Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

GENE - TERM ANNOTATION REPORT

RGD ID: 620144
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ntrk1
Name: neurotrophic receptor tyrosine kinase 1
Acc ID: DOID:0070146
Term: hereditary sensory neuropathy type 4
Definition: A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/14272277 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/8696348 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Ntrk1 ISONTRK1 (Homo sapiens)7240710OMIM  
Ntrk1 ISONTRK1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: FAMILIAL DYSAUTONOMIA, TYPE II | ClinVar Annotator: match by term: HSAN 4 | ClinVar Annotator: match by term: HSAN Type IV | ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy 4 | ClinVar Annotator: match by term: Insensitivity to pain, congenital, with anhidrosis | ClinVar Annotator: match by term: Neuropathy, congenital sensory, with anhidrosisPMID:0233776 PMID:10090906 PMID:10233776 PMID:10330344 PMID:10443680 PMID:10861667 PMID:10982191 PMID:11071380 PMID:11139246 PMID:11159935 PMID:11310631 PMID:11668614 PMID:11719521 PMID:11748840 PMID:12210794 PMID:12406349 PMID:12949319 PMID:15534759 PMID:16199547 PMID:16373086 PMID:17576681 PMID:18056464 PMID:18162686 PMID:18179783 PMID:18322713 PMID:18955016 PMID:19250380 PMID:19598235 PMID:19618435 PMID:19651702 PMID:20003389 PMID:20301726 PMID:20647579 PMID:21708027 PMID:22032467 PMID:22302274 PMID:22397633 PMID:22653642 PMID:22957891 PMID:23112235 PMID:23241418 PMID:23799134 PMID:24088041 PMID:24154508 PMID:24631696 PMID:25359976 PMID:25519000 PMID:25640679 PMID:25741868 PMID:25984678 PMID:26215504 PMID:26467025 PMID:26633545 PMID:26925801 PMID:27058611 PMID:27265460 PMID:27544236 PMID:27551041 PMID:27676246 PMID:27698470 PMID:27761255 PMID:28177573 PMID:28192073 PMID:28328124 PMID:28345382 PMID:28492532 PMID:28940190 PMID:28981924 PMID:29190530 PMID:29619836 PMID:29770739 PMID:30002500 PMID:30774415 PMID:31069529 PMID:31130284 PMID:32214227 PMID:32219930 PMID:32369273 PMID:32707200 PMID:32707409 PMID:32807182 PMID:32901917 PMID:33235206 PMID:33422294 PMID:33748046 PMID:34405299 PMID:3472625 PMID:37248554 PMID:77656 PMID:8696348 PMID:9536098
Go Back to source page   Continue to Ontology report