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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.


show annotations for term's descendants           Sort by:
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 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 2:108,786,750...108,885,485
Ensembl chr 2:108,786,757...108,885,477 		JBrowse link
G EDAR ectodysplasin A receptor IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 2:108,894,471...108,989,220
Ensembl chr 2:108,894,471...108,989,372 		JBrowse link
G GCC2 GRIP and coiled-coil domain containing 2 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 2:108,449,206...108,509,415
Ensembl chr 2:108,449,107...108,509,415 		JBrowse link
G GCC2-AS1 GCC2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 2:108,507,527...108,534,219
Ensembl chr 2:108,507,515...108,534,196 		JBrowse link
G LIMS1 LIM zinc finger domain containing 1 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 2:108,533,671...108,687,246
Ensembl chr 2:108,533,671...108,687,246 		JBrowse link
G LIMS1-AS1 LIMS1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 2:108,676,795...108,678,601
Ensembl chr 2:108,676,795...108,678,601 		JBrowse link
G LINC01593 long intergenic non-protein coding RNA 1593 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 2:108,049,200...108,052,755
Ensembl chr 2:108,049,200...108,052,755 		JBrowse link
G LINC01594 long intergenic non-protein coding RNA 1594 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 2:108,167,748...108,217,841
Ensembl chr 2:108,167,125...108,217,886 		JBrowse link
G LOC107305685 2q12.3 distal recombination region IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 2:108,521,416...108,521,695 JBrowse link
G LOC112695112 Sharpr-MPRA regulatory region 6630 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 2:108,662,173...108,662,467 JBrowse link
G LOC122817721 Sharpr-MPRA regulatory region 7983 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 2:108,533,333...108,533,627 JBrowse link
G LOC122817722 OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:109191556-109192512 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 2:108,575,100...108,576,056 JBrowse link
G LOC126806301 MED14-independent group 3 enhancer GRCh37_chr2:108980844-108982043 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 2:108,364,388...108,365,587 JBrowse link
G LOC126806302 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:109210352-109211551 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 2:108,593,896...108,595,095 JBrowse link
G LOC126806303 BRD4-independent group 4 enhancer GRCh37_chr2:109573418-109574617 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 2:108,956,962...108,958,161 JBrowse link
G LOC129388897 MPRA-validated peak3811 silencer IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 2:108,846,029...108,846,229 JBrowse link
G LOC129388898 MPRA-validated peak3812 silencer IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 2:108,870,099...108,870,299 JBrowse link
G LOC129934519 ATAC-STARR-seq lymphoblastoid active region 16341 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532
G LOC129934520 ATAC-STARR-seq lymphoblastoid active region 16343 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532
G LOC129934521 ATAC-STARR-seq lymphoblastoid silent region 11849 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532
G LOC129934522 ATAC-STARR-seq lymphoblastoid active region 16344 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532
G LOC129934523 ATAC-STARR-seq lymphoblastoid active region 16345 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532
G LOC129934524 ATAC-STARR-seq lymphoblastoid active region 16346 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532
G LOC129934525 ATAC-STARR-seq lymphoblastoid active region 16347 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532
G LOC129934526 ATAC-STARR-seq lymphoblastoid active region 16348 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532
G LOC129934527 ATAC-STARR-seq lymphoblastoid active region 16349 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532
G LOC129934528 ATAC-STARR-seq lymphoblastoid active region 16350 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532
G LOC129934529 ATAC-STARR-seq lymphoblastoid silent region 11852 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532
G RANBP2 RAN binding protein 2 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 2:108,719,482...109,842,301
Ensembl chr 2:108,719,482...108,785,810 		JBrowse link
G SLC5A7 solute carrier family 5 member 7 IAGP
EXP		 ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia
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		 ClinVar
CTD
OMIM		 PMID:7420092 PMID:9536098 PMID:11294660 PMID:16199547 PMID:17576681 More... NCBI chr 2:107,986,524...108,013,994
Ensembl chr 2:107,986,523...108,013,994 		JBrowse link
G SULT1C2 sulfotransferase family 1C member 2 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 2:108,288,895...108,309,915
Ensembl chr 2:108,288,639...108,309,915 		JBrowse link
