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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 chr15:95,541,186...95,774,898
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 chr16:77,866,489...77,889,745
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 chr16:80,753,300...80,777,350
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 9:46,268,758...46,305,038
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 chr16:77,945,468...77,987,163
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 9:46,198,234...46,236,325 JBrowse link
G Cldn10 claudin 10 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:95,862,785...95,954,526
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 chr15:99,283,644...99,505,697
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 chr16:78,183,533...78,294,412
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 chr16:78,047,591...78,183,360
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 chr15:95,062,006...95,100,863
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 chr15:96,025,729...96,065,114
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 chr15:98,611,518...98,883,306
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 chr15:95,956,329...96,009,994
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 chr16:80,783,389...80,827,420
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 9:46,309,477...46,354,478
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 chr15:98,124,304...98,363,299
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 chr15:101,045,038...101,679,888
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 chr15:99,969,246...99,998,343
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 chr15:94,030,218...95,027,883
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 chr15:98,997,427...99,001,177
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 chr15:99,037,764...99,050,550
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 chr15:96,281,502...97,000,804
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 chr16:77,937,276...77,945,320
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 chr15:97,990,755...98,041,074
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 chr16:78,488,249...78,512,482
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 chr15:100,780,184...101,041,734
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 chr16:79,518,393...79,526,956
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 chr15:97,385,238...97,542,924
Ensembl chr15:97,385,244...97,542,937
JBrowse link
G Mettl21c methyltransferase like 21C ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 9:46,130,451...46,145,128
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 chr16:78,884,405...79,364,445
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 chr15:100,398,615...100,712,283
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 chr16:79,713,577...80,236,424 JBrowse link
G Naxd NAD(P)HX dehydratase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:77,986,148...78,004,200
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 chr15:97,145,947...97,146,960
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 chr15:99,627,955...99,969,555
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 9:46,256,388...46,268,714
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 chr16:78,019,337...78,043,529
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 chr15:97,596,848...97,597,338
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 chr16:84,386,528...84,409,475
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 chr15:98,537,641...98,582,544
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 chr15:95,292,272...95,295,316 JBrowse link
G Stk24 serine/threonine kinase 24 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:98,363,707...98,458,940
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 9:46,242,748...46,252,273
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 chr15:95,174,607...95,195,577
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 chr15:99,201,556...99,254,054
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 chr15:100,000,157...100,056,573
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 chr16:79,462,406...79,492,888
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 9:46,046,712...46,128,157
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 chr15:98,960,139...99,107,795
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 chr15:99,576,697...99,581,522
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 chr15:99,558,229...99,567,035
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:rectum:
mRNA, protein:decreased expression:rectum
mRNA:decreased expression:hindgut
RGD PMID:22027561 PMID:20146882 PMID:17161201 RGD:9068408, RGD:12798571, RGD:1599527 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G Ephb2 Eph receptor B2 IEP mRNA,protein:decreased expression:embryonic cloaca, urorectal septum RGD PMID:19302865 RGD:127285623 NCBI chr 5:148,889,574...149,077,027
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 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Gli2 GLI family zinc finger 2 ISO mRNA, protein:decreased expression:rectum RGD PMID:20146882 PMID:11485934 RGD:12798571, RGD:12802352 NCBI chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574
JBrowse link
G Gli3 GLI family zinc finger 3 IEP mRNA:decreased expression:rectum RGD PMID:27079746 RGD:12743602 NCBI chr17:49,438,567...49,709,712
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 4:81,358,956...81,361,091
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 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO protein:decreased expression:somite RGD PMID:21480163 RGD:11556204 NCBI chr 1:214,837,847...215,267,626
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 4:6,954,017...6,963,170
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: Barrett esophagus
ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma
OMIM
ClinVar
PMID:21791690 PMID:25741868 PMID:28492532 NCBI chr20:27,941,053...28,031,272
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 chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO
IEP
protein:increased expression:esophagus: RGD PMID:17570215 PMID:17570215 RGD:8699511, RGD:8699511 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G Cdh13 cadherin 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18729198 NCBI chr19:46,349,562...47,387,462
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 chr20:7,149,177...7,159,727
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 chr12:7,726,798...7,733,142
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 OMIM
ClinVar
PMID:21791690 NCBI chr 7:70,122,474...70,132,756
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 1:235,471,368...235,475,204
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 1:231,798,963...231,832,591
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 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
JBrowse link
G Gast gastrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr10:85,264,832...85,269,393
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 chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr 4:18,673,736...18,745,582
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 chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
JBrowse link
G LOC103694540 zinc finger Y-chromosomal protein 2 ISO DNA:hypermethylation:esophageal squamous epithelium RGD PMID:26545406 RGD:11552890
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127259 NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303
JBrowse link
G Mir223 microRNA 223 disease_progression ISO RGD PMID:23757351 RGD:21408587 NCBI chr  X:61,141,887...61,141,996
Ensembl chr  X:61,141,887...61,141,996
JBrowse link
G Mki67 marker of proliferation Ki-67 severity ISO RGD PMID:22147251 RGD:6483521 NCBI chr 1:190,496,319...190,522,983
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 8:4,658,588...4,679,099
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 8:4,581,785...4,591,687
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 OMIM
ClinVar
PMID:21791690 NCBI chr16:52,717,775...52,802,890
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 1:196,796,257...196,831,740 JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21977915 NCBI chr11:62,460,213...62,496,665
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 4:148,423,102...148,548,471
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 3:14,177,892...14,189,236 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression IMP
ISO
mRNA: increased expression: Esophagus
