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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:Gastrointestinal Motility Disorders
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Accession:DOID:9000924 term browser browse the term
Definition:Disorders affecting the motor function of any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM.
Synonyms:narrow_synonym: ESOPHAGEAL AND COLONIC DYSMOTILITY


show annotations for term's descendants           Sort by:
Gastrointestinal Motility Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac8 histone deacetylase 8 ISO protein:decreased expression:colon (human) RGD PMID:16771768 RGD:13208819 NCBI chr  X:71,425,240...71,632,865
Ensembl chr  X:71,394,928...71,632,865 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Esophageal and colonic dysmotility ClinVar PMID:18391202 PMID:31944481 NCBI chr10:1,250,554...1,345,681
Ensembl chr10:1,263,194...1,345,678 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Esophageal and colonic dysmotility ClinVar PMID:18391202 PMID:31944481 NCBI chr10:1,347,010...1,391,167
Ensembl chr10:1,347,018...1,383,447 		JBrowse link
achalasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aaas aladin WD repeat nucleoporin susceptibility ISO RGD PMID:16098009 PMID:16098009 RGD:1598514, RGD:1598514 NCBI chr 7:135,342,901...135,362,545
Ensembl chr 7:135,342,901...135,362,545 		JBrowse link
G Lmna lamin A/C ISS OMIM:200400 MouseDO NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:176,237,564...176,288,072 		JBrowse link
G Nos1 nitric oxide synthase 1 ISS OMIM:200400 MouseDO NCBI chr12:44,276,011...44,456,371
Ensembl chr12:44,287,614...44,371,837 		JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphism (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:24997987 PMID:11837716 RGD:5147806 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism, haplotype
DNA:SNP::rs28688207 (human) 		CTD
RGD		 PMID:24997987 PMID:11837716 PMID:30092016 PMID:30788115 RGD:5147806, RGD:14865011, RGD:14974238 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118 		JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISS OMIM:200400 MouseDO NCBI chr15:89,106,809...89,111,926
Ensembl chr15:89,103,731...89,115,074 		JBrowse link
G Vipr1 vasoactive intestinal peptide receptor 1 onset ISO DNA:SNP:intron:rs437876 (human) RGD PMID:19309439 RGD:5685626 NCBI chr 8:130,181,219...130,217,098
Ensembl chr 8:130,187,731...130,217,096 		JBrowse link
Achalasia-Progeroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bud13 BUD13 homolog ISO ClinVar Annotator: match by term: Achalasia-progeroid syndrome OMIM
ClinVar		 PMID:35670808 NCBI chr 8:55,471,818...55,487,652
Ensembl chr 8:55,471,810...55,487,649 		JBrowse link
alacrima, achalasia, and impaired intellectual development syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aamp angio-associated, migratory cell protein ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:75,863,382...75,869,188
Ensembl chr 9:83,312,519...83,318,325 		JBrowse link
G Abcb6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,117,222...84,125,939
Ensembl chr 9:84,117,220...84,125,526 		JBrowse link
G Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,136,862...84,143,830
Ensembl chr 9:84,136,862...84,145,091 		JBrowse link
G Arpc2 actin related protein 2/3 complex, subunit 2 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,269,884...83,300,610
Ensembl chr 9:83,269,932...83,305,409 		JBrowse link
G Asic4 acid sensing ion channel subunit family member 4 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,389,610...84,411,545
Ensembl chr 9:84,390,104...84,411,538 		JBrowse link
G Atg9a autophagy related 9A ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,126,071...84,136,723
Ensembl chr 9:84,126,071...84,136,666 		JBrowse link
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,614,045...83,618,052
Ensembl chr 9:83,613,975...83,618,257 		JBrowse link
G Catip ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,395,095...83,402,743
Ensembl chr 9:83,394,896...83,402,740 		JBrowse link
G Cdk5r2 cyclin-dependent kinase 5 regulatory subunit 2 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,864,922...83,866,390
Ensembl chr 9:83,864,726...83,867,618 		JBrowse link
G Cfap65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,907,882...83,942,812
Ensembl chr 9:83,907,276...83,942,714 		JBrowse link
G Chpf chondroitin polymerizing factor ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:76,963,178...76,967,878
Ensembl chr 9:84,411,829...84,416,523 		JBrowse link
G Cnot9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,533,369...83,558,207
Ensembl chr 9:83,533,369...83,558,197 		JBrowse link
