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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:Torsion Abnormality
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Accession:DOID:9000314 term browser browse the term
Definition:An abnormal twisting or rotation of a bodily part or member on its axis.
Synonyms:exact_synonym: Torsion Abnormalities
 primary_id: MESH:D014102;   RDO:0006725


show annotations for term's descendants           Sort by:
camptodactyly-arthropathy-coxa vara-pericarditis syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prg4 proteoglycan 4 ISO ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10545950 PMID:25741868 PMID:29397575 PMID:32860008 NCBI chr13:62,487,257...62,504,657
Ensembl chr13:62,487,257...62,504,119 		JBrowse link
G Tpr translocated promoter region, nuclear basket protein ISO ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome ClinVar PMID:25741868 PMID:29397575 NCBI chr13:62,424,312...62,487,502
Ensembl chr13:62,424,312...62,487,496 		JBrowse link
intestinal volvulus term browser
Symbol Object Name 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: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114 		JBrowse link
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464 		JBrowse link
G Abhd11 abhydrolase domain containing 11 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,682,206...21,685,331
Ensembl chr12:21,682,202...21,685,398 		JBrowse link
G Abhd11-as1 ABHD11 antisense RNA 1 (tail to tail) ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,681,118...21,682,106 JBrowse link
G Adnp2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:73,571,870...73,597,088
Ensembl chr18:73,571,936...73,628,484 		JBrowse link
G Atp9b ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:74,176,863...74,368,993
Ensembl chr18:74,176,863...74,368,953 		JBrowse link
G Baz1b bromodomain adjacent to zinc finger domain, 1B ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,431,985...21,489,956
Ensembl chr12:21,431,985...21,490,426 		JBrowse link
G Bcl7b BAF chromatin remodeling complex subunit BCL7B ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,496,860...21,510,079
Ensembl chr12:21,496,856...21,510,202 		JBrowse link
G Bmerb1 bMERB domain containing 1 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr10:1,779,834...1,946,586
Ensembl chr10:1,779,835...1,946,575 		JBrowse link
G Bud23 BUD23, rRNA methyltransferase and ribosome maturation factor ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,629,551...21,640,758
Ensembl chr12:21,629,536...21,640,751 		JBrowse link
G C18h18orf63 similar to human chromosome 18 open reading frame 63 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:78,159,334...78,202,317
Ensembl chr18:78,164,661...78,202,326 		JBrowse link
G Cbln2 cerebellin 2 precursor ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:79,940,412...79,948,766
Ensembl chr18:79,942,590...79,947,855 		JBrowse link
G Cd226 CD226 molecule ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:82,449,924...82,545,107
Ensembl chr18:82,450,568...82,543,051 		JBrowse link
G Cep20 centrosomal protein 20 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr10:714,051...736,826
Ensembl chr10:714,151...736,837 		JBrowse link
G Cldn3 claudin 3 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,708,538...21,710,010
Ensembl chr12:21,708,398...21,711,001 		JBrowse link
G Cldn4 claudin 4 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,751,638...21,753,436
Ensembl chr12:21,751,331...21,753,436 		JBrowse link
G Clip2 CAP-GLY domain containing linker protein 2 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:22,163,044...22,227,023
Ensembl chr12:22,163,218...22,227,023 		JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:77,984,886...78,030,837
Ensembl chr18:77,984,907...78,007,765 		JBrowse link
G Cndp2 carnosine dipeptidase 2 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:78,039,924...78,057,030
Ensembl chr18:78,039,932...78,056,922 		JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:73,854,277...73,916,232
Ensembl chr18:73,854,282...73,916,457 		JBrowse link
G Cyb5a cytochrome b5 type A ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:78,213,067...78,245,677
Ensembl chr18:78,202,342...78,258,535
Ensembl chr18:78,202,342...78,258,535 		JBrowse link
G Dipk1c divergent protein kinase domain 1C ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:78,087,972...78,109,910
Ensembl chr18:78,087,991...78,109,904 		JBrowse link
G Dmrtc1a DMRT-like family C1a ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr  X:67,822,187...67,852,572
Ensembl chr  X:67,822,113...67,852,571 		JBrowse link
G Dmrtc1c1 DMRT-like family C1c1 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr  X:67,896,973...67,904,182