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:11059772 PMID:15387324 PMID:17244951 PMID:17675820 PMID:12105834 More... RGD:1642603, RGD:13207438, RGD:7349348 NCBI chr13:62,164,080...62,169,770
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 1:202,925,001...202,935,484
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 3:38,539,581...38,540,998
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 5:145,576,341...145,629,630
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 4:58,344,101...58,372,828
Ensembl chr 4:58,343,529...58,373,829
JBrowse link
G Sst somatostatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17999418 NCBI chr11:76,956,896...76,958,173
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 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
biliary atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21356120 RGD:5686894 NCBI chr11:77,721,912...77,735,644
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 chr18:28,335,522...28,337,383
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 6:128,410,216...128,417,518
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 chr20:13,074,695...13,104,095
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 chr13:29,946,809...30,163,901
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 1:86,170,926...86,172,865
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 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Il18 interleukin 18 susceptibility ISO DNA:SNPs, haplotype:promoter:rs187238,rs1946518(human)
protein:increased expression:serum:
RGD PMID:30059753 PMID:10726686 RGD:14695528, RGD:14695529 NCBI chr 8:50,904,630...50,932,887
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 chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:liver RGD PMID:28355202 PMID:27817193 RGD:24922206, RGD:25671379 NCBI chr11:23,774,654...23,774,718
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 1:230,631,303...230,696,754
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 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
JBrowse link
G Sox17 SRY-box transcription factor 17 ISS MouseDO NCBI chr 5:15,016,660...15,022,228
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 3:106,231,082...106,244,121
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 1:84,558,159...84,580,616
Ensembl chr 1:84,558,166...84,580,616
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:15845635 RGD:1581370 NCBI chr14:5,308,885...5,315,120
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 1:81,196,532...81,212,848
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 chr18:73,571,870...73,597,088
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 chr18:74,176,863...74,368,993
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 chr18:73,854,277...73,916,232
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 chr18:75,772,021...75,787,577
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 chr18:73,682,286...73,690,061
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 chr18:73,742,224...73,810,420
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 chr18:75,855,878...75,966,404
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 chr18:74,046,421...74,156,041
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 chr18:73,498,119...73,565,048
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 chr18:73,639,260...73,648,942
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 chr18:74,406,058...74,425,754
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 chr18:73,702,472...73,739,678
Ensembl chr18:73,702,564...73,739,676
JBrowse link
G Txnl4a thioredoxin-like 4A ISO ClinVar Annotator: match by term: Burn-Mckeown syndrome
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
OMIM
PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 NCBI 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 chr18:75,976,478...76,072,428
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 chr18:76,286,453...76,386,526
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 chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
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 9:22,547,396...23,037,443 JBrowse link
G Ttc26 tetratricopeptide repeat domain 26 ISO ClinVar Annotator: match by term: Caroli disease ClinVar NCBI chr 4:67,090,622...67,154,707
Ensembl chr 4:67,090,660...67,147,903
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 chr14:43,042,474...43,106,337
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: Metaphyseal chondrodysplasia, McKusick type ClinVar PMID:8034306 PMID:9156319 PMID:10026268 PMID:11006544 PMID:11207361 More... NCBI chr 5:57,749,502...57,752,920
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 4:84,482,512...84,494,690
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 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO CTD Direct Evidence: marker/mechanism
DNA:deletion:exon:
CTD
RGD
PMID:18988797 PMID:15830394 RGD:14700991 NCBI chr 9:22,547,396...23,037,443 JBrowse link
G Sct secretin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 1:196,382,941...196,383,635
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 4:10,736,419...10,754,407
Ensembl chr 4:10,736,425...10,752,965
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 chr11:80,473,809...80,567,257
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 chr11:80,340,476...80,352,211
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 2:115,492,374...115,508,401
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 chr11:80,300,487...80,306,014
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 chr11:80,355,307...80,364,218
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 chr11:81,141,102...81,153,206
Ensembl chr11:81,140,599...81,156,166
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 chr11:80,289,702...80,290,829 JBrowse link
G Ccdc39 coiled-coil domain containing 39 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:116,665,261...116,703,364
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 chr11:80,171,994...80,181,166
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 chr11:80,197,741...80,211,657
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 2:118,721,275...118,772,606
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 2:116,923,272...116,945,312
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 chr11:80,365,446...80,382,641
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 chr11:80,259,130...80,299,685
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...80,299,686
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 chr11:79,241,927...79,275,173
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 chr11:80,394,433...80,404,468
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 chr11:80,221,919...80,241,958
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 chr11:79,840,668...79,859,467
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 chr11:80,211,577...80,221,527 JBrowse link
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:116,884,167...116,937,586
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 2:115,360,746...115,400,680
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 chr11:78,874,402...78,974,392
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 2:114,670,027...114,975,406
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 2:115,255,788...115,270,142
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 chr11:80,843,621...80,877,693
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 chr11:80,970,917...81,010,593
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 chr11:81,153,491...81,224,643
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 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 chr11:79,094,087...79,235,181
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 chr11:80,734,148...80,740,377
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 2:118,799,147...118,851,181
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 2:115,313,380...115,359,651
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 chr11:80,306,902...80,306,986
Ensembl chr11:80,306,902...80,306,986
JBrowse link
G Mnx1 motor neuron and pancreas homeobox 1 ISO ClinVar Annotator: match by term: Currarino triad
ClinVar Annotator: match by OMIM:176450
OMIM
ClinVar
PMID:7550324 PMID:9843207 PMID:10631160 PMID:10749657 PMID:11528505 More... NCBI chr 4:5,866,506...5,871,465
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 2:115,519,248...115,533,589
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 chr11:80,594,059...80,620,506
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 1:214,837,847...215,267,626
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 2:115,694,868...115,908,338
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 2:115,175,275...115,249,034
