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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:intestinal obstruction
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Accession:DOID:8437 term browser browse the term
Definition:Any impairment, arrest, or reversal of the normal flow of INTESTINAL CONTENTS toward the ANAL CANAL.
Synonyms:exact_synonym: Intestinal Obstructions
 primary_id: MESH:D007415;   RDO:0000997
 xref: ICD10CM:K56.60;   ICD10CM:K56.609;   ICD10CM:K56.69;   ICD9CM:560.9;   NCI:C9175
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
intestinal obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg2 actin gamma 2, smooth muscle ISO ClinVar Annotator: match by term: Intestinal obstruction ClinVar PMID:22960657 PMID:24777424 PMID:25741868 PMID:29781137 NCBI chr 4:116,021,832...116,046,475
Ensembl chr 4:116,021,832...116,046,465
JBrowse link
G Hfe homeostatic iron regulator ISO associated with cystic fibrosis;DNA:missense mutation: :p.H63D (human) RGD PMID:30291871 RGD:14701045 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
JBrowse link
G Il10 interleukin 10 IEP protein:decreased expression:serum RGD PMID:19377777 RGD:2311052 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Mir21 microRNA 21 ISO RNA:increased expression:colon RGD PMID:23826144 RGD:41404691 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IEP protein:increased expression:colon RGD PMID:21051526 RGD:5135055 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Slc26a3 solute carrier family 26 member 3 ISO ClinVar Annotator: match by term: Intestinal obstruction ClinVar PMID:9718329 PMID:21394828 PMID:25741868 PMID:31680349 NCBI chr 6:48,023,892...48,064,829
Ensembl chr 6:48,023,892...48,064,772
JBrowse link
G Slc26a9 solute carrier family 26 member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22466613 NCBI chr13:43,177,806...43,205,450
Ensembl chr13:43,177,867...43,204,330
JBrowse link
G Slc6a14 solute carrier family 6 member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22466613 NCBI chr  X:112,314,643...112,375,412
Ensembl chr  X:112,314,691...112,375,096
JBrowse link
G Slc9a3 solute carrier family 9 member A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22466613 NCBI chr 1:29,124,633...29,167,912
Ensembl chr 1:29,124,674...29,167,417
JBrowse link
autosomal dominant familial visceral neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg2 actin gamma 2, smooth muscle ISO ClinVar Annotator: match by term: Visceral neuropathy, familial, autosomal dominant ClinVar PMID:23806086 PMID:24088041 PMID:24337657 PMID:24676022 PMID:25326635 More... NCBI chr 4:116,021,832...116,046,475
Ensembl chr 4:116,021,832...116,046,465
JBrowse link
chronic atrial and intestinal dysrhythmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sgo1 shugoshin 1 ISO ClinVar Annotator: match by OMIM:616201 ClinVar
OMIM
PMID:25282101 NCBI chr 9:6,672,109...6,687,908
Ensembl chr 9:6,672,123...6,687,805
JBrowse link
Cystic Fibrosis, Modifier of, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a9 solute carrier family 26 member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22466613 NCBI chr13:43,177,806...43,205,450
Ensembl chr13:43,177,867...43,204,330
JBrowse link
G Slc6a14 solute carrier family 6 member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22466613 NCBI chr  X:112,314,643...112,375,412
Ensembl chr  X:112,314,691...112,375,096
JBrowse link
G Slc9a3 solute carrier family 9 member A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22466613 NCBI chr 1:29,124,633...29,167,912
Ensembl chr 1:29,124,674...29,167,417
JBrowse link
duodenal atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh1a2 aldehyde dehydrogenase 1 family, member A2 severity ISO mRNA:decreased expression:duodenum RGD PMID:23021139 PMID:21492869 RGD:14367881, RGD:14367883 NCBI chr 8:71,877,850...71,957,107
Ensembl chr 8:71,877,850...71,957,107
JBrowse link
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Duodenal stenosis ClinVar PMID:1370875 PMID:1377276 PMID:1380673 PMID:1381146 PMID:1384321 More... NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO RGD PMID:15185216 RGD:12801491 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Gucy2c guanylate cyclase 2C ISO ClinVar Annotator: match by term: Duodenal atresia ClinVar NCBI chr 4:169,568,505...169,649,092
Ensembl chr 4:169,568,529...169,649,092
JBrowse link
G LOC500354 similar to C030030A07Rik protein ISO ClinVar Annotator: match by term: Duodenal atresia ClinVar NCBI chr 4:169,716,821...169,731,532
Ensembl chr 4:169,716,030...169,734,237
JBrowse link
Familial Visceral Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg2 actin gamma 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:22960657 NCBI chr 4:116,021,832...116,046,475