Ensembl chr  X:67,896,974...67,904,182 		JBrowse link
G Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,628,319...21,629,398
Ensembl chr12:21,626,450...21,629,408 		JBrowse link
G Dok6 docking protein 6 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:82,572,762...83,015,951
Ensembl chr18:82,572,762...83,015,951 		JBrowse link
G Dsel dermatan sulfate epimerase-like ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr13:186,413...192,592
Ensembl chr13:175,805...192,647 		JBrowse link
G Eif4h eukaryotic translation initiation factor 4H ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:22,083,155...22,099,876
Ensembl chr12:22,082,835...22,099,876 		JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Fbxo15 F-box protein 15 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:78,319,577...78,634,695
Ensembl chr18:78,319,534...78,390,765 		JBrowse link
G Fkbp6 FKBP prolyl isomerase family member 6 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,318,251...21,390,350
Ensembl chr12:21,319,568...21,390,350 		JBrowse link
G Fzd9 frizzled class receptor 9 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,427,084...21,429,398
Ensembl chr12:21,427,084...21,429,398 		JBrowse link
G Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr 6:21,756,039...21,977,533
Ensembl chr 6:21,755,195...21,972,192 		JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:75,772,021...75,787,577
Ensembl chr18:75,772,023...75,787,577 		JBrowse link
G Gtf2i general transcription factor II I ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:22,400,933...22,476,243
Ensembl chr12:22,401,431...22,476,243 		JBrowse link
G Gtf2ird1 GTF2I repeat domain containing 1 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:22,254,113...22,361,052
Ensembl chr12:22,254,221...22,361,040 		JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr  X:67,385,288...67,593,014
Ensembl chr  X:67,385,289...67,592,923 		JBrowse link
G Hsbp1l1 heat shock factor binding protein 1-like 1 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:73,682,286...73,690,061
Ensembl chr18:73,682,286...73,688,045 		JBrowse link
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:73,742,224...73,810,420
Ensembl chr18:73,743,074...73,808,723 		JBrowse link
G Lat2 linker for activation of T cells family, member 2 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:22,104,173...22,118,294
Ensembl chr12:22,104,219...22,118,288 		JBrowse link
G Limk1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:22,026,697...22,060,605
Ensembl chr12:22,026,672...22,060,606 		JBrowse link
G Marf1 meiosis regulator and mRNA stability factor 1 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr10:888,053...932,760
Ensembl chr10:888,076...932,753 		JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404 		JBrowse link
G Mettl27 methyltransferase like 27 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,757,545...21,766,698
Ensembl chr12:21,757,329...21,766,685 		JBrowse link
G Mlxipl MLX interacting protein-like ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112 		JBrowse link
G Mpv17l MPV17 mitochondrial inner membrane protein like ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr10:1,988,451...2,025,300
Ensembl chr10:1,988,136...2,007,649 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869 		JBrowse link
G Neto1 neuropilin and tolloid like 1 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:79,635,633...79,753,913
Ensembl chr18:79,635,633...79,749,030 		JBrowse link
G Nfatc1 nuclear factor of activated T-cells 1 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:74,046,422...74,156,041
Ensembl chr18:74,046,904...74,156,028 		JBrowse link
G Nsun5 NOP2/Sun RNA methyltransferase 5 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,293,637...21,299,319
Ensembl chr12:21,293,645...21,299,272 		JBrowse link
G Pard6g par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:73,497,992...73,565,048
Ensembl chr18:73,498,021...73,565,029 		JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr  X:67,601,302...67,738,504
Ensembl chr  X:67,601,302...67,738,455 		JBrowse link
G Ptgr3 prostaglandin reductase 3 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:77,454,435...77,463,785
Ensembl chr18:77,454,435...77,463,785 		JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:73,639,264...73,648,914
Ensembl chr18:73,639,260...73,648,915 		JBrowse link
G Rfc2 replication factor C subunit 2 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:22,120,449...22,133,576
Ensembl chr12:22,120,010...22,133,557 		JBrowse link
G Rttn rotatin ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:82,220,999...82,398,334
Ensembl chr18:82,221,050...82,398,333 		JBrowse link