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 chr11:80,192,017...80,197,468
Ensembl chr11:80,192,032...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 chr11:80,248,364...80,258,991
Ensembl chr11:80,248,364...80,259,043
JBrowse link
G RGD1562339 RGD1562339 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:79,345,792...79,396,140 JBrowse link
G Senp2 SUMO specific peptidase 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:78,981,429...79,018,274
Ensembl chr11:78,981,432...79,018,238
JBrowse link
G Sox2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:117,536,929...117,539,338
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 2:116,653,543...116,665,072
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 2:115,576,912...115,689,153
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 chr11:79,402,236...79,634,234
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 chr11:80,306,067...80,323,220
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 chr11:80,743,134...80,829,253
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 2:115,292,431...115,305,798
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 2:115,106,050...115,136,863
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:26619011 PMID:27631024 PMID:28492532 PMID:31568861 NCBI chr 2:115,175,275...115,249,034
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 8:71,877,850...71,957,107
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:1380673 PMID:1381146 PMID:1384321 More... NCBI chr 4:46,561,269...46,728,759
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 1:184,745,418...184,850,655
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 4:169,568,505...169,649,092
Ensembl chr 4:169,568,529...169,649,092
JBrowse link
G LOC500354 similar to C030030A07Rik protein ISO ClinVar Annotator: match by term: Duodenal atresia ClinVar NCBI chr 4:169,716,821...169,731,532
Ensembl chr 4:169,716,030...169,734,237
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 3:77,700,936...77,890,221
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 1:80,572,790...80,601,936
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 chr10:85,935,802...85,989,901
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 8:68,467,017...68,470,033
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 4:151,764,138...152,379,454
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 chr10:89,400,931...89,449,823
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 chr19:45,304,597...45,510,653
Ensembl chr19:45,304,031...45,508,709
JBrowse link
G Drosha drosha ribonuclease III ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:61,864,886...61,976,688
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 chr11:35,921,924...36,507,100
Ensembl chr11:35,926,896...36,507,415
JBrowse link
G Dst dystonin ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 9:36,135,657...36,529,617
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 chr10:87,804,893...87,852,181
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 chr10:26,376,805...26,463,680
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 2:195,649,845...195,655,402
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 7:134,135,279...134,173,133
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 chr12:1,193,193...1,330,976
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 chr19:56,705,123...56,753,199
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 4:159,542,941...159,576,189
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:104,354,692...104,456,757
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 chr10:87,098,330...87,102,465
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 3:9,277,955...9,323,531
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 2:40,014,933...41,529,190
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 2:41,969,176...41,974,945
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:12,566,447...12,628,171
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 1:202,938,532...202,950,672
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 chr10:85,785,537...85,809,869
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 chr18:62,941,739...63,288,126
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 chr10:20,480,662...21,706,415
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 8:86,222,294...86,229,045
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 1:29,637,213...29,659,509
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:14,362,479...14,373,727
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:8673090 PMID:9150172 PMID:9667259 PMID:9792861 PMID:11179017 More... NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
JBrowse link
G Brip1 BRCA1 interacting helicase 1 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:16116421 PMID:16116423 PMID:16116424 PMID:16153896 PMID:17033622 More... NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324
JBrowse link
G Gli2 GLI family zinc finger 2 IEP RGD PMID:12947339 RGD:12801415 NCBI chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574
JBrowse link
G Nog noggin ISO
ISS
OMIM:189960 MouseDO
RGD
PMID:17260385 RGD:12801454 NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
JBrowse link
G Shh sonic hedgehog signaling molecule IEP RGD PMID:25003913 RGD:12801416 NCBI chr 4:6,954,017...6,963,170
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 DNA:missense mutation:exon:p.R28L (c.83G>T) (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19200522 RGD:11576290 NCBI chr  X:8,899,500...9,243,014
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:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Med12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Keller syndrome
DNA:missense mutation:cds:2881C>T(p.R961W)(human)
DNA:missense mutation:cds:p.G958E(human)
CTD
ClinVar
RGD
PMID:10982179 PMID:17334363 PMID:18414213 PMID:20301719 PMID:23757202 More... RGD:12910952, RGD:12910948 NCBI chr  X:66,404,622...66,427,772
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 Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: FG syndrome 1 OMIM
ClinVar
PMID:6711603 PMID:8279489 PMID:9536098 PMID:10405444 PMID:10982179 More... NCBI chr  X:66,404,622...66,427,772
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:66,427,926...66,457,378
Ensembl chr  X:66,429,458...66,451,876
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 ClinVar
OMIM
PMID:16299064 PMID:17632775 PMID:25167861 PMID:25741868 PMID:28133863 More... NCBI chr  X:152,007,758...152,034,266
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: Mental retardation, CASK-related, X-linked
ClinVar Annotator: match by term: FG syndrome 4
ClinVar Annotator: match by term: CASK-Related Disorder
ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19165920 More... NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694
JBrowse link
G Gpr34 G protein-coupled receptor 34 ISO ClinVar Annotator: match by term: Mental retardation, CASK-related, X-linked ClinVar PMID:21735175 PMID:28492532 NCBI chr  X:9,104,829...9,113,796
Ensembl chr  X:9,104,565...9,148,601
JBrowse link
G Gpr82 G protein-coupled receptor 82 ISO ClinVar Annotator: match by term: Mental retardation, CASK-related, X-linked ClinVar PMID:21735175 PMID:28492532 NCBI chr  X:9,079,653...9,081,259
Ensembl chr  X:9,080,254...9,081,240
JBrowse link
Goldberg-Shprintzen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,500,781...166,515,477
Ensembl chr 5:166,500,781...166,515,481
JBrowse link
G Actrt2 actin-related protein T2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629
JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003
JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,398,359...166,400,616
Ensembl chr 5:166,397,748...166,400,953
JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482
JBrowse link
G Aurkaip1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,435,177...166,436,888
Ensembl chr 5:166,417,508...166,436,882
JBrowse link
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338
JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,551,628...166,556,003
Ensembl chr 5:166,551,628...166,556,003
JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,416,940...166,428,997 JBrowse link
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876
JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071
JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,474,947...166,479,103
Ensembl chr 5:166,474,966...166,479,017
JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
JBrowse link
G Faap20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,808,370...165,815,291
Ensembl chr 5:165,808,657...165,815,333
JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,299,587...166,311,477 JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,522,138...165,523,684
Ensembl chr 5:165,522,234...165,523,001
JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651
JBrowse link
G Kifbp kinesin family binding protein ISO ClinVar Annotator: match by OMIM:609460
ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:15883926 PMID:18414213 PMID:23427148 PMID:24072599 PMID:24901346 More... NCBI chr20:30,512,899...30,532,504
Ensembl chr20:30,512,901...30,532,476
JBrowse link
G Mib2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,243,776...166,259,944
Ensembl chr 5:166,243,776...166,259,650
JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,648,494...166,648,582 JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543
JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716
JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,239,643...166,242,734
Ensembl chr 5:166,239,644...166,242,433
JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,646,817...165,704,892
Ensembl chr 5:165,646,991...165,704,892
JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,408,962...166,413,492
Ensembl chr 5:166,408,962...166,413,492
JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,448,919...166,453,645
Ensembl chr 5:166,449,154...166,453,636
JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,145,708...166,176,328
Ensembl chr 5:166,145,481...166,176,322
JBrowse link
G Nek9 NIMA-related kinase 9 ISO ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome ClinVar PMID:25741868 NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538
JBrowse link
G Pank4 pantothenate kinase 4 (inactive) ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135
JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356
JBrowse link
G Prkcz protein kinase C, zeta ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,462,610...165,465,213 JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,496,755...166,500,611
Ensembl chr 5:166,496,755...166,500,611
JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750
JBrowse link
G RGD1311517 similar to RIKEN cDNA 9430015G10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,701,485...166,719,939
Ensembl chr 5:166,701,676...166,719,955
JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,720,408...166,726,236 JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521
JBrowse link
G Ski SKI proto-oncogene ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:9536098 PMID:12419246 PMID:12857746 PMID:17576681 PMID:19112531 More... NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
JBrowse link
G Slc35e2b solute carrier family 35, member E2B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021
JBrowse link
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,312,267...166,343,432
Ensembl chr 5:166,313,650...166,343,429
JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,469,589...166,472,742
Ensembl chr 5:166,469,589...166,472,742
JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,344,000...166,350,210 JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,048,667...166,050,423
Ensembl chr 5:166,046,565...166,050,433
JBrowse link
G Tmem88b transmembrane protein 88B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,391,080...166,393,904
Ensembl chr 5:166,391,080...166,393,904
JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703
JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599
JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,411,063...165,428,864
Ensembl chr 5:165,411,058...165,428,857
JBrowse link
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,630,147...166,644,114
Ensembl chr 5:166,630,152...166,653,707
JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,533,374...166,547,811
Ensembl chr 5:166,533,418...166,547,804
JBrowse link
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637
JBrowse link
Hirschsprung Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahnak AHNAK nucleoprotein ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:28492532 NCBI chr 1:205,882,223...205,970,934
Ensembl chr 1:205,882,273...205,970,926
JBrowse link
G Ccr9 C-C motif chemokine receptor 9 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 8:123,396,157...123,410,199
Ensembl chr 8:123,395,813...123,413,969
JBrowse link
G Cluh clustered mitochondria homolog ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr10:59,509,580...59,531,345
Ensembl chr10:59,509,726...59,531,345
JBrowse link
G Cntn5 contactin 5 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 8:6,735,715...7,967,727
Ensembl chr 8:6,738,239...7,967,957
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
JBrowse link
G Dennd3 DENN domain containing 3 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 7:105,415,870...105,473,583
Ensembl chr 7:105,415,677...105,473,592
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More... NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:28492532 NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183
JBrowse link
G Fat3 FAT atypical cadherin 3 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 8:12,691,470...13,274,336
Ensembl chr 8:12,694,019...13,273,135
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 2:56,893,992...56,919,935
Ensembl chr 2:56,895,010...56,917,209
JBrowse link
G Gfra1 GDNF family receptor alpha 1 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 1:257,315,682...257,552,004 JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:9302279 PMID:19829694 PMID:25741868 PMID:28492532 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
JBrowse link
G Ihh Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
JBrowse link
G Irak3 interleukin-1 receptor-associated kinase 3 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:28492532 NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
JBrowse link
G Kdr kinase insert domain receptor ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:24728327 PMID:28492532 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
JBrowse link
G Lrba LPS responsive beige-like anchor protein ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:28492532 NCBI chr 2:171,623,668...172,202,576
Ensembl chr 2:171,621,507...172,202,724
JBrowse link
G Lztfl1 leucine zipper transcription factor-like 1 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 8:123,344,085...123,360,245
Ensembl chr 8:123,344,925...123,360,192
JBrowse link
G Nav2 neuron navigator 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 1:98,957,629...99,322,339
Ensembl chr 1:98,663,759...99,322,337
JBrowse link
G Ncln nicalin ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 7:8,211,978...8,221,938
Ensembl chr 7:8,211,996...8,221,934
JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:24728327 PMID:28492532 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
JBrowse link
G Nrp2 neuropilin 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 9:64,122,815...64,238,007
Ensembl chr 9:64,123,132...64,237,958
JBrowse link
G Ntf3 neurotrophin 3 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596
JBrowse link
G Nup98 nucleoporin 98 and 96 precursor ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 1:156,494,423...156,591,415
Ensembl chr 1:156,494,423...156,591,415
JBrowse link
G Olr1376 olfactory receptor 1376 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr10:12,333,860...12,334,801
Ensembl chr10:12,333,860...12,334,801
JBrowse link
G Pcdha1 protocadherin alpha 1 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar
G Pcdha10 protocadherin alpha 10 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar
G Pcdha11 protocadherin alpha 11 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar
G Pcdha12 protocadherin alpha 12 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar
G Pcdha13 protocadherin alpha 13 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar
G Pcdha2 protocadherin alpha 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar
G Pcdha3 protocadherin alpha 3 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar
G Pcdha4 protocadherin alpha 4 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr18:28,581,040...28,846,214 JBrowse link
G Pcdha5 protocadherin alpha 5 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar
G Pcdha6 protocadherin alpha 6 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar
G Pcdha7 protocadherin alpha 7 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar
G Pcdha8 protocadherin alpha 8 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar
G Pcdha9 protocadherin alpha 9 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar
G Pcdhac1 protocadherin alpha subfamily C, 1 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar
G Pcdhac2 protocadherin alpha subfamily C, 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar
G Pgrmc2 progesterone receptor membrane component 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 2:124,068,257...124,084,155
Ensembl chr 2:124,068,260...124,084,155
JBrowse link
G Plau plasminogen activator, urokinase ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:28492532 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:24357527 NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:16231297 PMID:23334667 PMID:24728327 PMID:26893459 PMID:28492532 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7581377 PMID:7633441 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
G Sema3d semaphorin 3D ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 4:22,316,769...22,505,930
Ensembl chr 4:22,316,779...22,505,930
JBrowse link
G Serpinf1 serpin family F member 1 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:28492532 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:24357527 NCBI chr 7:110,725,274...110,735,544
Ensembl chr 7:110,725,274...110,735,544
JBrowse link
G Tbata thymus, brain and testes associated ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr20:29,118,055...29,135,124
Ensembl chr20:29,118,070...29,135,109
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:25741868 PMID:26017485 PMID:28492532 NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
JBrowse link
G Thbs4 thrombospondin 4 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 2:23,983,158...24,025,289
Ensembl chr 2:23,983,158...24,026,313
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:10205261 PMID:15798777 PMID:17304050 PMID:22703879 PMID:24728327 More... NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
JBrowse link
G Zhx2 zinc fingers and homeoboxes 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 7:89,226,358...89,374,266
Ensembl chr 7:89,226,463...89,374,378
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 null ClinVar PMID:11953745 PMID:12438263 PMID:15024693 PMID:15338462 NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978
JBrowse link
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ece1 endothelin converting enzyme 1 ISO ClinVar Annotator: match by term: Hirschsprung disease, cardiac defects, and autonomic dysfunction
ClinVar Annotator: match by OMIM:613870
OMIM
ClinVar
PMID:8530372 PMID:9915973 PMID:25741868 PMID:34298581 NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
JBrowse link
Hirschsprung's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
JBrowse link
G Ache acetylcholinesterase ISO RGD PMID:21991983 RGD:5509847 NCBI chr12:19,407,359...19,413,713
Ensembl chr12:19,407,360...19,413,651
JBrowse link
G Aebp2 AE binding protein 2 ISS OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 MouseDO NCBI chr 4:173,527,881...173,593,100
Ensembl chr 4:173,528,344...173,593,100
JBrowse link
G Arhgap22 Rho GTPase activating protein 22 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:8,473,806...8,631,552
Ensembl chr16:8,476,306...8,631,548
JBrowse link
G Asah2 N-acylsphingosine amidohydrolase 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 1:229,865,662...229,973,253
Ensembl chr 1:229,865,662...229,939,162
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889
JBrowse link
G Axin2 axin 2 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:21626677 PMID:25260786 PMID:25637381 PMID:27696107 PMID:28492532 More... NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
JBrowse link
G Bmi1 BMI1 proto-oncogene, polycomb ring finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:29429387 NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690
JBrowse link
G Cavin2 caveolae associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25792468 NCBI chr 9:50,302,079...50,314,096
Ensembl chr 9:50,301,206...50,314,147
JBrowse link
G Cd14 CD14 molecule IEP protein:increased expression:intestine: RGD PMID:15117676 RGD:7193054 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
JBrowse link
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
JBrowse link
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093
JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr18:125,308...132,163
Ensembl chr18:125,227...132,160
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
JBrowse link
G Crisp2 cysteine-rich secretory protein 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 9:20,107,649...20,131,967
Ensembl chr 9:20,107,701...20,131,959
JBrowse link
G Ctxnd1 cortexin domain containing 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 1:138,495,689...138,547,105 JBrowse link
G Dennd3 DENN domain containing 3 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 7:105,415,870...105,473,583
Ensembl chr 7:105,415,677...105,473,592
JBrowse link
G Depdc1 DEP domain containing 1 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 2:248,684,508...248,717,951
Ensembl chr 2:248,684,523...248,717,951
JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
JBrowse link
G Dppa5 developmental pluripotency associated 5 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 8:79,215,341...79,217,282
Ensembl chr 8:79,215,362...79,216,570
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Hirschsprung Disease ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More... NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
JBrowse link
G Drgx dorsal root ganglia homeobox ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:7,854,849...7,884,404
Ensembl chr16:7,854,849...7,900,600
JBrowse link
G Dscam DS cell adhesion molecule ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr11:35,921,924...36,507,100
Ensembl chr11:35,926,896...36,507,415
JBrowse link
G Ece1 endothelin converting enzyme 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hirschsprung disease
CTD
ClinVar
PMID:9915973 NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
JBrowse link
G Edn3 endothelin 3 susceptibility ISO DNA:point mutation:exon:A17T, A224T
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: Hirschsprung Disease, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:613712
ClinVar
OMIM
CTD
RGD
PMID:8630502 PMID:8630503 PMID:8696331 PMID:8896568 PMID:9359047 More... RGD:1601003 NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093
JBrowse link
G Ednrb endothelin receptor type B susceptibility
treatment
ISO
IAGP
IMP
DNA:point mutation:exon:W276C
ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar Annotator: match by term: Hirschsprung Disease, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:600155
ClinVar
OMIM
CTD
RGD
PMID:8001158 PMID:8852658 PMID:8852659 PMID:8852660 PMID:8896568 More... RGD:1601008, RGD:6480215, RGD:6480217, RGD:628516, RGD:1342447 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
JBrowse link
G Ednrbsl endothelin receptor type B, spotting lethal IAGP RGD PMID:21915282 PMID:22132166 RGD:6480217, RGD:6480215
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO
ISS
OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 MouseDO
RGD
PMID:12526770 RGD:734940 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
JBrowse link
G Etfdh electron transfer flavoprotein dehydrogenase ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 2:164,740,547...164,762,754
Ensembl chr 2:164,729,749...164,762,745
JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
JBrowse link
G Fam170b family with sequence similarity 170, member B ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:8,101,899...8,104,724
Ensembl chr16:8,101,914...8,104,705
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Fhit fragile histidine triad diadenosine triphosphatase ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr15:13,935,029...15,442,620
Ensembl chr15:13,934,995...15,442,340
JBrowse link
G Flg filaggrin ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 2:178,888,688...178,912,731 JBrowse link
G Fmn2 formin 2 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr13:86,454,256...86,771,437 JBrowse link
G Fn1 fibronectin 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
JBrowse link
G Frmpd2 FERM and PDZ domain containing 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:8,757,642...8,877,307 JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345
JBrowse link
G Gdnf glial cell derived neurotrophic factor susceptibility ISO ClinVar Annotator: match by OMIM:613711
ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: Hirschsprung Disease, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:8896568 PMID:8896569 PMID:8968758 PMID:9215674 PMID:9359036 More... NCBI chr 2:56,893,992...56,919,935
Ensembl chr 2:56,895,010...56,917,209
JBrowse link
G Gfra1 GDNF family receptor alpha 1 ISO
ISS
ClinVar Annotator: match by term: Hirschsprung disease
OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712
