944
Ensembl chr19:18,709,022...18,737,494 		JBrowse link
G Cnep1r1 CTD nuclear envelope phosphatase 1 regulatory subunit 1 ISO ClinVar Annotator: match by term: Townes syndrome ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr19:18,932,631...18,947,667
Ensembl chr19:18,932,682...18,947,667 		JBrowse link
G Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Townes syndrome ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr19:34,487,491...34,547,311
Ensembl chr19:18,314,019...18,373,658 		JBrowse link
G Dact1 dishevelled-binding antagonist of beta-catenin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:95,526,645...95,538,625
Ensembl chr 6:89,790,644...89,817,906 		JBrowse link
G Heatr3 HEAT repeat containing 3 ISO ClinVar Annotator: match by term: Townes syndrome ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr19:35,065,915...35,103,779
Ensembl chr19:18,893,144...18,930,509 		JBrowse link
G Nkd1 NKD inhibitor of WNT signaling pathway 1 ISO ClinVar Annotator: match by term: Townes syndrome ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr19:34,649,803...34,722,846
Ensembl chr19:18,476,344...18,549,380 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO ClinVar Annotator: match by term: Townes syndrome ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr19:34,555,832...34,596,281
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
G Sall1 spalt-like transcription factor 1 ISO
ISS		 OMIM:107480
ClinVar Annotator: match by term: SALL1-related condition | ClinVar Annotator: match by term: Townes syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD		 PMID:8133838 PMID:9425907 PMID:9536098 PMID:9973281 PMID:10533063 More... NCBI chr19:34,179,316...34,196,278
Ensembl chr19:18,007,503...18,022,705 		JBrowse link
G Snx20 sorting nexin 20 ISO ClinVar Annotator: match by term: Townes syndrome ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr19:18,435,935...18,445,108
Ensembl chr19:18,435,935...18,445,107 		JBrowse link
G Tent4b terminal nucleotidyltransferase 4B ISO ClinVar Annotator: match by term: Townes syndrome ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr19:34,984,244...35,042,423
Ensembl chr19:18,807,525...18,869,537 		JBrowse link
G Zfp423 zinc finger protein 423 ISO ClinVar Annotator: match by term: Townes syndrome ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr19:35,282,149...35,580,775
Ensembl chr19:19,110,238...19,407,373 		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: DACT1-related condition | ClinVar Annotator: match by term: Townes-Brocks syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28054444 PMID:28492532 PMID:36066768 NCBI chr 6:95,526,645...95,538,625
Ensembl chr 6:89,790,644...89,817,906 		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 chr19:34,179,316...34,196,278
Ensembl chr19:18,007,503...18,022,705 		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 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr 5:158,798,503...158,799,451
Ensembl chr 5:153,515,376...153,522,508 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr 8:12,473,955...12,697,075
Ensembl chr 8:4,189,257...4,412,183 		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 chr14:104,449,403...104,515,297
Ensembl chr14:100,248,875...100,314,255 		JBrowse link
G Fn1 fibronectin 1 IEP protein:increased expression:embryo RGD PMID:14986037 RGD:7205466 NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:73,196,044...73,264,678 		JBrowse link
G Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:2629409 PMID:26294094 NCBI chr19:66,062,635...66,066,427
Ensembl chr19:49,153,699...49,157,738 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO RGD PMID:11172440 RGD:155791680 NCBI chr13:32,499,678...32,716,418
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO RGD PMID:11172440 RGD:155791680 NCBI chr17:54,134,064...54,405,198
Ensembl chr17:49,438,567...49,709,712 		JBrowse link
G Hoxd13 homeo box D13 ISO ClinVar Annotator: match by term: VACTERL association
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:19006232 NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:59,570,646...59,573,963 		JBrowse link
G Ift172 intraflagellar transport 172 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr 6:30,801,841...30,841,239
Ensembl chr 6:25,081,980...25,120,860 		JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:188,299,336...188,432,823