G Sall3 spalt-like transcription factor 3 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:74,406,066...74,425,974
Ensembl chr18:74,407,560...74,426,789 		JBrowse link
G Slc66a2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:73,702,472...73,739,678
Ensembl chr18:73,702,564...73,739,676 		JBrowse link
G Socs6 suppressor of cytokine signaling 6 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:82,111,866...82,139,193
Ensembl chr18:82,111,827...82,139,219 		JBrowse link
G Stx1a syntaxin 1A ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,641,971...21,670,022
Ensembl chr12:21,641,969...21,669,930 		JBrowse link
G Tbl2 transducin (beta)-like 2 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,517,600...21,531,896
Ensembl chr12:21,520,682...21,531,896 		JBrowse link
G Timm21 translocase of inner mitochondrial membrane 21 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:78,314,900...78,319,362
Ensembl chr18:78,314,909...78,319,454 		JBrowse link
G Tmem270 transmembrane protein 270 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,793,631...21,798,723
Ensembl chr12:21,794,130...21,798,731 		JBrowse link
G Tmx3 thioredoxin-related transmembrane protein 3 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:83,731,777...83,764,719
Ensembl chr18:83,731,868...83,762,263 		JBrowse link
G Trim50 tripartite motif-containing 50 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,300,784...21,317,668
Ensembl chr12:21,300,785...21,317,668 		JBrowse link
G Tshz1 teashirt zinc finger homeobox 1 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:77,376,399...77,452,815
Ensembl chr18:77,377,394...77,453,509 		JBrowse link
G Txnl4a thioredoxin-like 4A ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:73,659,107...73,674,893
Ensembl chr18:73,659,107...73,674,893 		JBrowse link
G Vps37d VPS37D subunit of ESCRT-I ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr12:21,609,210...21,614,669
Ensembl chr12:21,609,182...21,614,659 		JBrowse link
G Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:75,976,478...76,072,428
Ensembl chr18:75,978,231...76,073,737 		JBrowse link
G Zfp407 zinc finger protein 407 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:77,571,140...77,970,282
Ensembl chr18:77,571,204...77,974,129 		JBrowse link
G Zfp516 zinc finger protein 516 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:76,286,453...76,386,526
Ensembl chr18:76,302,096...76,385,269 		JBrowse link
ischiocoxopodopatellar syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx4 T-box transcription factor 4 ISO ClinVar Annotator: match by term: Coxopodopatellar syndrome | ClinVar Annotator: match by term: TBX4-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11303519 PMID:15106123 PMID:16199547 PMID:23592887 PMID:24033266 More... NCBI chr10:70,730,686...70,760,829
Ensembl chr10:70,731,163...70,760,825 		JBrowse link
Volvulus Of Midgut term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc1 ATP binding cassette subfamily C member 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114 		JBrowse link
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464 		JBrowse link
G Abhd11 abhydrolase domain containing 11 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,682,206...21,685,331
Ensembl chr12:21,682,202...21,685,398 		JBrowse link
G Abhd11-as1 ABHD11 antisense RNA 1 (tail to tail) ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,681,118...21,682,106 JBrowse link
G Adnp2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:73,571,870...73,597,088
Ensembl chr18:73,571,936...73,628,484 		JBrowse link
G Atp9b ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:74,176,863...74,368,993
Ensembl chr18:74,176,863...74,368,953 		JBrowse link
G Baz1b bromodomain adjacent to zinc finger domain, 1B ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,431,985...21,489,956
Ensembl chr12:21,431,985...21,490,426 		JBrowse link
G Bcl7b BAF chromatin remodeling complex subunit BCL7B ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,496,860...21,510,079
Ensembl chr12:21,496,856...21,510,202 		JBrowse link
G Bmerb1 bMERB domain containing 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr10:1,779,834...1,946,586
Ensembl chr10:1,779,835...1,946,575 		JBrowse link
G Bud23 BUD23, rRNA methyltransferase and ribosome maturation factor ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,629,551...21,640,758
Ensembl chr12:21,629,536...21,640,751 		JBrowse link
G C18h18orf63 similar to human chromosome 18 open reading frame 63 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:78,159,334...78,202,317
Ensembl chr18:78,164,661...78,202,326 		JBrowse link
G Cbln2 cerebellin 2 precursor ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:79,940,412...79,948,766
Ensembl chr18:79,942,590...79,947,855 		JBrowse link
