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: facial nerve disease
Accession: DOID:1756
browse the term
Definition: A cranial nerve disease that is located_in the facial nerve (seventh cranial nerve. (DO)
Synonyms: exact_synonym: Acquired Facial Neuropathy; Facial Myokymia; Facial Myokymias; Facial Nerve Disorder; Facial Nerve Disorders; Facial Nerve Motor Disorders; Facial Nerve Sensory Disorders; Facial Neuritides; Facial Neuritis; Facial Neuropathies; Facial Neuropathy; acquired facial neuropathies; cranial nerve VII diseases; cranial nerve VII disorders; facial nerve diseases; familial facial neuropathies; familial facial neuropathy; seventh cranial nerve diseases
primary_id: MESH:D005155
xref: EFO:1002051 ; ICD10CM:G51 ; ICD9CM:351 ; NCI:C27594
For additional species annotation, visit the
Alliance of Genome Resources .
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Ppia
peptidylprolyl isomerase A
exacerbates
ISO
protein:increased expression:blood serum (human)
RGD
PMID:32149981
RGD:150429625
NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601
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Mymk
myomaker, myoblast fusion factor
ISO
ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE
ClinVar
PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30016436 PMID:30065953 More...
NCBI chr 3:10,388,363...10,397,294
Ensembl chr 3:10,388,361...10,397,343
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Mymk
myomaker, myoblast fusion factor
ISO
ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 1
OMIM ClinVar
PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30065953
NCBI chr 3:10,388,363...10,397,294
Ensembl chr 3:10,388,361...10,397,343
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Mymx
myomixer, myoblast fusion factor
ISO
ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2
OMIM ClinVar
PMID:35642635
NCBI chr 9:15,397,086...15,398,263
Ensembl chr 9:15,397,144...15,398,263
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Polr1c
RNA polymerase I and III subunit C
ISO
ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2
ClinVar
PMID:35642635
NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
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Eya1
EYA transcriptional coactivator and phosphatase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15493068
NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483
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Tubb6
tubulin, beta 6 class V
ISO
ClinVar Annotator: match by term: Facial palsy, congenital, with ptosis and velopharyngeal dysfunction
OMIM ClinVar
PMID:25741868 PMID:29016863
NCBI chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418
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Adcyap1
adenylate cyclase activating polypeptide 1
IEP
mRNA:increased expression:facial VII nucleus
RGD
PMID:19427307
RGD:2325258
NCBI chr 9:113,102,632...113,122,500
Ensembl chr 9:113,103,718...113,109,773
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Atf2
activating transcription factor 2
IEP
RGD
PMID:9813301
RGD:10047413
NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236
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Ccr3
C-C motif chemokine receptor 3
ISO
RGD
PMID:19922414
RGD:6892922
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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Cd59b
CD59b molecule
IEP
mRNA, protein:increased expression:facial VII nucleus
RGD
PMID:9846834
RGD:1600495
NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847
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Csf1
colony stimulating factor 1
IEP
protein:increased expression:facial VII nerve, microglial cell
RGD
PMID:20831658
RGD:5131509
NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
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Ctss
cathepsin S
ISO
RGD
PMID:17539023
RGD:5686912
NCBI chr 2:183,086,437...183,114,483
Ensembl chr 2:183,086,437...183,114,483
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Gfra1
GDNF family receptor alpha 1
IEP
mRNA:increased expression:facial VII nucleus
RGD
PMID:9582449
RGD:6218984
NCBI chr 1:257,315,682...257,552,004
Ensembl chr 1:257,321,742...257,551,473
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Hgf
hepatocyte growth factor
treatment
IDA
RGD
PMID:21562589
RGD:8548634
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Mt3
metallothionein 3
treatment
IDA
RGD
PMID:14625437
RGD:9685806
NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158
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Ndufa5
NADH:ubiquinone oxidoreductase subunit A5
IEP
mRNA:increased expression:skeletal muscle
RGD
PMID:8875451
RGD:2302319
NCBI chr 4:52,997,327...53,005,685
Ensembl chr 4:52,995,546...53,005,598
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Ret
ret proto-oncogene
IEP
mRNA:increased expression:facial VII nucleus
RGD
PMID:9582449
RGD:6218984
NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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Mmp9
matrix metallopeptidase 9
ISO
associated with Herpes Simplex;mRNA, protein:increased expression:facial VII nucleus
RGD
PMID:23817985
RGD:8547852
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:4327920
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Hoxb1
homeo box B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24239177
NCBI chr10:81,331,507...81,332,928
Ensembl chr10:81,331,507...81,332,836
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Hoxb1
homeo box B1
ISO
ClinVar Annotator: match by term: Facial paresis, hereditary congenital, 3
OMIM ClinVar
PMID:22770981 PMID:25741868 PMID:26007620 PMID:26467025 PMID:27144914 PMID:28492532 More...
