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
Accession: DOID:9000924
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
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Hdac8
histone deacetylase 8
ISO
protein:decreased expression:colon (human)
RGD
PMID:16771768
RGD:13208819
NCBI chr X:67,385,288...67,593,014
Ensembl chr X:67,385,289...67,592,923
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Myh11
myosin heavy chain 11
ISO
ClinVar Annotator: match by term: Esophageal and colonic dysmotility
ClinVar
PMID:18391202
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: Esophageal and colonic dysmotility
ClinVar
PMID:18391202
NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
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Aaas
aladin WD repeat nucleoporin
susceptibility
ISO
RGD
PMID:16098009 PMID:16098009
RGD:1598514 , RGD:1598514
NCBI chr 7:133,464,315...133,483,961
Ensembl chr 7:133,464,315...133,483,961
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Lmna
lamin A/C
ISS
OMIM:200400
MouseDO
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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Nos1
nitric oxide synthase 1
ISS
OMIM:200400
MouseDO
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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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 chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphism (human) DNA:SNP::rs28688207 (human) DNA:polymorphism, haplotype CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24997987 PMID:11837716 PMID:30788115 PMID:30092016
RGD:5147806 , RGD:14974238 , RGD:14865011
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Spry2
sprouty RTK signaling antagonist 2
ISS
OMIM:200400
MouseDO
NCBI chr15:82,692,291...82,697,408
Ensembl chr15:82,692,143...82,698,009
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Vipr1
vasoactive intestinal peptide receptor 1
onset
ISO
DNA:SNP:intron:rs437876 (human)
RGD
PMID:19309439
RGD:5685626
NCBI chr 8:121,303,739...121,339,587
Ensembl chr 8:121,310,248...121,339,585
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Aamp
angio-associated, migratory cell protein
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:75,863,382...75,869,188
Ensembl chr 9:75,863,389...75,868,547
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Abcb6
ATP binding cassette subfamily B member 6
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
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Ankzf1
ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,688,194...76,695,162
Ensembl chr 9:76,688,194...76,696,469
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Arpc2
actin related protein 2/3 complex, subunit 2
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:75,820,782...75,851,471
Ensembl chr 9:75,820,770...75,851,471
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Asic4
acid sensing ion channel subunit family member 4
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,941,532...76,962,900
Ensembl chr 9:76,941,532...76,962,900
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Atg9a
autophagy related 9A
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,677,403...76,688,050
Ensembl chr 9:76,677,404...76,687,986
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Bcs1l
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
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Catip
ciliogenesis associated TTC17 interacting protein
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:75,945,960...75,953,618
Ensembl chr 9:75,945,961...75,953,607
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Cdk5r2
cyclin-dependent kinase 5 regulatory subunit 2
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,416,251...76,417,719
Ensembl chr 9:76,416,062...76,418,344
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Cfap65
cilia and flagella associated protein 65
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,459,211...76,494,199
Ensembl chr 9:76,459,211...76,494,128
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Chpf
chondroitin polymerizing factor
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,963,178...76,967,878
Ensembl chr 9:76,963,184...76,967,878
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Cnot9
CCR4-NOT transcription complex subunit 9
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,084,269...76,109,111
Ensembl chr 9:76,084,334...76,109,100
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Cnppd1
cyclin Pas1/PHO80 domain containing 1
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,633,475...76,640,164
Ensembl chr 9:76,633,477...76,640,188
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Cryba2
crystallin, beta A2
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,447,250...76,457,968
Ensembl chr 9:76,447,251...76,450,460
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Ctdsp1
CTD small phosphatase 1
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:75,973,694...75,979,298
Ensembl chr 9:75,973,962...75,979,297
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Cxcr1
C-X-C motif chemokine receptor 1
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:75,766,894...75,771,079
Ensembl chr 9:75,766,770...75,771,084
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Cxcr2
C-X-C motif chemokine receptor 2
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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Cyp27a1
cytochrome P450, family 27, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
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Des
desmin
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
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Dnajb2
DnaJ heat shock protein family (Hsp40) member B2
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277
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Dnpep
aspartyl aminopeptidase
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,799,931...76,808,841
Ensembl chr 9:76,783,966...76,808,716
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Fev
FEV transcription factor, ETS family member
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,439,164...76,443,603
Ensembl chr 9:76,439,172...76,443,065
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Glb1l
galactosidase, beta 1-like
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,693,325...76,705,548
Ensembl chr 9:76,695,173...76,705,510
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Gmppa
