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: 737327
Species: Homo sapiens
RGD Object: Gene
Symbol: EFNB1
Name: ephrin B1
Acc ID: DOID:14737
Term: craniofrontonasal syndrome
Definition: A syndrome that has_material_basis_in mutation in the EFNB1 gene on chromosome Xq13 and is characterized in hemizygous males by hypertelorism and with greater severity in females by frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton. (DO)
Definition Source(s): https://www.omim.org/entry/304110 "DO" "DO", https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1520 "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)
EFNB1 IAGP 7240710OMIM  
EFNB1 EXP 11554173CTDCTD Direct Evidence: marker/mechanismPMID:15124102 PMID:15166289 PMID:16639408 PMID:16685650 PMID:17941886 PMID:18043713
EFNB1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Craniofrontonasal syndrome 
EFNB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Craniofrontonasal syndromePMID:28492532
EFNB1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Craniofrontonasal syndromePMID:25741868
EFNB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Craniofrontonasal syndromePMID:25741868 PMID:31837199
EFNB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Craniofrontonasal syndromePMID:15166289 PMID:25741868 PMID:28492532
EFNB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Craniofrontonasal syndromePMID:15959873 PMID:16199547 PMID:16685650 PMID:25741868 PMID:28492532
EFNB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Craniofrontonasal syndromePMID:15959873 PMID:16685650 PMID:28492532 PMID:32240825
EFNB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Craniofrontonasal syndromePMID:15166289 PMID:18391498 PMID:20643727 PMID:25741868
EFNB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Craniofrontonasal syndromePMID:17576681 PMID:25741868 PMID:28492532 PMID:33288889 PMID:9536098
EFNB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Craniofrontonasal syndromePMID:15124102
EFNB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Craniofrontonasal syndromePMID:23335590 PMID:6627724
EFNB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Craniofrontonasal syndromePMID:15124102 PMID:20565770 PMID:28492532
EFNB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Craniofrontonasal syndromePMID:15124102 PMID:16685650 PMID:18043713 PMID:20565770 PMID:25741868 PMID:28492532 PMID:31837199
EFNB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Craniofrontonasal syndromePMID:15166289 PMID:25486017 PMID:27194971 PMID:28492532
EFNB1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Craniofrontonasal syndromePMID:15166289
EFNB1 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Craniofrontonasal syndromePMID:16685650
EFNB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Craniofrontonasal syndromePMID:15166289 PMID:15959873 PMID:16685650 PMID:18627045 PMID:23335590 PMID:25741868 PMID:26586496 PMID:28492532
EFNB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Craniofrontonasal syndromePMID:1468459 PMID:23335590
EFNB1 ISSEfnb1 (Mus musculus)13592920MouseDOOMIM:304110 
Go Back to source page   Continue to Ontology report