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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:glossopharyngeal nerve disease
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Accession:DOID:3418 term browser browse the term
Definition:A cranial nerve disease that is located_in the ninth cranial nerve or its nuclei in the medulla. (DO)
Synonyms:exact_synonym: Glossopharyngeal Nerve Sensory Neuropathy;   cranial nerve IX diseases;   cranial nerve IX disorders;   glossopharyngeal nerve diseases;   glossopharyngeal nerve taste disorder;   ninth cranial nerve disease;   ninth cranial nerve diseases
 primary_id: MESH:D020435
 xref: ICD10CM:G52;   ICD9CM:352
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal dominant distal hereditary motor neuronopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7420092 PMID:9536098 PMID:11294660 PMID:16199547 PMID:17576681 More... NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
Charcot-Marie-Tooth Disease Type 4A, Axonal Form term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox1 acyl-CoA oxidase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive ClinVar PMID:25326637 PMID:28492532 NCBI chr10:101,406,197...101,431,252
Ensembl chr10:101,406,197...101,431,232 		JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 4A, axonal form ClinVar PMID:21208200 PMID:25326637 PMID:25741868 PMID:27751653 PMID:28635954 NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889 		JBrowse link
G 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 More... NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061 		JBrowse link
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 		JBrowse link
Hypoglossal Nerve Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr1b activin A receptor type 1B IEP RGD PMID:9013782 RGD:151665480 NCBI chr 7:132,286,266...132,329,679
Ensembl chr 7:132,286,275...132,329,673 		JBrowse link
G Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 IEP mRNA:increased expression:hypoglossal nerve RGD PMID:11311987 RGD:5037239 NCBI chr11:24,932,227...24,941,068
Ensembl chr11:24,931,761...24,941,103 		JBrowse link
G Aif1 allograft inflammatory factor 1 IEP RGD PMID:9698327 RGD:704401 NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668 		JBrowse link
G Csnk2b casein kinase 2 beta IEP RGD PMID:11068334 RGD:11565824 NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133 		JBrowse link
G Fgf2 fibroblast growth factor 2 IEP RGD PMID:9183688 RGD:8655640 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 IEP RGD PMID:9183688 RGD:8655640 NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Gfra1 GDNF family receptor alpha 1 IEP mRNA:increased expression:hypoglossal XII nerve RGD PMID:10407179 RGD:6218979 NCBI chr 1:257,315,682...257,552,004
Ensembl chr 1:257,321,742...257,551,473 		JBrowse link
G Il1r1 interleukin 1 receptor type 1 IEP mRNA:increased expression:hypoglossal nerve RGD PMID:11311987 RGD:5037239 NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937 		JBrowse link
G Mcam melanoma cell adhesion molecule IEP RGD PMID:10076889 RGD:7364787 NCBI chr 8:44,479,391...44,487,575
Ensembl chr 8:44,479,376...44,487,571 		JBrowse link
G Mme membrane metallo-endopeptidase IEP RGD PMID:8201016 RGD:13801045 NCBI chr 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792 		JBrowse link
G Prkaca protein kinase cAMP-activated catalytic subunit alpha IEP RGD PMID:7769990 RGD:7327191 NCBI chr19:24,155,081...24,178,430
Ensembl chr19:24,155,090...24,178,430 		JBrowse link
G Prkacb protein kinase cAMP-activated catalytic subunit beta IEP RGD PMID:7769990 RGD:7327191 NCBI chr 2:235,636,878...235,726,928
Ensembl chr 2:235,636,885...235,726,198 		JBrowse link
G Ret ret proto-oncogene IEP mRNA:increased expression:hypoglossal XII nerve RGD PMID:10407179 RGD:6218979 NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
G Smad1 SMAD family member 1 IEP mRNA:increased expression:hypoglossal nucleus RGD PMID:17166487 RGD:1643227 NCBI chr19:28,513,130...28,573,665
Ensembl chr19:28,513,131...28,573,651 		JBrowse link
G Smad2 SMAD family member 2 IEP mRNA:increased expression:hypoglossal nucleus RGD PMID:17166487 RGD:1643227 NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323 		JBrowse link
G Smad3 SMAD family member 3 IEP mRNA:increased expression:hypoglossal nucleus RGD PMID:17166487 RGD:1643227 NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960 		JBrowse link
G Smad4 SMAD family member 4 IEP mRNA:increased expression:hypoglossal nucleus RGD PMID:17166487 RGD:1643227 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438 		JBrowse link
G Smad7 SMAD family member 7 IEP mRNA:increased expression:hypoglossal nucleus RGD PMID:17166487 RGD:1643227 NCBI chr18:68,988,429...69,016,774
Ensembl chr18:68,988,429...69,016,765 		JBrowse link
G Smad9 SMAD family member 9 IEP mRNA:decreased expression:hypoglossal nucleus RGD PMID:17166487 RGD:1643227 NCBI chr 2:138,956,326...139,006,315
Ensembl chr 2:138,986,471...139,006,307 		JBrowse link
G Txnrd1 thioredoxin reductase 1 IEP mRNA, protein:increased expression:neuron RGD PMID:19833109 RGD:5133729 NCBI chr 7:20,830,042...20,914,990
Ensembl chr 7:20,830,045...20,907,863 		JBrowse link
olfactory neuroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hif1a hypoxia inducible factor 1 subunit alpha severity ISO protein:increased expression:neuroblastoma (human) RGD PMID:18431543 RGD:8694471 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        peripheral nervous system disease 4382
          neuropathy 4169
            cranial nerve disease 822
              glossopharyngeal nerve disease 33
                Glossopharyngeal Nerve Injuries 0
                Vagus nerve disease + 12
                accessory nerve disease + 0
                glossopharyngeal motor neuropathy 0
                glossopharyngeal nerve paralysis 0
                glossopharyngeal neuralgia 0
                hypoglossal nerve disease + 20
                multiple cranial nerve palsy + 0
                olfactory nerve disease + 1
paths to the root