ClinVar
MouseDO
RGD
PMID:17507417 RGD:6218967 NCBI chr 1:257,315,682...257,552,004 JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:missense mutation:cds:p.K173N (human) (rs1065411) RGD PMID:20661602 RGD:12792222 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:missense mutation:cds:p.V155I (human) (rs2266637) RGD PMID:20661602 RGD:12792222 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Hdac8 histone deacetylase 8 ISO protein:decreased expression:colon (human) RGD PMID:16771768 RGD:13208819 NCBI chr  X:67,385,288...67,593,014
Ensembl chr  X:67,385,289...67,592,923
JBrowse link
G Hic2 HIC ZBTB transcriptional repressor 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr11:83,737,075...83,789,554
Ensembl chr11:83,738,874...83,767,484
JBrowse link
G Ihh Indian hedgehog signaling molecule ISS OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 MouseDO NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250
JBrowse link
G Iqcf5 IQ motif containing F5 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 8:107,151,477...107,152,862
Ensembl chr 8:107,151,462...107,152,869
JBrowse link
G Itgb1 integrin subunit beta 1 ISS OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 MouseDO NCBI chr19:56,705,123...56,753,199
Ensembl chr19:56,705,171...56,753,195
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO protein:decreased expression:aganglionic colon:
protein:decreased expression:intestine smooth muscle"
RGD PMID:8831584 PMID:9247236 RGD:12910727, RGD:12910747 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
JBrowse link
G Klrg1 killer cell lectin like receptor G1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 4:155,455,465...155,467,301
Ensembl chr 4:155,455,495...155,467,424
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar
RGD
PMID:28492532 PMID:21395909 RGD:6483043 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
JBrowse link
G L3mbtl4 L3MBTL histone methyl-lysine binding protein 4 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 9:108,295,004...108,747,879 JBrowse link
G Lingo2 leucine rich repeat and Ig domain containing 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 5:50,370,744...51,687,252 JBrowse link
G LOC680885 hypothetical protein LOC680885 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:7,634,207...7,644,876
Ensembl chr16:7,634,207...7,644,876
JBrowse link
G Lrrc18 leucine rich repeat containing 18 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:8,253,524...8,277,439
Ensembl chr16:8,254,352...8,277,437
JBrowse link
G Man2a2 mannosidase, alpha, class 2A, member 2 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 1:134,304,714...134,327,611
Ensembl chr 1:134,306,236...134,327,315
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr11:83,280,722...83,356,006
Ensembl chr11:83,280,762...83,355,362
JBrowse link
G Mir128-1 microRNA 128-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29429387 NCBI chr13:39,699,449...39,699,530
Ensembl chr13:39,699,449...39,699,530
JBrowse link
G Mir195 microRNA 195 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25007945 NCBI chr10:54,951,838...54,951,924
Ensembl chr10:54,951,838...54,951,924
JBrowse link
G Mir206 microRNA 206 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25792468 NCBI chr 9:23,094,249...23,094,332
Ensembl chr 9:23,094,249...23,094,332
JBrowse link
G Msmb microseminoprotein, beta ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:7,366,536...7,387,124
Ensembl chr16:7,366,536...7,387,123
JBrowse link
G Mtcp1 mature T-cell proliferation 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr18:126,189...130,123 JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:25741868 NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
JBrowse link
G Ncoa4 nuclear receptor coactivator 4 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:7,389,222...7,409,564
Ensembl chr16:7,366,542...7,409,641
Ensembl chr16:7,366,542...7,409,641
JBrowse link
G Ngfr nerve growth factor receptor ISO protein:decreased expression:lamina propria:lack of staining is a marker for HD (human) RGD PMID:7807351 RGD:5508387 NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
JBrowse link
G Notch4 notch receptor 4 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
JBrowse link
G Nrg1 neuregulin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22974608 NCBI chr16:59,250,658...60,303,024
Ensembl chr16:59,250,854...60,296,884
JBrowse link
G Nrg3 neuregulin 3 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:28492532 NCBI chr16:14,229,270...15,352,505 JBrowse link
G Nrtn neurturin ISO RGD PMID:9700200 RGD:1600267 NCBI chr 9:1,581,860...1,587,835
Ensembl chr 9:1,581,975...1,583,102
JBrowse link
G Ntf3 neurotrophin 3 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO protein:altered expression:intestine RGD PMID:8943115 RGD:5684546 NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
JBrowse link
G Nup98 nucleoporin 98 and 96 precursor ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 1:156,494,423...156,591,415
Ensembl chr 1:156,494,423...156,591,415
JBrowse link
G Oas3 2'-5'-oligoadenylate synthetase 3 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr12:35,779,028...35,802,781
Ensembl chr12:35,779,022...35,802,781
JBrowse link
G Ogdhl oxoglutarate dehydrogenase L ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:7,578,305...7,604,385
Ensembl chr16:7,578,367...7,604,386
JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 1:202,437,503...202,569,473
Ensembl chr 1:202,437,505...202,569,473
JBrowse link
G Parg poly (ADP-ribose) glycohydrolase ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:7,436,429...7,544,276
Ensembl chr16:7,436,476...7,544,273
JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719
JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
JBrowse link
G Phax phosphorylated adaptor for RNA export ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr18:50,053,133...50,069,823
Ensembl chr18:50,053,023...50,069,823
JBrowse link
G Phox2b paired-like homeobox 2b ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978
JBrowse link
G Phrf1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 1:196,333,663...196,366,901
Ensembl chr 1:196,333,903...196,366,892
JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:25741868 NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146
JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
JBrowse link
G Ppid peptidylprolyl isomerase D ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 2:164,727,803...164,740,168
Ensembl chr 2:164,727,779...164,740,221
JBrowse link
G Prokr1 prokineticin receptor 1 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 4:120,022,301...120,033,379
Ensembl chr 4:120,021,747...120,033,379
JBrowse link
G Ret ret proto-oncogene susceptibility ISO ClinVar Annotator: match by term: Hirschsprung disease
ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
ClinVar Annotator: match by term: Hirschsprung's disease
ClinVar Annotator: match by term: Hirschsprung Disease, Dominant
DNA:SNPs:exon, intron:multiple
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hirschsprung disease, protection against
ClinVar
OMIM
CTD
RGD
PMID:2660074 PMID:3078962 PMID:7536460 PMID:7581377 PMID:7633441 More... RGD:12910713 NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
G RGD1560010 RGD1560010 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 2:164,762,994...164,766,126
Ensembl chr 2:164,762,960...164,766,128
JBrowse link
G RGD1564899 similar to chromosome 10 open reading frame 71 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:7,910,597...7,961,900
Ensembl chr16:7,910,433...7,961,958
JBrowse link
G Rxfp1 relaxin family peptide receptor 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 2:164,772,270...164,893,484
Ensembl chr 2:164,774,799...164,893,412
JBrowse link
G Sema3d semaphorin 3D ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:22,316,769...22,505,930
Ensembl chr 4:22,316,779...22,505,930
JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 1:229,996,673...230,259,591
Ensembl chr 1:229,998,119...230,259,603
JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:20972907 RGD:12801434 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:7,713,630...7,716,491 JBrowse link
G Slc22a1 solute carrier family 22 member 1 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 1:48,076,657...48,103,679
Ensembl chr 1:48,076,666...48,103,678
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:10975929 RGD:12879497 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
JBrowse link
G Slc8a1 solute carrier family 8 member A1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 6:13,194,609...13,547,369
Ensembl chr 6:13,194,662...13,535,628
