Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

RGD ID: 737413
Species: Homo sapiens
RGD Object: Gene
Symbol: CDH1
Name: cadherin 1
Acc ID: DOID:0080345
Term: blepharocheilodontic syndrome 1
Definition: A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CDH1 gene on chromosome 16q22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/28301459 "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)
CDH1susceptibilityIAGP 7240710OMIM  
CDH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:25741868 PMID:28492532 PMID:31742824 PMID:32283892 PMID:32658311 PMID:36605468
CDH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:11332401 PMID:11948460 PMID:16801346 PMID:24204729 PMID:25741868 PMID:27146957 PMID:28492532 PMID:30311375 PMID:36436516
CDH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:25741868 PMID:25980754 PMID:27978560 PMID:28492532 PMID:29470806 PMID:30306255 PMID:30311375 PMID:33471991 PMID:34326862 PMID:36271359 PMID:36436516
CDH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:15235021 PMID:20373070 PMID:25123297 PMID:25741868 PMID:28492532 PMID:30287823 PMID:30311375 PMID:32842532 PMID:33471991 PMID:36436516
CDH1 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)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:25741868 PMID:28492532
CDH1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:28301459
CDH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:15235021 PMID:20373070 PMID:25741868 PMID:28492532
CDH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:27566442 PMID:28492532
CDH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:15235021 PMID:17545690 PMID:19269290 PMID:20233471 PMID:20373070 PMID:21271559 PMID:25741868 PMID:26182300 PMID:28492532
CDH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:25741868 PMID:28492532 PMID:28944238
CDH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:15235021 PMID:20373070 PMID:25741868 PMID:26467025 PMID:28492532
CDH1 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:25741868 PMID:26467025 PMID:28492532
CDH1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:25741868
CDH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:25741868 PMID:28301459
CDH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:32260281
CDH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:25741868 PMID:28492532 PMID:32260281
CDH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:11598162 PMID:12588804 PMID:14500541 PMID:20233471 PMID:22470475 PMID:22703879 PMID:24728327 PMID:25067988 PMID:25741868 PMID:28492532 PMID:30311375 PMID:36436516 PMID:8075649
CDH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:19139070 PMID:22470475 PMID:25186627 PMID:25741868 PMID:25882375 PMID:25980754 PMID:26467025 PMID:27616075 PMID:27930734 PMID:28492532 PMID:28767289 PMID:28993866 PMID:29492670 PMID:29522266 PMID:30089731 PMID:30287823 PMID:30311375 PMID:30374176 PMID:30426508 PMID:31159747 PMID:33471991 PMID:33980423 PMID:35089076 PMID:36436516 PMID:8075649
CDH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:11305955 PMID:22703879 PMID:24728327 PMID:25741868 PMID:26072394 PMID:28492532 PMID:30311375 PMID:36436516
CDH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:24204729 PMID:25741868 PMID:26206375 PMID:26467025 PMID:26580448 PMID:27227907 PMID:27443514 PMID:28492532 PMID:30311375 PMID:33471991 PMID:36436516 PMID:9537325 PMID:9744472
CDH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:25741868 PMID:26123647 PMID:28135145 PMID:28492532 PMID:30287823
CDH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:21106365 PMID:24326041 PMID:24755471 PMID:25231023 PMID:25741868 PMID:25980754 PMID:26182300 PMID:26467025 PMID:26893459 PMID:27582386 PMID:27621404 PMID:28492532 PMID:29577179 PMID:30311375 PMID:34471991 PMID:36436516
CDH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:12800196 PMID:20921021 PMID:22470475 PMID:23197654 PMID:24033266 PMID:2449335 PMID:24493355 PMID:24728327 PMID:25593300 PMID:25637381 PMID:25741868 PMID:25980754 PMID:26072394 PMID:26123647 PMID:26467025 PMID:26483394 PMID:26759166 PMID:27146957 PMID:27153395 PMID:27443514 PMID:27616075 PMID:27930734 PMID:27978560 PMID:28135145 PMID:28492532 PMID:28640387 PMID:28944238 PMID:29348693 PMID:29589180 PMID:30311375 PMID:36436516
CDH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:24728327 PMID:25741868 PMID:28492532 PMID:29641532 PMID:30311375 PMID:36436516
CDH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:15235021 PMID:16501831 PMID:16787116 PMID:16924464 PMID:19269290 PMID:20233471 PMID:20373070 PMID:22470475 PMID:24690483 PMID:24728327 PMID:25741868 PMID:27582386 PMID:28492532 PMID:30311375 PMID:30661051 PMID:33471991
CDH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:16924464 PMID:17221870 PMID:17545690 PMID:19268661 PMID:19725995 PMID:20373070 PMID:23264079 PMID:25741868 PMID:26182300 PMID:26467025 PMID:26681312 PMID:26845104 PMID:27582386 PMID:28492532 PMID:28873162 PMID:29577179 PMID:30311375 PMID:32269045 PMID:33619332
CDH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:11948460 PMID:15235021 PMID:16061854 PMID:17522512 PMID:18442100 PMID:20373070 PMID:20719348 PMID:21424370 PMID:22723466 PMID:23264079 PMID:25741868 PMID:26072394 PMID:26467025 PMID:28492532 PMID:28688938 PMID:29025585 PMID:30287823 PMID:30311375 PMID:31514334 PMID:31589614 PMID:36436516 PMID:36988593
CDH1 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:24033266 PMID:25741868 PMID:28492532
CDH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:25067988 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28961279 PMID:30311375 PMID:32658311 PMID:33193653 PMID:33471991 PMID:36436516
CDH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:25186627 PMID:25741868 PMID:27978560 PMID:28492532 PMID:29752822 PMID:30311375 PMID:36436516
CDH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:25741868 PMID:25980754 PMID:28492532
CDH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:15235021 PMID:20373070 PMID:23709761 PMID:25741868 PMID:28492532 PMID:30311375 PMID:36436516
CDH1 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311375 PMID:36436516
CDH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:11747475 PMID:25741868 PMID:28492532 PMID:28608266
CDH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:25741868 PMID:26467025 PMID:28492532 PMID:28640387 PMID:30311375 PMID:31871109 PMID:32566746 PMID:33471991 PMID:36436516
CDH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:25186627 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29641532 PMID:30287823 PMID:30311375 PMID:33471991 PMID:36436516
CDH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 1PMID:25741868 PMID:27978560 PMID:28492532 PMID:30311375 PMID:36436516
Go Back to source page   Continue to Ontology report