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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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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 chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 IEP mRNA:decreased expression:rectum (rat) RGD PMID:26514922 RGD:11052641 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
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 chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
G Gli3 GLI family zinc finger 3 IEP mRNA:decreased expression:rectum RGD PMID:27079746 RGD:12743602 NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
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 Ensembl chr 4:82,228,017...82,229,397 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 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO protein:decreased expression:somite RGD PMID:21480163 RGD:11556204 NCBI chr 1:236,031,988...236,313,858
Ensembl chr 1:236,031,988...236,313,858
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 4:718,538...727,691
Ensembl chr 4:718,538...727,691
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/esophageal adenocarcinoma OMIM
ClinVar
PMID:21791690 PMID:25741868 PMID:28492532 NCBI chr20:29,558,330...29,648,899
Ensembl chr20:29,558,689...29,648,893
JBrowse link
G B3gat2 beta-1,3-glucuronyltransferase 2 ISO DNA:hypermethylation:esophageal squamous epithelium RGD PMID:26545406 RGD:11552890 NCBI chr 9:29,984,077...30,068,649
Ensembl chr 9:29,984,077...30,068,649
JBrowse link
G Becn1 beclin 1 disease_progression IEP
ISO
RGD PMID:22301112, PMID:22301112 RGD:11561943, RGD:11561943 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO
IEP
protein:increased expression:esophagus: RGD PMID:17570215, PMID:17570215 RGD:8699511, RGD:8699511 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Cdh13 cadherin 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18729198 NCBI chr19:50,848,793...51,971,618
Ensembl chr19:50,848,736...51,972,103
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO protein:increased expression:nucleus of esophagus mucosa: RGD PMID:11753681 RGD:8662398 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Cdx2 caudal type homeo box 2 disease_progression ISO RGD PMID:23011828 RGD:7349348 NCBI chr12:9,464,026...9,470,565
Ensembl chr12:9,464,026...9,470,565
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 7:77,966,722...77,977,004
Ensembl chr 7:77,966,722...77,977,004
JBrowse link
G Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18059332 NCBI chr 1:256,382,861...256,386,729
Ensembl chr 1:256,382,791...256,386,729
JBrowse link
G Fas Fas cell surface death receptor severity ISO RGD PMID:10821489 RGD:12903968 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Foxp1 forkhead box P1 ISO DNA:snp:enhancer:g.70879779A>C (rs2687201) (human) RGD PMID:25447851 RGD:11560527 NCBI chr 4:131,362,178...131,963,466
Ensembl chr 4:131,366,744...131,694,755
JBrowse link
G Gast gastrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr10:88,245,532...88,248,485
Ensembl chr10:88,245,532...88,248,484
JBrowse link
G Gata6 GATA binding protein 6 disease_progression ISO protein:increased expression: esophagus squamous epithelium (human) RGD PMID:25445407 RGD:13208870 NCBI chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338
JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
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 chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G LOC103694540 zinc finger Y-chromosomal protein 2 ISO DNA:hypermethylation:esophageal squamous epithelium RGD PMID:26545406 RGD:11552890 NCBI chr  Y:182,497...222,212
Ensembl chr  Y:182,690...223,588
JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127259 NCBI chr 2:197,786,212...197,788,992 JBrowse link
G Mir223 microRNA 223 disease_progression ISO RGD PMID:23757351 RGD:21408587 NCBI chr  X:65,367,812...65,367,921
Ensembl chr  X:65,367,812...65,367,921
JBrowse link
G Mki67 marker of proliferation Ki-67 severity ISO RGD PMID:22147251 RGD:6483521 NCBI chr 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO DNA:insertion:promoter:g.-1607insG rs1799750 (human) RGD PMID:19321798 RGD:7207058 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO DNA:snp:promoter:g.-82A>G rs2276109 (human) RGD PMID:19321798 RGD:7207058 NCBI chr 8:5,594,717...5,616,494
Ensembl chr 8:5,606,592...5,616,493
JBrowse link
G Msr1 macrophage scavenger receptor 1 ISO ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma OMIM
ClinVar
PMID:21791690 NCBI chr16:56,817,714...56,900,025
Ensembl chr16:56,813,791...56,900,052
JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming disease_progression ISO RGD PMID:23011828 RGD:7349348 NCBI chr 1:214,663,929...214,693,197 JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21977915 NCBI chr11:65,022,100...65,058,546
Ensembl chr11:65,022,100...65,058,545
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Ptges prostaglandin E synthase IEP mRNA:increased expression:esophagus RGD PMID:14684572 RGD:2300107 NCBI chr 3:9,727,408...9,738,752
Ensembl chr 3:9,727,408...9,738,752
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression IMP
ISO
mRNA: increased expression: Esophagus
CTD Direct Evidence: marker/mechanism
CTD PMID:11059772 PMID:15387324 PMID:17244951, PMID:17675820, PMID:12105834, PMID:23011828 RGD:1642603, RGD:13207438, RGD:7349348 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:15387324 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G Rprm reprimo, TP53 dependent G2 arrest mediator homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121882 NCBI chr 3:39,595,301...39,596,718
Ensembl chr 3:39,595,301...39,596,718
JBrowse link
G Slc9a1 solute carrier family 9 member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127259 NCBI chr 5:151,573,122...151,626,360
Ensembl chr 5:151,573,092...151,627,316
JBrowse link
G Sst somatostatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17999418 NCBI chr11:80,358,172...80,359,449
Ensembl chr11:80,358,211...80,359,444
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human) RGD PMID:25910066 RGD:11055189 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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 chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Cd14 CD14 molecule disease_progression ISO mRNA, protein:increased expression:liver, plasma: RGD PMID:21172039 RGD:7184431 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Dlk1 delta like non-canonical Notch ligand 1 ISO RGD PMID:14743499 RGD:1625622 NCBI chr 6:133,576,513...133,583,751
Ensembl chr 6:133,552,821...133,583,751
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 disease_progression ISO RGD PMID:29056230 RGD:14701039 NCBI chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068
JBrowse link
G Gli2 GLI family zinc finger 2 disease_progression ISO RGD PMID:25746691 RGD:12802349 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:16627878 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
G Icam1 intercellular adhesion molecule 1 susceptibility ISO DNA:missense mutation:cds:p.G241R (human) RGD PMID:18401716 RGD:14402043 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Mir145 microRNA 145 IEP miRNA:decreased expression:liver (human) RGD PMID:28902846 RGD:15039396 NCBI chr18:56,969,907...56,969,994
Ensembl chr18:56,969,907...56,969,994
JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:liver RGD PMID:28355202, PMID:27817193 RGD:24922206, RGD:25671379 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Pten phosphatase and tensin homolog ISO mRNA:decreased expression:liver (human) RGD PMID:25487473 RGD:12832754 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Shh sonic hedgehog signaling molecule disease_progression ISO RGD PMID:25746691 RGD:12802349 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
G Sox17 SRY-box transcription factor 17 ISS MouseDO NCBI chr 5:14,890,318...14,895,907
Ensembl chr 5:14,890,408...14,895,907
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 3:111,049,132...111,061,991
Ensembl chr 3:111,049,118...111,062,011
JBrowse link
G Spint2 serine peptidase inhibitor, Kunitz type, 2 ISO mRNA,protein:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 1:87,199,373...87,221,826
Ensembl chr 1:87,199,313...87,221,892
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:15845635 RGD:1581370 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO RGD PMID:30686515 RGD:14985228 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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 chr18:76,637,415...76,661,186
Ensembl chr18:76,637,785...76,653,056
JBrowse link
G Atp9b ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:77,343,551...77,535,608
Ensembl chr18:77,343,551...77,535,593
JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,922,913...76,985,095
Ensembl chr18:76,922,934...76,984,203
JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:79,243,009...79,258,570
Ensembl chr18:79,243,009...79,258,570
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 chr18:76,748,067...76,754,642
Ensembl chr18:76,748,067...76,753,902
JBrowse link
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,808,294...76,880,742
Ensembl chr18:76,809,144...76,878,981
JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:79,326,738...79,437,310
Ensembl chr18:79,326,738...79,437,310
JBrowse link
G Nfatc1 nuclear factor of activated T-cells 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:77,203,517...77,322,690
Ensembl chr18:77,203,525...77,322,690
JBrowse link
G Pard6g par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,559,877...76,627,843
Ensembl chr18:76,559,811...76,628,041
JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,704,223...76,714,387
Ensembl chr18:76,704,220...76,714,486
JBrowse link
G Sall3 spalt-like transcription factor 3 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:77,572,200...77,591,710
Ensembl chr18:77,573,702...77,579,969
JBrowse link
G Slc66a2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,768,466...76,805,773
Ensembl chr18:76,770,012...76,805,766
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 NCBI chr18:76,725,221...76,740,673
Ensembl chr18:76,725,247...76,740,688
JBrowse link
G Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:79,447,384...79,543,271
Ensembl chr18:79,451,204...79,543,219
JBrowse link
G Zfp516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:79,768,387...79,857,909
Ensembl chr18:79,773,608...79,854,192
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 chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195
JBrowse link
G Ttc26 tetratricopeptide repeat domain 26 ISO ClinVar Annotator: match by term: Caroli disease ClinVar NCBI chr 4:66,090,178...66,147,998
Ensembl chr 4:66,090,209...66,148,001
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 chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120
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 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:16097009 PMID:16254002 PMID:16838329 PMID:17701897 PMID:25741868 PMID:28094436 PMID:28492532 NCBI chr 5:58,995,211...58,998,620
Ensembl chr 5:58,995,249...58,997,953
JBrowse link
choledochal cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 4:85,551,503...85,563,683
Ensembl chr 4:85,551,502...85,569,360
JBrowse link
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO CTD Direct Evidence: marker/mechanism
DNA:deletion:exon:
CTD PMID:18988797, PMID:15830394 RGD:14700991 NCBI chr 9:26,164,969...26,736,704 JBrowse link
G Sct secretin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 1:214,264,865...214,277,437
Ensembl chr 1:214,264,754...214,265,668
JBrowse link
