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: 12319071
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: BMP4
Name: bone morphogenetic protein 4
Acc ID: DOID:9296
Term: cleft lip
Definition: An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Cleft_lip_and_cleft_palate "DO" "DO", https://www.cdc.gov/ncbddd/birthdefects/cleftlip.html "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)
BMP4susceptibilityISOBMP4 (Homo sapiens)9068941RGDDNA:polymorphism:cds:p.V152A(human)PMID:18771417 REF_RGD_ID:13442495
BMP4susceptibilityISOBMP4 (Homo sapiens)9068941RGDDNA:SNP: : rs17563 (p.V152A)(human)PMID:23227324 REF_RGD_ID:13442497
BMP4 ISOBMP4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal DominantPMID:12404109 PMID:18771417 PMID:19249007 PMID:19557432 PMID:23227324 PMID:25741868 PMID:28492532
Go Back to source page   Continue to Ontology report