G Cd226 CD226 molecule ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:82,449,924...82,545,107
Ensembl chr18:82,450,568...82,543,051 		JBrowse link
G Cep20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr10:714,051...736,826
Ensembl chr10:714,151...736,837 		JBrowse link
G Cldn3 claudin 3 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,708,538...21,710,010
Ensembl chr12:21,708,398...21,711,001 		JBrowse link
G Cldn4 claudin 4 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,751,638...21,753,436
Ensembl chr12:21,751,331...21,753,436 		JBrowse link
G Clip2 CAP-GLY domain containing linker protein 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:22,163,044...22,227,023
Ensembl chr12:22,163,218...22,227,023 		JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:77,984,886...78,030,837
Ensembl chr18:77,984,907...78,007,765 		JBrowse link
G Cndp2 carnosine dipeptidase 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:78,039,924...78,057,030
Ensembl chr18:78,039,932...78,056,922 		JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:73,854,277...73,916,232
Ensembl chr18:73,854,282...73,916,457 		JBrowse link
G Cyb5a cytochrome b5 type A ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:78,213,067...78,245,677
Ensembl chr18:78,202,342...78,258,535
Ensembl chr18:78,202,342...78,258,535 		JBrowse link
G Dipk1c divergent protein kinase domain 1C ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:78,087,972...78,109,910
Ensembl chr18:78,087,991...78,109,904 		JBrowse link
G Dmrtc1a DMRT-like family C1a ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr  X:67,822,187...67,852,572
Ensembl chr  X:67,822,113...67,852,571 		JBrowse link
G Dmrtc1c1 DMRT-like family C1c1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr  X:67,896,973...67,904,182
Ensembl chr  X:67,896,974...67,904,182 		JBrowse link
G Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,628,319...21,629,398
Ensembl chr12:21,626,450...21,629,408 		JBrowse link
G Dok6 docking protein 6 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:82,572,762...83,015,951
Ensembl chr18:82,572,762...83,015,951 		JBrowse link
G Dsel dermatan sulfate epimerase-like ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr13:186,413...192,592
Ensembl chr13:175,805...192,647 		JBrowse link
G Eif4h eukaryotic translation initiation factor 4H ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:22,083,155...22,099,876
Ensembl chr12:22,082,835...22,099,876 		JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Fbxo15 F-box protein 15 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:78,319,577...78,634,695
Ensembl chr18:78,319,534...78,390,765 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO associated with Craniosynostoses;DNA:missense mutations:cds:p.C342R, p.S252W (human) RGD PMID:27481450 RGD:12801473 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
G Fkbp6 FKBP prolyl isomerase family member 6 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,318,251...21,390,350
Ensembl chr12:21,319,568...21,390,350 		JBrowse link
G Fzd9 frizzled class receptor 9 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,427,084...21,429,398
Ensembl chr12:21,427,084...21,429,398 		JBrowse link
G Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 6:21,756,039...21,977,533
Ensembl chr 6:21,755,195...21,972,192 		JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:75,772,021...75,787,577
Ensembl chr18:75,772,023...75,787,577 		JBrowse link
G Gtf2i general transcription factor II I ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:22,400,933...22,476,243
Ensembl chr12:22,401,431...22,476,243 		JBrowse link
G Gtf2ird1 GTF2I repeat domain containing 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:22,254,113...22,361,052
Ensembl chr12:22,254,221...22,361,040 		JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr  X:67,385,288...67,593,014
Ensembl chr  X:67,385,289...67,592,923 		JBrowse link
G Hsbp1l1 heat shock factor binding protein 1-like 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:73,682,286...73,690,061
Ensembl chr18:73,682,286...73,688,045 		JBrowse link
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:73,742,224...73,810,420
Ensembl chr18:73,743,074...73,808,723 		JBrowse link
G Lat2 linker for activation of T cells family, member 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:22,104,173...22,118,294
Ensembl chr12:22,104,219...22,118,288 		JBrowse link
G Limk1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:22,026,697...22,060,605
Ensembl chr12:22,026,672...22,060,606 		JBrowse link
G Marf1 meiosis regulator and mRNA stability factor 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr10:888,053...932,760