G Slc4a2 solute carrier family 4 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 4:7,264,677...7,282,355
Ensembl chr 4:7,264,683...7,281,223
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 chr11:84,395,982...84,490,215
Ensembl chr11:84,396,033...84,490,211
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 chr11:84,026,206...84,037,938
Ensembl chr11:84,026,207...84,037,938
JBrowse link
G Actl6a actin-like 6A ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:119,112,776...119,128,870
Ensembl chr 2:119,112,513...119,129,751
JBrowse link
G Alg3 ALG3, alpha-1,3- mannosyltransferase ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:83,985,484...83,991,706
Ensembl chr11:83,986,230...83,991,706
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 chr11:84,041,184...84,047,542
Ensembl chr11:84,041,184...84,047,546
JBrowse link
G Atp11b ATPase phospholipid transporting 11B (putative) ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:122,337,757...122,445,090
Ensembl chr 2:122,368,265...122,444,878
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 chr11:84,919,055...84,931,160
Ensembl chr11:84,919,066...84,931,160
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 chr11:83,975,430...83,976,557
Ensembl chr11:83,975,367...83,976,588
JBrowse link
G Ccdc39 coiled-coil domain containing 39 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:120,278,605...120,367,829
Ensembl chr 2:120,278,605...120,316,600
JBrowse link
G Chrd chordin ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:83,858,503...83,867,543
Ensembl chr11:83,858,503...83,867,203
JBrowse link
G Clcn2 chloride voltage-gated channel 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:82,862,664...82,876,165
Ensembl chr11:83,883,879...83,897,394
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 2:122,476,173...122,527,153
Ensembl chr 2:122,476,173...122,646,445
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 2:120,503,093...120,531,782
Ensembl chr 2:120,504,130...120,531,782
JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:84,051,177...84,068,479
Ensembl chr11:84,051,078...84,068,302
JBrowse link
G Ece2 endothelin-converting enzyme 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:83,948,896...83,985,429
Ensembl chr11:83,948,230...83,964,055
JBrowse link
G Eef1akmt4 EEF1A lysine methyltransferase 4 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:83,977,841...83,985,429
Ensembl chr11:83,977,664...83,985,385
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 chr11:82,945,104...82,978,364
Ensembl chr11:82,945,104...82,978,364
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 chr11:84,080,273...84,090,259
Ensembl chr11:84,080,273...84,090,259
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 chr11:83,907,659...83,927,683
Ensembl chr11:83,908,109...83,926,524
JBrowse link
G Ephb3 Eph receptor B3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:83,527,960...83,546,742
Ensembl chr11:83,527,962...83,546,674
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 chr11:83,897,330...83,907,292
Ensembl chr11:83,896,873...83,905,889
JBrowse link
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:120,529,716...120,570,356
Ensembl chr 2:120,512,899...120,570,355
JBrowse link
G Gnb4 G protein subunit beta 4 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:118,978,965...119,007,877
Ensembl chr 2:118,978,973...119,007,835
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 chr11:82,466,071...82,621,105
Ensembl chr11:82,466,071...82,621,079
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 2:118,276,298...118,585,321
Ensembl chr 2:118,546,829...118,586,699
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 2:118,868,225...118,882,562
Ensembl chr 2:118,868,225...118,882,562
JBrowse link
G Klhl24 kelch-like family member 24 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:84,613,101...84,643,674
Ensembl chr11:84,615,760...84,633,504
JBrowse link
G Klhl6 kelch-like family member 6 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:84,745,958...84,785,315
Ensembl chr11:84,745,904...84,785,893
JBrowse link
G Lamp3 lysosomal-associated membrane protein 3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:84,930,965...85,000,694
Ensembl chr11:84,972,132...85,000,681
JBrowse link
G Liph lipase H ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:82,680,167...82,732,145 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 chr11:82,744,391...82,938,357
Ensembl chr11:82,745,735...82,938,357
JBrowse link
G Map6d1 MAP6 domain containing 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:84,321,078...84,327,307
Ensembl chr11:84,321,078...84,327,307
JBrowse link
G Mccc1 methylcrotonoyl-CoA carboxylase 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:122,550,777...122,690,540
Ensembl chr 2:122,550,775...122,690,617
JBrowse link
G Mfn1 mitofusin 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:118,929,738...118,971,689
Ensembl chr 2:118,929,738...118,973,698
JBrowse link
G Mir1224 microRNA 1224 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:83,992,628...83,992,712
Ensembl chr11:83,992,628...83,992,712
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 PMID:16906559 PMID:25741868 NCBI chr 4:2,376,350...2,381,308
Ensembl chr 4:2,376,958...2,381,271
JBrowse link
G Mrpl47 mitochondrial ribosomal protein L47 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:119,128,311...119,139,451
Ensembl chr 2:119,128,309...119,139,451
JBrowse link
G Ndufb5 NADH:ubiquinone oxidoreductase subunit B5 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:119,139,717...119,153,753
Ensembl chr 2:119,139,717...119,153,753
JBrowse link
G Parl presenilin associated, rhomboid-like ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:84,517,368...84,544,463
Ensembl chr11:84,517,368...84,544,462
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:236,031,988...236,313,858
Ensembl chr 1:236,031,988...236,313,858
JBrowse link
G Pex5l peroxisomal biogenesis factor 5-like ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:119,330,330...119,405,809
Ensembl chr 2:119,330,080...119,537,837
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 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
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 chr11:83,877,760...83,882,208
Ensembl chr11:83,878,006...83,882,117
JBrowse link
G Psmd2 proteasome 26S subunit, non-ATPase 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:83,934,098...83,944,725
Ensembl chr11:83,934,087...83,944,763
JBrowse link
G RGD1562339 RGD1562339 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:83,048,441...83,098,649
Ensembl chr11:83,048,636...83,094,372
JBrowse link
G Senp2 SUMO specific peptidase 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:82,627,973...82,664,702
Ensembl chr11:82,630,436...82,664,630
JBrowse link
G Sox2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:121,165,137...121,167,545
Ensembl chr 2:121,165,137...121,167,545
JBrowse link
G Thpo thrombopoietin ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:82,845,676...82,853,439
Ensembl chr11:83,868,655...83,873,910
Ensembl chr11:83,868,655...83,873,910
JBrowse link
G Tmem41a transmembrane protein 41a ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:82,734,525...82,741,177
Ensembl chr11:82,734,613...82,741,428
JBrowse link
G Ttc14 tetratricopeptide repeat domain 14 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:120,266,883...120,277,505
Ensembl chr 2:120,266,933...120,276,616
JBrowse link
G Usp13 ubiquitin specific peptidase 13 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:119,197,153...119,317,507
Ensembl chr 2:119,197,239...119,317,500
JBrowse link
G Vps8 VPS8 subunit of CORVET complex ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:83,104,912...83,323,606
Ensembl chr11:83,105,064...83,300,409
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 chr11:83,991,793...84,008,946
Ensembl chr11:83,992,076...84,008,946
JBrowse link
G Yeats2 YEATS domain containing 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:84,330,064...84,595,296
Ensembl chr11:84,330,064...84,583,542
JBrowse link
G Zfp639 zinc finger protein 639 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:118,906,479...118,917,491
Ensembl chr 2:118,910,587...118,916,563
JBrowse link
G Zmat3 zinc finger, matrin type 3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:118,715,229...118,746,109
Ensembl chr 2:118,721,334...118,745,766
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 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
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 8:77,640,234...77,719,488
Ensembl chr 8:77,640,222...77,719,489
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 PMID:1536179 PMID:1673094 PMID:1756602 PMID:1997384 PMID:2210767 PMID:2220803 PMID:2233932 PMID:2236053 PMID:2300168 PMID:2378364 PMID:2475911 PMID:2570460 PMID:7537148 PMID:7691813 PMID:9135274 PMID:9439669 PMID:10782933 PMID:10950058 PMID:11280952 PMID:11733566 PMID:15141088 PMID:15246977 PMID:15367919 PMID:15371902 PMID:17206681 PMID:17692578 PMID:18234567 PMID:18507830 PMID:19227414 PMID:19837664 PMID:19846789 PMID:19878303 PMID:19885835 PMID:19925455 PMID:20021716 PMID:20580320 PMID:20595578 PMID:20628052 PMID:20667826 PMID:20687163 PMID:20696241 PMID:20705837 PMID:20977904 PMID:21097845 PMID:21111762 PMID:21152102 PMID:21411740 PMID:21486785 PMID:21520337 PMID:21594800 PMID:21602569 PMID:21825083 PMID:21907281 PMID:21965669 PMID:21976485 PMID:21983488 PMID:22020151 PMID:22293084 PMID:22332135 PMID:22369017 PMID:22383668 PMID:22427236 PMID:22449949 PMID:22569626 PMID:22658665 PMID:22680785 PMID:22942289 PMID:22975760 PMID:22981120 PMID:22992668 PMID:22999299 PMID:23067305 PMID:23104983 PMID:23857699 PMID:23891399 PMID:23951356 PMID:23974870 PMID:24033266 PMID:24375076 PMID:24559724 PMID:24973281 PMID:25148434 PMID:25741868 PMID:25741869 PMID:25981758 PMID:26095523 PMID:26467025 PMID:26574590 PMID:26581802 PMID:26618866 PMID:26627831 PMID:26648081 PMID:26968770 PMID:26976279 PMID:27214033 PMID:27298017 PMID:27334259 PMID:27805836 PMID:27898234 PMID:28129809 PMID:28325531 PMID:28492532 PMID:28603918 PMID:28606620 PMID:29099333 PMID:29126871 PMID:29327948 PMID:29451946 PMID:31788424 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO RGD PMID:15185216 RGD:12801491 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Gucy2c guanylate cyclase 2C ISO ClinVar Annotator: match by term: Duodenal atresia ClinVar NCBI chr 4:170,659,993...170,740,274
Ensembl chr 4:170,659,998...170,740,274
JBrowse link
G LOC500354 similar to C030030A07Rik protein ISO ClinVar Annotator: match by term: Duodenal atresia ClinVar NCBI chr 4:170,807,633...170,822,514
Ensembl chr 4:170,820,594...170,821,995
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 3:80,634,470...80,830,068
Ensembl chr 3:80,634,470...80,830,068
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
G Atp6v0a1 ATPase H+ transporting V0 subunit a1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr10:88,914,264...88,967,736
Ensembl chr10:88,914,276...88,967,748
JBrowse link
G C2cd4a C2 calcium-dependent domain containing 4A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 8:73,671,516...73,686,344
Ensembl chr 8:73,672,295...73,673,317
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
JBrowse link
G Cdc27 cell division cycle 27 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr10:92,551,754...92,602,214
Ensembl chr10:92,554,081...92,602,082
JBrowse link
G Cmip c-Maf-inducing protein ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr19:49,792,273...50,000,535
Ensembl chr19:49,792,273...50,000,535
JBrowse link
G Drosha drosha ribonuclease III ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:62,887,267...63,000,307