Ensembl chr 4:116,021,832...116,046,465
JBrowse link
ileus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmox1 heme oxygenase 1 treatment IEP associated with Sepsis RGD PMID:22921918 RGD:10755726 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP mRNA, protein:increased expression:jejunum, colon, peritoneal fluid RGD PMID:23079570 RGD:8547906 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
intestinal pseudo-obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg2 actin gamma 2, smooth muscle ISO ClinVar Annotator: match by term: Visceral myopathy
ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction
ClinVar PMID:11474115 PMID:21681106 PMID:22960657 PMID:23806086 PMID:24088041 More... NCBI chr 4:116,021,832...116,046,475
Ensembl chr 4:116,021,832...116,046,465
JBrowse link
G Clmp CXADR-like membrane protein ISO ClinVar Annotator: match by term: Congenital short bowel syndrome
ClinVar Annotator: match by term: Congenital short bowel syndrome 1
ClinVar
OMIM
PMID:16707984 PMID:18209785 PMID:22155368 PMID:25741868 PMID:27352967 More... NCBI chr 8:41,060,527...41,168,841
Ensembl chr 8:41,060,799...41,168,838
JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuronal intestinal pseudoobstruction
CTD
ClinVar
PMID:25741868 PMID:33497358 NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525
JBrowse link
G Lmod1 leiomodin 1 ISO ClinVar Annotator: match by term: Visceral myopathy ClinVar PMID:28292896 NCBI chr13:46,754,048...46,796,186
Ensembl chr13:46,754,033...46,794,900
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Visceral myopathy
ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction
ClinVar PMID:25407000 PMID:31389005 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
JBrowse link
G Myl9 myosin light chain 9 ISO ClinVar Annotator: match by term: Visceral myopathy ClinVar PMID:21293372 PMID:25741868 PMID:29453416 PMID:33031641 NCBI chr 3:145,281,943...145,288,333
Ensembl chr 3:145,281,937...145,288,333
JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Visceral myopathy ClinVar PMID:28602422 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction ClinVar PMID:31389005 NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
JBrowse link
G Nup35 nucleoporin 35 ISS MouseDO NCBI chr 3:65,555,203...65,594,488
Ensembl chr 3:65,558,968...65,585,130
JBrowse link
G Pten phosphatase and tensin homolog ISS MouseDO NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO RGD PMID:24177421 RGD:8547979 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISS OMIM:243180 | OMIM:601223 MouseDO NCBI chr15:82,692,312...82,697,408
Ensembl chr15:82,692,143...82,698,009
JBrowse link
G Tlx2 T-cell leukemia homeobox 2 ISS OMIM:243180 | OMIM:601223 MouseDO NCBI chr 4:115,573,736...115,576,097
Ensembl chr 4:115,573,799...115,575,642
JBrowse link
intestinal volvulus 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: 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 chr12:21,496,856...21,510,202
Ensembl chr12:21,496,856...21,510,202
JBrowse link
G Bmerb1 bMERB domain containing 1 ISO ClinVar Annotator: match by term: 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 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 chr12:21,628,323...21,629,389
Ensembl chr12:21,626,450...21,629,408
JBrowse link
G Dok6 docking protein 6 ISO ClinVar Annotator: match by term: 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 chr18:78,296,999...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 chr12:22,104,163...22,118,294
Ensembl chr12:22,104,219...22,118,288
JBrowse link
G Limk1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: 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 LOC100359752 hypothetical protein LOC100359752 ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:78,159,334...78,202,319
Ensembl chr18:78,164,661...78,202,326
JBrowse link
G Marf1 meiosis regulator and mRNA stability factor 1 ISO ClinVar Annotator: match by term: 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 chr12:21,542,964...21,577,120
Ensembl chr12:21,543,576...21,577,112
JBrowse link
G Mpv17l MPV17 mitochondrial inner membrane protein like ISO ClinVar Annotator: match by term: 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 chr18:74,046,421...74,156,041
Ensembl chr18:74,046,904...74,156,028
JBrowse link
G Nsun5 NOP2/Sun RNA methyltransferase 5 ISO ClinVar Annotator: match by term: 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 chr18:73,498,119...73,565,048
Ensembl chr18:73,498,021...73,565,029
JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: 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 Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL ClinVar PMID:25741868 NCBI chr18:73,639,260...73,648,942
Ensembl chr18:73,639,260...73,648,915
JBrowse link
G Rfc2 replication factor C subunit 2 ISO ClinVar Annotator: match by term: 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 chr18:74,406,058...74,425,754
Ensembl chr18:74,407,560...74,426,789
JBrowse link
G Slc66a2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: 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...21,532,114
Ensembl chr12:21,520,682...21,531,896
JBrowse link
G Timm21 translocase of inner mitochondrial membrane 21 ISO ClinVar Annotator: match by term: 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 chr18:83,731,763...83,764,374
Ensembl chr18:83,731,868...83,762,263
JBrowse link
G Trim50 tripartite motif-containing 50 ISO ClinVar Annotator: match by term: 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...77,452,315
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 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 Zadh2 zinc binding alcohol dehydrogenase, domain containing 2 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 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
Meconium Ileus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gucy2c guanylate cyclase 2C ISO ClinVar Annotator: match by term: Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
ClinVar Annotator: match by term: Meconium ileus
ClinVar Annotator: match by OMIM:614665
OMIM
ClinVar
PMID:4006357 PMID:22521417 PMID:24033266 PMID:25370039 PMID:25741868 More... NCBI chr 4:169,568,505...169,649,092
Ensembl chr 4:169,568,529...169,649,092
JBrowse link
G Hfe homeostatic iron regulator ISO associated with cystic fibrosis;DNA:missense mutation: :p.H63D (human) RGD PMID:30291871 RGD:14701045 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
JBrowse link
G LOC500354 similar to C030030A07Rik protein ISO ClinVar Annotator: match by term: Meconium ileus
ClinVar Annotator: match by term: Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
ClinVar PMID:4006357 PMID:22521417 PMID:24033266 PMID:25370039 PMID:25741868 More... NCBI chr 4:169,716,821...169,731,532
Ensembl chr 4:169,716,030...169,734,237
JBrowse link
megacystis-microcolon-intestinal hypoperistalsis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg2 actin gamma 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD
OMIM
PMID:24337657 PMID:24676022 NCBI chr 4:116,021,832...116,046,475
Ensembl chr 4:116,021,832...116,046,465
JBrowse link
G Chrm3 cholinergic receptor, muscarinic 3 ISS OMIM:155310 MouseDO NCBI chr17:60,005,137...60,467,250
Ensembl chr17:60,005,202...60,467,278
JBrowse link
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mylk myosin light chain kinase ISO OMIM NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
JBrowse link
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2 OMIM
ClinVar
PMID:25407000 PMID:25741868 PMID:29575632 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
JBrowse link
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmod1 leiomodin 1 ISO ClinVar Annotator: match by term: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3 OMIM
ClinVar
PMID:28292896 NCBI chr13:46,754,048...46,796,186
Ensembl chr13:46,754,033...46,794,900
JBrowse link
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myl9 myosin light chain 9 ISO ClinVar Annotator: match by term: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4 ClinVar
OMIM
PMID:21293372 PMID:25741868 PMID:33031641 NCBI chr 3:145,281,943...145,288,333
Ensembl chr 3:145,281,937...145,288,333
JBrowse link
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg2 actin gamma 2, smooth muscle ISO ClinVar Annotator: match by term: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5 OMIM
ClinVar
PMID:11474115 PMID:23806086 PMID:24088041 PMID:24337657 PMID:24676022 More... NCBI chr 4:116,021,832...116,046,475
Ensembl chr 4:116,021,832...116,046,465
JBrowse link
mitochondrial DNA depletion syndrome 8A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:23643385 PMID:25741868 PMID:28492532 NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:632821 PMID:11431686 PMID:11571332 PMID:12210792 PMID:12297582 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: RRM2B-related mitochondrial disease
ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy
ClinVar Annotator: match by OMIM:612075
ClinVar
OMIM
PMID:9536098 PMID:17486094 PMID:17576681 PMID:19138848 PMID:19664747 More... NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
ClinVar Annotator: match by term: Thymidine phosphorylase deficiency
ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome
ClinVar PMID:2005900 PMID:9924029 PMID:10852545 PMID:12529715 PMID:14720311 More... NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874
JBrowse link
mitochondrial DNA depletion syndrome 8b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8B (MNGIE type)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:19667227 PMID:24741716 NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
JBrowse link
G Tymp thymidine phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16972839 PMID:22977166 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874
JBrowse link
Mungan Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rad21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Mungan syndrome OMIM
ClinVar
PMID:14638363 PMID:25575569 PMID:25741868 NCBI chr 7:83,287,867...83,314,810
Ensembl chr 7:83,287,870...83,314,817
JBrowse link
neuronal intestinal dysplasia type A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO OMIM NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525
JBrowse link
Visceral Myopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: VISCERAL MYOPATHY 2 OMIM
ClinVar
PMID:18391202 PMID:31389005 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: VISCERAL MYOPATHY 2 ClinVar PMID:18391202 PMID:31389005 NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
JBrowse link
Volvulus Of Midgut term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc1 ATP binding cassette subfamily C member 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114
JBrowse link
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464
JBrowse link
G Abhd11 abhydrolase domain containing 11 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,682,206...21,685,331
Ensembl chr12:21,682,202...21,685,398
JBrowse link
G Abhd11-as1 ABHD11 antisense RNA 1 (tail to tail) ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,681,118...21,682,106 JBrowse link
G Adnp2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:73,571,870...73,597,088
Ensembl chr18:73,571,936...73,628,484
JBrowse link
G Atp9b ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:74,176,863...74,368,993
Ensembl chr18:74,176,863...74,368,953
JBrowse link
G Baz1b bromodomain adjacent to zinc finger domain, 1B ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,431,985...21,489,956
Ensembl chr12:21,431,985...21,490,426
JBrowse link
G Bcl7b BAF chromatin remodeling complex subunit BCL7B ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,496,856...21,510,202
Ensembl chr12:21,496,856...21,510,202
JBrowse link
G Bmerb1 bMERB domain containing 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr10:1,779,834...1,946,586
Ensembl chr10:1,779,835...1,946,575
JBrowse link
G Bud23 BUD23, rRNA methyltransferase and ribosome maturation factor ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,629,551...21,640,758
Ensembl chr12:21,629,536...21,640,751
JBrowse link
G Cbln2 cerebellin 2 precursor ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:79,940,412...79,948,766
Ensembl chr18:79,942,590...79,947,855
JBrowse link
G Cd226 CD226 molecule ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:82,449,924...82,545,107
Ensembl chr18:82,450,568...82,543,051
JBrowse link
G Cep20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr10:714,051...736,826
Ensembl chr10:714,151...736,837
JBrowse link
G Cldn3 claudin 3 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,708,538...21,710,010
Ensembl chr12:21,708,398...21,711,001
JBrowse link
G Cldn4 claudin 4 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,751,638...21,753,436
Ensembl chr12:21,751,331...21,753,436
JBrowse link
G Clip2 CAP-GLY domain containing linker protein 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:22,163,044...22,227,023
Ensembl chr12:22,163,218...22,227,023
JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:77,984,886...78,030,837
Ensembl chr18:77,984,907...78,007,765
JBrowse link
G Cndp2 carnosine dipeptidase 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:78,039,924...78,057,030
Ensembl chr18:78,039,932...78,056,922
JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:73,854,277...73,916,232
Ensembl chr18:73,854,282...73,916,457
JBrowse link
G Cyb5a cytochrome b5 type A ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:78,213,067...78,245,677
Ensembl chr18:78,202,342...78,258,535
Ensembl chr18:78,202,342...78,258,535
JBrowse link
G Dipk1c divergent protein kinase domain 1C ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:78,087,972...78,109,910
Ensembl chr18:78,087,991...78,109,904
JBrowse link
G Dmrtc1a DMRT-like family C1a ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr  X:67,822,187...67,852,572
Ensembl chr  X:67,822,113...67,852,571
JBrowse link