G Cnppd1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,082,148...84,088,888
Ensembl chr 9:84,082,149...84,089,788 		JBrowse link
G Cryba2 crystallin, beta A2 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,895,921...83,906,651
Ensembl chr 9:83,895,922...83,899,131 		JBrowse link
G Ctdsp1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,422,755...83,428,411
Ensembl chr 9:83,423,051...83,428,412 		JBrowse link
G Cxcr1 C-X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,216,040...83,220,225
Ensembl chr 9:83,215,292...83,226,872 		JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,178,645...83,185,017
Ensembl chr 9:83,183,808...83,188,602 		JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,712,402...83,743,222
Ensembl chr 9:83,713,293...83,743,215 		JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,299,626...84,307,344
Ensembl chr 9:84,298,447...84,307,347 		JBrowse link
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,179,702...84,187,942
Ensembl chr 9:84,179,695...84,187,942 		JBrowse link
G Dnpep aspartyl aminopeptidase ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,248,581...84,257,484
Ensembl chr 9:84,233,486...84,256,977 		JBrowse link
G Fev FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,887,844...83,891,718
Ensembl chr 9:83,887,844...83,891,737 		JBrowse link
G Glb1l galactosidase, beta 1-like ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,141,993...84,154,176
Ensembl chr 9:84,143,841...84,154,176 		JBrowse link
G Gmppa GDP-mannose pyrophosphorylase A ISO
ISS 		ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME | ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
OMIM:615510 		OMIM
ClinVar
MouseDO		 PMID:24035193 PMID:25741868 PMID:27717089 PMID:28492532 PMID:28574218 More... NCBI chr 9:84,375,373...84,382,917
Ensembl chr 9:84,375,425...84,382,916 		JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,309,895...83,312,397
Ensembl chr 9:83,311,246...83,315,608 		JBrowse link
G Ihh Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,952,986...83,959,203
Ensembl chr 9:83,952,986...83,959,203 		JBrowse link
G Mir26b microRNA 26b ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,425,709...83,425,793
Ensembl chr 9:83,425,709...83,425,793 		JBrowse link
G Mir375 microRNA 375 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,906,582...83,906,656 JBrowse link
G Nhej1 nonhomologous end-joining factor 1 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,974,995...84,071,161
Ensembl chr 9:83,974,997...84,070,594 		JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,416,447...84,442,415
Ensembl chr 9:84,416,240...84,442,415 		JBrowse link
G Plcd4 phospholipase C, delta 4 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,564,616...83,613,742
Ensembl chr 9:83,564,606...83,606,454 		JBrowse link
G Pnkd PNKD metallo-beta-lactamase domain containing ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,317,757...83,386,263
Ensembl chr 9:83,317,738...83,386,262 		JBrowse link
G Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,744,385...83,753,629
Ensembl chr 9:83,744,385...83,753,729 		JBrowse link
G Ptprn protein tyrosine phosphatase, receptor type, N ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,189,676...84,205,364
Ensembl chr 9:84,189,676...84,204,850 		JBrowse link
G Resp18 regulated endocrine-specific protein 18 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,213,844...84,220,186
Ensembl chr 9:84,213,467...84,221,299 		JBrowse link
G Retreg2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,088,935...84,095,072
Ensembl chr 9:84,088,964...84,094,837 		JBrowse link
G Rnf25 ring finger protein 25 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,619,148...83,626,020
Ensembl chr 9:83,619,149...83,627,263 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,406,327...83,417,252
Ensembl chr 9:83,406,427...83,417,238 		JBrowse link
G Slc23a3 solute carrier family 23, member 3 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,071,286...84,081,951
Ensembl chr 9:84,071,471...84,080,037 		JBrowse link
G Speg striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,314,387...84,371,816
Ensembl chr 9:84,314,387...84,371,813 		JBrowse link
G Stk16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,154,285...84,157,521
Ensembl chr 9:84,148,623...84,157,521 		JBrowse link
G Stk36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,625,905...83,652,785
Ensembl chr 9:83,626,030...83,653,525 		JBrowse link
G Tmbim1 transmembrane BAX inhibitor motif containing 1 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,320,972...83,338,469
Ensembl chr 9:83,320,979...83,338,657 		JBrowse link
G Tmem198 transmembrane protein 198 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:76,968,079...76,974,131