Ensembl chr 2:62,887,267...62,999,572
JBrowse link
G Dscam DS cell adhesion molecule ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr11:37,004,776...37,599,866
Ensembl chr11:37,004,902...37,253,776
JBrowse link
G Dst dystonin ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 9:37,902,336...38,296,961
Ensembl chr 9:37,902,303...38,196,273
JBrowse link
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO DNA:mutations:multiple (human) RGD PMID:23188108 RGD:10045556 NCBI chr10:90,932,071...90,983,971
Ensembl chr10:90,932,075...90,983,928
JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO DNA:deletion:: (human) RGD PMID:20740495 RGD:12792229 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Hoxc4 homeo box C4 ISO mRNA:decreased expression:lung (mouse) RGD PMID:17211587 RGD:10402180 NCBI chr 7:144,646,605...144,652,589
Ensembl chr 7:144,647,587...144,650,129
JBrowse link
G Igsf3 immunoglobulin superfamily, member 3 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:203,768,364...203,855,573
Ensembl chr 2:203,768,117...203,855,573
JBrowse link
G Insr insulin receptor ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Itgb1 integrin subunit beta 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr19:61,677,512...61,725,537
Ensembl chr19:61,677,542...61,725,535
JBrowse link
G Kcna6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 4:159,253,934...159,287,193
Ensembl chr 4:159,253,934...159,287,193
JBrowse link
G Mid2 midline 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:112,019,897...112,121,980
Ensembl chr  X:112,020,646...112,121,943
JBrowse link
G Nags N-acetylglutamate synthase ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr10:90,084,607...90,089,693
Ensembl chr10:90,085,559...90,089,693
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Pde4d phosphodiesterase 4D ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:40,219,999...41,468,551
Ensembl chr 2:40,554,146...41,464,264
JBrowse link
G Plk2 polo-like kinase 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 2:41,911,143...41,916,901
Ensembl chr 2:41,911,131...41,916,901
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:14,271,012...14,331,745
Ensembl chr  X:14,271,017...14,331,486
JBrowse link
G Sipa1 signal-induced proliferation-associated 1 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 1:221,006,305...221,018,820
Ensembl chr 1:221,006,340...221,015,929
JBrowse link
G Stat5a signal transducer and activator of transcription 5A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr10:88,764,732...88,789,060
Ensembl chr10:88,764,732...88,789,057
JBrowse link
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar PMID:28492532 NCBI chr18:65,285,320...65,507,983
Ensembl chr18:65,155,685...65,507,977
JBrowse link
G Tenm2 teneurin transmembrane protein 2 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr10:20,846,091...21,791,771
Ensembl chr10:20,844,899...21,265,026
JBrowse link
G Tent5a terminal nucleotidyltransferase 5A ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 8:92,935,474...92,942,267
Ensembl chr 8:92,937,739...92,942,076
JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: Esophageal atresia ClinVar NCBI chr  X:15,112,663...15,123,825
Ensembl chr  X:15,113,878...15,122,146
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 PMID:11307153 PMID:15070707 PMID:15131399 PMID:15340362 PMID:15382066 PMID:16168118 PMID:16683254 PMID:17148771 PMID:17972171 PMID:18042939 PMID:19471317 PMID:19863560 PMID:20104584 PMID:20694749 PMID:20736950 PMID:21120943 PMID:21324516 PMID:23199084 PMID:23318356 PMID:23621881 PMID:24033266 PMID:24055113 PMID:24156927 PMID:25525159 PMID:25637381 PMID:25741868 PMID:26295337 PMID:26467025 PMID:27741520 PMID:28008555 PMID:28294317 PMID:28492532 PMID:28724667 PMID:29339979 PMID:29360161 PMID:29478780 PMID:29907814 PMID:29909963 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Brip1 BRCA1 interacting protein C-terminal 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 PMID:19127258 PMID:19763819 PMID:20177395 PMID:20639400 PMID:21165771 PMID:21345144 PMID:21964575 PMID:22006311 PMID:24240112 PMID:24556621 PMID:25741868 PMID:25980754 PMID:26315354 PMID:26467025 PMID:26681312 PMID:26822949 PMID:26845104 PMID:26921362 PMID:26968956 PMID:27179029 PMID:28492532 PMID:29368626 NCBI chr10:73,507,009...73,632,742
Ensembl chr10:73,507,100...73,629,581
JBrowse link
G Gli2 GLI family zinc finger 2 IEP RGD PMID:12947339 RGD:12801415 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
G Nog noggin ISO
ISS
OMIM:189960 MouseDO PMID:17260385 RGD:12801454 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
JBrowse link
G Shh sonic hedgehog signaling molecule IEP RGD PMID:25003913 RGD:12801416 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
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 PMID:19200522 RGD:11576290 NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
JBrowse link
G Flna filamin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632775 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
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
PMID:10982179 PMID:17334363 PMID:18414213 PMID:23757202 PMID:24728327 PMID:25326637 PMID:25741868 PMID:26273451 PMID:26813965 PMID:28492532, PMID:17334363, PMID:20507344 RGD:12910952, RGD:12910948 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812
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:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: FG syndrome 1 OMIM
ClinVar
PMID:10405444 PMID:10982179 PMID:17334363 PMID:18414213 PMID:18691967 PMID:18805826 PMID:18973276 PMID:19938245 PMID:20981778 PMID:23091001 PMID:23757202 PMID:24728327 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26273451 PMID:26338144 PMID:26813965 PMID:28369444 PMID:28492532 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812
JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:71,199,390...71,227,460
Ensembl chr  X:71,199,491...71,222,732
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 PMID:28492532 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
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:18414213 PMID:19165920 PMID:19200522 PMID:19377476 PMID:20029458 PMID:21609947 PMID:21735175 PMID:21954287 PMID:22452838 PMID:22709267 PMID:23165780 PMID:24893065 PMID:25741868 PMID:26467025 PMID:27799067 PMID:28492532 PMID:28783747 PMID:29691940 NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
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:10,022,986...10,043,504
Ensembl chr  X:10,023,489...10,031,167
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:9,992,832...10,001,036
Ensembl chr  X:9,998,415...9,999,401
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 5:173,340,060...173,354,756
Ensembl chr 5:173,340,060...173,354,755
JBrowse link
G Actrt2 actin-related protein T2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,077,290...172,078,690
Ensembl chr 5:172,077,282...172,078,760
JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,589,910...173,622,813
Ensembl chr 5:173,589,819...173,622,645
JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,237,642...173,239,899
Ensembl chr 5:173,237,642...173,239,899
JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,189,590...173,209,809
Ensembl chr 5:173,189,592...173,209,768
JBrowse link
G Aurkaip1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,274,433...173,276,170
Ensembl chr 5:173,256,637...173,276,169
JBrowse link
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,423,475...173,425,611
Ensembl chr 5:173,423,475...173,425,611
JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,390,901...173,395,276
Ensembl chr 5:173,390,901...173,395,276
JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,256,301...173,268,279
Ensembl chr 5:173,256,637...173,276,169
JBrowse link
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,051,900...173,078,049
Ensembl chr 5:173,052,063...173,078,046
JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,817,221...172,884,996
Ensembl chr 5:172,825,072...172,858,053
JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,314,219...173,318,384
Ensembl chr 5:173,314,228...173,318,313
JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,295,948...173,308,014
Ensembl chr 5:173,296,270...173,307,945
JBrowse link
G Faap20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,648,171...172,655,576
Ensembl chr 5:172,648,950...172,655,576
JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,139,345...173,141,564 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 5:172,797,478...172,809,374
Ensembl chr 5:172,797,450...172,809,353
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,364,421...172,365,188
Ensembl chr 5:172,364,421...172,365,188
JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,318,435...173,336,930
Ensembl chr 5:173,318,479...173,336,930
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:25741868 PMID:26467025 PMID:28277559 PMID:28492532 NCBI chr20:32,191,731...32,211,295
Ensembl chr20:32,191,734...32,211,453
JBrowse link
G Mib2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,082,943...173,099,353
Ensembl chr 5:173,082,943...173,098,816
JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,489,366...173,489,454 JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,490,144...173,490,238
Ensembl chr 5:173,490,144...173,490,238
JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,488,331...173,488,415
Ensembl chr 5:173,488,331...173,488,415
JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,273,450...172,303,905
Ensembl chr 5:172,273,459...172,304,225
JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,078,811...173,082,834
Ensembl chr 5:173,078,590...173,081,839
JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,489,160...172,547,102
Ensembl chr 5:172,488,708...172,547,058
JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,248,245...173,252,775
Ensembl chr 5:173,248,245...173,252,775
JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,288,200...173,292,926
Ensembl chr 5:173,288,447...173,292,929
JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,984,930...173,015,505
Ensembl chr 5:172,986,291...173,015,494
JBrowse link
G Pank4 pantothenate kinase 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,367,593...172,384,077
Ensembl chr 5:172,367,398...172,384,269
JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,469,978...172,475,144
Ensembl chr 5:172,469,978...172,475,144
JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,386,400...172,455,965
Ensembl chr 5:172,388,598...172,424,081
JBrowse link
G Prkcz protein kinase C, zeta ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,658,071...172,769,492
Ensembl chr 5:172,658,748...172,769,421
JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,304,799...172,307,402
Ensembl chr 5:172,304,758...172,307,431
JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,326,755...173,339,934
Ensembl chr 5:173,336,034...173,340,026
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 5:172,476,746...172,488,822
Ensembl chr 5:172,476,747...172,488,822
JBrowse link
G RGD1311517 similar to RIKEN cDNA 9430015G10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,542,058...173,559,761
Ensembl chr 5:173,542,358...173,559,761
JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,561,016...173,566,844 JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,425,922...173,444,478
Ensembl chr 5:173,425,907...173,444,620
JBrowse link
G Ski SKI proto-oncogene ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:12419246 PMID:12857746 PMID:19112531 PMID:19114989 PMID:23023332 PMID:23103230 PMID:24033266 PMID:24357594 PMID:24736733 PMID:25326635 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 5:172,556,196...172,623,878