Ensembl chr 2:185,610,589...185,744,088 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO
ISS		 DNA:mutation:exon:p.C470R(mouse)
OMIM:192350 | OMIM:276950
CTD Direct Evidence: marker/mechanism		 MouseDO
CTD
RGD		 PMID:18519639 PMID:18519639 RGD:11556208 NCBI chr 1:224,263,823...224,694,350
Ensembl chr 1:214,837,927...215,267,600 		JBrowse link
G Qsox1 quiescin sulfhydryl oxidase 1 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr13:70,500,060...70,537,711
Ensembl chr13:67,949,780...67,987,459 		JBrowse link
G Shh sonic hedgehog signaling molecule IEP RGD PMID:12632369 RGD:12801426 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr20:35,902,281...36,133,161
Ensembl chr20:35,359,863...35,590,415 		JBrowse link
G Trap1 TNF receptor-associated protein 1 ISO ClinVar Annotator: match by term: VACTERL association ClinVar PMID:25741868 NCBI chr10:11,971,259...12,005,306
Ensembl chr10:11,464,821...11,498,981 		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 chr10:1,022,041...1,162,431
Ensembl chr10:531,812...655,114 		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 1:105,583,681...105,637,895
Ensembl chr 1:96,447,251...96,501,464 		JBrowse link
G Abhd11 abhydrolase domain containing 11 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,682,206...21,685,331
Ensembl chr12:21,682,202...21,685,398 		JBrowse link
G Abhd11-as1 ABHD11 antisense RNA 1 (tail to tail) ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,681,118...21,682,106 JBrowse link
G Adnp2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:75,846,860...75,871,638
Ensembl chr18:73,571,936...73,628,484 		JBrowse link
G Atp9b ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:76,451,821...76,643,931
Ensembl chr18:74,176,863...74,368,953 		JBrowse link
G Baz1b bromodomain adjacent to zinc finger domain, 1B ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:27,068,541...27,126,511
Ensembl chr12:21,431,985...21,490,426 		JBrowse link
G Bcl7b BAF chromatin remodeling complex subunit BCL7B ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:27,133,412...27,146,631
Ensembl chr12:21,496,856...21,510,202 		JBrowse link
G Bmerb1 bMERB domain containing 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr10:2,286,999...2,453,890
Ensembl chr10:1,779,835...1,946,575 		JBrowse link
G Bud23 BUD23, rRNA methyltransferase and ribosome maturation factor ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,629,551...21,640,758
Ensembl chr12:21,629,536...21,640,751 		JBrowse link
G C18h18orf63 similar to human chromosome 18 open reading frame 63 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:80,434,363...80,477,235
Ensembl chr18:78,164,661...78,202,326 		JBrowse link
G Cbln2 cerebellin 2 precursor ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:82,215,210...82,222,648
Ensembl chr18:79,942,590...79,947,855 		JBrowse link
G Cd226 CD226 molecule ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:84,723,330...84,819,836
Ensembl chr18:82,450,568...82,543,051 		JBrowse link
G Cep20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr10:1,221,294...1,243,144
Ensembl chr10:714,151...736,837 		JBrowse link
G Cldn3 claudin 3 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:27,345,075...27,346,547
Ensembl chr12:21,708,398...21,711,001 		JBrowse link
G Cldn4 claudin 4 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:27,388,160...27,389,958
Ensembl chr12:21,751,331...21,753,436 		JBrowse link
G Clip2 CAP-GLY domain containing linker protein 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:27,798,289...27,863,486
Ensembl chr12:22,163,218...22,227,023 		JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:80,254,499...80,305,845
Ensembl chr18:77,984,907...78,007,765 		JBrowse link
G Cndp2 carnosine dipeptidase 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:80,314,799...80,331,900
Ensembl chr18:78,039,932...78,056,922 		JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:76,129,243...76,193,404
Ensembl chr18:73,854,282...73,916,457 		JBrowse link
G Cyb5a cytochrome b5 type A ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:80,487,923...80,520,544
Ensembl chr18:78,202,342...78,258,535
Ensembl chr18:78,202,342...78,258,535 		JBrowse link
G Dipk1c divergent protein kinase domain 1C ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:78,087,972...78,109,910