G SULT1C3 sulfotransferase family 1C member 3 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 2:108,239,968...108,265,351
Ensembl chr 2:108,239,968...108,265,351 		JBrowse link
G SULT1C4 sulfotransferase family 1C member 4 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 2:108,377,954...108,388,989
Ensembl chr 2:108,377,911...108,388,989 		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 GDAP1 ganglioside induced differentiation associated protein 1 IAGP
EXP		 ClinVar Annotator: match by term: Neuropathy, axonal, with vocal cord paresis, autosomal recessive
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
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: Charcot-Marie-Tooth disease, Type 4A, axonal form
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 More... NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007 		JBrowse link
G LOC130000622 ATAC-STARR-seq lymphoblastoid active region 27542 IAGP ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive ClinVar PMID:25741868 NCBI chr 8:74,350,416...74,350,645 JBrowse link
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22781092 PMID:27686364 NCBI chr 9:127,451,486...127,503,501
Ensembl chr 9:127,451,489...127,503,499 		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 ISO RGD PMID:9013782 RGD:151665480 NCBI chr12:51,951,699...51,997,078
Ensembl chr12:51,951,699...51,997,078 		JBrowse link
G ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 ISO mRNA:increased expression:hypoglossal nerve RGD PMID:11311987 RGD:5037239 NCBI chr21:26,835,755...26,845,409
Ensembl chr21:26,835,755...26,845,409 		JBrowse link
G AIF1 allograft inflammatory factor 1 ISO RGD PMID:9698327 RGD:704401 NCBI chr 6:31,615,234...31,617,015
Ensembl chr 6:31,615,217...31,617,021 		JBrowse link
G CSNK2B casein kinase 2 beta ISO RGD PMID:11068334 RGD:11565824 NCBI chr 6:31,666,080...31,670,067
Ensembl chr 6:31,665,227...31,670,343 		JBrowse link
G FGF2 fibroblast growth factor 2 ISO RGD PMID:9183688 RGD:8655640 NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO RGD PMID:9183688 RGD:8655640 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G GFRA1 GDNF family receptor alpha 1 ISO mRNA:increased expression:hypoglossal XII nerve RGD PMID:10407179 RGD:6218979 NCBI chr10:116,056,925...116,274,705
Ensembl chr10:116,056,925...116,276,803 		JBrowse link
G IL1R1 interleukin 1 receptor type 1 ISO mRNA:increased expression:hypoglossal nerve RGD PMID:11311987 RGD:5037239 NCBI chr 2:102,070,390...102,179,874
Ensembl chr 2:102,064,544...102,179,874 		JBrowse link
G MCAM melanoma cell adhesion molecule ISO RGD PMID:10076889 RGD:7364787 NCBI chr11:119,308,529...119,317,130
Ensembl chr11:119,308,529...119,321,521 		JBrowse link
G MME membrane metalloendopeptidase ISO RGD PMID:8201016 RGD:13801045 NCBI chr 3:155,024,202...155,183,729
Ensembl chr 3:155,024,124...155,183,704 		JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha ISO RGD PMID:7769990 RGD:7327191 NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084 		JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta ISO RGD PMID:7769990 RGD:7327191 NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498 		JBrowse link
G RET ret proto-oncogene ISO mRNA:increased expression:hypoglossal XII nerve RGD PMID:10407179 RGD:6218979 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G SMAD1 SMAD family member 1 ISO mRNA:increased expression:hypoglossal nucleus RGD PMID:17166487 RGD:1643227 NCBI chr 4:145,480,770...145,559,176
Ensembl chr 4:145,481,194...145,559,176 		JBrowse link
G SMAD2 SMAD family member 2 ISO mRNA:increased expression:hypoglossal nucleus RGD PMID:17166487 RGD:1643227 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146 		JBrowse link
G SMAD3 SMAD family member 3 ISO mRNA:increased expression:hypoglossal nucleus RGD PMID:17166487 RGD:1643227 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G SMAD4 SMAD family member 4 ISO mRNA:increased expression:hypoglossal nucleus RGD PMID:17166487 RGD:1643227 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SMAD7 SMAD family member 7 ISO mRNA:increased expression:hypoglossal nucleus RGD PMID:17166487 RGD:1643227 NCBI chr18:48,919,853...48,950,965
Ensembl chr18:48,919,853...48,950,965 		JBrowse link
G SMAD9 SMAD family member 9 ISO mRNA:decreased expression:hypoglossal nucleus RGD PMID:17166487 RGD:1643227 NCBI chr13:36,844,831...36,920,854
Ensembl chr13:36,844,831...36,920,887 		JBrowse link
G TXNRD1 thioredoxin reductase 1 ISO mRNA, protein:increased expression:neuron RGD PMID:19833109 RGD:5133729 NCBI chr12:104,215,779...104,350,307
Ensembl chr12:104,215,779...104,350,307 		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 IEP protein:increased expression:neuroblastoma (human) RGD PMID:18431543 RGD:8694471 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        peripheral nervous system disease 5382
          neuropathy 5129
            cranial nerve disease 882
              glossopharyngeal nerve disease 57
                Glossopharyngeal Nerve Injuries 0
                Vagus nerve disease + 36
                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