Ensembl chr 5:172,559,135...172,623,899
JBrowse link
G Slc35e2b solute carrier family 35, member E2B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,024,335...173,050,228
Ensembl chr 5:173,024,335...173,046,194
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 5:173,152,964...173,182,720
Ensembl chr 5:173,152,964...173,182,719
JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,307,325...173,312,950
Ensembl chr 5:173,308,870...173,312,023
JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,182,815...173,189,683
Ensembl chr 5:173,183,990...173,188,924
JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,887,587...172,889,349
Ensembl chr 5:172,887,217...172,889,383
JBrowse link
G Tmem88b transmembrane protein 88B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,230,364...173,233,188
Ensembl chr 5:173,230,364...173,233,188
JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,328,259...172,337,221
Ensembl chr 5:172,328,262...172,335,892
JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,459,371...173,463,980
Ensembl chr 5:173,460,354...173,463,140
JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,447,784...173,450,474
Ensembl chr 5:173,447,784...173,450,474
JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,253,257...172,271,056
Ensembl chr 5:172,259,520...172,269,213
JBrowse link
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,471,020...173,517,783
Ensembl chr 5:173,471,010...173,484,986
JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:173,372,659...173,387,084
Ensembl chr 5:173,372,669...173,387,104
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 5:173,216,737...173,221,923
Ensembl chr 5:173,216,741...173,222,440
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 1:225,184,883...225,429,638
Ensembl chr 1:225,184,939...225,215,015
JBrowse link
G Ccr9 C-C motif chemokine receptor 9 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 8:132,827,325...132,842,130
Ensembl chr 8:132,828,091...132,842,130
JBrowse link
G Cluh clustered mitochondria homolog ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr10:61,432,872...61,454,445
Ensembl chr10:61,432,819...61,454,444
JBrowse link
G Cntn5 contactin 5 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 8:7,812,371...9,033,962
Ensembl chr 8:7,814,895...8,524,643
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
JBrowse link
G Dennd3 DENN domain containing 3 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 7:114,724,644...114,812,471
Ensembl chr 7:114,724,610...114,812,708
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 PMID:9439663 PMID:9470816 PMID:9686374 PMID:10071185 PMID:10657402 PMID:10803677 PMID:11156223 PMID:11350878 PMID:11555601 PMID:11895907 PMID:11953843 PMID:11988088 PMID:12209976 PMID:12360106 PMID:12912951 PMID:15017333 PMID:15858133 PMID:16151913 PMID:16361556 PMID:17000685 PMID:17064846 PMID:17121937 PMID:17165084 PMID:17203168 PMID:17335544 PMID:17700593 PMID:18299612 PMID:18443386 PMID:18600527 PMID:19104657 PMID:19473056 PMID:19795123 PMID:19858398 PMID:20385995 PMID:20507294 PMID:20530282 PMID:20803296 PMID:20809970 PMID:20819423 PMID:21410976 PMID:21498394 PMID:21723269 PMID:21919607 PMID:22339448 PMID:22992668 PMID:23328581 PMID:23335937 PMID:23481061 PMID:23585145 PMID:23603345 PMID:23736036 PMID:23930673 PMID:24167597 PMID:24590654 PMID:24647007 PMID:24648345 PMID:24700034 PMID:24817302 PMID:24923815 PMID:25381393 PMID:25410891 PMID:25590979 PMID:25677447 PMID:25741868 PMID:26099996 PMID:26216193 PMID:26265035 PMID:26467025 PMID:26603945 PMID:26794347 PMID:26804652 PMID:26846104 PMID:26967565 PMID:27454530 PMID:27738344 PMID:27864592 PMID:28295243 PMID:28481884 PMID:28929491 PMID:29065426 PMID:29134491 PMID:29152729 PMID:30348537 NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:28492532 NCBI chr 8:5,217,054...5,436,969
Ensembl chr 8:5,217,217...5,429,581
JBrowse link
G Fat3 FAT atypical cadherin 3 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 8:14,417,039...15,011,596
Ensembl chr 8:14,417,584...14,880,644
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:25741868 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
JBrowse link
G Gfra1 GDNF family receptor alpha 1 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 1:279,203,046...279,572,789 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 chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
JBrowse link
G Ihh Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 9:82,208,223...82,214,440
Ensembl chr 9:82,208,223...82,214,440
JBrowse link
G Irak3 interleukin-1 receptor-associated kinase 3 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:28492532 NCBI chr 7:64,922,830...64,982,224
Ensembl chr 7:64,923,615...64,982,281
JBrowse link
G Kdr kinase insert domain receptor ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:24728327 PMID:28492532 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Lrba LPS responsive beige-like anchor protein ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:28492532 NCBI chr 2:185,590,983...186,110,491
Ensembl chr 2:185,524,774...186,110,495
JBrowse link
G Lztfl1 leucine zipper transcription factor-like 1 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 8:132,774,393...132,790,922
Ensembl chr 8:132,775,587...132,790,839
JBrowse link
G Nav2 neuron navigator 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 1:104,575,765...104,941,554
Ensembl chr 1:104,576,589...104,941,552
JBrowse link
G Ncln nicalin ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 7:11,081,544...11,091,583
Ensembl chr 7:11,081,536...11,091,584
JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:24728327 PMID:28492532 NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215
JBrowse link
G Nrp2 neuropilin 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 9:69,496,875...69,609,802
Ensembl chr 9:69,497,121...69,612,087
JBrowse link
G Ntf3 neurotrophin 3 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 4:158,636,883...158,705,886
Ensembl chr 4:158,636,884...158,705,886
JBrowse link
G Nup98 nucleoporin 98 and 96 precursor ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 1:167,213,866...167,308,851
Ensembl chr 1:167,213,866...167,308,851
JBrowse link
G Olr1376 olfactory receptor 1376 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr10:12,673,136...12,674,077
Ensembl chr10:12,673,136...12,674,077
JBrowse link
G Pcdha1 protocadherin alpha 1 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr18:29,951,094...30,215,896 JBrowse link
G Pcdha10 protocadherin alpha 10 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr18:30,010,918...30,215,896
Ensembl chr18:29,987,206...30,215,897
JBrowse link
G Pcdha11 protocadherin alpha 11 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr18:30,017,918...30,215,896
Ensembl chr18:29,987,206...30,215,897
JBrowse link
G Pcdha12 protocadherin alpha 12 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr18:30,023,828...30,215,896
Ensembl chr18:29,987,206...30,215,897
JBrowse link
G Pcdha13 protocadherin alpha 13 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr18:30,036,887...30,215,897
Ensembl chr18:29,987,206...30,215,897
JBrowse link
G Pcdha2 protocadherin alpha 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr18:29,960,072...30,215,896 JBrowse link
G Pcdha3 protocadherin alpha 3 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr18:29,966,245...30,215,896 JBrowse link
G Pcdha4 protocadherin alpha 4 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr18:29,950,217...30,215,901
Ensembl chr18:29,987,206...30,215,897
Ensembl chr18:29,987,206...30,215,897
Ensembl chr18:29,987,206...30,215,897
JBrowse link
G Pcdha5 protocadherin alpha 5 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr18:29,980,268...30,215,897 JBrowse link
G Pcdha6 protocadherin alpha 6 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr18:29,987,206...30,215,896
Ensembl chr18:29,987,206...30,215,897
JBrowse link
G Pcdha7 protocadherin alpha 7 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr18:29,993,361...30,215,896
Ensembl chr18:29,987,206...30,215,897
JBrowse link
G Pcdha8 protocadherin alpha 8 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr18:29,999,290...30,215,896
Ensembl chr18:29,987,206...30,215,897
JBrowse link
G Pcdha9 protocadherin alpha 9 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr18:30,004,565...30,215,897
Ensembl chr18:29,987,206...30,215,897
JBrowse link
G Pcdhac1 protocadherin alpha subfamily C, 1 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr18:30,114,708...30,215,896
Ensembl chr18:29,987,206...30,215,897
JBrowse link
G Pcdhac2 protocadherin alpha subfamily C, 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr18:30,172,740...30,215,896
Ensembl chr18:29,987,206...30,215,897
JBrowse link
G Pgrmc2 progesterone receptor membrane component 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 2:127,986,106...128,002,005
Ensembl chr 2:127,986,109...128,002,005
JBrowse link
G Plau plasminogen activator, urokinase ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:28492532 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
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 7:120,380,543...120,392,214
Ensembl chr 7:120,380,544...120,390,954
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 chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:7581377 PMID:7647787 PMID:7704557 PMID:7881414 PMID:7904208 PMID:8001158 PMID:8084609 PMID:8114938 PMID:8114939 PMID:8114940 PMID:9090527 PMID:9502784 PMID:9506724 PMID:9700200 PMID:9727738 PMID:9760196 PMID:10022819 PMID:10090908 PMID:10521317 PMID:10528857 PMID:10646792 PMID:10790203 PMID:10922382 PMID:10980580 PMID:11230481 PMID:11436122 PMID:11589684 PMID:11732489 PMID:11953745 PMID:11955539 PMID:12000816 PMID:12016484 PMID:12086152 PMID:12205548 PMID:12214285 PMID:12566528 PMID:12628594 PMID:12702567 PMID:12872262 PMID:14566559 PMID:14602786 PMID:14627689 PMID:14633923 PMID:15320968 PMID:15472167 PMID:15531548 PMID:15531714 PMID:15741265 PMID:15753368 PMID:15829955 PMID:15834508 PMID:15870131 PMID:15933516 PMID:16091499 PMID:16118333 PMID:16388093 PMID:16424056 PMID:16441254 PMID:16649977 PMID:16705552 PMID:16928683 PMID:16986122 PMID:17009072 PMID:17021738 PMID:17102091 PMID:17344846 PMID:17483988 PMID:17610518 PMID:18058472 PMID:18062802 PMID:18252215 PMID:18280283 PMID:18284634 PMID:18322301 PMID:18772120 PMID:18805915 PMID:18976163 PMID:19269918 PMID:19572138 PMID:19826964 PMID:19853744 PMID:19906784 PMID:20039896 PMID:20080836 PMID:20473317 PMID:20516206 PMID:20532249 PMID:20598273 PMID:20801952 PMID:20956458 PMID:20981092 PMID:21311890 PMID:21349203 PMID:21479187 PMID:21490379 PMID:21551259 PMID:21655256 PMID:21810974 PMID:21986619 PMID:21995290 PMID:22068382 PMID:22111543 PMID:22174939 PMID:22395866 PMID:22517557 PMID:22584710 PMID:22648184 PMID:22676047 PMID:22703879 PMID:22729463 PMID:22837065 PMID:22995991 PMID:23059849 PMID:23067224 PMID:23084198 PMID:23461807 PMID:23527089 PMID:23723040 PMID:24033266 PMID:24055113 PMID:24336963 PMID:24375508 PMID:24429398 PMID:24651702 PMID:24728327 PMID:24755471 PMID:24897126 PMID:25256751 PMID:25425582 PMID:25637381 PMID:25741868 PMID:25950813 PMID:25985138 PMID:26206375 PMID:26332594 PMID:26395553 PMID:26467025 PMID:26489027 PMID:26580448 PMID:27153395 PMID:27379493 PMID:27600092 PMID:27798940 PMID:27884173 PMID:28492532 PMID:28946813 PMID:29263839 PMID:29642553 PMID:30306255 PMID:30644554 PMID:30927507 PMID:31510104 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link
G Sema3d semaphorin 3D ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 4:19,224,378...19,413,519
Ensembl chr 4:19,224,310...19,413,484
JBrowse link