NCBI chr10:81,331,507...81,332,928
Ensembl chr10:81,331,507...81,332,836
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RT1-CE16
RT1 class I, locus CE16
ISO
protein:increased expression:peripheral blood (human)
RGD
PMID:32045706
RGD:329961316
NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563
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Adamts8
ADAM metallopeptidase with thrombospondin type 1 motif, 8
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
NCBI chr 8:29,349,078...29,368,413
Ensembl chr 8:29,349,114...29,368,404
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Amh
anti-Mullerian hormone
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:8,906,776...8,909,192
Ensembl chr 7:8,906,836...8,909,282
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Bcdin3d
BCDIN3 domain containing RNA methyltransferase
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
PMID:28492532
NCBI chr 7:130,605,540...130,610,134
Ensembl chr 7:130,605,541...130,610,115
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Cdh11
cadherin 11
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
NCBI chr19:2,148,447...2,305,754
Ensembl chr19:2,148,458...2,304,272
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Chn1
chimerin 1
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
NCBI chr 3:58,509,822...58,676,462
Ensembl chr 3:58,510,536...58,676,490
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Ebf3
EBF transcription factor 3
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
NCBI chr 1:191,996,726...192,114,593
Ensembl chr 1:191,996,730...192,114,359
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Garin4
golgi associated RAB2 interactor family member 4
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
NCBI chr13:102,742,988...102,745,168
Ensembl chr13:102,742,988...102,745,168
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Hecw2
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
PMID:25741868
NCBI chr 9:55,359,462...55,753,106
Ensembl chr 9:55,365,203...55,580,327
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Hspb7
heat shock protein family B (small) member 7
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
NCBI chr 5:153,727,782...153,731,268
Ensembl chr 5:153,727,588...153,731,266
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Ints6l
integrator complex subunit 6 like
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
NCBI chr X:134,258,117...134,325,706
Ensembl chr X:134,258,125...134,309,617
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Kbtbd7
kelch repeat and BTB domain containing 7
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
NCBI chr15:54,806,878...54,811,457
Ensembl chr15:54,806,873...54,811,687
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Mrpl28
mitochondrial ribosomal protein L28
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
NCBI chr10:15,148,698...15,151,581
Ensembl chr10:15,148,681...15,151,581
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Plcb2
phospholipase C, beta 2
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
NCBI chr 3:105,683,676...105,704,384
Ensembl chr 3:105,684,815...105,704,302
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Plxnd1
plexin D1
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
PMID:25741868
NCBI chr 4:149,002,786...149,043,097
Ensembl chr 4:149,002,784...149,043,244
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Ptch2
patched 2
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
PMID:28492532 PMID:28915250
NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405
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Sim1
SIM bHLH transcription factor 1
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
PMID:2152513 PMID:23778139 PMID:25234154 PMID:25741868 PMID:28492532
NCBI chr20:53,827,601...53,907,219
Ensembl chr20:53,828,364...53,907,212
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Zfp787
zinc finger protein 787
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
NCBI chr 1:67,745,702...67,771,132
Ensembl chr 1:67,758,757...67,771,132
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Tp53
tumor protein p53
IEP
RGD
PMID:22977862
RGD:8547771
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Aif1
allograft inflammatory factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27093858
NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668
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Calca
calcitonin-related polypeptide alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27093858
NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
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Cdk5
cyclin-dependent kinase 5
IDA
RGD
PMID:21161138
RGD:13782378
NCBI chr 4:10,754,682...10,760,110
Ensembl chr 4:10,754,687...10,760,112
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Cdk5r1
cyclin-dependent kinase 5 regulatory subunit 1
IEP
RGD
PMID:21161138
RGD:13782378
NCBI chr10:65,484,266...65,485,467
Ensembl chr10:65,483,941...65,488,456
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Fos
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27093858
NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
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Gabrg1
gamma-aminobutyric acid type A receptor subunit gamma 1
ISS
OMIM:190400
MouseDO
NCBI chr14:37,396,217...37,469,606
Ensembl chr14:37,396,294...37,635,956
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Gfap
glial fibrillary acidic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27093858
NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
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Grin1
glutamate ionotropic receptor NMDA type subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27093858
NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27093858
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Mapk1
mitogen activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27093858
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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Mapk3
mitogen activated protein kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27093858
NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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Mapk8
mitogen-activated protein kinase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27093858
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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Mapk9
mitogen-activated protein kinase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27093858
NCBI chr10:34,169,661...34,211,138
Ensembl chr10:34,169,675...34,210,178
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Mir125a
microRNA 125a
IEP
RNA:decreased expression: trigeminal ganglion:
RGD
PMID:25380251
RGD:26884456
NCBI chr 1:58,677,626...58,677,710
Ensembl chr 1:58,677,626...58,677,710
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Prkcg
protein kinase C, gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27093858
NCBI chr 1:65,832,851...65,860,676
Ensembl chr 1:65,832,855...65,859,384
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27093858
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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