Ensembl chr 9:84,416,752...84,422,758 		JBrowse link
G Ttll4 tubulin tyrosine ligase like 4 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,670,788...83,706,891
Ensembl chr 9:83,681,025...83,700,404 		JBrowse link
G Tuba4a tubulin, alpha 4A ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,158,871...84,174,041
Ensembl chr 9:84,158,280...84,162,584 		JBrowse link
G Usp37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,467,966...83,567,848
Ensembl chr 9:83,467,966...83,533,172 		JBrowse link
G Vil1 villin 1 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,440,248...83,467,963
Ensembl chr 9:83,440,248...83,467,961 		JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,798,594...83,811,060
Ensembl chr 9:83,798,594...83,811,067 		JBrowse link
G Wnt6 Wnt family member 6 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,778,552...83,792,186
Ensembl chr 9:83,778,552...83,792,186 		JBrowse link
G Zfand2b zinc finger AN1-type containing 2B ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,114,170...84,117,115
Ensembl chr 9:84,114,190...84,117,554 		JBrowse link
G Zfp142 zinc finger protein 142 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,591,318...83,613,896
Ensembl chr 9:83,591,318...83,613,896 		JBrowse link
CREST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpc centromere protein C ISO associated with Anticentromere antibody positivity RGD PMID:25220385 RGD:27372886 NCBI chr14:21,988,067...22,046,732
Ensembl chr14:22,342,927...22,438,590 		JBrowse link
G Fbn1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		JBrowse link
gastroesophageal reflux disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21552517 NCBI chr10:7,503,351...7,599,474
Ensembl chr10:7,492,022...7,599,474 		JBrowse link
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Gastroesophageal reflux ClinVar PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More... NCBI chr 1:105,734,992...105,816,272
Ensembl chr 1:105,734,992...105,815,982 		JBrowse link
G Actl6a actin-like 6A ISO ClinVar Annotator: match by term: Gastroesophageal reflux ClinVar PMID:19215055 PMID:25741868 PMID:28649782 PMID:31994175 NCBI chr 2:117,413,206...117,436,758
Ensembl chr 2:117,418,601...117,436,754 		JBrowse link
G Ccl26 C-C motif chemokine ligand 26 ISO protein:increased expression:esophagus (human) RGD PMID:17900656 RGD:11081162 NCBI chr12:26,745,972...26,750,924 JBrowse link
G Pla2g2a phospholipase A2 group IIA ISO RGD PMID:19672667 RGD:6482726 NCBI chr 5:156,359,725...156,362,302
Ensembl chr 5:156,359,725...156,362,297 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21451212 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:64,713,619...64,722,320 		JBrowse link
G Tac1 tachykinin, precursor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20616304 NCBI chr 4:36,645,344...36,653,548
Ensembl chr 4:36,645,571...36,653,546 		JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:decreased expression:sputum, macrophage RGD PMID:21426732 RGD:7240539 NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194 		JBrowse link
G Tp63 tumor protein p63 ISS OMIM:109350 MouseDO NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177 		JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Gastroesophageal reflux ClinVar PMID:25741868 NCBI chr19:67,190,901...67,232,569
Ensembl chr19:67,190,901...67,232,569 		JBrowse link
Moyamoya Disease 6 with Achalasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 ISO ClinVar Annotator: match by term: GUCY1A1-related condition | ClinVar Annotator: match by term: Moyamoya disease 6 with achalasia OMIM
ClinVar		 PMID:24581742 PMID:25741868 PMID:26777256 PMID:28492532 NCBI chr 2:169,716,684...169,780,360
Ensembl chr 2:169,716,709...169,779,737 		JBrowse link
triple-A syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aaas aladin WD repeat nucleoporin ISO ClinVar Annotator: match by term: AAAS-related condition | ClinVar Annotator: match by term: Achalasia-alacrima syndrome | ClinVar Annotator: match by term: Glucocorticoid deficiency with achalasia
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:11062474 PMID:11159947 PMID:11701718 PMID:11914417 PMID:12429595 More... NCBI chr 7:135,342,901...135,362,545
Ensembl chr 7:135,342,901...135,362,545 		JBrowse link
G Myg1 MYG1 exonuclease ISO ClinVar Annotator: match by term: Glucocorticoid deficiency with achalasia ClinVar NCBI chr 7:135,335,364...135,342,567
Ensembl chr 7:135,335,334...135,346,740 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      gastrointestinal system disease 7168
        Gastrointestinal Motility Disorders 77
          dyskinesia of esophagus + 74
paths to the root