G Serpinf1 serpin family F member 1 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:28492532 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar PMID:24357527 NCBI chr 7:120,393,238...120,403,523
Ensembl chr 7:120,393,254...120,403,523
JBrowse link
G Tbata thymus, brain and testes associated ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr20:30,786,239...30,804,354
Ensembl chr20:30,791,422...30,804,165
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 chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
JBrowse link
G Thbs4 thrombospondin 4 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 2:22,343,727...22,385,855
Ensembl chr 2:22,343,727...22,385,855
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 PMID:25741868 PMID:28492532 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
G Zhx2 zinc fingers and homeoboxes 2 ISO ClinVar Annotator: match by term: Hirschsprung disease 1 ClinVar NCBI chr 7:97,559,653...97,707,872
Ensembl chr 7:97,559,841...97,695,739
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 chr14:42,711,169...42,718,707
Ensembl chr14:42,714,315...42,717,010
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 OMIM:613870 OMIM
ClinVar
PMID:8530372 PMID:9915973 NCBI chr 5:156,215,469...156,318,652
Ensembl chr 5:156,215,417...156,318,671
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 4:154,309,426...154,359,138
Ensembl chr 4:154,309,426...154,359,137
JBrowse link
G Ache acetylcholinesterase ISO RGD PMID:21991983 RGD:5509847 NCBI chr12:22,472,358...22,477,052
Ensembl chr12:22,472,358...22,478,753
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 4:174,799,378...174,863,260
Ensembl chr 4:174,810,959...174,863,260
JBrowse link
G Arhgap22 Rho GTPase activating protein 22 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:9,454,269...9,613,508
Ensembl chr16:9,486,832...9,613,528
JBrowse link
G Asah2 N-acylsphingosine amidohydrolase 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 1:250,557,042...250,665,083
Ensembl chr 1:250,557,044...250,630,677
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 9:78,862,013...78,882,061
Ensembl chr 9:78,862,013...78,882,060
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 PMID:29641532 NCBI chr10:97,212,483...97,238,824
Ensembl chr10:97,212,432...97,239,642
JBrowse link
G Bmi1 BMI1 proto-oncogene, polycomb ring finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:29429387 NCBI chr17:85,360,439...85,370,283
Ensembl chr17:85,364,483...85,368,208
JBrowse link
G Cavin2 caveolae associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25792468 NCBI chr 9:55,244,136...55,256,153
Ensembl chr 9:55,243,255...55,256,340
JBrowse link
G Cd14 CD14 molecule IEP protein:increased expression:intestine: RGD PMID:15117676 RGD:7193054 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131
JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr18:407,517...414,110
Ensembl chr18:408,219...410,098
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Ctxnd1 cortexin domain containing 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 1:146,659,395...146,706,084 JBrowse link
G Dennd3 DENN domain containing 3 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 7:114,724,644...114,812,471
Ensembl chr 7:114,724,610...114,812,708
JBrowse link
G Depdc1 DEP domain containing 1 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 2:264,704,738...264,738,265
Ensembl chr 2:264,704,769...264,738,257
JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
JBrowse link
G Dppa5 developmental pluripotency associated 5 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 8:85,711,560...85,713,313
Ensembl chr 8:85,711,795...85,712,647
Ensembl chr 7:85,711,795...85,712,647
Ensembl chr 3:85,711,795...85,712,647
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 PMID:9439663 PMID:9470816 PMID:9686374 PMID:10071185 PMID:10657402 PMID:10803677 PMID:11156223 PMID:11350878 PMID:11555601 PMID:11895907 PMID:11953843 PMID:11988088 PMID:12209976 PMID:12360106 PMID:12912951 PMID:15017333 PMID:15858133 PMID:16151913 PMID:16361556 PMID:17000685 PMID:17064846 PMID:17121937 PMID:17165084 PMID:17203168 PMID:17335544 PMID:17700593 PMID:18299612 PMID:18443386 PMID:18600527 PMID:19104657 PMID:19473056 PMID:19795123 PMID:19858398 PMID:20385995 PMID:20507294 PMID:20530282 PMID:20803296 PMID:20809970 PMID:20819423 PMID:21410976 PMID:21498394 PMID:21723269 PMID:21919607 PMID:22339448 PMID:22992668 PMID:23328581 PMID:23335937 PMID:23481061 PMID:23585145 PMID:23603345 PMID:23736036 PMID:23930673 PMID:24167597 PMID:24590654 PMID:24647007 PMID:24648345 PMID:24700034 PMID:24817302 PMID:24923815 PMID:25381393 PMID:25410891 PMID:25590979 PMID:25677447 PMID:25741868 PMID:26099996 PMID:26216193 PMID:26265035 PMID:26467025 PMID:26603945 PMID:26794347 PMID:26804652 PMID:26846104 PMID:26967565 PMID:27454530 PMID:27738344 PMID:27864592 PMID:28295243 PMID:28481884 PMID:28929491 PMID:29065426 PMID:29134491 PMID:29152729 PMID:30348537 NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
JBrowse link
G Drgx dorsal root ganglia homeobox ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:8,823,872...8,853,430
Ensembl chr16:8,823,872...8,853,430
JBrowse link
G Dscam DS cell adhesion molecule ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr11:37,004,776...37,599,866
Ensembl chr11:37,004,902...37,253,776
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 5:156,215,469...156,318,652
Ensembl chr 5:156,215,417...156,318,671
JBrowse link
G Edn3 endothelin 3 susceptibility ISO DNA:point mutation:exon:A17T, A224T
ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: Hirschsprung Disease, Dominant
ClinVar Annotator: match by term: Hirschsprung disease
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:613712
ClinVar
OMIM
CTD
PMID:8630502 PMID:8630503 PMID:8696331 PMID:8896568 PMID:9359047 PMID:9587491 PMID:10231870 PMID:14633923 PMID:19556619 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27535533 PMID:28492532, PMID:9359047 RGD:1601003 NCBI chr 3:172,856,730...172,879,276
Ensembl chr 3:172,856,733...172,880,450
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
PMID:8001158 PMID:8852658 PMID:8852659 PMID:8852660 PMID:8896568 PMID:9359036 PMID:9760196 PMID:10090908 PMID:10458491 PMID:10664228 PMID:10874640 PMID:14633923 PMID:16145050 PMID:16944573 PMID:16954478 PMID:17011274 PMID:17223014 PMID:18162831 PMID:19320733 PMID:20009762 PMID:21507037 PMID:22993632 PMID:22995991 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27535533 PMID:27639823 PMID:28492532 PMID:29407415, PMID:8001158, PMID:22132166, PMID:21915282, PMID:9739043, PMID:8589685 RGD:1601008, RGD:6480215, RGD:6480217, RGD:628516, RGD:1342447 NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
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 PMID:12526770 RGD:734940 NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
JBrowse link
G Etfdh electron transfer flavoprotein dehydrogenase ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 2:178,367,547...178,389,641
Ensembl chr 2:178,367,549...178,389,608
JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Fam170b family with sequence similarity 170, member B ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:9,074,044...9,076,885
Ensembl chr16:9,074,033...9,076,865
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 ClinVar PMID:25741868 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Fhit fragile histidine triad diadenosine triphosphatase ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr15:15,697,292...16,862,873 JBrowse link
G Flg filaggrin ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 2:193,565,401...193,574,297 JBrowse link
G Fmn2 formin 2 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr13:92,569,256...92,887,302 JBrowse link
G Fn1 fibronectin 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
JBrowse link
G Frmpd2 FERM and PDZ domain containing 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:9,745,171...9,879,490 JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr18:401,878...407,954
Ensembl chr18:402,295...407,954
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 PMID:9497256 PMID:10790203 PMID:10917288 PMID:11565554 PMID:11823451 PMID:12640453 PMID:19184120 PMID:21206993 PMID:22729463 PMID:24033266 PMID:24997227 PMID:25741868 PMID:28492532 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
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
PMID:17507417 RGD:6218967 NCBI chr 1:279,203,046...279,572,789 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 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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 chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hdac8 histone deacetylase 8 ISO protein:decreased expression:colon (human) RGD PMID:16771768 RGD:13208819 NCBI chr  X:72,163,777...72,370,058
Ensembl chr  X:72,163,777...72,370,044
JBrowse link
G Hic2 HIC ZBTB transcriptional repressor 2 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr11:87,988,213...88,016,825
Ensembl chr11:87,988,213...88,016,825
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 9:82,208,223...82,214,440
Ensembl chr 9:82,208,223...82,214,440
JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr16:74,177,233...74,230,809
Ensembl chr16:74,177,215...74,230,815
JBrowse link
G Iqcf5 IQ motif containing F5 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 8:115,213,469...115,214,854
Ensembl chr 8:115,213,471...115,214,895
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 chr19:61,677,512...61,725,537
Ensembl chr19:61,677,542...61,725,535
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 chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
JBrowse link
G Klrg1 killer cell lectin like receptor G1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 4:155,038,936...155,051,449
Ensembl chr 4:155,039,628...155,051,429
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:21395909 RGD:6483043 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
G L3mbtl4 L3MBTL histone methyl-lysine binding protein 4 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 9:116,521,937...116,689,388 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 5:51,466,367...51,638,161 JBrowse link
G LOC680885 hypothetical protein LOC680885 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:8,553,711...8,564,380
Ensembl chr16:8,553,768...8,564,379
JBrowse link
G Lrrc18 leucine rich repeat containing 18 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:9,234,341...9,258,849
Ensembl chr16:9,235,888...9,258,538
JBrowse link
G Man2a2 mannosidase, alpha, class 2A, member 2 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 1:142,141,695...142,164,561
Ensembl chr 1:142,143,799...142,164,263
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:9,620,854...9,709,342
Ensembl chr16:9,625,177...9,709,347
JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr11:87,553,868...87,628,631
Ensembl chr11:87,553,868...87,628,502
JBrowse link
G Mir128-1 microRNA 128-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29429387 NCBI chr13:44,916,534...44,916,615
Ensembl chr13:44,916,534...44,916,615
JBrowse link
G Mir195 microRNA 195 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25007945 NCBI chr10:56,845,301...56,845,387
Ensembl chr10:56,845,301...56,845,387
JBrowse link
G Mir206 microRNA 206 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25792468 NCBI chr 9:26,791,764...26,791,847
Ensembl chr 9:26,791,764...26,791,847
JBrowse link
G Msmb microseminoprotein, beta ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:8,280,275...8,300,853
Ensembl chr16:8,280,275...8,300,852
JBrowse link
G Mtcp1 mature T-cell proliferation 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr18:411,159...411,934
