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:71,425,240...71,632,865
Ensembl chr X:71,394,928...71,632,865
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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
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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
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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
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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
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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
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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 chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653
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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
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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
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Vipr1
vasoactive intestinal peptide receptor 1
onset
ISO
DNA:SNP:intron:rs437876 (human)
RGD
PMID:19309439
RGD:5685626
NCBI chr 8:130,181,219...130,217,098
Ensembl chr 8:130,187,731...130,217,096
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:29302074 PMID:29593478 PMID:35607266 PMID:35665995 More...
NCBI chr 9:84,375,373...84,382,917
Ensembl chr 9:84,375,425...84,382,916
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 chr14:22,342,927...22,438,590
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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
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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
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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 1:105,734,992...105,816,272
Ensembl chr 1:105,734,992...105,815,982
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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 2:117,413,206...117,436,758
Ensembl chr 2:117,418,601...117,436,754
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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
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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
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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
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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
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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
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Tp63
tumor protein p63
ISS
OMIM:109350
MouseDO
NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177
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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
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
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 PMID:12548737 PMID:12700313 PMID:12730363 PMID:12752575 PMID:14646395 PMID:15173230 PMID:15217518 PMID:15516781 PMID:15666842 PMID:15690314 PMID:16098009 PMID:16199547 PMID:16609705 PMID:16789645 PMID:16938764 PMID:17853339 PMID:17911039 PMID:18172684 PMID:18261130 PMID:18414213 PMID:18426811 PMID:18615337 PMID:18628786 PMID:18953174 PMID:20447142 PMID:20674935 PMID:21626165 PMID:21656342 PMID:22538409 PMID:22824007 PMID:23315990 PMID:24790383 PMID:25741868 PMID:26243364 PMID:26595337 PMID:26622478 PMID:27133709 PMID:27414811 PMID:27618595 PMID:28492532 PMID:28655339 PMID:29180348 PMID:29255950 PMID:29383495 PMID:29874194 PMID:30069287 PMID:30381913 PMID:30455725 PMID:30612286 PMID:31069529 PMID:31589614 PMID:31600784 PMID:31937715 PMID:31939195 PMID:32146693 PMID:32185032 PMID:32700293 PMID:32938577 PMID:33247909 PMID:34867779 PMID:35570467 More...
NCBI chr 7:135,342,901...135,362,545
Ensembl chr 7:135,342,901...135,362,545
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
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