Ensembl chr18:78,087,991...78,109,904 		JBrowse link
G Dmrtc1a DMRT-like family C1a ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr  X:67,822,187...67,852,572
Ensembl chr  X:67,822,113...67,852,571 		JBrowse link
G Dmrtc1c1 DMRT-like family C1c1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr  X:67,896,973...67,904,182
Ensembl chr  X:67,896,974...67,904,182 		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 chr12:27,264,861...27,265,940
Ensembl chr12:21,626,450...21,629,408 		JBrowse link
G Dok6 docking protein 6 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:84,847,491...85,290,647
Ensembl chr18:82,572,762...83,015,951 		JBrowse link
G Dsel dermatan sulfate epimerase-like ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr13:186,413...192,592
Ensembl chr13:175,805...192,647 		JBrowse link
G Eif4h eukaryotic translation initiation factor 4H ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:27,719,527...27,736,350
Ensembl chr12:22,082,835...22,099,876 		JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:27,604,983...27,648,413
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Fbxo15 F-box protein 15 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:80,594,444...80,909,549
Ensembl chr18:78,319,534...78,390,765 		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 chr 1:194,175,703...194,280,914
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
G Fkbp6 FKBP prolyl isomerase family member 6 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:26,947,443...27,026,913
Ensembl chr12:21,319,568...21,390,350 		JBrowse link
G Fzd9 frizzled class receptor 9 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:27,063,640...27,065,954
Ensembl chr12:21,427,084...21,429,398 		JBrowse link
G Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 6:27,507,878...27,724,033
Ensembl chr 6:21,755,195...21,972,192 		JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:78,046,803...78,062,359
Ensembl chr18:75,772,023...75,787,577 		JBrowse link
G Gtf2i general transcription factor II I ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:28,037,344...28,112,677
Ensembl chr12:22,401,431...22,476,243 		JBrowse link
G Gtf2ird1 GTF2I repeat domain containing 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:22,254,113...22,361,052
Ensembl chr12:22,254,221...22,361,040 		JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr  X:71,425,240...71,632,865
Ensembl chr  X:67,385,289...67,592,923 		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 chr18:75,957,266...75,963,024
Ensembl chr18:73,682,286...73,688,045 		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 chr18:76,017,225...76,085,377
Ensembl chr18:73,743,074...73,808,723 		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 chr12:27,740,647...27,754,760
Ensembl chr12:22,104,219...22,118,288 		JBrowse link
G Limk1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:27,663,177...27,697,085
Ensembl chr12:22,026,672...22,060,606 		JBrowse link
G Marf1 meiosis regulator and mRNA stability factor 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr10:1,395,271...1,439,974
Ensembl chr10:888,076...932,753 		JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:78,130,652...78,241,174
Ensembl chr18:75,855,878...75,966,404 		JBrowse link
G Mettl27 methyltransferase like 27 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:27,394,067...27,403,220
Ensembl chr12:21,757,329...21,766,685 		JBrowse link
G Mlxipl MLX interacting protein-like ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:27,178,158...27,213,675
Ensembl chr12:21,543,576...21,577,112 		JBrowse link
G Mpv17l MPV17 mitochondrial inner membrane protein like ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr10:2,495,605...2,532,448
Ensembl chr10:1,988,136...2,007,649 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr10:1,250,554...1,345,681
Ensembl chr10:743,685...838,459 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr10:1,347,010...1,391,167
Ensembl chr10:839,788...883,869 		JBrowse link
G Neto1 neuropilin and tolloid like 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:81,905,455...82,028,730
Ensembl chr18:79,635,633...79,749,030 		JBrowse link
G Nfatc1 nuclear factor of activated T-cells 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:76,321,386...76,430,997
Ensembl chr18:74,046,904...74,156,028 		JBrowse link