Ensembl chr18:411,455...411,849
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:25741868 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
JBrowse link
G Ncoa4 nuclear receptor coactivator 4 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:8,302,950...8,323,294
Ensembl chr16:8,302,950...8,323,293
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 chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
JBrowse link
G Notch4 notch receptor 4 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr20:4,329,794...4,353,868
Ensembl chr20:4,329,811...4,353,785
JBrowse link
G Nrg1 neuregulin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22974608 NCBI chr16:62,969,573...64,065,063
Ensembl chr16:63,837,216...64,057,434
JBrowse link
G Nrg3 neuregulin 3 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:28492532 NCBI chr16:15,763,031...16,932,208
Ensembl chr16:15,764,632...15,798,974
JBrowse link
G Nrtn neurturin ISO RGD PMID:9700200 RGD:1600267 NCBI chr 9:10,299,881...10,306,599
Ensembl chr 9:10,305,470...10,306,597
JBrowse link
G Ntf3 neurotrophin 3 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 4:158,636,883...158,705,886
Ensembl chr 4:158,636,884...158,705,886
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO protein:altered expression:intestine RGD PMID:8943115 RGD:5684546 NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
JBrowse link
G Nup98 nucleoporin 98 and 96 precursor ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 1:167,213,866...167,308,851
Ensembl chr 1:167,213,866...167,308,851
JBrowse link
G Oas3 2'-5'-oligoadenylate synthetase 3 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr12:41,313,081...41,368,217
Ensembl chr12:41,316,764...41,336,562
JBrowse link
G Ogdhl oxoglutarate dehydrogenase L ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:8,497,495...8,523,552
Ensembl chr16:8,497,569...8,523,557
JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 1:220,515,117...220,645,611
Ensembl chr 1:220,516,316...220,644,636
JBrowse link
G Parg poly (ADP-ribose) glycohydrolase ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:8,350,168...8,457,999
Ensembl chr16:8,350,326...8,457,996
JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr20:14,952,213...15,334,745
Ensembl chr20:14,952,213...15,334,745
JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr20:12,943,523...13,038,615
Ensembl chr20:12,944,786...13,038,431
JBrowse link
G Phax phosphorylated adaptor for RNA export ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr18:51,662,294...51,678,981
Ensembl chr18:51,662,294...51,678,980
JBrowse link
G Phox2b paired-like homeobox 2b ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr14:42,711,169...42,718,707
Ensembl chr14:42,714,315...42,717,010
JBrowse link
G Phrf1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 1:214,215,673...214,248,906
Ensembl chr 1:214,215,992...214,248,901
JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:25741868 NCBI chr 5:58,461,055...58,470,699
Ensembl chr 5:58,461,759...58,469,399
JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 7:120,380,543...120,392,214
Ensembl chr 7:120,380,544...120,390,954
JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr12:23,998,411...24,017,063
Ensembl chr12:23,998,411...24,046,814
JBrowse link
G Ppid peptidylprolyl isomerase D ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 2:178,354,830...178,366,843
Ensembl chr 2:178,354,890...178,366,685
JBrowse link
G Prokr1 prokineticin receptor 1 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 4:119,375,790...119,386,551
Ensembl chr 4:119,375,778...119,386,590
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
PMID:7581377 PMID:7633441 PMID:7647787 PMID:7849720 PMID:7874109 PMID:7881414 PMID:8103403 PMID:8114938 PMID:8114939 PMID:8765374 PMID:8797874 PMID:8807338 PMID:8896568 PMID:8909322 PMID:8918855 PMID:9012462 PMID:9047383 PMID:9067749 PMID:9068588 PMID:9090527 PMID:9146685 PMID:9230192 PMID:9384613 PMID:9497256 PMID:9502784 PMID:9506724 PMID:9681852 PMID:9727738 PMID:9760196 PMID:9820617 PMID:9879991 PMID:10528857 PMID:10646792 PMID:10790203 PMID:10921886 PMID:10982477 PMID:11230481 PMID:11694544 PMID:11955539 PMID:12000816 PMID:12205548 PMID:12566528 PMID:12640453 PMID:12686527 PMID:12711285 PMID:14561794 PMID:14566559 PMID:14627689 PMID:14633923 PMID:14715928 PMID:15320968 PMID:15472167 PMID:15531714 PMID:15741265 PMID:15744028 PMID:15753368 PMID:15771139 PMID:15829955 PMID:15834508 PMID:15858153 PMID:15870131 PMID:16118333 PMID:16322339 PMID:16388093 PMID:16441254 PMID:16565500 PMID:16705552 PMID:16707008 PMID:16712668 PMID:16868135 PMID:16928683 PMID:16986122 PMID:17021738 PMID:17102091 PMID:17108762 PMID:17188172 PMID:17316110 PMID:17372903 PMID:17483988 PMID:17610518 PMID:17895320 PMID:18058472 PMID:18062802 PMID:18063059 PMID:18206480 PMID:18322301 PMID:19029228 PMID:19336503 PMID:19469690 PMID:19826964 PMID:19853744 PMID:19906784 PMID:20080836 PMID:20152359 PMID:20456320 PMID:20473317 PMID:20516206 PMID:20598273 PMID:20956458 PMID:20979234 PMID:20981092 PMID:21311890 PMID:21479187 PMID:21490379 PMID:21551259 PMID:21655256 PMID:21765987 PMID:21810974 PMID:21986619 PMID:21995290 PMID:22174939 PMID:22395866 PMID:22574178 PMID:22584710 PMID:22648184 PMID:22703879 PMID:22729463 PMID:22837065 PMID:22995991 PMID:23067224 PMID:23084198 PMID:23527089 PMID:23723040 PMID:23744765 PMID:24033266 PMID:24055113 PMID:24134185 PMID:24336963 PMID:24375508 PMID:24728327 PMID:24805091 PMID:25425582 PMID:25637381 PMID:25694125 PMID:25741868 PMID:25950813 PMID:26071011 PMID:26206375 PMID:26332594 PMID:26395553 PMID:26467025 PMID:26489027 PMID:26556299 PMID:27153395 PMID:27207748 PMID:27379493 PMID:27525386 PMID:27847096 PMID:27884173 PMID:28018431 PMID:28099363 PMID:28492532 PMID:28946813 PMID:29020875 PMID:29338689 PMID:30031151 PMID:30122538 PMID:30197081 PMID:30349395 PMID:30644554 PMID:31510104, PMID:24897126 RGD:12910713 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link
G RGD1560010 RGD1560010 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 2:178,389,986...178,393,118
Ensembl chr 2:178,389,799...178,393,113
JBrowse link
G RGD1564899 similar to chromosome 10 open reading frame 71 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:8,879,907...8,907,462
Ensembl chr16:8,881,138...8,885,797
JBrowse link
G Rxfp1 relaxin family peptide receptor 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 2:178,402,411...178,520,213
Ensembl chr 2:178,399,274...178,521,038
JBrowse link
G Sema3d semaphorin 3D ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:19,224,378...19,413,519
Ensembl chr 4:19,224,310...19,413,484
JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 1:250,692,448...250,951,685
Ensembl chr 1:250,691,370...250,951,697
JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:20972907 RGD:12801434 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:8,682,668...8,685,529
Ensembl chr16:8,682,669...8,685,529
JBrowse link
G Slc22a1 solute carrier family 22 member 1 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 1:48,273,639...48,300,645
Ensembl chr 1:48,273,611...48,300,655
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:10975929 RGD:12879497 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link
G Slc8a1 solute carrier family 8 member A1 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr 6:4,244,076...4,564,262
Ensembl chr 6:4,258,991...4,520,604
JBrowse link
G Snf8 SNF8 subunit of ESCRT-II ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr10:83,856,331...83,868,621
Ensembl chr10:83,856,280...83,868,598
JBrowse link
G Sox10 SRY-box transcription factor 10 ISO DNA:frameshift:cds:
ClinVar Annotator: match by term: Hirschsprung disease
ClinVar PMID:9560246 RGD:12802335 NCBI chr 7:120,393,238...120,403,523
Ensembl chr 7:120,393,254...120,403,523
JBrowse link
G Stx1a syntaxin 1A ISO RGD PMID:11345516 RGD:1581432 NCBI chr12:24,682,050...24,710,002
Ensembl chr12:24,682,041...24,710,019
JBrowse link
G Tbata thymus, brain and testes associated ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr20:30,786,239...30,804,354
Ensembl chr20:30,791,422...30,804,165
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 chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
JBrowse link
G Timm23 translocase of inner mitochondrial membrane 23 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:8,324,038...8,350,067
Ensembl chr16:8,324,036...8,350,067
JBrowse link
G Tmem165 transmembrane protein 165 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr14:34,503,037...34,528,262
Ensembl chr14:34,503,038...34,528,262
JBrowse link
G Tmem273 transmembrane protein 273 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:9,023,387...9,054,664
Ensembl chr16:9,023,387...9,054,664
JBrowse link
G Utp25 UTP25, small subunit processor component ISO CTD Direct Evidence: marker/mechanism CTD PMID:25007945 NCBI chr13:111,828,052...111,849,654
Ensembl chr13:111,828,043...111,849,653
JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar PMID:24033266 PMID:25741868 NCBI chr15:3,455,211...3,544,738
Ensembl chr15:3,455,211...3,544,702
JBrowse link
G Vstm4 V-set and transmembrane domain containing 4 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:9,088,142...9,172,855
Ensembl chr16:9,092,302...9,172,888
JBrowse link
G Wdfy4 WDFY family member 4 ISO ClinVar Annotator: match by term: Aganglionic megacolon ClinVar PMID:21681106 NCBI chr16:9,194,446...9,430,764
Ensembl chr16:9,194,424...9,430,743
JBrowse link
G Wnt8b Wnt family member 8B ISO RGD PMID:20972907 RGD:12801434 NCBI chr 1:264,244,150...264,266,136
Ensembl chr 1:264,260,505...264,264,302
JBrowse link
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr10:63,884,338...63,921,709
Ensembl chr10:63,884,338...63,921,709
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 PMID:11279515 RGD:1599885 NCBI chr 3:29,857,289...29,985,932
Ensembl chr 3:29,862,473...29,996,865
JBrowse link
G Zfp592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Hirschsprung disease ClinVar NCBI chr 1:142,833,999...142,870,997
Ensembl chr 1:142,834,157...142,870,995
JBrowse link
imperforate anus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Imperforate anus ClinVar PMID:25741868 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:236,031,988...236,313,858
Ensembl chr 1:236,031,988...236,313,858
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 2:51,673,480...51,747,533
Ensembl chr 2:51,672,722...51,750,369
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISS MouseDO NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
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
ClinVar Annotator: match by OMIM:147750
OMIM
ClinVar
PMID:17256792 PMID:25741868 NCBI chr 3:165,520,155...165,538,176
Ensembl chr 3:165,520,392...165,537,940
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 PMID:28492532 NCBI chr 3:112,800,557...112,910,038
Ensembl chr 3:112,800,557...112,876,773
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 PMID:25741868 PMID:26264437 PMID:27523286 PMID:28492532 NCBI chr20:32,709,282...32,764,040
Ensembl chr20:32,717,564...32,764,035
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 3:28,626,987...29,236,225
Ensembl chr 3:28,627,084...29,236,219
JBrowse link
G Gtdc1 glycosyltransferase-like domain containing 1 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar PMID:12920073 NCBI chr 3:29,410,426...29,705,981
Ensembl chr 3:29,410,426...29,705,985
JBrowse link
G Hnmt histamine N-methyltransferase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:905,111...937,038
Ensembl chr 3:904,765...937,102
JBrowse link
G Kynu kynureninase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:28,416,926...28,566,939
Ensembl chr 3:28,416,954...28,566,928
