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GENE - TERM ANNOTATION REPORT
RGD ID:
18457741
Species:
Chlorocebus sabaeus
RGD Object:
Gene
Symbol:
LOC103233229
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 Symbol
Qualifier
Evidence
With
Reference
Source
Notes
Original Reference(s)
LOC103233229
ISO
CDH1 (Homo sapiens)
7240710
OMIM
LOC103233229
ISO
CDH1 (Homo sapiens)
8554872
ClinVar
ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1
PMID:11305955
PMID:11332401
PMID:11598162
PMID:11747475
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PMID:12800196
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PMID:15235021
PMID:16061854
PMID:16501831
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PMID:16801346
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PMID:17221870
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PMID:19268661
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PMID:19725995
PMID:20233471
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PMID:20719348
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PMID:22470475
PMID:22703879
PMID:22723466
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PMID:36474027
PMID:36605468
PMID:36988593
PMID:8075649
PMID:9537325
PMID:9744472
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