Ensembl chr10:888,076...932,753 		JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404 		JBrowse link
G Mettl27 methyltransferase like 27 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,757,545...21,766,698
Ensembl chr12:21,757,329...21,766,685 		JBrowse link
G Mlxipl MLX interacting protein-like ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112 		JBrowse link
G Mpv17l MPV17 mitochondrial inner membrane protein like ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr10:1,988,451...2,025,300
Ensembl chr10:1,988,136...2,007,649 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869 		JBrowse link
G Neto1 neuropilin and tolloid like 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:79,635,633...79,753,913
Ensembl chr18:79,635,633...79,749,030 		JBrowse link
G Nfatc1 nuclear factor of activated T-cells 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:74,046,422...74,156,041
Ensembl chr18:74,046,904...74,156,028 		JBrowse link
G Nsun5 NOP2/Sun RNA methyltransferase 5 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,293,637...21,299,319
Ensembl chr12:21,293,645...21,299,272 		JBrowse link
G Pard6g par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:73,497,992...73,565,048
Ensembl chr18:73,498,021...73,565,029 		JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr  X:67,601,302...67,738,504
Ensembl chr  X:67,601,302...67,738,455 		JBrowse link
G Ptgr3 prostaglandin reductase 3 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:77,454,435...77,463,785
Ensembl chr18:77,454,435...77,463,785 		JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:73,639,264...73,648,914
Ensembl chr18:73,639,260...73,648,915 		JBrowse link
G Rfc2 replication factor C subunit 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:22,120,449...22,133,576
Ensembl chr12:22,120,010...22,133,557 		JBrowse link
G Rttn rotatin ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:82,220,999...82,398,334
Ensembl chr18:82,221,050...82,398,333 		JBrowse link
G Sall3 spalt-like transcription factor 3 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:74,406,066...74,425,974
Ensembl chr18:74,407,560...74,426,789 		JBrowse link
G Slc66a2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:73,702,472...73,739,678
Ensembl chr18:73,702,564...73,739,676 		JBrowse link
G Socs6 suppressor of cytokine signaling 6 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:82,111,866...82,139,193
Ensembl chr18:82,111,827...82,139,219 		JBrowse link
G Stx1a syntaxin 1A ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,641,971...21,670,022
Ensembl chr12:21,641,969...21,669,930 		JBrowse link
G Tbl2 transducin (beta)-like 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,517,600...21,531,896
Ensembl chr12:21,520,682...21,531,896 		JBrowse link
G Timm21 translocase of inner mitochondrial membrane 21 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:78,314,900...78,319,362
Ensembl chr18:78,314,909...78,319,454 		JBrowse link
G Tmem270 transmembrane protein 270 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,793,631...21,798,723
Ensembl chr12:21,794,130...21,798,731 		JBrowse link
G Tmx3 thioredoxin-related transmembrane protein 3 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:83,731,777...83,764,719
Ensembl chr18:83,731,868...83,762,263 		JBrowse link
G Trim50 tripartite motif-containing 50 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,300,784...21,317,668
Ensembl chr12:21,300,785...21,317,668 		JBrowse link
G Tshz1 teashirt zinc finger homeobox 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:77,376,399...77,452,815
Ensembl chr18:77,377,394...77,453,509 		JBrowse link
G Txnl4a thioredoxin-like 4A ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:73,659,107...73,674,893
Ensembl chr18:73,659,107...73,674,893 		JBrowse link
G Vps37d VPS37D subunit of ESCRT-I ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,609,210...21,614,669
Ensembl chr12:21,609,182...21,614,659 		JBrowse link
G Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:75,976,478...76,072,428
Ensembl chr18:75,978,231...76,073,737 		JBrowse link
G Zfp407 zinc finger protein 407 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:77,571,140...77,970,282
Ensembl chr18:77,571,204...77,974,129 		JBrowse link
G Zfp516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:76,286,453...76,386,526
Ensembl chr18:76,302,096...76,385,269 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    Pathological Conditions, Signs and Symptoms 13532
      Anatomical Pathological Conditions 2745
        Torsion Abnormality 76
          Bilateral Medial Tibial Torsion 0
          Bone Anteversion + 3
          Bone Retroversion + 0
          Uterine Retroversion 0
          intestinal volvulus + 73
          torsion dystonia 13 0
paths to the root