JBrowse link
G Lrp1b LDL receptor related protein 1B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:25,201,194...27,348,126 JBrowse link
G Nxph2 neurexophilin 2 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:67,027...309,536
Ensembl chr 3:307,204...307,980
JBrowse link
G Spopl speckle type BTB/POZ protein like ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:397,834...471,651
Ensembl chr 3:401,429...471,634
JBrowse link
G Thsd7b thrombospondin type 1 domain containing 7B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr13:46,026,943...46,931,619
Ensembl chr13:46,169,963...46,930,858
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:9719364 PMID:11279515 PMID:11448942 PMID:11592033 PMID:11595972 PMID:11891681 PMID:12784289 PMID:12920073 PMID:15006694 PMID:15121779 PMID:15908750 PMID:16053902 PMID:16088920 PMID:16532472 PMID:16688751 PMID:17103451 PMID:17203459 PMID:17478475 PMID:17932455 PMID:17958891 PMID:18182442 PMID:18414213 PMID:19006215 PMID:19215041 PMID:19842203 PMID:20428734 PMID:23243526 PMID:23418865 PMID:23466526 PMID:23523603 PMID:24401652 PMID:24715670 PMID:25326635 PMID:25326637 PMID:25608121 PMID:25741868 PMID:25931334 PMID:26467025 PMID:26633542 PMID:26809768 PMID:26993267 PMID:27831545 PMID:28492532 PMID:28501473 PMID:28708303 PMID:29089047 PMID:32860008 NCBI chr 3:29,857,289...29,985,932
Ensembl chr 3:29,862,473...29,996,865
JBrowse link
G Zeb2-as1 ZEB2 antisense RNA 1 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar PMID:12920073 NCBI chr 3:29,994,753...29,997,626 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:25741868 PMID:28492532 NCBI chr 6:10,887,303...10,899,221
Ensembl chr 6:10,887,288...10,899,200
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:23423984 PMID:23830146 PMID:24292712 PMID:24417819 PMID:24448499 PMID:25174867 PMID:25326635 PMID:25534311 PMID:25587526 PMID:25741868 PMID:26938784 PMID:27418642 PMID:28492532 PMID:28808844 PMID:28930861 PMID:28936210 PMID:29174094 PMID:30443250 PMID:31814065 NCBI chr 6:10,912,383...11,014,279
Ensembl chr 6:10,912,383...11,014,278
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 7:91,511,755...91,538,673
Ensembl chr 7:91,511,756...91,538,673
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 chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
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 PMID:12447940 PMID:15004559 PMID:17855451 PMID:17999358 PMID:19764030 PMID:20127975 PMID:22008330 PMID:24033266 PMID:25741868 PMID:25991456 PMID:26467025 PMID:27240497 PMID:28492532 NCBI chr 7:120,380,543...120,392,214
Ensembl chr 7:120,380,544...120,390,954
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
PMID:1636383 PMID:9462749 PMID:10482261 PMID:10762540 PMID:11026454 PMID:12447940 PMID:15004559 PMID:17855451 PMID:17999358 PMID:19764030 PMID:20127975 PMID:22008330 PMID:24033266 PMID:25741868 PMID:25991456 PMID:26467025 PMID:27240497 PMID:28492532, PMID:25959061 RGD:12802339 NCBI chr 7:120,393,238...120,403,523
Ensembl chr 7:120,393,254...120,403,523
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 4:718,538...727,691
Ensembl chr 4:718,538...727,691
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:26197979 PMID:26820108 PMID:28407396 NCBI chr13:108,132,499...108,178,609
Ensembl chr13:108,132,499...108,178,609
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 6:95,816,749...95,821,729
Ensembl chr 6:95,816,749...95,821,729
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 PMID:16145681 PMID:16283891 PMID:16470798 PMID:16543359 PMID:16892407 PMID:16932809 PMID:17219395 PMID:17522144 PMID:18285410 PMID:18385377 PMID:18831064 PMID:19254784 PMID:19921648 PMID:20803647 PMID:21326281 PMID:22171155 PMID:23701296 PMID:24804704 PMID:25542770 PMID:25741868 PMID:26250054 PMID:27206652 PMID:28492532 NCBI chr 2:121,165,137...121,167,545
Ensembl chr 2:121,165,137...121,167,545
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 PMID:16944573 PMID:18162831 PMID:25741868, PMID:21915282, PMID:22132166 RGD:6480217, RGD:6480215 NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
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 6:93,740,440...93,751,003
Ensembl chr 6:93,740,586...93,749,809
JBrowse link
G Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: Townes-Brocks syndrome 1
ClinVar Annotator: match by term: Townes syndrome
ClinVar Annotator: match by OMIM:107480
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8133838 PMID:9425907 PMID:9973281 PMID:10533063 PMID:10819639 PMID:10928856 PMID:11102974 PMID:11478532 PMID:11484202 PMID:14627694 PMID:14755477 PMID:16088922 PMID:16429401 PMID:17221874 PMID:17431915 PMID:18000979 PMID:19005989 PMID:22308078 PMID:23069192 PMID:24429398 PMID:25741868 PMID:26380986 PMID:26467025 PMID:27657687 PMID:28492532 PMID:29395072 NCBI chr19:23,387,737...23,405,025
Ensembl chr19:23,389,375...23,405,039
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 6:93,740,440...93,751,003
Ensembl chr 6:93,740,586...93,749,809
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 chr19:23,387,737...23,405,025
Ensembl chr19:23,389,375...23,405,039
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 5:159,735,008...159,735,956
Ensembl chr 5:159,734,838...159,742,774
JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr 8:5,217,054...5,436,969
Ensembl chr 8:5,217,217...5,429,581
JBrowse link
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:25754594 NCBI chr14:110,675,306...110,740,880
Ensembl chr14:110,676,090...110,740,317
JBrowse link
G Fn1 fibronectin 1 IEP protein:increased expression:embryo RGD PMID:14986037 RGD:7205466 NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
JBrowse link
G Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:2629409 PMID:26294094 NCBI chr19:53,012,306...53,016,100
Ensembl chr19:53,012,332...53,016,086
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 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
JBrowse link
G Ift172 intraflagellar transport 172 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr 6:26,390,686...26,485,459 JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:25741868 NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:p.C470R(mouse)
CTD PMID:18519639, PMID:18519639 RGD:11556208 NCBI chr 1:236,031,988...236,313,858
Ensembl chr 1:236,031,988...236,313,858
JBrowse link
G Qsox1 quiescin sulfhydryl oxidase 1 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr13:73,423,396...73,460,890
Ensembl chr13:73,423,397...73,460,935
JBrowse link
G Shh sonic hedgehog signaling molecule IEP RGD PMID:12632369 RGD:12801426 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr20:37,463,879...37,701,268
Ensembl chr20:37,465,278...37,700,937
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 chr10:549,537...672,235
Ensembl chr10:549,883...672,196
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 1:101,954,786...102,013,252
Ensembl chr 1:101,959,540...102,013,243
JBrowse link
G Abhd11 abhydrolase domain containing 11 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:24,722,277...24,725,760
Ensembl chr12:24,722,283...24,724,997
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 chr12:24,721,190...24,722,177 JBrowse link
G Adnp2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:76,637,415...76,661,186
Ensembl chr18:76,637,785...76,653,056
JBrowse link
G Atp9b ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:77,343,551...77,535,608
Ensembl chr18:77,343,551...77,535,593
JBrowse link
G Baz1b bromodomain adjacent to zinc finger domain, 1B ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:24,478,882...24,536,851
Ensembl chr12:24,478,898...24,537,313
JBrowse link
G Bcl7b BAF chromatin remodeling complex subunit BCL7B ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:24,543,748...24,557,093
Ensembl chr12:24,543,759...24,556,976
JBrowse link
G Bmerb1 bMERB domain containing 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr10:3,411,380...3,570,689
Ensembl chr10:3,411,380...3,570,688
JBrowse link
G Bud23 BUD23, rRNA methyltransferase and ribosome maturation factor ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:24,669,626...24,680,833
Ensembl chr12:24,669,449...24,680,818
JBrowse link
G Cbln2 cerebellin 2 precursor ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:83,775,568...83,783,841
Ensembl chr18:83,777,665...83,782,930
JBrowse link
G Cd226 CD226 molecule ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:86,299,392...86,394,772
Ensembl chr18:86,299,463...86,394,765
JBrowse link
G Cep20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr10:730,215...751,061
Ensembl chr10:730,247...751,061
JBrowse link
G Cldn3 claudin 3 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,831,341...21,832,813
Ensembl chr12:21,831,342...21,832,813
JBrowse link
G Cldn4 claudin 4 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:24,761,210...24,763,008
Ensembl chr12:24,761,210...24,763,005
JBrowse link
G Clip2 CAP-GLY domain containing linker protein 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:25,172,957...25,236,935
Ensembl chr12:25,173,005...25,237,009
JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:81,466,717...81,512,841
Ensembl chr18:81,466,716...81,499,051
JBrowse link
G Cndp2 carnosine dipeptidase 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:81,521,966...81,539,065
Ensembl chr18:81,521,968...81,539,065
JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:76,922,913...76,985,095
Ensembl chr18:76,922,934...76,984,203
JBrowse link
G Cyb5a cytochrome b5 type A ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:81,694,818...81,726,821
Ensembl chr18:81,694,808...81,726,821
JBrowse link
G Dipk1c divergent protein kinase domain 1C ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:81,569,693...81,591,683
Ensembl chr18:81,569,910...81,590,887
JBrowse link
G Dmrtc1a DMRT-like family C1a ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr  X:72,624,660...72,654,258 JBrowse link
G Dmrtc1c1 DMRT-like family C1c1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr  X:72,684,315...72,691,535
Ensembl chr  X:72,684,329...72,691,535
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 chr12:24,668,398...24,669,464
Ensembl chr12:24,668,398...24,669,464
JBrowse link
G Dok6 docking protein 6 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:86,420,361...86,878,142
Ensembl chr18:86,420,361...86,878,142
JBrowse link
G Dsel dermatan sulfate epimerase-like ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr13:1,942,384...1,948,563
Ensembl chr13:1,942,499...1,946,508
JBrowse link
G Eif4h eukaryotic translation initiation factor 4H ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:25,093,119...25,109,805
Ensembl chr12:25,093,149...25,109,799
JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Fbxo15 F-box protein 15 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:81,785,408...81,882,796
Ensembl chr18:81,821,127...81,882,796
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 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Fkbp6 FKBP prolyl isomerase family member 6 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:24,365,941...24,438,088
Ensembl chr12:24,367,199...24,438,019
JBrowse link
G Fzd9 frizzled class receptor 9 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:24,473,981...24,476,295
Ensembl chr12:24,473,981...24,476,295
JBrowse link
G Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 6:24,770,308...24,985,711
Ensembl chr 6:24,770,317...24,985,716
JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:79,243,009...79,258,570
Ensembl chr18:79,243,009...79,258,570
JBrowse link
G Gtf2i general transcription factor II I ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:25,410,804...25,487,970
