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: Vagus nerve disease
Accession: DOID:12491
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Definition: Diseases of the tenth cranial nerve, including brain stem lesions involving its nuclei (solitary, ambiguus, and dorsal motor), nerve fascicles, and intracranial and extracranial course. Clinical manifestations may include dysphagia, vocal cord weakness, and alterations of parasympathetic tone in the thorax and abdomen.
Synonyms: exact_synonym: Cranial Nerve X Diseases; Pneumogastric Nerve Disorder; Pneumogastric Nerve Disorders; Tenth Cranial Nerve Diseases; Vagus Nerve Disorder; Vagus Nerve Disorders; Vagus Nerve Motor Disorder; Vagus Nerve Sensory Disorder; Vagus Neuropathies; Vagus Neuropathy; Vagus nerve diseases; disorder of pneumogastric [10th] nerve; disorder of vagal nerve; disorder of vagus nerve
primary_id: MESH:D020421 ; RDO:0006815
xref: ICD10CM:G52.2 ; ICD9CM:352.3 ; NCI:C27591
For additional species annotation, visit the
Alliance of Genome Resources .
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Gdap1
ganglioside-induced differentiation-associated-protein 1
ISO
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 4A, axonal form | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | ClinVar Annotator: match by term: Charcot-Marie-Tooth with Vocal Cord Paresis | ClinVar Annotator: match by term: Neuropathy, axonal, with vocal cord paresis, autosomal recessive
OMIM ClinVar
PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 PMID:12707075 PMID:14561495 PMID:15019704 PMID:15805163 PMID:17039978 PMID:17433678 PMID:18504680 PMID:18991200 PMID:19500985 PMID:20232219 PMID:20301641 PMID:20301711 PMID:20849849 PMID:21519004 PMID:21840889 PMID:25231362 PMID:25326637 PMID:25741868 PMID:26467025 PMID:26848201 PMID:27549087 PMID:28492532 PMID:32376792 PMID:33187793 More...
NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061
G
Lrsam1
leucine rich repeat and sterile alpha motif containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22781092 PMID:27686364
NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154
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Ccdc138
coiled-coil domain containing 138
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376
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Edar
ectodysplasin-A receptor
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
G
Gcc2
GRIP and coiled-coil domain containing 2
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr20:26,247,394...26,293,613
Ensembl chr20:26,247,404...26,293,613
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Lims1
LIM zinc finger domain containing 1
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr20:26,309,833...26,418,511
Ensembl chr20:26,309,895...26,418,500
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Ranbp2
RAN binding protein 2
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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Slc5a7
solute carrier family 5 member 7
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
OMIM ClinVar
PMID:7420092 PMID:9536098 PMID:11294660 PMID:16199547 PMID:17576681 PMID:23141292 PMID:25741868 PMID:27569547 PMID:28492532 More...
NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258
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Sult1c2a
sulfotransferase family 1C member 2A
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr 9:6,873,697...6,904,736
Ensembl chr 9:6,874,249...6,904,734
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Sult1c3
sulfotransferase family 1C member 3
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr 9:7,221,580...7,266,991
Ensembl chr 9:7,221,578...7,267,030
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Dctn1
dynactin subunit 1
ISO
ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, TYPE VIIB | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7B
OMIM ClinVar
PMID:9536098 PMID:12062019 PMID:12627231 PMID:15326253 PMID:16199547 PMID:16505168 PMID:17576681 PMID:17824900 PMID:18812314 PMID:19279216 PMID:19506225 PMID:22777741 PMID:23143281 PMID:24627108 PMID:25025039 PMID:25382069 PMID:25635128 PMID:25741868 PMID:26392352 PMID:26429889 PMID:26467025 PMID:26662454 PMID:27132499 PMID:28130640 PMID:28430856 PMID:28492532 PMID:32028661 PMID:32402491 PMID:33369814 More...
NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815
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Dync1h1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:25635128
NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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Gars1
glycyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:25635128
NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609
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Mfn2
mitofusin 2
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:28492532
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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Mpz
myelin protein zero
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:28492532
NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
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Nefl
neurofilament light chain
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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Plekhg5
pleckstrin homology and RhoGEF domain containing G5
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:16728649 PMID:17564964
NCBI chr 5:162,577,999...162,621,518
Ensembl chr 5:162,578,071...162,621,513
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Scn11a
sodium voltage-gated channel alpha subunit 11
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:24776970 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29213238
NCBI chr 8:119,495,550...119,567,044
Ensembl chr 8:119,496,769...119,567,044
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Setx
senataxin
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:24533459
NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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Sh3tc2
SH3 domain and tetratricopeptide repeats 2
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:28492532
NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083
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Trpv4
transient receptor potential cation channel, subfamily V, member 4
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:20037586 PMID:20460441 PMID:21336783 PMID:22702953 PMID:25900305 PMID:26110311 PMID:26467025 PMID:28492532 More...
NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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