JBrowse link
G Snf8 SNF8 subunit of ESCRT-II ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr10:80,984,337...80,996,724
Ensembl chr10:80,984,363...80,996,734
JBrowse link
G Sox10 SRY-box transcription factor 10 ISO DNA:frameshift:cds:
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
RGD
PMID:9560246 RGD:12802335 NCBI chr 7:110,725,274...110,735,544
Ensembl chr 7:110,725,274...110,735,544
JBrowse link
G Stx1a syntaxin 1A ISO RGD PMID:11345516 RGD:1581432 NCBI chr12:21,641,971...21,670,022
Ensembl chr12:21,641,969...21,669,930
JBrowse link
G Tbata thymus, brain and testes associated ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr20:29,118,055...29,135,124
Ensembl chr20:29,118,070...29,135,109
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Hirschsprung Disease ClinVar PMID:25741868 PMID:26017485 PMID:28492532 NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
JBrowse link
G Timm23 translocase of inner mitochondrial membrane 23 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:7,410,308...7,436,392
Ensembl chr16:7,409,688...7,436,379
JBrowse link
G Tmem165 transmembrane protein 165 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr14:31,993,489...32,018,717
Ensembl chr14:31,993,493...32,018,717
JBrowse link
G Tmem273 transmembrane protein 273 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:8,049,565...8,081,981
Ensembl chr16:8,049,669...8,081,981
JBrowse link
G Utp25 UTP25, small subunit processor component ISO CTD Direct Evidence: marker/mechanism CTD PMID:25007945 NCBI chr13:104,630,390...104,651,681
Ensembl chr13:104,630,391...104,651,662
JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606
JBrowse link
G Vstm4 V-set and transmembrane domain containing 4 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:8,120,336...8,200,272
Ensembl chr16:8,120,336...8,200,269
JBrowse link
G Wdfy4 WDFY family member 4 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:8,221,853...8,450,494
Ensembl chr16:8,221,719...8,450,491
JBrowse link
G Wnt8b Wnt family member 8B ISO RGD PMID:20972907 RGD:12801434 NCBI chr 1:243,353,841...243,375,297
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: Hirschsprung disease ClinVar NCBI chr10:60,584,665...60,622,352
Ensembl chr10:60,584,652...60,671,589
JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO Mowat-Wilson syndrome, OMIM:235730
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar
RGD
PMID:11279515 RGD:1599885 NCBI chr 3:29,219,765...29,342,094
Ensembl chr 3:29,218,301...29,345,157
JBrowse link
G Zfp592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 1:134,951,286...135,002,443
Ensembl chr 1:134,967,783...135,002,443
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 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600
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 2:50,801,897...50,875,428
Ensembl chr 2:50,800,992...50,876,866
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISS MouseDO NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
IVIC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sall4 spalt-like transcription factor 4 ISO ClinVar Annotator: match by term: IVIC syndrome OMIM
ClinVar
PMID:7395922 PMID:17256792 PMID:25741868 NCBI chr 3:157,474,067...157,491,055
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 ClinVar Annotator: match by term: Johanson-Blizzard syndrome
ClinVar Annotator: match by OMIM:243800
OMIM
ClinVar
PMID:16311597 PMID:18553553 PMID:19006206 PMID:24033266 PMID:25741868 More... NCBI chr 3:107,813,721...107,921,701
Ensembl chr 3:107,811,392...107,922,204
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 ClinVar Annotator: match by term: Mitchell-Riley syndrome
ClinVar Annotator: match by OMIM:615710
OMIM
ClinVar
PMID:15592663 PMID:18414213 PMID:18512226 PMID:19887127 PMID:20148032 More... NCBI chr20:31,020,221...31,073,266
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 Arhgap15 Rho GTPase activating protein 15 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:27,989,368...28,592,722
Ensembl chr 3:27,989,633...28,600,265
JBrowse link
G Gtdc1 glycosyltransferase-like domain containing 1 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar PMID:12920073 NCBI chr 3:28,766,666...29,064,305
Ensembl chr 3:28,766,645...29,162,271
JBrowse link
G Hnmt histamine N-methyltransferase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012
JBrowse link
G Kynu kynureninase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:27,778,646...27,929,470
Ensembl chr 3:27,778,772...27,929,488
JBrowse link
G Lrp1b LDL receptor related protein 1B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:24,594,302...26,715,037 JBrowse link
G Nxph2 neurexophilin 2 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:5,986,175...5,988,525
Ensembl chr 3:5,756,621...5,987,008
JBrowse link
G Spopl speckle type BTB/POZ protein like ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:6,074,681...6,148,508
Ensembl chr 3:6,078,310...6,108,794
JBrowse link
G Thsd7b thrombospondin type 1 domain containing 7B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr13:40,768,567...41,667,262
Ensembl chr13:40,768,570...41,666,501
JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:235730
OMIM
ClinVar
CTD
PMID:2030158 PMID:9536098 PMID:9719364 PMID:11279515 PMID:11448942 More... NCBI chr 3:29,219,765...29,342,094
Ensembl chr 3:29,218,301...29,345,157
JBrowse link
G Zeb2-as1 ZEB2 antisense RNA 1 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar PMID:12920073 NCBI chr 3:29,343,078...29,345,943 JBrowse link
multiple intestinal atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: INTESTINAL ATRESIA, MULTIPLE AND/OR INFLAMMATORY BOWEL DISEASE WITH OR WITHOUT IMMUNODEFICIENCY
ClinVar Annotator: match by term: Multiple gastrointestinal atresias
ClinVar PMID:23830146 PMID:24292712 PMID:25741868 PMID:28492532 NCBI chr 6:7,274,469...7,285,841
Ensembl chr 6:7,274,469...7,285,841
JBrowse link
G Ttc7a tetratricopeptide repeat domain 7A ISO ClinVar Annotator: match by term: Multiple gastrointestinal atresias
ClinVar Annotator: match by term: INTESTINAL ATRESIA, MULTIPLE AND/OR INFLAMMATORY BOWEL DISEASE WITH OR WITHOUT IMMUNODEFICIENCY
ClinVar Annotator: match by OMIM:243150
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23423984 PMID:23830146 More... NCBI chr 6:7,159,285...7,261,826
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 ClinVar Annotator: match by term: Mungan syndrome OMIM
ClinVar
PMID:14638363 PMID:25575569 PMID:25741868 NCBI chr 7:83,287,867...83,314,810
Ensembl chr 7:83,287,870...83,314,817
JBrowse link
PCWH syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpz myelin protein zero ISS OMIM:609136 MouseDO NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
ClinVar Annotator: match by term: PCWH Syndrome
ClinVar PMID:1636383 PMID:9462749 PMID:10482261 PMID:10762540 PMID:11026454 More... NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
JBrowse link
G Sox10 SRY-box transcription factor 10 severity ISO ClinVar Annotator: match by term: Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
ClinVar Annotator: match by term: PCWH Syndrome
ClinVar Annotator: match by OMIM:609136
OMIM
ClinVar
RGD
PMID:1636383 PMID:9462749 PMID:10482261 PMID:10762540 PMID:11026454 More... RGD:12802339 NCBI chr 7:110,725,274...110,735,544
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 4:6,954,017...6,963,170
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: Ciliary dyskinesia, primary, 31
ClinVar Annotator: match by term: Stromme syndrome
ClinVar Annotator: match by OMIM:243605
ClinVar
OMIM
PMID:8261651 PMID:25564561 PMID:25741868 PMID:25741878 PMID:26820108 More... NCBI chr13:101,184,127...101,229,714
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 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 Sox2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
ClinVar Annotator: match by term: Microphthalmia syndromic 3
ClinVar Annotator: match by OMIM:206900
OMIM
ClinVar
PMID:12002146 PMID:12612584 PMID:15346919 PMID:15389708 PMID:15812812 More... NCBI chr 2:117,536,929...117,539,338
Ensembl chr 2:117,536,929...117,539,338
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: Near-total intestinal aganglionosis
ClinVar Annotator: match by term: Total intestinal aganglionosis
ClinVar
RGD
PMID:16944573 PMID:18162831 PMID:25741868 PMID:30303587 PMID:21915282 More... RGD:6480217, RGD:6480215 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
JBrowse link
G Ednrbsl endothelin receptor type B, spotting lethal IAGP RGD PMID:21915282 PMID:22132166 RGD:6480217, RGD:6480215
Townes-Brocks syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dact1 dishevelled-binding antagonist of beta-catenin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:89,790,676...89,818,254