G Nsun5 NOP2/Sun RNA methyltransferase 5 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,293,637...21,299,319
Ensembl chr12:21,293,645...21,299,272 		JBrowse link
G Pard6g par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:75,772,992...75,840,041
Ensembl chr18:73,498,021...73,565,029 		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:71,639,701...71,778,465
Ensembl chr  X:67,601,302...67,738,455 		JBrowse link
G Ptgr3 prostaglandin reductase 3 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:77,454,435...77,463,785
Ensembl chr18:77,454,435...77,463,785 		JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:75,914,247...75,923,893
Ensembl chr18:73,639,260...73,648,915 		JBrowse link
G Rfc2 replication factor C subunit 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:27,756,920...27,770,049
Ensembl chr12:22,120,010...22,133,557 		JBrowse link
G Rttn rotatin ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:84,495,813...84,673,079
Ensembl chr18:82,221,050...82,398,333 		JBrowse link
G Sall3 spalt-like transcription factor 3 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:76,680,997...76,700,905
Ensembl chr18:74,407,560...74,426,789 		JBrowse link
G Slc66a2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:75,976,000...76,014,651
Ensembl chr18:73,702,564...73,739,676 		JBrowse link
G Socs6 suppressor of cytokine signaling 6 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:84,386,587...84,413,927
Ensembl chr18:82,111,827...82,139,219 		JBrowse link
G Stx1a syntaxin 1A ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:27,278,517...27,306,547
Ensembl chr12:21,641,969...21,669,930 		JBrowse link
G Tbl2 transducin (beta)-like 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:27,154,150...27,168,446
Ensembl chr12:21,520,682...21,531,896 		JBrowse link
G Timm21 translocase of inner mitochondrial membrane 21 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:80,589,775...80,594,237
Ensembl chr18:78,314,909...78,319,454 		JBrowse link
G Tmem270 transmembrane protein 270 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:27,430,092...27,435,243
Ensembl chr12:21,794,130...21,798,731 		JBrowse link
G Tmx3 thioredoxin-related transmembrane protein 3 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:86,021,137...86,054,025
Ensembl chr18:83,731,868...83,762,263 		JBrowse link
G Trim50 tripartite motif-containing 50 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,300,784...21,317,668
Ensembl chr12:21,300,785...21,317,668 		JBrowse link
G Tshz1 teashirt zinc finger homeobox 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:79,651,256...79,727,662
Ensembl chr18:77,377,394...77,453,509 		JBrowse link
G Txnl4a thioredoxin-like 4A ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:75,934,085...75,949,873
Ensembl chr18:73,659,107...73,674,893 		JBrowse link
G Vps37d VPS37D subunit of ESCRT-I ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:27,245,755...27,251,214
Ensembl chr12:21,609,182...21,614,659 		JBrowse link
G Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:78,251,248...78,351,037
Ensembl chr18:75,978,231...76,073,737 		JBrowse link
G Zfp407 zinc finger protein 407 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:79,846,012...80,245,177
Ensembl chr18:77,571,204...77,974,129 		JBrowse link
G Zfp516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:78,561,069...78,661,263
Ensembl chr18:76,302,096...76,385,269 		JBrowse link
Waardenburg Syndrome Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edn3 endothelin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8630502 PMID:8630503 PMID:17516928 NCBI chr 3:183,980,458...184,004,958
Ensembl chr 3:163,562,520...163,585,093 		JBrowse link
G Ednrb endothelin receptor type B IAGP
ISO		 ClinVar Annotator: match by term: Hirschsprung disease with pigmentary anomaly ClinVar
RGD		 PMID:14633923 PMID:16944573 PMID:17554617 PMID:18162831 PMID:20127975 More... RGD:6480217 NCBI chr15:87,055,490...87,086,765
Ensembl chr15:80,643,043...80,672,115 		JBrowse link
G Ednrbsl endothelin receptor type B, spotting lethal IAGP RGD PMID:21915282 RGD:6480217
G Sox10 SRY-box transcription factor 10 ISO DNA:missense mutations,insertion,deletion:cds: RGD PMID:9462749 RGD:12832744 NCBI chr 7:112,605,721...112,615,097
Ensembl chr 7:110,725,274...110,735,544 		JBrowse link
