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: Volvulus Of Midgut
Accession: DOID:9008419
browse the term
Synonyms: exact_synonym: Intestinal Malrotation, Familial
primary_id: MESH:C562456 ; RDO:0012176
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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