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 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
Advanced Search (OLGA)

GENE - TERM ANNOTATION REPORT

RGD ID: 11855206
Species: Pan paniscus
RGD Object: Gene
Symbol: CNTNAP1
Name: contactin associated protein 1
Acc ID: DOID:9003308
Term: Congenital Hypomyelinating Neuropathy 3
Definition: An autosomal recessive neurologic disorder characterized by onset of neurogenic muscle impairment in utero. Affected individuals present at birth with severe hypotonia, often causing respiratory insufficiency or failure and inability to swallow or feed properly. They have profoundly impaired psychomotor development. Sural nerve biopsy shows hypomyelination of the nerve fibers. Nerve conduction velocities are severely decreased (about 10 m/s) or absent due to improper myelination.
Definition Source(s): MIM:618186
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)
CNTNAP1 ISOCNTNAP1 (Homo sapiens)7240710OMIM  
CNTNAP1 ISOCNTNAP1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuropathy, congenital hypomyelinating, 3PMID:24319099 PMID:25326635 PMID:25741868 PMID:27159321 PMID:27668699 PMID:27782105 PMID:27818385 PMID:28374019 PMID:28492532 PMID:29511323 PMID:29882456 PMID:31395954 PMID:31397905 PMID:32214227 PMID:33148880 PMID:34570182 PMID:34930662 PMID:37862170
Go Back to source page   Continue to Ontology report