Waardenburg syndrome type 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednrb endothelin receptor type B susceptibility ISO
ISS		 ClinVar Annotator: match by term: Waardenburg syndrome type 4A
OMIM:277580		 ClinVar
MouseDO
OMIM		 PMID:7778600 PMID:8001158 PMID:8001159 PMID:8634719 PMID:8852659 More... NCBI chr15:87,055,490...87,086,765
Ensembl chr15:80,643,043...80,672,115 		JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4A ClinVar PMID:25741868 NCBI chr 7:112,592,977...112,604,681
Ensembl chr 7:110,712,572...110,724,234 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4A ClinVar PMID:25741868 NCBI chr 7:112,605,721...112,615,097
Ensembl chr 7:110,725,274...110,735,544 		JBrowse link
Waardenburg syndrome type 4B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edn3 endothelin 3 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:613265
ClinVar Annotator: match by term: Waardenburg syndrome type 4B		 CTD
MouseDO
ClinVar
OMIM		 PMID:8630503 PMID:8696331 PMID:9359047 PMID:9587491 PMID:11303518 More... NCBI chr 3:183,980,458...184,004,958
Ensembl chr 3:163,562,520...163,585,093 		JBrowse link
Waardenburg syndrome type 4C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4C ClinVar PMID:9462749 PMID:10077527 PMID:15004559 PMID:18348274 PMID:21898658 More... NCBI chr 7:112,592,977...112,604,681
Ensembl chr 7:110,712,572...110,724,234 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO
ISS		 ClinVar Annotator: match by term: Waardenburg syndrome type 4C
CTD Direct Evidence: marker/mechanism
OMIM:613266		 OMIM
ClinVar
CTD
MouseDO		 PMID:9462749 PMID:10077527 PMID:15004559 PMID:18348274 PMID:21898658 More... NCBI chr 7:112,605,721...112,615,097
Ensembl chr 7:110,725,274...110,735,544 		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 6:78,124,872...78,247,672
Ensembl chr 6:72,389,703...72,512,459 		JBrowse link
G Fancb FA complementation group B ISO CTD Direct Evidence: marker/mechanism
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		 CTD
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565 NCBI chr  X:33,035,387...33,051,993
Ensembl chr  X:29,403,771...29,420,192 		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 chr14:104,449,403...104,515,297
Ensembl chr14:100,248,875...100,314,255 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly		 CTD
ClinVar		 PMID:9259288 PMID:10866302 PMID:11071384 PMID:11748304 PMID:15492994 More... NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:24429398 PMID:25741868 PMID:28492532 NCBI chr19:34,179,316...34,196,278
Ensembl chr19:18,007,503...18,022,705 		JBrowse link
G Zic3 Zic family member 3 ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 More... NCBI chr  X:141,159,623...141,165,587
Ensembl chr  X:136,124,026...136,134,746 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      gastrointestinal system disease 7197
        Digestive System Abnormalities 531
          Absent Duct of Santorini 0
          Acrorenal Mandibular Syndrome 0
          Acrorenal Syndrome Recessive 0
          Anorectal Malformations + 127
          Barrett's esophagus + 39
          Craniosynostosis, Anal Anomalies, and Porokeratosis 1
          Currarino syndrome 58
          Hirschsprung's disease + 194
          Meckel's diverticulum 0
          Pancreaticobiliary Maljunction 0
          Volvulus Of Midgut 73
          biliary atresia + 17
          choledochal cyst + 8
          diaphragmatic eventration + 1
          esophageal atresia + 50
          intestinal atresia + 12
Path 2
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14674
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        Congenital Abnormalities 7894
          Digestive System Abnormalities 531
            Absent Duct of Santorini 0
            Acrorenal Mandibular Syndrome 0
            Acrorenal Syndrome Recessive 0
            Anorectal Malformations + 127
            Barrett's esophagus + 39
            Craniosynostosis, Anal Anomalies, and Porokeratosis 1
            Currarino syndrome 58
            Hirschsprung's disease + 194
            Meckel's diverticulum 0
            Pancreaticobiliary Maljunction 0
            Volvulus Of Midgut 73
            biliary atresia + 17
            choledochal cyst + 8
            diaphragmatic eventration + 1
            esophageal atresia + 50
            intestinal atresia + 12
paths to the root