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.
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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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