Ensembl chr 6:89,790,644...89,817,906
JBrowse link
G Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: Townes syndrome
ClinVar Annotator: match by term: Townes-Brocks syndrome 1
ClinVar Annotator: match by OMIM:107480
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8133838 PMID:9425907 PMID:9973281 PMID:10533063 PMID:10819639 More... NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705
JBrowse link
Townes-Brocks Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dact1 dishevelled-binding antagonist of beta-catenin 1 ISO ClinVar Annotator: match by term: TOWNES-BROCKS SYNDROME 2
ClinVar Annotator: match by term: Townes-Brocks syndrome 2
ClinVar
OMIM
PMID:25741868 PMID:28054444 NCBI chr 6:89,790,676...89,818,254
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 null
ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome
ClinVar PMID:10928856 PMID:14755477 PMID:28492532 NCBI chr19:18,005,782...18,022,705
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 2 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr 5:153,515,507...153,516,455
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 8:4,189,257...4,412,183
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 chr14:100,249,733...100,317,958
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 9:73,196,044...73,264,695
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 chr19:49,153,729...49,157,741
Ensembl chr19:49,153,699...49,157,738
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 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
JBrowse link
G Ift172 intraflagellar transport 172 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr 6:25,081,933...25,121,271 JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:25741868 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:p.C470R(mouse)
CTD
RGD
PMID:18519639 PMID:18519639 RGD:11556208 NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600
JBrowse link
G Qsox1 quiescin sulfhydryl oxidase 1 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr13:67,949,780...67,987,434
Ensembl chr13:67,949,780...67,987,459
JBrowse link
G Shh sonic hedgehog signaling molecule IEP RGD PMID:12632369 RGD:12801426 NCBI chr 4:6,954,017...6,963,170
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 chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415
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 chr10:528,961...655,179
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 1:96,447,224...96,501,464
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 chr18:73,571,870...73,597,088
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 chr18:74,176,863...74,368,993
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 chr12:21,431,985...21,489,956
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 chr12:21,496,856...21,510,202
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 chr10:1,779,834...1,946,586
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 Cbln2 cerebellin 2 precursor ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:79,940,412...79,948,766
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 chr18:82,449,924...82,545,107
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 chr10:714,051...736,826
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 chr12:21,708,538...21,710,010
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 chr12:21,751,638...21,753,436
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 chr12:22,163,044...22,227,023
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 chr18:77,984,886...78,030,837
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 chr18:78,039,924...78,057,030
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 chr18:73,854,277...73,916,232
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 chr18:78,213,067...78,245,677
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 chr12:21,628,323...21,629,389
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 chr18:82,572,762...83,015,951
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 chr12:22,083,155...22,099,876
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 chr12:21,968,544...22,011,929
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 chr18:78,296,999...78,634,695
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 1:184,745,418...184,850,655
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 chr12:21,318,251...21,390,350
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 chr12:21,427,084...21,429,398
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 6:21,756,039...21,977,533
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 chr18:75,772,021...75,787,577
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 chr12:22,400,933...22,476,243
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:67,385,288...67,593,014
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 chr18:73,682,286...73,690,061
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 chr18:73,742,224...73,810,420
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 chr12:22,104,163...22,118,294
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 chr12:22,026,697...22,060,605
Ensembl chr12:22,026,672...22,060,606
JBrowse link
G LOC100359752 hypothetical protein LOC100359752 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:78,159,334...78,202,319
Ensembl chr18:78,164,661...78,202,326
JBrowse link
G Marf1 meiosis regulator and mRNA stability factor 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr10:888,053...932,760
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 chr18:75,855,878...75,966,404
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 chr12:21,757,545...21,766,698
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 chr12:21,542,964...21,577,120
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 chr10:1,988,451...2,025,300
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 chr10:743,364...838,459
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 chr10:839,788...883,946
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 chr18:79,635,633...79,753,913
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 chr18:74,046,421...74,156,041
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 chr18:73,498,119...73,565,048
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:67,601,302...67,738,504
Ensembl chr  X:67,601,302...67,738,455
JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:73,639,260...73,648,942
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 chr12:22,120,449...22,133,576
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 chr18:82,220,999...82,398,334
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 chr18:74,406,058...74,425,754
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 chr18:73,702,472...73,739,678
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 chr18:82,111,866...82,139,193
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 chr12:21,641,971...21,670,022
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 chr12:21,517,600...21,532,114
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 chr18:78,314,900...78,319,362
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 chr12:21,793,631...21,798,723
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 chr18:83,731,763...83,764,374
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 chr18:77,376,399...77,452,315
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 chr18:73,659,107...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 chr12:21,609,210...21,614,669
Ensembl chr12:21,609,182...21,614,659
JBrowse link
G Zadh2 zinc binding alcohol dehydrogenase, domain containing 2 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 Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:75,976,478...76,072,428
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 chr18:77,571,140...77,970,282
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 chr18:76,286,453...76,386,526
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 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093
JBrowse link
G Ednrb endothelin receptor type B IAGP
ISO
ClinVar Annotator: match by term: Hirschsprung disease with pigmentary anomaly ClinVar
RGD
PMID:8001158 PMID:8852659 PMID:8852660 PMID:10090908 PMID:10458491 More... RGD:6480217 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
JBrowse link
G Ednrbsl endothelin receptor type B, spotting lethal IAGP RGD PMID:21915282 RGD:6480217
G Sox10 SRY-box transcription factor 10 ISO DNA:missense mutations,insertion,deletion:cds: RGD PMID:9462749 RGD:12832744 NCBI chr 7:110,725,274...110,735,544
Ensembl chr 7:110,725,274...110,735,544
JBrowse link
Waardenburg syndrome type 4A term browser