G Dmrtc1c1 DMRT-like family C1c1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr  X:67,896,973...67,904,182
Ensembl chr  X:67,896,974...67,904,182
JBrowse link
G Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,628,323...21,629,389
Ensembl chr12:21,626,450...21,629,408
JBrowse link
G Dok6 docking protein 6 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:82,572,762...83,015,951
Ensembl chr18:82,572,762...83,015,951
JBrowse link
G Dsel dermatan sulfate epimerase-like ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr13:186,413...192,592
Ensembl chr13:175,805...192,647
JBrowse link
G Eif4h eukaryotic translation initiation factor 4H ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:22,083,155...22,099,876
Ensembl chr12:22,082,835...22,099,876
JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
JBrowse link
G Fbxo15 F-box protein 15 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:78,296,999...78,634,695
Ensembl chr18:78,319,534...78,390,765
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO associated with Craniosynostoses;DNA:missense mutations:cds:p.C342R, p.S252W (human) RGD PMID:27481450 RGD:12801473 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Fkbp6 FKBP prolyl isomerase family member 6 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,318,251...21,390,350
Ensembl chr12:21,319,568...21,390,350
JBrowse link
G Fzd9 frizzled class receptor 9 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,427,084...21,429,398
Ensembl chr12:21,427,084...21,429,398
JBrowse link
G Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr 6:21,756,039...21,977,533
Ensembl chr 6:21,755,195...21,972,192
JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:75,772,021...75,787,577
Ensembl chr18:75,772,023...75,787,577
JBrowse link
G Gtf2i general transcription factor II I ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:22,400,933...22,476,243
Ensembl chr12:22,401,431...22,476,243
JBrowse link
G Gtf2ird1 GTF2I repeat domain containing 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:22,254,113...22,361,052
Ensembl chr12:22,254,221...22,361,040
JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr  X:67,385,288...67,593,014
Ensembl chr  X:67,385,289...67,592,923
JBrowse link
G Hsbp1l1 heat shock factor binding protein 1-like 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:73,682,286...73,690,061
Ensembl chr18:73,682,286...73,688,045
JBrowse link
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:73,742,224...73,810,420
Ensembl chr18:73,743,074...73,808,723
JBrowse link
G Lat2 linker for activation of T cells family, member 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:22,104,163...22,118,294
Ensembl chr12:22,104,219...22,118,288
JBrowse link
G Limk1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:22,026,697...22,060,605
Ensembl chr12:22,026,672...22,060,606
JBrowse link
G LOC100359752 hypothetical protein LOC100359752 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:78,159,334...78,202,319
Ensembl chr18:78,164,661...78,202,326
JBrowse link
G Marf1 meiosis regulator and mRNA stability factor 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr10:888,053...932,760
Ensembl chr10:888,076...932,753
JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404
JBrowse link
G Mettl27 methyltransferase like 27 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,757,545...21,766,698
Ensembl chr12:21,757,329...21,766,685
JBrowse link
G Mlxipl MLX interacting protein-like ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,542,964...21,577,120
Ensembl chr12:21,543,576...21,577,112
JBrowse link
G Mpv17l MPV17 mitochondrial inner membrane protein like ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr10:1,988,451...2,025,300
Ensembl chr10:1,988,136...2,007,649
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
JBrowse link
G Neto1 neuropilin and tolloid like 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:79,635,633...79,753,913
Ensembl chr18:79,635,633...79,749,030
JBrowse link
G Nfatc1 nuclear factor of activated T-cells 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:74,046,421...74,156,041
Ensembl chr18:74,046,904...74,156,028
JBrowse link
G Nsun5 NOP2/Sun RNA methyltransferase 5 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,293,637...21,299,319
Ensembl chr12:21,293,645...21,299,272
JBrowse link
G Pard6g par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:73,498,119...73,565,048
Ensembl chr18:73,498,021...73,565,029
JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr  X:67,601,302...67,738,504
Ensembl chr  X:67,601,302...67,738,455
JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:73,639,260...73,648,942