GDP-mannose pyrophosphorylase A
ISO ISS
OMIM:615510 ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME | ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
OMIM MouseDO ClinVar
PMID:24035193 PMID:25741868 PMID:28492532 PMID:28574218 PMID:29593478
NCBI chr 9:76,926,724...76,934,274
Ensembl chr 9:76,926,739...76,934,269
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Gpbar1
G protein-coupled bile acid receptor 1
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:75,860,758...75,863,260
Ensembl chr 9:75,860,677...75,863,168
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Ihh
Indian hedgehog signaling molecule
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
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Mir26b
microRNA 26b
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:75,976,596...75,976,680
Ensembl chr 9:75,976,596...75,976,680
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Mir375
microRNA 375
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,457,911...76,457,985
Ensembl chr 9:76,457,911...76,457,985
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Nhej1
nonhomologous end-joining factor 1
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444
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Obsl1
obscurin like cytoskeletal adaptor 1
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,967,802...76,993,771
Ensembl chr 9:76,974,253...76,993,560
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Plcd4
phospholipase C, delta 4
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,115,523...76,158,602
Ensembl chr 9:76,117,168...76,142,453
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Pnkd
PNKD metallo-beta-lactamase domain containing
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:75,868,620...75,937,126
Ensembl chr 9:75,867,468...75,937,124
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Prkag3
protein kinase AMP-activated non-catalytic subunit gamma 3
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,295,715...76,304,959
Ensembl chr 9:76,295,715...76,304,959
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Ptprn
protein tyrosine phosphatase, receptor type, N
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,741,010...76,756,704
Ensembl chr 9:76,741,016...76,756,190
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Resp18
regulated endocrine-specific protein 18
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,765,179...76,771,824
Ensembl chr 9:76,764,590...76,778,722
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Retreg2
reticulophagy regulator family member 2
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,640,282...76,646,400
Ensembl chr 9:76,640,319...76,646,395
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Rnf25
ring finger protein 25
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,170,037...76,176,924
Ensembl chr 9:76,170,037...76,176,849
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Slc11a1
solute carrier family 11 member 1
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Slc23a3
solute carrier family 23, member 3
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,622,621...76,633,188
Ensembl chr 9:76,622,800...76,631,366
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Speg
striated muscle enriched protein kinase
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,865,714...76,923,170
Ensembl chr 9:76,865,754...76,923,144
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Stk16
serine/threonine kinase 16
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,705,591...76,708,859
Ensembl chr 9:76,705,602...76,708,855
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Stk36
serine/threonine kinase 36
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,176,922...76,204,423
Ensembl chr 9:76,176,920...76,204,422
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Tmbim1
transmembrane BAX inhibitor motif containing 1
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:75,871,835...75,889,366
Ensembl chr 9:75,871,835...75,889,069
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Tmem198
transmembrane protein 198
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,968,079...76,974,131
Ensembl chr 9:76,968,107...77,033,011
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Ttll4
tubulin tyrosine ligase like 4
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,221,659...76,258,219
Ensembl chr 9:76,221,796...76,251,301
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Tuba4a
tubulin, alpha 4A
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918
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Usp37
ubiquitin specific peptidase 37
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,018,863...76,118,732
Ensembl chr 9:76,018,991...76,084,044
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Vil1
villin 1
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:75,991,141...76,018,860
Ensembl chr 9:75,991,141...76,018,858
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Wnt10a
Wnt family member 10A
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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Wnt6
Wnt family member 6
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,329,882...76,343,523
Ensembl chr 9:76,329,882...76,343,523
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Zfand2b
zinc finger AN1-type containing 2B
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,665,466...76,668,447
Ensembl chr 9:76,665,546...76,668,445
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Zfp142
zinc finger protein 142
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,141,053...76,164,784
Ensembl chr 9:76,142,227...76,164,856
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Cenpc
centromere protein C
ISO
associated with Anticentromere antibody positivity
RGD
PMID:25220385
RGD:27372886
NCBI chr14:21,988,067...22,046,732
Ensembl chr14:21,988,144...22,055,476
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Fbn1
fibrillin 1
ISO
RGD
PMID:10395706
RGD:12910471
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Abat
4-aminobutyrate aminotransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21552517
NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
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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 PMID:25741868 PMID:27538677 PMID:32027066 PMID:32792356 PMID:33565752 PMID:36208030 More...