Ensembl chr12:25,411,207...25,488,156
JBrowse link
G Gtf2ird1 GTF2I repeat domain containing 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:25,264,052...25,370,947
Ensembl chr12:25,264,192...25,371,001
JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr  X:72,163,777...72,370,058
Ensembl chr  X:72,163,777...72,370,044
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 chr18:76,748,067...76,754,642
Ensembl chr18:76,748,067...76,753,902
JBrowse link
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:76,808,294...76,880,742
Ensembl chr18:76,809,144...76,878,981
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 chr12:25,114,099...25,128,381
Ensembl chr12:25,119,355...25,125,749
JBrowse link
G Limk1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:25,036,630...25,070,538
Ensembl chr12:25,036,605...25,070,539
JBrowse link
G LOC100359752 hypothetical protein LOC100359752 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:81,644,346...81,683,983
Ensembl chr18:81,644,858...81,682,206
JBrowse link
G Marf1 meiosis regulator and mRNA stability factor 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr10:908,806...953,481
Ensembl chr10:908,806...953,474
JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:79,326,738...79,437,310
Ensembl chr18:79,326,738...79,437,310
JBrowse link
G Mettl27 methyltransferase like 27 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:24,767,351...24,775,891
Ensembl chr12:24,767,351...24,775,891
JBrowse link
G Mlxipl MLX interacting protein-like ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:24,590,645...24,619,639 JBrowse link
G Mpv17l MPV17 mitochondrial inner membrane protein like ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr10:3,321,488...3,359,219
Ensembl chr10:3,321,476...3,357,470
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr10:860,513...904,624
Ensembl chr10:860,521...896,938
JBrowse link
G Neto1 neuropilin and tolloid like 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:83,471,342...83,585,043
Ensembl chr18:83,471,342...83,584,357
JBrowse link
G Nfatc1 nuclear factor of activated T-cells 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:77,203,517...77,322,690
Ensembl chr18:77,203,525...77,322,690
JBrowse link
G Nsun5 NOP2/Sun RNA methyltransferase 5 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:24,341,940...24,346,900
Ensembl chr12:24,341,928...24,346,918
JBrowse link
G Pard6g par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:76,559,877...76,627,843
Ensembl chr18:76,559,811...76,628,041
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:72,377,020...72,515,385
Ensembl chr  X:72,377,021...72,515,366
JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:76,704,223...76,714,387
Ensembl chr18:76,704,220...76,714,486
JBrowse link
G Rfc2 replication factor C subunit 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:25,130,375...25,143,480
Ensembl chr12:25,130,377...25,143,480
JBrowse link
G Rttn rotatin ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:86,071,884...86,247,486
Ensembl chr18:86,071,662...86,247,486
JBrowse link
G Sall3 spalt-like transcription factor 3 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:77,572,200...77,591,710
Ensembl chr18:77,573,702...77,579,969
JBrowse link
G Slc66a2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:76,768,466...76,805,773
Ensembl chr18:76,770,012...76,805,766
JBrowse link
G Socs6 suppressor of cytokine signaling 6 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:85,962,729...85,981,125
Ensembl chr18:85,962,729...85,980,833
JBrowse link
G Stx1a syntaxin 1A ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:24,682,050...24,710,002
Ensembl chr12:24,682,041...24,710,019
JBrowse link
G Tbl2 transducin (beta)-like 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:24,565,843...24,578,855
Ensembl chr12:24,565,849...24,578,786
JBrowse link
G Timm21 translocase of inner mitochondrial membrane 21 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:81,803,165...81,807,627
Ensembl chr18:81,803,173...81,807,627
JBrowse link
G Tmem270 transmembrane protein 270 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:24,803,204...24,808,287
Ensembl chr12:24,803,686...24,808,288
JBrowse link
G Tmx3 thioredoxin-related transmembrane protein 3 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:87,580,227...87,613,481
Ensembl chr18:87,580,424...87,610,390
JBrowse link
G Trim50 tripartite motif-containing 50 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:24,348,426...24,365,467
Ensembl chr12:24,348,321...24,365,324
JBrowse link
G Tshz1 teashirt zinc finger homeobox 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:80,860,995...80,907,744
Ensembl chr18:80,862,372...80,865,584
JBrowse link
G Txnl4a thioredoxin-like 4A ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:76,725,221...76,740,673
Ensembl chr18:76,725,247...76,740,688
JBrowse link
G Vps37d VPS37D subunit of ESCRT-I ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:24,651,342...24,656,793
Ensembl chr12:24,651,314...24,656,793
JBrowse link
G Zadh2 zinc binding alcohol dehydrogenase, domain containing 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:80,939,875...80,949,226
Ensembl chr18:80,939,875...80,949,226
JBrowse link
G Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:79,447,384...79,543,271
Ensembl chr18:79,451,204...79,543,219
JBrowse link
G Zfp407 zinc finger protein 407 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:81,057,507...81,453,682
Ensembl chr18:81,057,519...81,428,971
JBrowse link
G Zfp516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:79,768,387...79,857,909
Ensembl chr18:79,773,608...79,854,192
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 3:172,856,730...172,879,276
Ensembl chr 3:172,856,733...172,880,450
JBrowse link
G Ednrb endothelin receptor type B IAGP
ISO
ClinVar Annotator: match by term: Hirschsprung disease with pigmentary anomaly ClinVar PMID:8001158 PMID:8852659 PMID:8852660 PMID:10090908 PMID:10458491 PMID:10664228 PMID:10874640 PMID:14633923 PMID:16145050 PMID:16954478 PMID:17011274 PMID:18162831 PMID:19320733 PMID:20009762 PMID:21507037 PMID:22993632 PMID:22995991 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27535533 PMID:28492532 PMID:29407415, PMID:21915282 RGD:6480217 NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
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 7:120,393,238...120,403,523
Ensembl chr 7:120,393,254...120,403,523
JBrowse link
Waardenburg syndrome type 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4A
ClinVar Annotator: match by OMIM:277580
OMIM
ClinVar
PMID:7778600 PMID:8001158 PMID:8634719 PMID:8852659 PMID:8852660 PMID:10090908 PMID:10458491 PMID:10528251 PMID:10664228 PMID:10874640 PMID:11891690 PMID:14633923 PMID:16145050 PMID:16954478 PMID:17011274 PMID:18162831 PMID:19320733 PMID:20009762 PMID:21507037 PMID:22993632 PMID:22995991 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27535533 PMID:28492532 PMID:29407415 NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4A ClinVar PMID:25741868 NCBI chr 7:120,380,543...120,392,214
Ensembl chr 7:120,380,544...120,390,954
JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4A ClinVar PMID:25741868 NCBI chr 7:120,393,238...120,403,523
Ensembl chr 7:120,393,254...120,403,523
JBrowse link
Waardenburg syndrome type 4B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edn3 endothelin 3 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4B
ClinVar Annotator: match by OMIM:613265
OMIM
ClinVar
PMID:8630503 PMID:8696331 PMID:9359047 PMID:9587491 PMID:11303518 PMID:19556619 PMID:19764030 PMID:20583152 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:172,856,730...172,879,276
Ensembl chr 3:172,856,733...172,880,450
JBrowse link
Waardenburg syndrome type 4C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Waardenburg syndrome, type 4c
ClinVar Annotator: match by term: Waardenburg syndrome type 4C
ClinVar PMID:9462749 PMID:10077527 PMID:18348274 PMID:24033266 PMID:25741868 PMID:25991456 NCBI chr 7:120,380,543...120,392,214
Ensembl chr 7:120,380,544...120,390,954
JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4C
ClinVar Annotator: match by OMIM:613266
OMIM
ClinVar
PMID:9462749 PMID:10077527 PMID:18348274 PMID:24033266 PMID:25741868 PMID:25991456 NCBI chr 7:120,393,238...120,403,523
Ensembl chr 7:120,393,254...120,403,523
JBrowse link
X-linked VACTERL association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Baz1a bromodomain adjacent to zinc finger domain, 1A ISO ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations ClinVar NCBI chr 6:75,793,223...75,873,854
Ensembl chr 6:75,793,960...75,874,235
JBrowse link
G Fancb FA complementation group B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL-H
CTD
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr  X:31,124,018...31,140,790
Ensembl chr  X:31,124,018...31,140,711
JBrowse link
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked ClinVar PMID:25754594 NCBI chr14:110,675,306...110,740,880
Ensembl chr14:110,676,090...110,740,317
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL-H
ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly
CTD
ClinVar
PMID:9399897 PMID:9467011 PMID:10232405 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10749983 PMID:10848731 PMID:11685670 PMID:11748304 PMID:14518070 PMID:17392703 PMID:17942903 PMID:21828076 PMID:21956414 PMID:22381246 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23695273 PMID:24033266 PMID:24052722 PMID:24778394 PMID:25157968 PMID:25326635 PMID:25669429 PMID:25741868 PMID:25756585 PMID:27477328 PMID:27535533 PMID:27959697 PMID:28492532 PMID:28526761 PMID:30287823 PMID:32238909 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:25741868 NCBI chr19:23,387,737...23,405,025
Ensembl chr19:23,389,375...23,405,039
JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked
ClinVar Annotator: match by OMIM:314390
OMIM
ClinVar
PMID:2629409 PMID:14681828 PMID:17764085 PMID:23427188 PMID:24033266 PMID:24123890 PMID:25741868 PMID:26294094 PMID:28492532 NCBI chr  X:140,875,191...140,888,344
Ensembl chr  X:140,878,216...140,888,795
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      gastrointestinal system disease 4694
        Digestive System Abnormalities 469
          Absent Duct of Santorini 0
          Acrorenal Mandibular Syndrome 0
          Acrorenal Syndrome Recessive 0
          Anorectal Malformations + 48
          Barrett's esophagus + 33
          Craniosynostosis, Anal Anomalies, and Porokeratosis 0
          Currarino syndrome 56
          Hirschsprung's disease + 224
          Meckel's diverticulum 0
          Pancreaticobiliary Maljunction 0
          Volvulus Of Midgut 73
          biliary atresia + 17
          choledochal cyst + 8
          diaphragmatic eventration + 1
          esophageal atresia + 38
          intestinal atresia + 10
Path 2
Term Annotations click to browse term
  disease 16122
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        Congenital Abnormalities 4762
          Digestive System Abnormalities 469
            Absent Duct of Santorini 0
            Acrorenal Mandibular Syndrome 0
            Acrorenal Syndrome Recessive 0
            Anorectal Malformations + 48
            Barrett's esophagus + 33
            Craniosynostosis, Anal Anomalies, and Porokeratosis 0
            Currarino syndrome 56
            Hirschsprung's disease + 224
            Meckel's diverticulum 0
            Pancreaticobiliary Maljunction 0
            Volvulus Of Midgut 73
            biliary atresia + 17
            choledochal cyst + 8
            diaphragmatic eventration + 1
            esophageal atresia + 38
            intestinal atresia + 10
paths to the root