Ensembl chr18:73,639,260...73,648,915
JBrowse link
G Rfc2 replication factor C subunit 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:22,120,449...22,133,576
Ensembl chr12:22,120,010...22,133,557
JBrowse link
G Rttn rotatin ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:82,220,999...82,398,334
Ensembl chr18:82,221,050...82,398,333
JBrowse link
G Sall3 spalt-like transcription factor 3 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:74,406,058...74,425,754
Ensembl chr18:74,407,560...74,426,789
JBrowse link
G Slc66a2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:73,702,472...73,739,678
Ensembl chr18:73,702,564...73,739,676
JBrowse link
G Socs6 suppressor of cytokine signaling 6 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:82,111,866...82,139,193
Ensembl chr18:82,111,827...82,139,219
JBrowse link
G Stx1a syntaxin 1A ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,641,971...21,670,022
Ensembl chr12:21,641,969...21,669,930
JBrowse link
G Tbl2 transducin (beta)-like 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,517,600...21,532,114
Ensembl chr12:21,520,682...21,531,896
JBrowse link
G Timm21 translocase of inner mitochondrial membrane 21 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:78,314,900...78,319,362
Ensembl chr18:78,314,909...78,319,454
JBrowse link
G Tmem270 transmembrane protein 270 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,793,631...21,798,723
Ensembl chr12:21,794,130...21,798,731
JBrowse link
G Tmx3 thioredoxin-related transmembrane protein 3 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:83,731,763...83,764,374
Ensembl chr18:83,731,868...83,762,263
JBrowse link
G Trim50 tripartite motif-containing 50 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,300,784...21,317,668
Ensembl chr12:21,300,785...21,317,668
JBrowse link
G Tshz1 teashirt zinc finger homeobox 1 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:77,376,399...77,452,315
Ensembl chr18:77,377,394...77,453,509
JBrowse link
G Txnl4a thioredoxin-like 4A ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:73,659,107...73,674,893 JBrowse link
G Vps37d VPS37D subunit of ESCRT-I ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr12:21,609,210...21,614,669
Ensembl chr12:21,609,182...21,614,659
JBrowse link
G Zadh2 zinc binding alcohol dehydrogenase, domain containing 2 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:77,454,435...77,463,785
Ensembl chr18:77,454,435...77,463,785
JBrowse link
G Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:75,976,478...76,072,428
Ensembl chr18:75,978,231...76,073,737
JBrowse link
G Zfp407 zinc finger protein 407 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:77,571,140...77,970,282
Ensembl chr18:77,571,204...77,974,129
JBrowse link
G Zfp516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Volvulus of midgut ClinVar PMID:25741868 NCBI chr18:76,286,453...76,386,526
Ensembl chr18:76,302,096...76,385,269
JBrowse link
X-linked chronic idiopathic intestinal pseudo-obstruction 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: INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, WITH CENTRAL NERVOUS SYSTEM INVOLVEMENT OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Hydrocephalus, X-linked, with hirschsprung disease
ClinVar Annotator: match by term: HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE
ClinVar PMID:9279760 PMID:11857550 PMID:12650797 PMID:15148591 PMID:15368500 More... NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      gastrointestinal system disease 6067
        intestinal disease 2453
          intestinal obstruction 109
            Cystic Fibrosis, Modifier of, 1 3
            Duodenojejunal Atresia with Volvulus, Absent Dorsal Mesentery and Absent Superior Mesenteric Artery 0
            Fecal Impaction 0
            Microcolon 0
            afferent loop syndrome 0
            duodenal obstruction + 5
            ileus + 28
            intestinal impaction 0
            intestinal volvulus + 73
            intussusception 0
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      gastrointestinal system disease 6067
        Gastrointestinal Diseases 4152
          intestinal disease 2453
            intestinal obstruction 109
              Cystic Fibrosis, Modifier of, 1 3
              Duodenojejunal Atresia with Volvulus, Absent Dorsal Mesentery and Absent Superior Mesenteric Artery 0
              Fecal Impaction 0
              Microcolon 0
              afferent loop syndrome 0
              duodenal obstruction + 5
              ileus + 28
              intestinal impaction 0
              intestinal volvulus + 73
              intussusception 0
paths to the root