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
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Actl6a
actin-like 6A
ISO
ClinVar Annotator: match by term: Gastroesophageal reflux
ClinVar
PMID:19215055 PMID:25741868 PMID:28649782 PMID:31994175
NCBI chr 2:115,492,374...115,508,401
Ensembl chr 2:115,492,285...115,508,401
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Ccl26
C-C motif chemokine ligand 26
ISO
protein:increased expression:esophagus (human)
RGD
PMID:17900656
RGD:11081162
NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
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Gmppa
GDP-mannose pyrophosphorylase A
ISO
ClinVar Annotator: match by term: Gastroesophageal reflux
ClinVar
PMID:24035193
NCBI chr 9:76,926,724...76,934,274
Ensembl chr 9:76,926,739...76,934,269
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Pla2g2a
phospholipase A2 group IIA
ISO
RGD
PMID:19672667
RGD:6482726
NCBI chr 5:151,076,442...151,079,019
Ensembl chr 5:151,076,442...151,079,014
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21451212
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Ryr1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Gastroesophageal reflux
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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Tac1
tachykinin, precursor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20616304
NCBI chr 4:35,679,183...35,687,180
Ensembl chr 4:35,679,704...35,687,178
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Tlr2
toll-like receptor 2
ISO
protein:decreased expression:sputum, macrophage
RGD
PMID:21426732
RGD:7240539
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tp63
tumor protein p63
ISS
OMIM:109350
MouseDO
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Zfp469
zinc finger protein 469
ISO
ClinVar Annotator: match by term: Gastroesophageal reflux
ClinVar
PMID:25741868
NCBI chr19:50,282,337...50,324,010
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Gucy1a1
guanylate cyclase 1 soluble subunit alpha 1
ISO
ClinVar Annotator: match by term: Moyamoya disease 6 with achalasia
OMIM ClinVar
PMID:24581742 PMID:25741868 PMID:26777256 PMID:28492532
NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671
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Aaas
aladin WD repeat nucleoporin
ISO
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 PMID:12548737 PMID:12700313 PMID:12730363 PMID:12752575 PMID:14646395 PMID:15173230 PMID:15516781 PMID:15666842 PMID:15690314 PMID:16098009 PMID:16199547 PMID:16609705 PMID:16938764 PMID:17853339 PMID:18172684 PMID:18261130 PMID:18414213 PMID:18615337 PMID:18628786 PMID:20674935 PMID:22538409 PMID:22824007 PMID:23315990 PMID:25741868 PMID:26243364 PMID:26595337 PMID:27133709 PMID:27618595 PMID:28492532 PMID:29180348 PMID:29255950 PMID:29383495 PMID:29874194 PMID:30069287 PMID:30381913 PMID:30455725 PMID:31600784 PMID:31937715 PMID:32146693 PMID:32700293 PMID:35570467 More...
NCBI chr 7:133,464,315...133,483,961
Ensembl chr 7:133,464,315...133,483,961
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Myg1
MYG1 exonuclease
ISO
ClinVar Annotator: match by term: Glucocorticoid deficiency with achalasia
ClinVar
NCBI chr 7:133,456,778...133,463,985
Ensembl chr 7:133,456,750...133,466,969
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all